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

Gene ID: 128954, updated on 23-Nov-2021

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
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
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Genomic context

See GAB4 in Genome Data Viewer
Location:
22q11.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (16961936..17008281, complement)
105.20201022 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 immunoglobulin kappa variable 1/OR22-1 (pseudogene) Neighboring gene interleukin 9 receptor pseudogene 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

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)

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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_001037814.1NP_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
    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: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    16961936..17008281 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011546114.2XP_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_017028575.1XP_016884064.1  GRB2-associated-binding protein 4 isoform X1

  3. XM_011546115.1XP_011544417.1  GRB2-associated-binding protein 4 isoform X4

  4. XM_011546117.1XP_011544419.1  GRB2-associated-binding protein 4 isoform X7

  5. XM_017028576.1XP_016884065.1  GRB2-associated-binding protein 4 isoform X6

  6. XM_011546116.2XP_011544418.1  GRB2-associated-binding protein 4 isoform X5

    Conserved Domains (2) summary
    pfam00169
    Location:40151
    PH; PH domain
    cl17171
    Location:38158
    PH-like; Pleckstrin homology-like domain

RNA

  1. XR_951189.2 RNA Sequence

  2. XR_951190.2 RNA Sequence

  3. XR_951191.2 RNA Sequence

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