• Gene id: 10750

Gene Summary

• Gene Symbol: GRAP   Gene   UCSC   Ensembl
• Aliases: DFNB114
• Gene name: GRB2 related adaptor protein
• Alternate names: GRB2-related adapter protein, growth factor receptor-bound protein 2-related adaptor protein,
• Gene location: 17p11.2 (19046956: 19020655)     Exons: 5     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of the GRB2/Sem5/Drk family and functions as a cytoplasmic signaling protein which contains an SH2 domain flanked by two SH3 domains. The SH2 domain interacts with ligand-activated receptors for stem cell factor and erythropoiet

Protein Summary

• Protein general information: Q13588  
  • Name: GRB2 related adapter protein
  • Length: 217  
  • Mass: 25337
• Sequence:

  MESVALYSFQATESDELAFNKGDTLKILNMEDDQNWYKAELRGVEGFIPKNYIRVKPHPWYSGRISRQLAEEILM
  KRNHLGAFLIRESESSPGEFSVSVNYGDQVQHFKVLREASGKYFLWEEKFNSLNELVDFYRTTTIAKKRQIFLRD
  EEPLLKSPGACFAQAQFDFSAQDPSQLSFRRGDIIEVLERPDPHWWRGRSCGRVGFFPRSYVQPVHL

• Structural information:
  • Protein Domains: (1..5-)
    (/note="SH3-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (60..15-)
    (/note="SH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191-)
    (158..21-)
    (/note="SH3-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR035645  IPR000980  IPR036860  IPR036028  IPR001452  
  • Prosite: PS50001 PS50002
  • CDD: cd11948
  • STRING: ENSP00000284154
• Other Databases: GeneCards:  GRAP  Malacards:  GRAP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007605	sensory perception of sound	IDA	biological process
GO:0098793	presynapse	ISS	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0007265	Ras protein signal transduction	TAS	biological process
GO:0007267	cell-cell signaling	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881