GRAP (GRB2 related adaptor protein)

Gene

• Entrez ID: 10750
• Gene name: GRB2 related adaptor protein
• Gene symbol: GRAP
• Synonyms: DFNB114
• Chromosome: 17
• Chromosome location: 17p11.2
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs370564476	T>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1032951	hsa-miR-125a-5p	CLIP-seq
MIRT1032952	hsa-miR-125b	CLIP-seq
MIRT1032953	hsa-miR-183	CLIP-seq
MIRT1032954	hsa-miR-188-5p	CLIP-seq
MIRT1032955	hsa-miR-2681	CLIP-seq
MIRT1032956	hsa-miR-3929	CLIP-seq
MIRT1032957	hsa-miR-4319	CLIP-seq
MIRT1032958	hsa-miR-4419b	CLIP-seq
MIRT1032959	hsa-miR-4478	CLIP-seq
MIRT1032960	hsa-miR-4663	CLIP-seq
MIRT1032961	hsa-miR-4732-3p	CLIP-seq
MIRT1032962	hsa-miR-485-5p	CLIP-seq
MIRT1032963	hsa-miR-622	CLIP-seq
MIRT1032964	hsa-miR-670	CLIP-seq
MIRT1032965	hsa-miR-767-3p	CLIP-seq
MIRT1921474	hsa-miR-1249	CLIP-seq
MIRT1921475	hsa-miR-1470	CLIP-seq
MIRT1921476	hsa-miR-4290	CLIP-seq
MIRT1921477	hsa-miR-4469	CLIP-seq
MIRT1921478	hsa-miR-4667-3p	CLIP-seq
MIRT2006448	hsa-miR-1203	CLIP-seq
MIRT2006449	hsa-miR-1258	CLIP-seq
MIRT2006450	hsa-miR-1827	CLIP-seq
MIRT2006451	hsa-miR-2682	CLIP-seq
MIRT2006452	hsa-miR-28-5p	CLIP-seq
MIRT2006453	hsa-miR-3139	CLIP-seq
MIRT2006454	hsa-miR-326	CLIP-seq
MIRT2006455	hsa-miR-330-5p	CLIP-seq
MIRT2006456	hsa-miR-3612	CLIP-seq
MIRT2006457	hsa-miR-4266	CLIP-seq
MIRT2006458	hsa-miR-449c	CLIP-seq
MIRT2006459	hsa-miR-4633-3p	CLIP-seq
MIRT2006460	hsa-miR-4743	CLIP-seq
MIRT2006461	hsa-miR-650	CLIP-seq
MIRT2006462	hsa-miR-671-5p	CLIP-seq
MIRT2006463	hsa-miR-708	CLIP-seq
MIRT2238912	hsa-miR-105	CLIP-seq
MIRT2238913	hsa-miR-146b-3p	CLIP-seq
MIRT2238914	hsa-miR-150	CLIP-seq
MIRT1032956	hsa-miR-3929	CLIP-seq
MIRT2238915	hsa-miR-4419a	CLIP-seq
MIRT1032958	hsa-miR-4419b	CLIP-seq
MIRT1032959	hsa-miR-4478	CLIP-seq
MIRT2238916	hsa-miR-4510	CLIP-seq
MIRT1032960	hsa-miR-4663	CLIP-seq
MIRT2238917	hsa-miR-4731-5p	CLIP-seq
MIRT1032962	hsa-miR-485-5p	CLIP-seq
MIRT1032963	hsa-miR-622	CLIP-seq
MIRT2450717	hsa-miR-1285	CLIP-seq
MIRT2450718	hsa-miR-1291	CLIP-seq
MIRT2450719	hsa-miR-3155	CLIP-seq
MIRT2450720	hsa-miR-3155b	CLIP-seq
MIRT2450721	hsa-miR-3187-5p	CLIP-seq
MIRT2006454	hsa-miR-326	CLIP-seq
MIRT2006455	hsa-miR-330-5p	CLIP-seq
MIRT2450722	hsa-miR-378g	CLIP-seq
MIRT2450723	hsa-miR-4486	CLIP-seq
MIRT2450724	hsa-miR-484	CLIP-seq
MIRT2450725	hsa-miR-612	CLIP-seq
MIRT2450726	hsa-miR-760	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25036101, 25416956, 32296183, 32814053
GO:0005737	Component	Cytoplasm	TAS	8647802
GO:0005829	Component	Cytosol	TAS
GO:0007265	Process	Ras protein signal transduction	TAS	8647802
GO:0007267	Process	Cell-cell signaling	TAS	8647802
GO:0007605	Process	Sensory perception of sound	IDA	30610177
GO:0016020	Component	Membrane	IEA
GO:0098793	Component	Presynapse	ISS

Other IDs

• MIM: 604330
• HGNC: 4562
• e!Ensembl: ENSG00000154016

Protein

• UniProt ID: Q13588
• Protein name: GRB2-related adapter protein
• Protein function: 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).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00018	SH3_1	4 → 50	SH3 domain	Domain
  PF00017	SH2	60 → 135	SH2 domain	Domain
  PF00018	SH3_1	164 → 209	SH3 domain	Domain

• Sequence:

  MESVALYSFQATESDELAFNKGDTLKILNMEDDQNWYKAELRGVEGFIPKNYIRVKPHPW
  YSGRISRQLAEEILMKRNHLGAFLIRESESSPGEFSVSVNYGDQVQHFKVLREASGKYFL
  WEEKFNSLNELVDFYRTTTIAKKRQIFLRDEEPLLKSPGACFAQAQFDFSAQDPSQLSFR
  RGDIIEVLERPDPHWWRGRSCGRVGFFPRSYVQPVHL

• Sequence length: 217

Pathways

Reactome:

Signaling by SCF-KIT

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060

Unknown
Disease name	Disease term	dbSNP ID	References
Non-syndromic sensorineural deafness	Autosomal recessive non-syndromic sensorineural deafness type DFNB