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

Also Known as EGFL2; MEGF3; ADGRC2; CDHF10; Flamingo1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1952

About 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.

Summary

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 Products (1)

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

CELSR2 Protein Structure

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.
Protein Preferred Names Protein Names

cadherin EGF LAG seven-pass G-type receptor 2

  • EGF-like protein 2

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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