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

Gene ID: 2888, updated on 4-Jan-2025

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; AllianceGenome:HGNC:4565
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
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Genomic context

See GRB14 in Genome Data Viewer
Location:
2q24.3
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (164492417..164621482, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (164949755..165079884, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (165348927..165477992, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16725 Neighboring gene phosphoribosyl pyrophosphate synthetase 1 pseudogene 1 Neighboring gene cytochrome P450 family 2 subfamily C member 56, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:165227718-165228219 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:165315134-165316001 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:165316002-165316868 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:165370742-165371941 Neighboring gene EIF3E pseudogene 3 Neighboring gene cordon-bleu WH2 repeat protein like 1 Neighboring gene HNF1 motif-containing MPRA enhancer 131/132 Neighboring gene small nucleolar RNA, H/ACA box 70F Neighboring gene uncharacterized LOC124906197

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in cytoplasm  
located_in cytoplasm PubMed 
located_in cytosol  
located_in endosome membrane  
located_in intracellular membrane-bounded organelle PubMed 
is_active_in plasma membrane  
located_in plasma membrane PubMed 

General protein information

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

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.

Genomic

  1. NG_052839.1 RefSeqGene

    Range
    5369..134434
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001303422.2NP_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
    Consensus CDS
    CCDS92883.1
    UniProtKB/TrEMBL
    B2R7X4
    Related
    ENSP00000512640.1, ENST00000696453.2
    Conserved Domains (4) summary
    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
    cd16139
    Location:20104
    RA_GRB14; Ras-associating (RA) domain found in growth factor receptor-bound (Grb) protein 14
    pfam08947
    Location:283327
    BPS; BPS (Between PH and SH2)
  2. NM_004490.3NP_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, AC110086, BC053559
    Consensus CDS
    CCDS2222.1
    UniProtKB/Swiss-Prot
    B7Z7F9, Q14449, Q7Z6I1
    UniProtKB/TrEMBL
    B2R7X4
    Related
    ENSP00000263915.3, ENST00000263915.8
    Conserved Domains (4) summary
    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
    cd16139
    Location:107191
    RA_GRB14; Ras-associating (RA) domain found in growth factor receptor-bound (Grb) protein 14
    pfam08947
    Location:370414
    BPS; BPS (Between PH and SH2)

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    164492417..164621482 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444013.1XP_047299969.1  growth factor receptor-bound protein 14 isoform X1

  2. XM_047444014.1XP_047299970.1  growth factor receptor-bound protein 14 isoform X2

    UniProtKB/TrEMBL
    Q53QQ0
  3. XM_011511022.2XP_011509324.1  growth factor receptor-bound protein 14 isoform X3

    UniProtKB/TrEMBL
    Q53QQ0
    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_427085.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    164949755..165079884 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054341529.1XP_054197504.1  growth factor receptor-bound protein 14 isoform X4

    UniProtKB/TrEMBL
    B2R7X4
  2. XM_054341530.1XP_054197505.1  growth factor receptor-bound protein 14 isoform X1

  3. XM_054341531.1XP_054197506.1  growth factor receptor-bound protein 14 isoform X2

    UniProtKB/TrEMBL
    Q53QQ0
  4. XM_054341532.1XP_054197507.1  growth factor receptor-bound protein 14 isoform X3

    UniProtKB/TrEMBL
    Q53QQ0

RNA

  1. XR_008486349.1 RNA Sequence

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