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

    Gene ID: 10739, updated on 27-Nov-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 protein homodimerization activity; protein kinase binding activity; and ubiquitin protein ligase activity. Predicted to be involved in several processes, including positive regulation of autophagy; positive regulation of canonical NF-kappaB signal transduction; and regulation of viral entry into host cell. Predicted to be active in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    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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    See RFPL2 in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (32190438..32205073, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (32654520..32669156, complement)
    RS_2024_09 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)

    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 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 regulation of gene expression 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
    		  

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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