1. Gene
  2. DAB2 - DAB adaptor protein 2 Gene

DAB2 - DAB adaptor protein 2 Gene

中文名称:DAB 衔接蛋白 2

种属: Homo sapiens

同用名: DOC2; DOC-2

基因 ID: 1601 | 基因类型: protein coding

关于 DAB2

Cytogenetic location: 5p13.1 Genomic coordinates (GRCh38): 5:39,371,677-39,424,980 (from NCBI)

This gene has 17 transcripts (splice variants), 291 orthologues and 11 paralogues. Broad expression in placenta (RPKM 111.0), kidney (RPKM 73.8) and 20 other tissues.

功能概要

该基因编码丝裂原反应性磷蛋白。它在正常卵巢上皮细胞中表达,但在卵巢癌细胞系中表达下调或缺失,表明其作为肿瘤抑制因子的作用。该蛋白结合 GRB2 的 SH3 结构域,GRB2 是一种衔接蛋白,可通过其 C 末端富含脯氨酸的序列将酪氨酸激酶受体与 SOS (Ras 的鸟嘌呤核苷酸交换因子) 偶联,因此可以通过以下方式调节生长因子/Ras 通路与 SOS 竞争与 GRB2 的结合。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2011 年 10 月]

This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

DAB2 基因产物(2)

mRNA Protein Name
NM_001244871.2 NP_001231800.1 disabled homolog 2 isoform 2
NM_001343.4 NP_001334.2 disabled homolog 2 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables SMAD binding IDA
IDA: 通过直接分析推断
11387212 GOA
enables cargo receptor activity IMP
IMP: 通过突变表型推断
16984970 GOA
enables clathrin adaptor activity IMP
IMP: 通过突变表型推断
16984970 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11387212 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
NOT involved in integrin-mediated signaling pathway IMP
IMP: 通过突变表型推断
19581412 GOA
involved in leading edge cell differentiation IMP
IMP: 通过突变表型推断
19581412 GOA
involved in negative regulation of androgen receptor signaling pathway IMP
IMP: 通过突变表型推断
16267015 GOA
involved in negative regulation of apoptotic process IDA
IDA: 通过直接分析推断
15734730 GOA
involved in negative regulation of canonical Wnt signaling pathway IMP
IMP: 通过突变表型推断
12805222 GOA
involved in negative regulation of protein binding IMP
IMP: 通过突变表型推断
12805222 GOA
involved in negative regulation of protein localization to plasma membrane IMP
IMP: 通过突变表型推断
19581412 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
12805222 GOA
involved in positive regulation of SMAD protein signal transduction IDA
IDA: 通过直接分析推断
11387212 GOA
involved in positive regulation of Wnt signaling pathway, planar cell polarity pathway IMP
IMP: 通过突变表型推断
12805222 GOA
involved in positive regulation of cell migration IMP
IMP: 通过突变表型推断
19581412 GOA
involved in positive regulation of clathrin-dependent endocytosis IMP
IMP: 通过突变表型推断
16984970 GOA
involved in positive regulation of early endosome to late endosome transport IMP
IMP: 通过突变表型推断
21995445 GOA
involved in positive regulation of endocytosis IMP
IMP: 通过突变表型推断
19581412 GOA
involved in positive regulation of epithelial to mesenchymal transition IDA
IDA: 通过直接分析推断
15734730 GOA
involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
12805222 GOA
involved in positive regulation of protein phosphorylation IMP
IMP: 通过突变表型推断
12805222 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
12805222 GOA
involved in transforming growth factor beta receptor signaling pathway IDA
IDA: 通过直接分析推断
11387212 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in clathrin-coated pit IDA
IDA: 通过直接分析推断
12857860 GOA
located in clathrin-coated vesicle IDA
IDA: 通过直接分析推断
19581412 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

DAB2 蛋白结构

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (50 - 175)

  • 0
  • 200
  • 400
  • 600
  • 770 a.a.
蛋白主名 其他名称

disabled homolog 2

DAB2, clathrin adaptor protein

DAB2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
DAB2 P98082 SMAD2 Homo sapiens Q15796 11387212
种属内
DAB2 P98082 SMAD2 Homo sapiens Q15796 11387212
种属内
DAB2 P98082 SMAD3 Homo sapiens P84022 11387212
种属内
DAB2 P98082 SMAD3 Homo sapiens P84022 11387212
种属内
DAB2 P98082 NCK1 Homo sapiens P16333 17474147
种属内
DAB2 P98082 GRB2 Homo sapiens P62993 17474147
种属内
DAB2 P98082 GRB2 Homo sapiens P62993 20936779
种属内
DAB2 P98082 LRP6 Homo sapiens O75581 22491013
种属间: 跨种属相互作用 种属内: 同种属相互作用

DAB2 抗体

目录号 产品名 应用 反应物种
HY-P83107 DAB2 Antibody (YA2852) WB, IHC-P, IP Human

关联疾病

疾病名称 别名
Teratocarcinoma

Mixed Embryonal Carcinoma And Teratoma

Hypercholesterolemia, Familial, 4

Hypercholesterolemia, Autosomal Recessive

Arh

FHCL4

Autosomal Recessive Hypercholesterolemia

Arh1

Arh2

Autosomal Recessive Hypercholesterolemia 1

Autosomal Recessive Hypercholesterolemia 2

Fhcb1

Fhcb2

Hypercholesterolemia, Autosomal Recessive, 1, Formerly

Arh1, Formerly

Fhcb1, Formerly

Hypercholesterolemia, Autosomal Recessive, 2, Formerly

Arh2, Formerly

Fhcb2, Formerly

Familial Autosomal Recessive Hypercholesterolemia

Hypercholesterolemia, Familial, Autosomal Recessive

Hypercholesterolemia, Familial, Type 4

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Lactocele

Galactocele

Galactocoele

Lacteal Cyst

Macular Degeneration, Age-Related, 4

Age Related Macular Degeneration 4

ARMD4

Macular Degeneration, Age-Related, Type 4

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Deafness, Autosomal Recessive 17

DFNB17

Autosomal Recessive Nonsyndromic Deafness 17

Autosomal Recessive Deafness 17

Donnai-Barrow Syndrome

Faciooculoacousticorenal Syndrome

Dbs/Foar Syndrome

Foar Syndrome

Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome

Facio-Oculo-Acoustico-Renal Syndrome

Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria

Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome

Holmes-Schepens Syndrome

Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness

DBS

Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria

Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis

Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome

Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss

Donnai Barrow Syndrome

Cervical Non-Keratinizing Squamous Cell Carcinoma
Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia

Familial Hyperbetalipoproteinaemia

Familial Hypercholesteremia

Fredrickson Type Iia Hyperlipoproteinemia

Fredrickson Type Iia Lipidaemia

Hyperbetalipoproteinemia

Type Ii Hyperlipidemia

Familial Hypercholesterolæmia

Familial Hypercholesterolaemia

Fh

Hypercholesterolemia Familial

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus DAB2 RGD RGD:621007
Mus musculus DAB2 MGD MGI:109175
Canis familiaris DAB2 VGNC VGNC:39759
Bos taurus DAB2 VGNC VGNC:27865
Felis catus DAB2 VGNC VGNC:61329
Macaca mulatta DAB2 VGNC VGNC:71724