2. Gene
  3. GRAP - GRB2 related adaptor protein Gene

GRAP - GRB2 related adaptor protein Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：GRB2 相关衔接蛋白

种属: Homo sapiens

同用名: DFNB114

基因 ID: 10750 | 基因类型: protein coding

关于 GRAP

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:19,020,656-19,051,373 (from NCBI)

This gene has 5 transcripts (splice variants), 253 orthologues, 9 paralogues and is associated with 2 phenotypes. Broad expression in lymph node (RPKM 19.4), spleen (RPKM 17.2) and 19 other tissues.

功能概要

该基因编码 GRB2/Sem5/Drk 家族的一个成员，作为一种细胞质信号蛋白发挥作用，其中包含一个 SH2 结构域，两侧是两个 SH3 结构域。 SH2 结构域与干细胞因子和促红细胞生成素的配体激活受体相互作用，并促进与 Bcr-Abl 癌蛋白形成稳定的复合物。这种蛋白质还通过其 N 末端 SH3 结构域与 Ras 鸟嘌呤核苷酸交换因子 SOS1 (sevenless 同源物 1 的儿子) 相关联。通常，它将来自受体和细胞质酪氨酸激酶的信号耦合到 Ras 信号通路。[RefSeq 提供，2012 年 7 月]

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]

GRAP 基因产物(2)

mRNA Protein Name
NM_001330148.2 NP_001317077.1 GRB2-related adapter protein isoform 2
NM_006613.4 NP_006604.1 GRB2-related adapter protein isoform 1

GRAP 蛋白结构

SH3_1

SH3_1: SH3 domain (4 - 49)

SH2

SH2: SH2 domain (60 - 135)

SH3_2

SH3_2: Variant SH3 domain (163 - 215)

  • 0
  • 100
  • 200
  • 217 a.a.
蛋白主名 其他名称

GRB2-related adapter protein

growth factor receptor-bound protein 2-related adaptor protein

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 114

DFNB114

Autosomal Recessive Nonsyndromic Deafness 114

Autosomal Recessive Deafness 114

Deafness, Autosomal Recessive, 114
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Mucocele Of Salivary Gland

Ranula

Salivary Cyst

Salivary Gland Mucocele

Mucous Retention Cyst Of Salivary Gland

Retention Cyst Of Salivary Gland

Sialocele

Cyst Of Salivary Gland Or Duct

Extravasation Cyst Of Salivary Gland
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

相关产品

Pre-clinical Phase
生物活性分子 (5)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-158820 Cosdosiran / 否
HY-158820A Cosdosiran sodium / 否
HY-E70364 IgdE protease / 否
HY-RS05775 GRAP Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS05776 GRAP2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus GRAP MGD MGI:1918770
Felis catus GRAP VGNC VGNC:81198
Rattus norvegicus GRAP RGD RGD:1306884
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