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GRB14 growth factor receptor bound protein 14 [ Homo sapiens (human) ]

Gene ID: 2888, updated on 12-Jan-2019

Summary

Official Symbol
GRB14provided by HGNC
Official Full Name
growth factor receptor bound protein 14provided by HGNC
Primary source
HGNC:HGNC:4565
See related
Ensembl:ENSG00000115290 MIM:601524
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. This protein likely has an inhibitory effect on receptor tyrosine kinase signaling and, in particular, on insulin receptor signaling. This gene may play a role in signaling pathways that regulate growth and metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Expression
Biased expression in kidney (RPKM 7.9), liver (RPKM 7.8) and 12 other tissues See more
Orthologs

Genomic context

See GRB14 in Genome Data Viewer
Location:
2q24.3
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (164492406..164622959, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (165349323..165478360, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene phosphoribosyl pyrophosphate synthetase 1 pseudogene 1 Neighboring gene cytochrome P450 family 2 subfamily C member 56, pseudogene Neighboring gene eukaryotic translation initiation factor 3 subunit E pseudogene 3 Neighboring gene HNF1 motif-containing MPRA enhancer 131/132 Neighboring gene small nucleolar RNA, H/ACA box 70F Neighboring gene cordon-bleu WH2 repeat protein like 1

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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
NHGRI GWA Catalog
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
NHGRI GWA Catalog
Genome-wide association of lipid-lowering response to statins in combined study populations.
NHGRI GWA Catalog
Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci.
NHGRI GWA Catalog
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
NHGRI GWA Catalog
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
NHGRI GWA Catalog
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3/SH2 adaptor activity IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein homodimerization activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
receptor tyrosine kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
leukocyte migration TAS
Traceable Author Statement
more info
 
negative regulation of insulin receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endosome membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
growth factor receptor-bound protein 14
Names
GRB14 adapter protein

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_052839.1 RefSeqGene

    Range
    5001..134038
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001303422.1NP_001290351.1  growth factor receptor-bound protein 14 isoform 2

    See identical proteins and their annotated locations for NP_001290351.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC107075, AK301961, CN266581, DB560753, DC359097
    UniProtKB/Swiss-Prot
    Q14449
    Conserved Domains (5) summary
    cd01787
    Location:20103
    GRB7_RA; RA (RAS-associated like) domain of Grb7
    cd10414
    Location:346453
    SH2_Grb14; Src homology 2 (SH2) domain found in the growth factor receptor bound, subclass 14 (Grb14) proteins
    cd01259
    Location:143264
    PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
    pfam00169
    Location:148255
    PH; PH domain
    pfam08947
    Location:283327
    BPS; BPS (Between PH and SH2)
  2. NM_004490.2NP_004481.2  growth factor receptor-bound protein 14 isoform 1

    See identical proteins and their annotated locations for NP_004481.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC107075, BC053559
    Consensus CDS
    CCDS2222.1
    UniProtKB/Swiss-Prot
    Q14449
    Related
    ENSP00000263915.3, ENST00000263915.7
    Conserved Domains (4) summary
    cd01787
    Location:106190
    GRB7_RA; RA (RAS-associated like) domain of Grb7
    cd10414
    Location:433540
    SH2_Grb14; Src homology 2 (SH2) domain found in the growth factor receptor bound, subclass 14 (Grb14) proteins
    cd01259
    Location:230351
    PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
    pfam08947
    Location:370414
    BPS; BPS (Between PH and SH2)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    164492406..164622959 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452815.1XP_024308583.1  growth factor receptor-bound protein 14 isoform X1

    Conserved Domains (4) summary
    cd01787
    Location:32116
    GRB7_RA; RA (RAS-associated like) domain of Grb7
    cd10414
    Location:359466
    SH2_Grb14; Src homology 2 (SH2) domain found in the growth factor receptor bound, subclass 14 (Grb14) proteins
    cd01259
    Location:156277
    PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
    pfam08947
    Location:296340
    BPS; BPS (Between PH and SH2)
  2. XM_024452816.1XP_024308584.1  growth factor receptor-bound protein 14 isoform X1

    Conserved Domains (4) summary
    cd01787
    Location:32116
    GRB7_RA; RA (RAS-associated like) domain of Grb7
    cd10414
    Location:359466
    SH2_Grb14; Src homology 2 (SH2) domain found in the growth factor receptor bound, subclass 14 (Grb14) proteins
    cd01259
    Location:156277
    PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
    pfam08947
    Location:296340
    BPS; BPS (Between PH and SH2)
  3. XM_017003899.1XP_016859388.1  growth factor receptor-bound protein 14 isoform X2

    Conserved Domains (4) summary
    cd10414
    Location:233340
    SH2_Grb14; Src homology 2 (SH2) domain found in the growth factor receptor bound, subclass 14 (Grb14) proteins
    cd01259
    Location:30151
    PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
    pfam00169
    Location:35142
    PH; PH domain
    pfam08947
    Location:170214
    BPS; BPS (Between PH and SH2)
  4. XM_011511022.2XP_011509324.1  growth factor receptor-bound protein 14 isoform X3

    Conserved Domains (3) summary
    cd01787
    Location:106190
    GRB7_RA; RA (RAS-associated like) domain of Grb7
    cd01259
    Location:230309
    PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
    pfam00169
    Location:235310
    PH; PH domain

RNA

  1. XR_427085.3 RNA Sequence

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