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CTTNBP2NL CTTNBP2 N-terminal like [ Homo sapiens (human) ]

Gene ID: 55917, updated on 5-Mar-2024

Summary

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Official Symbol
CTTNBP2NLprovided by HGNC
Official Full Name
CTTNBP2 N-terminal likeprovided by HGNC
Primary source
HGNC:HGNC:25330
See related
Ensembl:ENSG00000143079 MIM:615100; AllianceGenome:HGNC:25330
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
Summary
Enables protein phosphatase 2A binding activity. Acts upstream of or within negative regulation of transmembrane transport; negative regulation of transporter activity; and protein dephosphorylation. Located in actin cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in esophagus (RPKM 9.4), gall bladder (RPKM 9.0) and 23 other tissues See more
Orthologs
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Genomic context

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See CTTNBP2NL in Genome Data Viewer
Location:
1p13.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (112391087..112461164)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (112403339..112473705)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (112938836..113003786)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:112928422-112928957 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:112928958-112929492 Neighboring gene thioredoxin pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1195 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:112947097-112947622 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:112950375-112950562 Neighboring gene Sharpr-MPRA regulatory region 6417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1512 Neighboring gene MPRA-validated peak369 silencer Neighboring gene microRNA 4256 Neighboring gene Wnt family member 2B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:113050855-113051398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1200 Neighboring gene Sharpr-MPRA regulatory region 8072 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:113052323-113052822 Neighboring gene suppression of tumorigenicity 7 like

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. Genetic variants related to gap junctions and hormone secretion influence conception rates in cows. Sugimoto M, et al. Proc Natl Acad Sci U S A, 2013 Nov 26. PMID 24218568, Free PMC Article
  2. HectD1 E3 ligase modifies adenomatous polyposis coli (APC) with polyubiquitin to promote the APC-axin interaction. Tran H, et al. J Biol Chem, 2013 Feb 8. PMID 23277359, Free PMC Article
  3. Ubiquitin Specific Peptidase 15 (USP15) suppresses glioblastoma cell growth via stabilization of HECTD1 E3 ligase attenuating WNT pathway activity. Oikonomaki M, et al. Oncotarget, 2017 Dec 15. PMID 29299163, Free PMC Article
  4. A PP2A phosphatase high density interaction network identifies a novel striatin-interacting phosphatase and kinase complex linked to the cerebral cavernous malformation 3 (CCM3) protein. Goudreault M, et al. Mol Cell Proteomics, 2009 Jan. PMID 18782753, Free PMC Article
  5. The nuclear interactome of DYRK1A reveals a functional role in DNA damage repair. Guard SE, et al. Sci Rep, 2019 Apr 25. PMID 31024071, Free PMC Article

See all (57) citations in PubMed

GeneRIFs: Gene References Into Functions

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

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ13278, DKFZp547A023

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein phosphatase 2A binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein phosphatase 2A binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within negative regulation of transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within negative regulation of transporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within protein dephosphorylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in actin cytoskeleton IDA
Inferred from Direct Assay
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in lamellipodium IEA
Inferred from Electronic Annotation
more info
  
located_in stress fiber IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
CTTNBP2 N-terminal-like protein

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_018704.3 → NP_061174.1  CTTNBP2 N-terminal-like protein

    See identical proteins and their annotated locations for NP_061174.1

    Status: VALIDATED

    Source sequence(s)
    AL354760, AL598321, BE645464, DA238082, DB236769
    Consensus CDS
    CCDS845.1
    UniProtKB/Swiss-Prot
    B3KMS5, Q96B40, Q9P2B4
    Related
    ENSP00000271277.6, ENST00000271277.11
    Conserved Domains (2) summary
    pfam09727
    Location:5 → 188
    CortBP2; Cortactin-binding protein-2
    cl23720
    Location:96 → 246
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    112391087..112461164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001806.2 → XP_016857295.1  CTTNBP2 N-terminal-like protein isoform X1

    UniProtKB/Swiss-Prot
    B3KMS5, Q96B40, Q9P2B4
    Conserved Domains (2) summary
    pfam09727
    Location:5 → 188
    CortBP2; Cortactin-binding protein-2
    cl23720
    Location:96 → 246
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

  2. XM_011541781.3 → XP_011540083.1  CTTNBP2 N-terminal-like protein isoform X1

    See identical proteins and their annotated locations for XP_011540083.1

    UniProtKB/Swiss-Prot
    B3KMS5, Q96B40, Q9P2B4
    Conserved Domains (2) summary
    pfam09727
    Location:5 → 188
    CortBP2; Cortactin-binding protein-2
    cl23720
    Location:96 → 246
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

  3. XM_047425362.1 → XP_047281318.1  CTTNBP2 N-terminal-like protein isoform X1

    UniProtKB/Swiss-Prot
    B3KMS5, Q96B40, Q9P2B4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    112403339..112473705
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337705.1 → XP_054193680.1  CTTNBP2 N-terminal-like protein isoform X1

    UniProtKB/Swiss-Prot
    B3KMS5, Q96B40, Q9P2B4

  2. XM_054337703.1 → XP_054193678.1  CTTNBP2 N-terminal-like protein isoform X1

    UniProtKB/Swiss-Prot
    B3KMS5, Q96B40, Q9P2B4

  3. XM_054337704.1 → XP_054193679.1  CTTNBP2 N-terminal-like protein isoform X1

    UniProtKB/Swiss-Prot
    B3KMS5, Q96B40, Q9P2B4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P2B4.2 GenPept UniProtKB/Swiss-Prot:Q9P2B4

Gene LinkOut

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