1. Gene
  2. ROR2 - receptor tyrosine kinase like orphan receptor 2 Gene

ROR2 - receptor tyrosine kinase like orphan receptor 2 Gene

中文名称:受体酪氨酸激酶样孤儿受体 2

种属: Homo sapiens

同用名: BDB; BDB1; NTRKR2

基因 ID: 4920 | 基因类型: protein coding

关于 ROR2

Cytogenetic location: 9q22.31 Genomic coordinates (GRCh38): 9:91,722,601-91,950,228 (from NCBI)

This gene has 8 transcripts (splice variants), 195 orthologues, 53 paralogues and is associated with 6 phenotypes. Broad expression in endometrium (RPKM 5.4), gall bladder (RPKM 3.7) and 18 other tissues.

功能概要

该基因编码的蛋白是受体蛋白酪氨酸激酶和 I 型跨膜蛋白,属于细胞表面受体 ROR 亚家族。该蛋白质可能参与软骨细胞的早期形成,并且可能是软骨和生长板发育所必需的。该基因的突变可导致 B 型短指畸形,这是一种以远端指骨和指甲发育不全/发育不全为特征的骨骼疾病。此外,该基因的突变可导致罗宾诺综合征的常染色体隐性遗传形式,其特征是骨骼发育不良,伴有全身性肢骨缩短、脊柱节段性缺陷、短指畸形和面部外观畸形。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. [provided by RefSeq, Jul 2008]

ROR2 基因产物(2)

mRNA Protein Name
NM_001318204.2 NP_001305133.1 tyrosine-protein kinase transmembrane receptor ROR2 isoform 2 precursor
NM_004560.4 NP_004551.2 tyrosine-protein kinase transmembrane receptor ROR2 isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables Wnt-protein binding IPI
IPI: 通过物理相互作用推断
19486338 GOA
enables mitogen-activated protein kinase kinase kinase binding IPI
IPI: 通过物理相互作用推断
18762249 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22939624 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of cell migration IDA
IDA: 通过直接分析推断
19486338 GOA
involved in signal transduction IMP
IMP: 通过突变表型推断
19486338 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

ROR2 蛋白结构

I-set

I-set: Immunoglobulin I-set domain (64 - 150)

Fz

Fz: Fz domain (174 - 301)

Kringle

Kringle: Kringle domain (316 - 394)

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (474 - 746)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 943 a.a.
蛋白主名 其他名称

tyrosine-protein kinase transmembrane receptor ROR2

neurotrophic tyrosine kinase receptor-related 2

ROR2 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
ROR2 Q01974 ALG13 Homo sapiens Q9NP73-4
Validated Y2H
32296183
种属内
ROR2 Q01974 ALG13 Homo sapiens Q9NP73-4
Y2H Array
32296183
种属内
ROR2 Q01974 ALG13 Homo sapiens Q9NP73-4
Y2H Prey Pooling
32296183
种属内
ROR2 Q01974 KRTAP19-7 Homo sapiens Q3SYF9
Y2H Prey Pooling
32296183
种属内
ROR2 Q01974 KRTAP19-7 Homo sapiens Q3SYF9
Validated Y2H
32296183
种属内
ROR2 Q01974 KRTAP19-7 Homo sapiens Q3SYF9
Y2H Array
32296183
种属内
ROR2 Q01974 LHX6 Homo sapiens Q9UPM6
Validated Y2H
32296183
种属内
ROR2 Q01974 LHX6 Homo sapiens Q9UPM6
Y2H Prey Pooling
32296183
种属内
ROR2 Q01974 LHX6 Homo sapiens Q9UPM6
Y2H Array
32296183
种属内
ROR2 Q01974 KRTAP6-2 Homo sapiens Q3LI66
Y2H Array
32296183
种属内
ROR2 Q01974 KRTAP6-2 Homo sapiens Q3LI66
Y2H Prey Pooling
32296183
种属内
ROR2 Q01974 KRTAP6-2 Homo sapiens Q3LI66
Validated Y2H
32296183
种属内
ROR2 Q01974 ACTMAP Homo sapiens Q5BKX5-3
Validated Y2H
32296183
种属内
ROR2 Q01974 ACTMAP Homo sapiens Q5BKX5-3
Y2H Prey Pooling
32296183
种属内
ROR2 Q01974 ACTMAP Homo sapiens Q5BKX5-3
Y2H Array
32296183
种属内
ROR2 Q01974 FAM168B Homo sapiens A1KXE4-2
Y2H Array
32296183
种属内
ROR2 Q01974 FAM168B Homo sapiens A1KXE4-2
Y2H Prey Pooling
32296183
种属内
ROR2 Q01974 PRR20D Homo sapiens P86480
Y2H Array
32296183
种属内
ROR2 Q01974 PRR20D Homo sapiens P86480
Y2H Prey Pooling
32296183
种属内
ROR2 Q01974 C10orf55 Homo sapiens Q5SWW7
Validated Y2H
32296183
种属内
ROR2 Q01974 C10orf55 Homo sapiens Q5SWW7
Y2H Array
32296183
种属内
ROR2 Q01974 C10orf55 Homo sapiens Q5SWW7
Y2H Prey Pooling
32296183
种属内
ROR2 Q01974 CREM Homo sapiens Q03060-25
Y2H Prey Pooling
32296183
种属内
ROR2 Q01974 CREM Homo sapiens Q03060-25
Validated Y2H
32296183
种属内
ROR2 Q01974 CREM Homo sapiens Q03060-25
Y2H Array
32296183
种属内
ROR2 Q01974 KIAA1218 Homo sapiens A4D0Q3
Y2H Array
32296183
种属内
ROR2 Q01974 KIAA1218 Homo sapiens A4D0Q3
Y2H Prey Pooling
32296183
种属内
ROR2 Q01974 PRR23E Homo sapiens Q8N813
Validated Y2H
32296183
种属内
ROR2 Q01974 KRTAP7-1 Homo sapiens Q8IUC3
Validated Y2H
32296183
种属内
ROR2 Q01974 KRTAP7-1 Homo sapiens Q8IUC3
Y2H Array
32296183
种属内
ROR2 Q01974 KRTAP7-1 Homo sapiens Q8IUC3
Y2H Prey Pooling
32296183
种属内
ROR2 Q01974 FOSB Homo sapiens P53539
Y2H Prey Pooling
32296183
种属内
ROR2 Q01974 FOSB Homo sapiens P53539
Y2H Array
32296183
种属内
ROR2 Q01974 HSP90AB1 Homo sapiens P08238
Lumier
22939624
种属内
ROR2 Q01974 STOX1 Homo sapiens Q6ZVD7
Validated Y2H
32296183
种属内
ROR2 Q01974 STOX1 Homo sapiens Q6ZVD7
Y2H Array
32296183
种属内
ROR2 Q01974 STOX1 Homo sapiens Q6ZVD7
Y2H Prey Pooling
32296183
种属内
ROR2 Q01974 ISX Homo sapiens Q2M1V0
Validated Y2H
32296183
种属内
ROR2 Q01974 MSX2 Homo sapiens P35548
Y2H Array
32296183
种属内
ROR2 Q01974 MSX2 Homo sapiens P35548
Y2H Prey Pooling
32296183
种属内
ROR2 Q01974 BHLHE40 Homo sapiens O14503
Y2H Prey Pooling
32296183
种属内
ROR2 Q01974 BHLHE40 Homo sapiens O14503
Y2H Array
32296183
种属内
ROR2 Q01974 DAZAP2 Homo sapiens Q15038
Y2H Array
32296183
种属内
ROR2 Q01974 DAZAP2 Homo sapiens Q15038
Y2H Prey Pooling
32296183
种属内
ROR2 Q01974 DAZAP2 Homo sapiens Q15038
Validated Y2H
32296183
种属内
ROR2 Q01974 PLA2G10 Homo sapiens O15496
Y2H Array
32296183
种属内
ROR2 Q01974 PLA2G10 Homo sapiens O15496
Y2H Prey Pooling
32296183
种属内
ROR2 Q01974 CRX Homo sapiens O43186
Y2H Array
32296183
种属内
ROR2 Q01974 CRX Homo sapiens O43186
Y2H Prey Pooling
32296183
种属内
ROR2 Q01974 CRX Homo sapiens O43186
Y2H Array
31515488
种属内
ROR2 Q01974 SOX14 Homo sapiens O95416
Y2H Prey Pooling
32296183
种属内
ROR2 Q01974 SOX14 Homo sapiens O95416
Y2H Array
32296183
种属内
ROR2 Q01974 POU2AF1 Homo sapiens Q16633
Validated Y2H
32296183
种属内
ROR2 Q01974 POU2AF1 Homo sapiens Q16633
Y2H Array
32296183
种属内
ROR2 Q01974 POU2AF1 Homo sapiens Q16633
Y2H Prey Pooling
32296183
种属内
ROR2 Q01974 C1orf94 Homo sapiens Q6P1W5
Y2H Prey Pooling
32296183
种属内
ROR2 Q01974 C1orf94 Homo sapiens Q6P1W5
Validated Y2H
32296183
种属内
ROR2 Q01974 C1orf94 Homo sapiens Q6P1W5
Y2H Array
32296183
种属内
ROR2 Q01974 ARID5A Homo sapiens Q03989
Validated Y2H
32296183
种属内
ROR2 Q01974 ARID5A Homo sapiens Q03989
Y2H Prey Pooling
32296183
种属内
ROR2 Q01974 ARID5A Homo sapiens Q03989
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 ROR2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71263 ROR2 Protein, Human (HEK293, His) Q01974 (E34-G403) ≥95%

关联疾病

疾病名称 别名
Robinow Syndrome, Autosomal Recessive 1

Robinow Syndrome, Autosomal Recessive

Autosomal Recessive Robinow Syndrome

Covesdem Syndrome

RRS1

Costovertebral Segmentation Defect-Mesomelia Syndrome

Rrs

Costovertebral Segmentation Defect With Mesomelia, Formerly

Covesdem Syndrome, Formerly

Costovertebral Segmentation Defect With Mesomelia

Robinow Syndrome Autosomal Recessive With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals

Robinow Syndrome Autosomal Recessive With Brachy-Syn-Polydactyly

Robinow Syndrome, Autosomal Recessive, With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals

Robinow Syndrome, Autosomal Recessive, With Brachy-Syn-Polydactyly

Robinow, Autosomal Recessive Syndrome, Type 1

Brachydactyly, Type B1

Brachydactyly Type B1

Brachydactyly Type B

BDB1

Brachydactyly, Type B

Bdb

Brachydactyly B1

Robinow Syndrome

Acral Dysostosis With Facial And Genital Abnormalities

Fetal Face Syndrome

Robinow Dwarfism

Mesomelic Dwarfism-Small Genitalia Syndrome

Robinow-Silverman-Smith Syndrome

Costovertebral Segmentation Defect With Mesomelia

Covesdem Syndrome

Robinow'S Syndrome

Robinow-Silverman Syndrome

Brachydactyly
Proximal Symphalangism

Cushing'S Symphalangism

Symphalangism, Proximal

Hereditary Absence Of Proximal Interphalangeal Joints

Strasburger-Hawkins-Eldridge Syndrome

Strasburger-Hawkins-Eldridge-Hargrave-Mckusick Syndrome

Symphalangism, Proximal, 1a

Symphalangism, Proximal, 1b

Vessel'S Syndrome

Symphalangism, Cushing Type

Basal Cell Nevus Syndrome

Nevoid Basal Cell Carcinoma Syndrome

Gorlin Syndrome

Nbccs

BCNS

Gorlin-Goltz Syndrome

Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies

Cerebral Gigantism Jaw Cysts

Cramer Niederdellmann Syndrome

Gorlin Syndrome Or Gorlin-Goltz Syndrome

Naevoid Basal Cell Carcinoma Syndrome

Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence

Fads

Fetal Akinesia Sequence

FADS1

Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia

Pena-Shokeir Syndrome Type 1

Fetal Akinesia Deformation Sequence Syndrome

Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome

Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia

Pena-Shokeir Syndrome, Type I

Foetal Akinesia Deformation Sequence Syndrome

Foetal Akinesia Sequence

Fetal Akinesia Deformation Sequence Syndrome 1

Pena-Shokeir Syndrome, Type 1

Pena Shokeir Syndrome, Type 1

Akinesia, Fetal, Deformation Sequence

Akinesia, Fetal, Deformation Sequence, Type 1

Pena-Shokeir Syndrome Type I

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita

Arthrogryposis

Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome

Amc

Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]

Autosomal Dominant Robinow Syndrome

Fetal Face Syndrome

Robinow Syndrome, Autosomal Dominant

Brachydactyly, Type C

Brachydactyly Type C

BDC

Brachydactyly Haws Type

Brachydactyly, Haws Type

Brachydactyly C

Fallopian Tube Serous Adenocarcinoma
Brachydactyly, Type B2

Brachydactyly Type B2

BDB2

Brachydactyly B2

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

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
Canis familiaris ROR2 VGNC VGNC:45694
Felis catus ROR2 VGNC VGNC:64720
Mus musculus ROR2 MGD MGI:1347521
Bos taurus ROR2 VGNC VGNC:34087
Rattus norvegicus ROR2 RGD RGD:1305275
Macaca mulatta ROR2 VGNC VGNC:76716
Macaca fascicularis ROR2 NCBI NCBI:102118636
Others ROR2 NCBI