Gene id
2888
Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references
Gene Summary
Gene Symbol
GRB14 Gene UCSC Ensembl
Gene name
growth factor receptor bound protein 14
Alternate names
growth factor receptor-bound protein 14, GRB14 adapter protein,
Gene location
2q24.3 (164621849: 164492405) Exons: 16 NC_000002.12
Gene summary(Entrez)
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]
OMIM
601524
Protein Summary
Protein general information
Q14449 Name: Growth factor receptor bound protein 14 (GRB14 adapter protein)Length: 540 Mass: 60,988 Tissue specificity: Expressed at high levels in the liver, kidney, pancreas, testis, ovary, heart and skeletal muscle.Sequence
MTTSLQDGQSAASRAAARDSPLAAQVCGAAQGRGDAHDLAPAPWLHARALLPLPDGTRGCAADRRKKKDLDVPEM PSIPNPFPELCCSPFTSVLSADLFPKANSRKKQVIKVYSEDETSRALDVPSDITARDVCQLLILKNHYIDDHSWT LFEHLPHIGVERTIEDHELVIEVLSNWGIEEENKLYFRKNYAKYEFFKNPMYFFPEHMVSFATETNGEISPTQIL QMFLSSSTYPEIHGFLHAKEQGKKSWKKIYFFLRRSGLYFSTKGTSKEPRHLQFFSEFGNSDIYVSLAGKKKHGA PTNYGFCFKPNKAGGPRDLKMLCAEEEQSRTCWVTAIRLLKYGMQLYQNYMHPYQGRSGCSSQSISPMRSISENS LVAMDFSGQKSRVIENPTEALSVAVEEGLAWRKKGCLRLGTHGSPTASSQSSATNMAIHRSQPWFHHKISRDEAQ RLIIQQGLVDGVFLVRDSQSNPKTFVLSMSHGQKIKHFQIIPVEDDGEMFHTLDDGHTRFTDLIQLVEFYQLNKG VLPCKLKHYCARIAL Structural information
Other Databases
GeneCards: GRB14;   Malacards: GRB14
Gene ontology
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GO accession Term name Evidence code Go category
GO:0005070
SH3/SH2 adaptor activity
IEA
molecular_function
GO:0005737
cytoplasm
IDA
cellular_component
GO:0005829
cytosol
TAS
cellular_component
GO:0005886
plasma membrane
IDA
cellular_component
GO:0007165
signal transduction
IEA
biological_process
GO:0009967
positive regulation of si gnal transduction
IEA
biological_process
GO:0010008
endosome membrane
IEA
cellular_component
GO:0043231
intracellular membrane-bo unded organelle
IDA
cellular_component
GO:0050900
leukocyte migration
TAS
biological_process
GO:0005070
SH3/SH2 adaptor activity
IEA
molecular_function
GO:0005070
SH3/SH2 adaptor activity
TAS
molecular_function
GO:0005737
cytoplasm
IEA
cellular_component
GO:0005737
cytoplasm
IEA
cellular_component
GO:0005737
cytoplasm
IDA
cellular_component
GO:0005768
endosome
IEA
cellular_component
GO:0005829
cytosol
TAS
cellular_component
GO:0005886
plasma membrane
IDA
cellular_component
GO:0007165
signal transduction
IEA
biological_process
GO:0007165
signal transduction
TAS
biological_process
GO:0009967
positive regulation of si gnal transduction
IEA
biological_process
GO:0010008
endosome membrane
IEA
cellular_component
GO:0016020
membrane
IEA
cellular_component
GO:0043231
intracellular membrane-bo unded organelle
IDA
cellular_component
GO:0050900
leukocyte migration
TAS
biological_process
GO:0005070
SH3/SH2 adaptor activity
TAS
molecular_function
GO:0005737
cytoplasm
IDA
cellular_component
GO:0005829
cytosol
TAS
cellular_component
GO:0005886
plasma membrane
IDA
cellular_component
GO:0007165
signal transduction
TAS
biological_process
GO:0043231
intracellular membrane-bo unded organelle
IDA
cellular_component
GO:0050900
leukocyte migration
TAS
biological_process
KEGG pathways
PTHR11243:SF22 Angiogenesis
Diseases
Associated diseases
References
Diabetes PMID: 21874001
Endometriosis PMID: 25296917
Subfertility INFBASE25296917
Endometriosis INFBASE25296917
PubMed references
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PMID
Condition
Mutation
Ethnicity
Population details
Infertility_type
Associated_genes
Abstract
25296917
Endometrio sis
rs12700667, WNT4 (rs7521902), rs1055144, GRB14 (rs10195252), PPARG (rs4684854), ITPR2-SSPN ( rs718314), CPEB4 (rs6861681), ADAMTS9 (rs6795735), LYPLAL1 (rs2820446 ), NISCH-STAB1 (rs498778), LY86 (rs1294421), RSPO3 (rs9491696), HOXC13 (rs1443512), TBX15-WA
Europea n
10254 (3194 cas es including 13 64 Stage B case s, 7060 control s)
GRB14 KIFAP3 WNT4 CAB39L
Show abstract