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

    Gene ID: 128954, updated on 11-Apr-2024

    Summary

    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
    Expression
    Restricted expression toward testis (RPKM 1.9) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See GAB4 in Genome Data Viewer
    Location:
    22q11.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (16961936..17008222, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (17638610..17684901, complement)
    105.20220307 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

    Expression

    • 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

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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

    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)

    NEW Try the new Transcript table

    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_001037814.1NP_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:40151
      PH; PH domain
      cl17171
      Location:38158
      PH-like; Pleckstrin homology-like domain
    2. NM_001366857.1NP_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_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
      16961936..17008222 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (2) summary
      pfam00169
      Location:40151
      PH; PH domain
      cl17171
      Location:38158
      PH-like; Pleckstrin homology-like domain
    2. XM_017028575.2XP_016884064.1  GRB2-associated-binding protein 4 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y714
    3. XM_047441117.1XP_047297073.1  GRB2-associated-binding protein 4 isoform X3

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

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

      Conserved Domains (2) summary
      pfam00169
      Location:40151
      PH; PH domain
      cl17171
      Location:38158
      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)