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EPB41L2 erythrocyte membrane protein band 4.1 like 2 [ Homo sapiens (human) ]

Gene ID: 2037, updated on 7-Apr-2024

Summary

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Official Symbol
EPB41L2provided by HGNC
Official Full Name
erythrocyte membrane protein band 4.1 like 2provided by HGNC
Primary source
HGNC:HGNC:3379
See related
Ensembl:ENSG00000079819 MIM:603237; AllianceGenome:HGNC:3379
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
4.1G; 4.1-G
Summary
Predicted to enable PH domain binding activity; cytoskeletal protein binding activity; and structural molecule activity. Involved in positive regulation of protein localization to cell cortex. Located in cell junction; nucleoplasm; and plasma membrane. Colocalizes with COP9 signalosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 33.9), ovary (RPKM 23.5) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
6q23.1-q23.2
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (130839347..131063245, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (132034412..132258670, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (131160487..131384385, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378003 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89674 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:131117030-131117723 Neighboring gene Sharpr-MPRA regulatory region 8038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25062 Neighboring gene Sharpr-MPRA regulatory region 2744 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89712 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89717 Neighboring gene small leucine rich protein 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17541 Neighboring gene Sharpr-MPRA regulatory region 6396 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89750 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:131314249-131315096 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89780 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17543 Neighboring gene uncharacterized LOC105378004 Neighboring gene uncharacterized LOC102723445 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89797 Neighboring gene A-kinase anchoring protein 7

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Exosomal circEPB41L2 serves as a sponge for miR-21-5p and miR-942-5p to suppress colorectal cancer progression by regulating the PTEN/AKT signalling pathway. Jiang Z, et al. Eur J Clin Invest, 2021 Sep. PMID 34022068
  2. Novel mechanism of regulation of protein 4.1G binding properties through Ca2+/calmodulin-mediated structural changes. Nunomura W, et al. Cell Biochem Biophys, 2013 Jul. PMID 23354586
  3. Suppression of adenylyl cyclase-mediated cAMP production by plasma membrane associated cytoskeletal protein 4.1G. Goto T, et al. Cell Signal, 2013 Mar. PMID 23201780
  4. Activity of Adenylyl Cyclase Type 6 Is Suppressed by Direct Binding of the Cytoskeletal Protein 4.1G. Saito M, et al. Mol Pharmacol, 2019 Oct. PMID 31383768
  5. Protein 4.1G binds to a unique motif within the Fc gamma RI cytoplasmic tail. Beekman JM, et al. Mol Immunol, 2008 Apr. PMID 18023480

See all (125) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Exosomal circEPB41L2 serves as a sponge for miR-21-5p and miR-942-5p to suppress colorectal cancer progression by regulating the PTEN/AKT signalling pathway.
    Title: Exosomal circEPB41L2 serves as a sponge for miR-21-5p and miR-942-5p to suppress colorectal cancer progression by regulating the PTEN/AKT signalling pathway.
  2. Data found that direct binding of 4.1G to the N-terminus of AC6 (AC6-N) contributes to the plasma membrane association of AC6-N and the resulting suppression of AC6 cyclase activity.
    Title: Activity of Adenylyl Cyclase Type 6 Is Suppressed by Direct Binding of the Cytoskeletal Protein 4.1G.
  3. Ca(2+)/CaM binding to GHP, and more specifically to pepG, has profound effects on other functional domains of 4.1G
    Title: Novel mechanism of regulation of protein 4.1G binding properties through Ca2+/calmodulin-mediated structural changes.
  4. 4.1G protein depresses PTH-related protein receptor-mediated Gs signaling pathway by suppression of adenylyl cyclase-mediated cAMP production.
    Title: Suppression of adenylyl cyclase-mediated cAMP production by plasma membrane associated cytoskeletal protein 4.1G.
  5. A phosphoserine-dependent tethering role for protein 4.1G in lipid rafts provides insight into the unique phosphoserine-based regulation of FcgammaRI receptor signaling.
    Title: Serine phosphorylation of FcγRI cytoplasmic domain directs lipid raft localization and interaction with protein 4.1G.
  6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  7. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide association study of childhood acute lymphoblastic leukemia in Korea.
  8. An alternatively spliced 4.1G product is shown to be associated with increased Fc gamma RI binding in yeast two-hybrid assays, and to be selectively enriched in most immune cells at the transcript level.
    Title: Protein 4.1G binds to a unique motif within the Fc gamma RI cytoplasmic tail.
  9. PTA-1(CD226 antigen) is localized to membrane rafts and binds the carboxyl-terminal domain of isoforms of the actin-binding protein 4.1G and also can bind human discs large providing the structural basis for a regulated molecular adhesive complex
    Title: The LFA-1-associated molecule PTA-1 (CD226) on T cells forms a dynamic molecular complex with protein 4.1G and human discs large.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial.
EBI GWAS Catalog
Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N = 1345 young and elderly subjects.
EBI GWAS Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog
No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag Cellular biotinylated erythrocyte membrane protein band 4.1-like 2 (EPB41L2) protein is incorporated into HIV-1 Gag virus-like particles PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp781D1972, DKFZp781H1755

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables PH domain binding IEA
Inferred from Electronic Annotation
more info
  
enables actin binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables spectrin binding IEA
Inferred from Electronic Annotation
more info
  
enables structural molecule activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in actomyosin structure organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in cortical actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of protein localization to cell cortex IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of COP9 signalosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell cortex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell junction IDA
Inferred from Direct Assay
more info
  
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in focal adhesion HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
part_of spectrin TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
band 4.1-like protein 2
Names
erythrocyte membrane protein band 4.1 like-protein 2
generally expressed protein 4.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001135554.2 → NP_001129026.1  band 4.1-like protein 2 isoform b

    See identical proteins and their annotated locations for NP_001129026.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks multiple consecutive in-frame exons in the CDS, compared to variant 1. The resulting isoform (b) lacks an internal segment, compared to isoform a. Variants 2 and 3 encode the same isoform (b).
    Source sequence(s)
    AB209522, BC034718, DA108957
    Consensus CDS
    CCDS47474.1
    UniProtKB/TrEMBL
    Q59FD8
    Related
    ENSP00000376222.3, ENST00000392427.7
    Conserved Domains (5) summary
    PTZ00121
    Location:9 → 222
    PTZ00121; MAEBL; Provisional
    smart00295
    Location:220 → 409
    B41; Band 4.1 homologues
    cd13184
    Location:404 → 497
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam05902
    Location:611 → 666
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:507 → 550
    FA; FERM adjacent (FA)

  2. NM_001135555.4 → NP_001129027.1  band 4.1-like protein 2 isoform b

    See identical proteins and their annotated locations for NP_001129027.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR and lacks five consecutive exons in the coding region, but maintains the reading frame, compared to variant 1. Variants 2 and 3 encode the same isoform (b), which is shorter than isoform a.
    Source sequence(s)
    AK295124, BC034718
    Consensus CDS
    CCDS47474.1
    UniProtKB/TrEMBL
    Q59FD8
    Related
    ENSP00000432803.1, ENST00000525271.5
    Conserved Domains (5) summary
    PTZ00121
    Location:9 → 222
    PTZ00121; MAEBL; Provisional
    smart00295
    Location:220 → 409
    B41; Band 4.1 homologues
    cd13184
    Location:404 → 497
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam05902
    Location:611 → 666
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:507 → 550
    FA; FERM adjacent (FA)

  3. NM_001199388.3 → NP_001186317.1  band 4.1-like protein 2 isoform c

    See identical proteins and their annotated locations for NP_001186317.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, uses an alternate splice site in the coding region and lacks two consecutive coding exons, but maintains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a. Variants 4 and 15-17 all encode the same isoform (c).
    Source sequence(s)
    AK295958, BC034718, DA108957
    Consensus CDS
    CCDS56450.1
    UniProtKB/TrEMBL
    E9PK52
    Related
    ENSP00000434576.1, ENST00000530481.5
    Conserved Domains (5) summary
    smart00295
    Location:220 → 409
    B41; Band 4.1 homologues
    cd13184
    Location:404 → 497
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam05902
    Location:740 → 845
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:507 → 549
    FA; FERM adjacent (FA)
    cl26511
    Location:9 → 222
    Neuromodulin_N; Gap junction protein N-terminal region

  4. NM_001252660.2 → NP_001239589.1  band 4.1-like protein 2 isoform d

    See identical proteins and their annotated locations for NP_001239589.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and lacks three consecutive exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (d) is shorter than isoform a. Variants 6 and 18-20 all encode the same isoform (d).
    Source sequence(s)
    BC034718, CR749262, CR936793
    Consensus CDS
    CCDS59037.1
    UniProtKB/TrEMBL
    Q59FD8
    Related
    ENSP00000434308.1, ENST00000528282.5
    Conserved Domains (5) summary
    smart00295
    Location:220 → 409
    B41; Band 4.1 homologues
    cd13184
    Location:404 → 497
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam05902
    Location:635 → 740
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:507 → 549
    FA; FERM adjacent (FA)
    cl26511
    Location:9 → 222
    Neuromodulin_N; Gap junction protein N-terminal region

  5. NM_001350299.2 → NP_001337228.1  band 4.1-like protein 2 isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) represents the longest transcript and encodes the longest isoform (e).
    Source sequence(s)
    AL355360, AL358943
    Consensus CDS
    CCDS94000.1
    UniProtKB/TrEMBL
    A0A994J5B1
    Related
    ENSP00000516350.1, ENST00000706365.1
    Conserved Domains (6) summary
    smart00295
    Location:220 → 409
    B41; Band 4.1 homologues
    cd13184
    Location:404 → 497
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam04382
    Location:630 → 673
    SAB; SAB domain
    pfam05902
    Location:945 → 1050
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:507 → 549
    FA; FERM adjacent (FA)
    cl26511
    Location:9 → 222
    Neuromodulin_N; Gap junction protein N-terminal region

  6. NM_001350301.2 → NP_001337230.1  band 4.1-like protein 2 isoform f

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) encodes isoform f.
    Source sequence(s)
    AL355360, AL357496, AL358943
    Conserved Domains (6) summary
    smart00295
    Location:220 → 409
    B41; Band 4.1 homologues
    cd13184
    Location:404 → 497
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam04382
    Location:630 → 673
    SAB; SAB domain
    pfam05902
    Location:945 → 1017
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:507 → 549
    FA; FERM adjacent (FA)
    cl26511
    Location:9 → 222
    Neuromodulin_N; Gap junction protein N-terminal region

  7. NM_001350302.2 → NP_001337231.1  band 4.1-like protein 2 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9), as well as variant 1, encodes isoform a.
    Source sequence(s)
    AL355360, AL358943
    Consensus CDS
    CCDS5141.1
    UniProtKB/Swiss-Prot
    B4DHI8, E9PPD9, O43491, Q5T4F0, Q68DV2
    UniProtKB/TrEMBL
    E9PK52
    Conserved Domains (6) summary
    smart00295
    Location:220 → 409
    B41; Band 4.1 homologues
    cd13184
    Location:404 → 497
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam04382
    Location:630 → 673
    SAB; SAB domain
    pfam05902
    Location:893 → 998
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:507 → 549
    FA; FERM adjacent (FA)
    cl26511
    Location:9 → 222
    Neuromodulin_N; Gap junction protein N-terminal region

  8. NM_001350303.2 → NP_001337232.1  band 4.1-like protein 2 isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10) encodes isoform g.
    Source sequence(s)
    AL355360, AL357496, AL358943
    UniProtKB/TrEMBL
    E9PK52
    Conserved Domains (5) summary
    smart00295
    Location:220 → 409
    B41; Band 4.1 homologues
    cd13184
    Location:404 → 497
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam05902
    Location:844 → 949
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:507 → 549
    FA; FERM adjacent (FA)
    cl26511
    Location:9 → 222
    Neuromodulin_N; Gap junction protein N-terminal region

  9. NM_001350304.2 → NP_001337233.1  band 4.1-like protein 2 isoform h

    Status: VALIDATED

    Description
    Transcript Variant: This variant (11), as well as variants 12 and 13, encodes isoform h.
    Source sequence(s)
    AL355360, AL357496, AL358943
    Consensus CDS
    CCDS87440.1
    UniProtKB/TrEMBL
    E9PHY5, E9PK52
    Related
    ENSP00000486691.1, ENST00000628542.2
    Conserved Domains (5) summary
    smart00295
    Location:220 → 409
    B41; Band 4.1 homologues
    cd13184
    Location:404 → 497
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam05902
    Location:823 → 928
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:507 → 549
    FA; FERM adjacent (FA)
    cl26511
    Location:9 → 222
    Neuromodulin_N; Gap junction protein N-terminal region

  10. NM_001350305.2 → NP_001337234.1  band 4.1-like protein 2 isoform h

    Status: VALIDATED

    Description
    Transcript Variant: This variant (12), as well as variants 11 and 13, encodes isoform h.
    Source sequence(s)
    AL355360, AL357496, AL358943
    Consensus CDS
    CCDS87440.1
    UniProtKB/TrEMBL
    E9PHY5, E9PK52
    Related
    ENSP00000436348.1, ENST00000527411.5
    Conserved Domains (5) summary
    smart00295
    Location:220 → 409
    B41; Band 4.1 homologues
    cd13184
    Location:404 → 497
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam05902
    Location:823 → 928
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:507 → 549
    FA; FERM adjacent (FA)
    cl26511
    Location:9 → 222
    Neuromodulin_N; Gap junction protein N-terminal region

  11. NM_001350306.2 → NP_001337235.1  band 4.1-like protein 2 isoform h

    Status: VALIDATED

    Description
    Transcript Variant: This variant (13), as well as variants 11 and 12, encodes isoform h.
    Source sequence(s)
    AL355360, AL358943
    Consensus CDS
    CCDS87440.1
    UniProtKB/TrEMBL
    E9PHY5, E9PK52
    Related
    ENSP00000436641.1, ENST00000529208.5
    Conserved Domains (5) summary
    smart00295
    Location:220 → 409
    B41; Band 4.1 homologues
    cd13184
    Location:404 → 497
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam05902
    Location:823 → 928
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:507 → 549
    FA; FERM adjacent (FA)
    cl26511
    Location:9 → 222
    Neuromodulin_N; Gap junction protein N-terminal region

  12. NM_001350307.2 → NP_001337236.1  band 4.1-like protein 2 isoform i

    Status: VALIDATED

    Description
    Transcript Variant: This variant (14) encodes isoform i.
    Source sequence(s)
    AL355360, AL357496, AL358943
    UniProtKB/TrEMBL
    E9PK52
    Conserved Domains (5) summary
    smart00295
    Location:220 → 409
    B41; Band 4.1 homologues
    cd13184
    Location:404 → 497
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam05902
    Location:758 → 863
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:507 → 549
    FA; FERM adjacent (FA)
    cl26511
    Location:9 → 222
    Neuromodulin_N; Gap junction protein N-terminal region

  13. NM_001350308.2 → NP_001337237.1  band 4.1-like protein 2 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (15), as well as variants 4, 16, and 17, encodes isoform c.
    Source sequence(s)
    AL355360, AL357496, AL358943
    Consensus CDS
    CCDS56450.1
    UniProtKB/TrEMBL
    E9PK52
    Conserved Domains (5) summary
    smart00295
    Location:220 → 409
    B41; Band 4.1 homologues
    cd13184
    Location:404 → 497
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam05902
    Location:740 → 845
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:507 → 549
    FA; FERM adjacent (FA)
    cl26511
    Location:9 → 222
    Neuromodulin_N; Gap junction protein N-terminal region

  14. NM_001350309.1 → NP_001337238.1  band 4.1-like protein 2 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (16), as well as variants 4, 15, and 17, encodes isoform c.
    Source sequence(s)
    AL355360, AL357496, AL358943
    Consensus CDS
    CCDS56450.1
    UniProtKB/TrEMBL
    E9PK52
    Related
    ENSP00000431647.1, ENST00000527659.5
    Conserved Domains (5) summary
    smart00295
    Location:220 → 409
    B41; Band 4.1 homologues
    cd13184
    Location:404 → 497
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam05902
    Location:740 → 845
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:507 → 549
    FA; FERM adjacent (FA)
    cl26511
    Location:9 → 222
    Neuromodulin_N; Gap junction protein N-terminal region

  15. NM_001350310.2 → NP_001337239.1  band 4.1-like protein 2 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (17), as well as variants 4, 15, and 16, encodes isoform c.
    Source sequence(s)
    AL355360, AL358943
    Consensus CDS
    CCDS56450.1
    UniProtKB/TrEMBL
    E9PK52
    Conserved Domains (5) summary
    smart00295
    Location:220 → 409
    B41; Band 4.1 homologues
    cd13184
    Location:404 → 497
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam05902
    Location:740 → 845
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:507 → 549
    FA; FERM adjacent (FA)
    cl26511
    Location:9 → 222
    Neuromodulin_N; Gap junction protein N-terminal region

  16. NM_001350311.2 → NP_001337240.1  band 4.1-like protein 2 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (18), as well as variants 6, 19, and 20, encodes isoform d.
    Source sequence(s)
    AL355360, AL357496, AL358943
    Consensus CDS
    CCDS59037.1
    UniProtKB/TrEMBL
    Q59FD8
    Conserved Domains (5) summary
    smart00295
    Location:220 → 409
    B41; Band 4.1 homologues
    cd13184
    Location:404 → 497
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam05902
    Location:635 → 740
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:507 → 549
    FA; FERM adjacent (FA)
    cl26511
    Location:9 → 222
    Neuromodulin_N; Gap junction protein N-terminal region

  17. NM_001350312.2 → NP_001337241.1  band 4.1-like protein 2 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (19), as well as variants 6, 18, and 20, encodes isoform d.
    Source sequence(s)
    AL355360, AL357496, AL358943
    Consensus CDS
    CCDS59037.1
    UniProtKB/TrEMBL
    Q59FD8
    Related
    ENSP00000402041.2, ENST00000445890.6
    Conserved Domains (5) summary
    smart00295
    Location:220 → 409
    B41; Band 4.1 homologues
    cd13184
    Location:404 → 497
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam05902
    Location:635 → 740
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:507 → 549
    FA; FERM adjacent (FA)
    cl26511
    Location:9 → 222
    Neuromodulin_N; Gap junction protein N-terminal region

  18. NM_001350313.2 → NP_001337242.1  band 4.1-like protein 2 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (20), as well as variants 6, 18, and 19, encodes isoform d.
    Source sequence(s)
    AL355360, AL358943
    Consensus CDS
    CCDS59037.1
    UniProtKB/TrEMBL
    Q59FD8
    Conserved Domains (5) summary
    smart00295
    Location:220 → 409
    B41; Band 4.1 homologues
    cd13184
    Location:404 → 497
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam05902
    Location:635 → 740
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:507 → 549
    FA; FERM adjacent (FA)
    cl26511
    Location:9 → 222
    Neuromodulin_N; Gap junction protein N-terminal region

  19. NM_001350314.2 → NP_001337243.1  band 4.1-like protein 2 isoform j

    Status: VALIDATED

    Description
    Transcript Variant: This variant (21), as well as variant 22, encodes isoform j.
    Source sequence(s)
    AL355360, AL357496, AL358943
    Consensus CDS
    CCDS87439.1
    UniProtKB/TrEMBL
    E9PII3, Q59FD8
    Related
    ENSP00000431988.1, ENST00000525193.5
    Conserved Domains (5) summary
    smart00295
    Location:220 → 409
    B41; Band 4.1 homologues
    cd13184
    Location:404 → 497
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam05902
    Location:611 → 699
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:507 → 549
    FA; FERM adjacent (FA)
    cl26511
    Location:9 → 222
    Neuromodulin_N; Gap junction protein N-terminal region

  20. NM_001350315.2 → NP_001337244.1  band 4.1-like protein 2 isoform j

    Status: VALIDATED

    Description
    Transcript Variant: This variant (22), as well as variant 21, encodes isoform j.
    Source sequence(s)
    AL355360, AL357496, AL358943
    Consensus CDS
    CCDS87439.1
    UniProtKB/TrEMBL
    E9PII3, Q59FD8
    Conserved Domains (5) summary
    smart00295
    Location:220 → 409
    B41; Band 4.1 homologues
    cd13184
    Location:404 → 497
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam05902
    Location:611 → 699
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:507 → 549
    FA; FERM adjacent (FA)
    cl26511
    Location:9 → 222
    Neuromodulin_N; Gap junction protein N-terminal region

  21. NM_001350320.2 → NP_001337249.1  band 4.1-like protein 2 isoform k

    Status: VALIDATED

    Description
    Transcript Variant: This variant (23) encodes isoform k.
    Source sequence(s)
    AL355360, AL357496, AL358943
    Conserved Domains (3) summary
    cd13184
    Location:2 → 95
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam05902
    Location:421 → 526
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:105 → 147
    FA; FERM adjacent (FA)

  22. NM_001431.4 → NP_001422.1  band 4.1-like protein 2 isoform a

    See identical proteins and their annotated locations for NP_001422.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1), as well as variant 9, encodes isoform a.
    Source sequence(s)
    AF027299, BC034718, DA108957
    Consensus CDS
    CCDS5141.1
    UniProtKB/Swiss-Prot
    B4DHI8, E9PPD9, O43491, Q5T4F0, Q68DV2
    UniProtKB/TrEMBL
    E9PK52
    Related
    ENSP00000338481.3, ENST00000337057.8
    Conserved Domains (6) summary
    smart00295
    Location:220 → 409
    B41; Band 4.1 homologues
    cd13184
    Location:404 → 497
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam04382
    Location:630 → 673
    SAB; SAB domain
    pfam05902
    Location:893 → 998
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:507 → 549
    FA; FERM adjacent (FA)
    cl26511
    Location:9 → 222
    Neuromodulin_N; Gap junction protein N-terminal region

RNA

  1. NR_146620.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL355360, AL357496, AL358943

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    130839347..131063245 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    132034412..132258670 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001199389.1: Suppressed sequence

    Description
    NM_001199389.1: This RefSeq was permanently suppressed because currently there is insufficient support for the exon combination of the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43491.1 GenPept UniProtKB/Swiss-Prot:O43491

Gene LinkOut

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