1. Gene
  2. CELSR2 - cadherin EGF LAG seven-pass G-type receptor 2 Gene

CELSR2 - cadherin EGF LAG seven-pass G-type receptor 2 Gene

中文名称:钙粘蛋白 EGF LAG 七通 G 型受体 2

种属: Homo sapiens

同用名: EGFL2; MEGF3; ADGRC2; CDHF10; Flamingo1

基因 ID: 1952 | 基因类型: protein coding

关于 CELSR2

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:109,249,539-109,275,751 (from NCBI)

This gene has 4 transcripts (splice variants), 207 orthologues and 6 paralogues. Biased expression in brain (RPKM 19.7), skin (RPKM 15.6) and 10 other tissues.

功能概要

由该基因编码的蛋白质是火烈鸟亚科的成员,是钙粘蛋白超科的一部分。火烈鸟亚家族由非经典型钙粘蛋白组成;不与连环蛋白相互作用的亚群。火烈鸟钙粘蛋白位于质膜上,在其胞外域中具有九个钙粘蛋白结构域、七个表皮生长因子样重复序列和两个层粘连蛋白 A G 型重复序列。它们还具有七个跨膜结构域,这是该亚科独有的特征。据推测,这些蛋白质是参与接触介导通讯的受体,其中钙粘蛋白结构域充当嗜同性结合区,EGF 样结构域参与细胞粘附和受体-配体相互作用。该特定成员的具体功能尚未确定。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo Cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]

CELSR2 基因产物(1)

mRNA Protein Name
NM_001408.3 NP_001399.1 cadherin EGF LAG seven-pass G-type receptor 2 precursor

CELSR2 蛋白结构

Cadherin

Cadherin: Cadherin domain (186 - 280)

Cadherin

Cadherin: Cadherin domain (295 - 385)

Cadherin

Cadherin: Cadherin domain (404 - 495)

Cadherin

Cadherin: Cadherin domain (510 - 601)

Cadherin

Cadherin: Cadherin domain (615 - 703)

Cadherin

Cadherin: Cadherin domain (717 - 805)

Cadherin

Cadherin: Cadherin domain (820 - 912)

Cadherin

Cadherin: Cadherin domain (928 - 1013)

Laminin_G_2

Laminin_G_2: Laminin G domain (1395 - 1553)

EGF

EGF: EGF-like domain (1578 - 1607)

Laminin_G_2

Laminin_G_2: Laminin G domain (1644 - 1769)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1924 - 1964)

(2047 - 2289)

GPS

GPS: GPCR proteolysis site, GPS, motif (2316 - 2363)

7tm_2

7tm_2: 7 transmembrane receptor (Secretin family) (2376 - 2605)

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  • 2923 a.a.
蛋白主名 其他名称

cadherin EGF LAG seven-pass G-type receptor 2

EGF-like protein 2

关联疾病

疾病名称 别名
Orofaciodigital Syndrome Iii

Sugarman Syndrome

OFD3

Orofaciodigital Syndrome 3

Ofds Iii

Oral Facial Digital Syndrome Type 3

Oral-Facial-Digital Syndrome Type 3

Oral-Facial-Digital Syndrome, Type Iii

Ofd Syndrome 3

Ofds 3

Oral Facial Digital Syndrome 3

Orofaciodigital Syndrome Type 3

Tracheoesophageal Fistula With Or Without Esophageal Atresia

Esophageal Atresia With Or Without Tracheoesophageal Fistula

Esophageal Atresia

Esophageal Atresia

Tracheoesophageal Fistula

Congenital Atresia Of Esophagus

Congenital Imperforate Esophagus

Imperforate Esophagus

Oesophageal Atresia

Te Fistula

Tef

Tracheoesophageal Fistula With Or Without Esophageal Atresia

Congenital Hydrocephalus

Hydrocephalus

Hydrocephalus Adverse Event

Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

Hydrocephalus In Newborn

Congenital Hydrocephaly

Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive

Hydrocephalus, X-Linked

Hydrocephalus Adverse Event

Hydrocephaly Nos

Scoliosis
Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

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 CELSR2 VGNC VGNC:39098
Rattus norvegicus CELSR2 RGD RGD:69237
Bos taurus CELSR2 VGNC VGNC:27170
Macaca mulatta CELSR2 VGNC VGNC:71149
Mus musculus CELSR2 MGD MGI:1858235
Felis catus CELSR2 VGNC VGNC:60749
Others CELSR2 NCBI