1. Gene
  2. CDH11 - cadherin 11 Gene

CDH11 - cadherin 11 Gene

中文名称:钙粘蛋白 11

种属: Homo sapiens

同用名: OB; ESWS; CAD11; CDHOB; OSF-4; TBHS2

基因 ID: 1009 | 基因类型: protein coding

关于 CDH11

Cytogenetic location: 16q21 Genomic coordinates (GRCh38): 16:64,943,753-65,123,744 (from NCBI)

This gene has 19 transcripts (splice variants), 223 orthologues, 33 paralogues and is associated with 98 phenotypes. Broad expression in ovary (RPKM 46.8), placenta (RPKM 33.6) and 14 other tissues.

功能概要

该基因编码来自钙粘蛋白超家族的 II 型经典钙粘蛋白,即介导钙依赖性细胞粘附的整合膜蛋白。成熟的钙粘蛋白由一个大的 N 末端胞外结构域、一个单一的跨膜结构域和一个小的、高度保守的 C 末端胞质结构域组成。 II 型 (非典型) 钙粘蛋白是根据它们缺乏 I 型钙粘蛋白特有的 HAV 细胞粘附识别序列来定义的。这种特殊钙粘蛋白在成骨细胞系中的表达及其在分化过程中的上调表明在骨骼发育和维持中具有特定功能。[RefSeq 提供,2008 年 7 月]

This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) Cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I Cadherins. Expression of this particular cadherin in osteoblastic cell lines, and its upregulation during differentiation, suggests a specific function in bone development and maintenance. [provided by RefSeq, Jul 2008]

CDH11 基因产物(3)

mRNA Protein Name
NM_001308392.2 NP_001295321.1 cadherin-11 isoform 2 precursor
NM_001330576.2 NP_001317505.1 cadherin-11 isoform 3
NM_001797.4 NP_001788.2 cadherin-11 isoform 1 preproprotein
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell adhesion IMP
IMP: 通过突变表型推断
33811546 GOA
involved in focal adhesion assembly IMP
IMP: 通过突变表型推断
33811546 GOA
involved in negative regulation of cell migration IMP
IMP: 通过突变表型推断
33811546 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

CDH11 蛋白结构

Cadherin

Cadherin: Cadherin domain (64 - 150)

Cadherin

Cadherin: Cadherin domain (164 - 258)

Cadherin

Cadherin: Cadherin domain (273 - 374)

Cadherin

Cadherin: Cadherin domain (391 - 478)

Cadherin_C

Cadherin_C: Cadherin cytoplasmic region (641 - 788)

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

cadherin-11

cadherin 11, type 2, OB-cadherin (osteoblast)

关联疾病

疾病名称 别名
Elsahy-Waters Syndrome

Brachioskeletogenital Syndrome

Bsg Syndrome

Branchioskeletogenital Syndrome

ESWS

Hypospadias, Hypertelorism, Upper Lid Coloboma, And Mixed-Type Hearing Loss

Branchio-Skeleto-Genital Syndrome

Teebi Hypertelorism Syndrome 2

TBHS2

Exotropia

Divergent Concomitant Strabismus

Divergent Strabismus

Divergent Squint

External Strabismus

Xt - [Exotropia]

Telangiectatic Osteogenic Sarcoma

Telangiectatic Osteosarcoma

Widow'S Peak

Widow'S Peak Syndrome

Widow'S Peak, Ptosis, And Skeletal Anomalies

Hypertelorism

Eyes Wide Apart

Eyes Widely Set

Hypertelorism Of Orbit

Ocular Hypertelorism

Orbital Separation Excessive

Ischemic Fasciitis

Atypical Decubital Fibroplasia

Dentin Dysplasia

Dentinal Dysplasia

Dd

Dysplasia, Dentin

Shell Teeth

Plantar Fascial Fibromatosis

Dupuytren'S Contracture Of Foot

Ledderhose'S Disease

Fibromatosis, Plantar

Ledderhose Disease

Unilateral Retinoblastoma
Craniofacial-Deafness-Hand Syndrome

CDHS

Craniofacial Deafness Hand Syndrome

Sommer-Young-Wee-Frye Syndrome

Features Of Flat Facial Profile, Hypertelorism, Hypoplastic Nose With Slitlike Nares, And A Sensorineural Hearing Loss

Craniofacial-Hearing Loss-Hand Syndrome

Intraocular Retinoblastoma

Pediatric Intraocular Retinoblastoma

Osteoblastoma
Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis

Osteogenic Sarcoma

Osteosarcoma

OSRC

Osteosarcoma, Somatic

Neoplasms, Bone Tissue

Bone Tissue Neoplasm

Osteoid Sarcoma

Skeletal Sarcoma

Osteosarcoma Of Bone

Bone Sarcoma

Aortic Valve Disease 1

Aortic Valve Disease

Bicuspid Aortic Valve

Aortic Valve Disorder

AOVD1

Bav

Bicuspid Aortic Valve Disease

Familial Bicuspid Aortic Valve

Aortic Valve Calcification

Aovd

Aortic Valve, Bicuspid

Aortic Valve, Calcification Of

Aortic Stenosis, Calcific

Familial Bav

Calcific Aortic Stenosis

Calcification Of Aortic Valve

Abnormality Of The Aortic Valve

Aortic Valve Disease, Type 1

Aortic Valve Disease 2

Bicommissural Aortic Valve

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

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
Bos taurus CDH11 VGNC VGNC:27092
Macaca mulatta CDH11 VGNC VGNC:70805
Rattus norvegicus CDH11 RGD RGD:619742
Canis familiaris CDH11 VGNC VGNC:39020
Mus musculus CDH11 MGD MGI:99217
Others CDH11 NCBI
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