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RFPL2 ret finger protein like 2 [ Homo sapiens (human) ]

Gene ID: 10739, updated on 5-Mar-2024

Summary

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Official Symbol
RFPL2provided by HGNC
Official Full Name
ret finger protein like 2provided by HGNC
Primary source
HGNC:HGNC:9979
See related
Ensembl:ENSG00000128253 MIM:605969; AllianceGenome:HGNC:9979
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
RNF79
Summary
Predicted to enable ubiquitin-protein transferase activity. Predicted to be involved in positive regulation of transcription, DNA-templated. Predicted to be active in chromatin and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in prostate (RPKM 5.5) and brain (RPKM 0.5) See more
Orthologs
all
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Genomic context

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Location:
22q12.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (32190438..32205073, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (32654520..32669156, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (32586425..32601060, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene AP1B1 pseudogene 2 Neighboring gene chromosome 22 open reading frame 42 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:32602504-32603234 Neighboring gene SLC5A4 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32608089-32608590 Neighboring gene solute carrier family 5 member 4 Neighboring gene CPSF1 pseudogene 1 Neighboring gene uncharacterized LOC107985561

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. Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development. Bonnefont J, et al. Am J Hum Genet, 2008 Aug. PMID 18656177, Free PMC Article
  2. Duplications on human chromosome 22 reveal a novel Ret Finger Protein-like gene family with sense and endogenous antisense transcripts. Seroussi E, et al. Genome Res, 1999 Sep. PMID 10508838
  3. Proteome-scale Binary Interactomics in Human Cells. Lievens S, et al. Mol Cell Proteomics, 2016 Dec. PMID 27803151, Free PMC Article
  4. A genome annotation-driven approach to cloning the human ORFeome. Collins JE, et al. Genome Biol, 2004. PMID 15461802, Free PMC Article
  5. The DNA sequence of human chromosome 22. Dunham I, et al. Nature, 1999 Dec 2. PMID 10591208

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. the human RFPL1,2,3 genes have a role in neocortex development
    Title: Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development.
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

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in innate immune response IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of NF-kappaB transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of autophagy IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of canonical NF-kappaB signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of protein localization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of viral entry into host cell IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
ret finger protein-like 2
Names
RING finger protein 79

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_001098527.3 → NP_001091997.2  ret finger protein-like 2 isoform 2

    See identical proteins and their annotated locations for NP_001091997.2

    Status: VALIDATED

    Source sequence(s)
    AK055999, BC069827, DB549304
    Consensus CDS
    CCDS43009.2
    UniProtKB/Swiss-Prot
    O75678
    Related
    ENSP00000383096.1, ENST00000400237.2
    Conserved Domains (4) summary
    cd15821
    Location:183 → 360
    SPRY_PRY_RFPL; Ret finger protein-like (RFPL), includes RFP1, 2, 3, 4
    cd00162
    Location:101 → 142
    RING_Ubox; variant RING-HC finger (C4C4-type) [structural motif]
    pfam11002
    Location:144 → 185
    RDM; RFPL defining motif (RDM)
    cl17238
    Location:100 → 143
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

  2. NM_001159545.3 → NP_001153017.1  ret finger protein-like 2 isoform 3

    See identical proteins and their annotated locations for NP_001153017.1

    Status: VALIDATED

    Source sequence(s)
    AL008723
    UniProtKB/TrEMBL
    Q6NSX6
    Conserved Domains (4) summary
    cd15821
    Location:93 → 270
    SPRY_PRY_RFPL; Ret finger protein-like (RFPL), includes RFP1, 2, 3, 4
    cd00162
    Location:11 → 52
    RING_Ubox; variant RING-HC finger (C4C4-type) [structural motif]
    pfam11002
    Location:54 → 95
    RDM; RFPL defining motif (RDM)
    cl17238
    Location:10 → 53
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

  3. NM_001159546.3 → NP_001153018.1  ret finger protein-like 2 isoform 3

    See identical proteins and their annotated locations for NP_001153018.1

    Status: VALIDATED

    Source sequence(s)
    AL008723
    UniProtKB/TrEMBL
    Q6NSX6
    Conserved Domains (4) summary
    cd15821
    Location:93 → 270
    SPRY_PRY_RFPL; Ret finger protein-like (RFPL), includes RFP1, 2, 3, 4
    cd00162
    Location:11 → 52
    RING_Ubox; variant RING-HC finger (C4C4-type) [structural motif]
    pfam11002
    Location:54 → 95
    RDM; RFPL defining motif (RDM)
    cl17238
    Location:10 → 53
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

  4. NM_001364982.2 → NP_001351911.1  ret finger protein-like 2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL008723
    UniProtKB/TrEMBL
    Q6NSX6
    Conserved Domains (3) summary
    cd15821
    Location:115 → 292
    SPRY_PRY_RFPL; Ret finger protein-like (RFPL), includes RFP1, 2, 3, 4
    pfam11002
    Location:76 → 117
    RDM; RFPL defining motif (RDM)
    cd16621
    Location:32 → 75
    vRING-HC-C4C4_RFPL1_like; Variant RING finger, HC subclass (C4C4-type), found in Ret finger protein-like (RFPL) family

  5. NM_001364983.3 → NP_001351912.1  ret finger protein-like 2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL008723
    Conserved Domains (3) summary
    cd15821
    Location:221 → 398
    SPRY_PRY_RFPL; Ret finger protein-like (RFPL), includes RFP1, 2, 3, 4
    cd16621
    Location:138 → 181
    vRING-HC-C4C4_RFPL1_like; Variant RING finger, HC subclass (C4C4-type), found in Ret finger protein-like (RFPL) family
    pfam11002
    Location:182 → 223
    RDM; RFPL defining motif (RDM)

  6. NM_001364984.3 → NP_001351913.1  ret finger protein-like 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL008723
    UniProtKB/TrEMBL
    Q6NSX6
    Conserved Domains (4) summary
    cd15821
    Location:93 → 270
    SPRY_PRY_RFPL; Ret finger protein-like (RFPL), includes RFP1, 2, 3, 4
    cd00162
    Location:11 → 52
    RING_Ubox; variant RING-HC finger (C4C4-type) [structural motif]
    pfam11002
    Location:54 → 95
    RDM; RFPL defining motif (RDM)
    cl17238
    Location:10 → 53
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

  7. NM_001364985.3 → NP_001351914.1  ret finger protein-like 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL008723
    UniProtKB/TrEMBL
    Q6NSX6
    Conserved Domains (4) summary
    cd15821
    Location:93 → 270
    SPRY_PRY_RFPL; Ret finger protein-like (RFPL), includes RFP1, 2, 3, 4
    cd00162
    Location:11 → 52
    RING_Ubox; variant RING-HC finger (C4C4-type) [structural motif]
    pfam11002
    Location:54 → 95
    RDM; RFPL defining motif (RDM)
    cl17238
    Location:10 → 53
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

  8. NM_001364986.3 → NP_001351915.1  ret finger protein-like 2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL008723
    Conserved Domains (3) summary
    cd15821
    Location:221 → 398
    SPRY_PRY_RFPL; Ret finger protein-like (RFPL), includes RFP1, 2, 3, 4
    cd16621
    Location:138 → 181
    vRING-HC-C4C4_RFPL1_like; Variant RING finger, HC subclass (C4C4-type), found in Ret finger protein-like (RFPL) family
    pfam11002
    Location:182 → 223
    RDM; RFPL defining motif (RDM)

  9. NM_001394554.1 → NP_001381483.1  ret finger protein-like 2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL008723
    Conserved Domains (3) summary
    cd15821
    Location:221 → 398
    SPRY_PRY_RFPL; Ret finger protein-like (RFPL), includes RFP1, 2, 3, 4
    cd16621
    Location:138 → 181
    vRING-HC-C4C4_RFPL1_like; Variant RING finger, HC subclass (C4C4-type), found in Ret finger protein-like (RFPL) family
    pfam11002
    Location:182 → 223
    RDM; RFPL defining motif (RDM)

  10. NM_001394555.1 → NP_001381484.1  ret finger protein-like 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL008723
    Consensus CDS
    CCDS43009.2
    UniProtKB/Swiss-Prot
    O75678
    Related
    ENSP00000498332.1, ENST00000652607.2
    Conserved Domains (4) summary
    cd15821
    Location:183 → 360
    SPRY_PRY_RFPL; Ret finger protein-like (RFPL), includes RFP1, 2, 3, 4
    cd00162
    Location:101 → 142
    RING_Ubox; variant RING-HC finger (C4C4-type) [structural motif]
    pfam11002
    Location:144 → 185
    RDM; RFPL defining motif (RDM)
    cl17238
    Location:100 → 143
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

  11. NM_001394556.1 → NP_001381485.1  ret finger protein-like 2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL008723
    UniProtKB/TrEMBL
    Q6NSX6
    Conserved Domains (3) summary
    cd15821
    Location:97 → 274
    SPRY_PRY_RFPL; Ret finger protein-like (RFPL), includes RFP1, 2, 3, 4
    cd00162
    Location:15 → 56
    RING_Ubox; variant RING-HC finger (C4C4-type) [structural motif]
    cl17238
    Location:14 → 57
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

  12. NM_001394557.1 → NP_001381486.1  ret finger protein-like 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL008723
    UniProtKB/TrEMBL
    Q6NSX6
    Conserved Domains (4) summary
    cd15821
    Location:93 → 270
    SPRY_PRY_RFPL; Ret finger protein-like (RFPL), includes RFP1, 2, 3, 4
    cd00162
    Location:11 → 52
    RING_Ubox; variant RING-HC finger (C4C4-type) [structural motif]
    pfam11002
    Location:54 → 95
    RDM; RFPL defining motif (RDM)
    cl17238
    Location:10 → 53
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

  13. NM_001394558.1 → NP_001381487.1  ret finger protein-like 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL008723
    UniProtKB/TrEMBL
    Q6NSX6
    Conserved Domains (4) summary
    cd15821
    Location:93 → 270
    SPRY_PRY_RFPL; Ret finger protein-like (RFPL), includes RFP1, 2, 3, 4
    cd00162
    Location:11 → 52
    RING_Ubox; variant RING-HC finger (C4C4-type) [structural motif]
    pfam11002
    Location:54 → 95
    RDM; RFPL defining motif (RDM)
    cl17238
    Location:10 → 53
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

  14. NM_001394559.1 → NP_001381488.1  ret finger protein-like 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL008723
    UniProtKB/TrEMBL
    Q6NSX6
    Conserved Domains (4) summary
    cd15821
    Location:93 → 270
    SPRY_PRY_RFPL; Ret finger protein-like (RFPL), includes RFP1, 2, 3, 4
    cd00162
    Location:11 → 52
    RING_Ubox; variant RING-HC finger (C4C4-type) [structural motif]
    pfam11002
    Location:54 → 95
    RDM; RFPL defining motif (RDM)
    cl17238
    Location:10 → 53
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    32190438..32205073 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529828.3 → XP_011528130.1  ret finger protein-like 2 isoform X1

    See identical proteins and their annotated locations for XP_011528130.1

    Conserved Domains (3) summary
    cd15821
    Location:221 → 398
    SPRY_PRY_RFPL; Ret finger protein-like (RFPL), includes RFP1, 2, 3, 4
    cd16621
    Location:138 → 181
    vRING-HC-C4C4_RFPL1_like; Variant RING finger, HC subclass (C4C4-type), found in Ret finger protein-like (RFPL) family
    pfam11002
    Location:182 → 223
    RDM; RFPL defining motif (RDM)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    32654520..32669156 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324985.1 → XP_054180960.1  ret finger protein-like 2 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_006605.3: Suppressed sequence

    Description
    NM_006605.3: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75678.3 GenPept UniProtKB/Swiss-Prot:O75678

Gene LinkOut

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