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    GAB4 GRB2 associated binding protein family member 4 [ Homo sapiens (human) ]

    Gene ID: 128954, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GAB4provided by HGNC
    Official Full Name
    GRB2 associated binding protein family member 4provided by HGNC
    Primary source
    HGNC:HGNC:18325
    See related
    Ensembl:ENSG00000215568 AllianceGenome:HGNC:18325
    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
    Predicted to enable transmembrane receptor protein tyrosine kinase adaptor activity. Predicted to be involved in signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 1.9) See more
    Orthologs
    all
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    Genomic context

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    See GAB4 in Genome Data Viewer
    Location:
    22q11.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (16961936..17008222, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (17638610..17684901, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (17442826..17489112, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene immunoglobulin kappa variable 3/OR22-2 (pseudogene) Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:17413842-17415041 Neighboring gene immunoglobulin kappa variable 1/OR22-1 (pseudogene) Neighboring gene IL9R pseudogene 6 Neighboring gene vomeronasal 1 receptor 9 pseudogene

    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 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. A systematic survey of loss-of-function variants in human protein-coding genes. MacArthur DG, et al. Science, 2012 Feb 17. PMID 22344438, Free PMC Article
    2. Identification of a large set of rare complete human knockouts. Sulem P, et al. Nat Genet, 2015 May. PMID 25807282
    3. Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. Rausell A, et al. Proc Natl Acad Sci U S A, 2020 Jun 16. PMID 32487729, Free PMC Article
    4. The mutational constraint spectrum quantified from variation in 141,456 humans. Karczewski KJ, et al. Nature, 2020 May. PMID 32461654, Free PMC Article
    5. Cullin 1 (CUL1) Promotes Primary Ciliogenesis through the Induction of Ubiquitin-Proteasome-Dependent Dvl2 Degradation. Kim SO, et al. Int J Mol Sci, 2021 Jul 15. PMID 34299191, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-02-02)

    ClinGen Genome Curation Page
    Haploinsufficency

    Dosage sensitivity unlikely (Last evaluated 2021-02-02)

    ClinGen Genome Curation PagePubMed

    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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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables transmembrane receptor protein tyrosine kinase adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell surface receptor protein tyrosine kinase signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction 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
    GRB2-associated-binding protein 4
    Names
    GRB2-associated binder 2-like protein
    GRB2-associated binder 4
    growth factor receptor bound protein 2-associated protein 4

    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_001037814.1 → NP_001032903.1  GRB2-associated-binding protein 4 isoform 1

      See identical proteins and their annotated locations for NP_001032903.1

      Status: VALIDATED

      Source sequence(s)
      AB076978
      Consensus CDS
      CCDS42976.1
      UniProtKB/Swiss-Prot
      Q2WGN9
      UniProtKB/TrEMBL
      A0A2R8Y714
      Related
      ENSP00000383431.1, ENST00000400588.5
      Conserved Domains (2) summary
      pfam00169
      Location:40 → 151
      PH; PH domain
      cl17171
      Location:38 → 158
      PH-like; Pleckstrin homology-like domain

    2. NM_001366857.1 → NP_001353786.1  GRB2-associated-binding protein 4 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC006548

    RNA

    1. NR_159481.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC006548

    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
      16961936..17008222 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011546114.3 → XP_011544416.1  GRB2-associated-binding protein 4 isoform X2

      Conserved Domains (2) summary
      pfam00169
      Location:40 → 151
      PH; PH domain
      cl17171
      Location:38 → 158
      PH-like; Pleckstrin homology-like domain

    2. XM_017028575.2 → XP_016884064.1  GRB2-associated-binding protein 4 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y714

    3. XM_047441117.1 → XP_047297073.1  GRB2-associated-binding protein 4 isoform X3

    4. XM_011546117.2 → XP_011544419.1  GRB2-associated-binding protein 4 isoform X5

    5. XM_011546116.3 → XP_011544418.1  GRB2-associated-binding protein 4 isoform X4

      Conserved Domains (2) summary
      pfam00169
      Location:40 → 151
      PH; PH domain
      cl17171
      Location:38 → 158
      PH-like; Pleckstrin homology-like domain

    RNA

    1. XR_951190.3 RNA Sequence

    2. XR_951191.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      17638610..17684901 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2WGN9.1 GenPept UniProtKB/Swiss-Prot:Q2WGN9

    Gene LinkOut

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

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