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

Gene ID: 128954, updated on 17-Sep-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
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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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

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