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CELSR3 - cadherin EGF LAG seven-pass G-type receptor 3 Gene

Also Known as FMI1; EGFL1; HFMI1; MEGF2; ADGRC3; CDHF11; RESDA1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1951

About CELSR3

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:48,636,463-48,662,886 (from NCBI)

This gene has 4 transcripts (splice variants), 206 orthologues and 6 paralogues. Broad expression in brain (RPKM 3.0), testis (RPKM 2.3) and 17 other tissues.

Summary

This gene belongs to the flamingo subfamily, which is included in the Cadherin superfamily. The flamingo Cadherins consist of nonclassic-type Cadherins that do not interact with catenins. They are plasma membrane proteins containing seven epidermal growth factor-like repeats, nine Cadherin domains and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the regulation of contact-dependent neurite growth and may play a role in tumor formation. [provided by RefSeq, Jun 2013]

CELSR3 Products (1)

mRNA	Protein	Name
NM_001407.3	NP_001398.2	cadherin EGF LAG seven-pass G-type receptor 3 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17474147	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CELSR3 Protein Structure

Cadherin

EGF

Laminin_G_2

EGF

Laminin_G_2

Laminin_EGF

HRM

GPS

7tm_2

0
600
1200
1800
2400
3000
3312 a.a.

Protein Preferred Names	Protein Names
cadherin EGF LAG seven-pass G-type receptor 3	EGF-like protein 1

CELSR3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89555	CELSR3 Antibody (YA8899)	WB, IP, ELISA	human

Related Diseases

Diseases	Alias
Autosomal Dominant Wolfram Syndrome
Alzheimer Disease 15	AD15 Alzheimer'S Disease 15 Alzheimer Disease Without Neurofibrillary Tangles Alzheimer'S Disease 15, Late Onset Alzheimer'S Disease Without Neurofibrillary Tangles
Bjornstad Syndrome	BJS Pili Torti And Nerve Deafness Ptd Pili Torti-Deafness Syndrome Deafness-Pili Torti-Hypogonadism Syndrome Deafness And Pili Torti, Bjornstad Type Pili Torti-Sensorineural Hearing Loss Björnstad Syndrome Ptnd Hearing Loss-Pili Torti-Hypogonadism Syndrome Bjoernstad Syndrome
Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex	Exstrophy-Epispadias Complex Bladder Exstrophy-Epispadias-Cloacal Extrophy Complex Beec Eec Exstrophy Of The Bladder Bladder Exstrophy Bladder Exstrophy And Epispadias Complex
Chronic Tic Disorder	Chronic Motor Or Vocal Tic Disorder Tic Disorders Tic Disorder Tic Disorder Nos Tic Nos Tic Spasm Nos
Polymicrogyria, Bilateral Frontoparietal	Bilateral Frontoparietal Polymicrogyria BFPP Cerebellar Ataxia With Neuronal Migration Defect
Tic Disorder	Tics Behavioral Tic
Bladder Exstrophy	Exstrophy Of The Bladder Classic Exstrophy Of The Bladder
Gilles De La Tourette Syndrome	Tourette Syndrome Tourette Disorder GTS Ts Gilles De La Tourette'S Syndrome Motor-Verbal Tic Disorder Guinon'S Disease Psychogenic Tics Tourette'S Syndrome Chronic Motor And Vocal Tic Disorder Td Tourette'S Disease Combined Vocal And Multiple Motor Tic Disorder [De La Tourette] Combined Vocal And Multiple Motor Tic Disorder Tic De La Tourette
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
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-175232	GL64		98.80%	Unkown
HY-RS02467	CELSR3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18305	Celsr3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24783	Celsr3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CELSR3	MGD	MGI:1858236
Canis familiaris	CELSR3	VGNC	VGNC:54589
Bos taurus	CELSR3	VGNC	VGNC:27171
Macaca mulatta	CELSR3	VGNC	VGNC:71148
Rattus norvegicus	CELSR3	RGD	RGD:621787
Felis catus	CELSR3	VGNC	VGNC:82466
Others	CELSR3	NCBI