GRAP gene

GRB2 related adaptor protein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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 erythropoietin, and facilitates the formation of a stable complex with the BCR-ABL oncoprotein. This protein also associates with the Ras guanine nucleotide exchange factor SOS1 (son of sevenless homolog 1) through its N-terminal SH3 domain. In general, it couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. [provided by RefSeq, Jul 2012]

From UniProt:

Couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. Plays a role in the inner ear and in hearing (PubMed:30610177).

From NCBI Gene:

  • DEAFNESS, AUTOSOMAL RECESSIVE 114

From UniProt:

Deafness, autosomal recessive, 114 (DFNB114): A form of non-syndromic deafness characterized by congenital profound sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [MIM:618456]

Cytogenetic Location: 17p11.2, which is the short (p) arm of chromosome 17 at position 11.2

Molecular Location: base pairs 19,020,656 to 19,046,957 on chromosome 17 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 17p11.2, which is the short (p) arm of chromosome 17 at position 11.2
  • DFNB114