Endometriosis Knowledgebase

Search Result

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

Protein Domains	Ras-associating. (106-192) PH. (234-342) SH2. (439-535)
Interpro:	IPR015042 IPR011993 IPR001849 IPR000159 IPR000980 IPR029071
Prosite:	PS50003 PS50200 PS50001
Pfam:	PF08947 PF00169 PF00788 PF00017
PDB:	2AUG 2AUH 4K81
PDBsum:	2AUG 2AUH 4K81
DIP:	42605
MINT:	1894128
STRING:	ENSP00000263915;

Other Databases

GeneCards: GRB14; Malacards: GRB14

Gene ontology

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

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