CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CELSR3provided by HGNC
Official Full Name: cadherin EGF LAG seven-pass G-type receptor 3provided by HGNC
Primary source: HGNC:HGNC:3230
See related: Ensembl:ENSG00000008300 MIM:604264; AllianceGenome:HGNC:3230
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FMI1; EGFL1; HFMI1; MEGF2; ADGRC3; CDHF11; RESDA1
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]
Expression: Broad expression in brain (RPKM 3.0), testis (RPKM 2.3) and 17 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 3p21.31

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (48636463..48662886, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (48665423..48691846, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (48673896..48700319, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The adhesion GPCRs CELSR1-3 and LPHN3 engage G proteins via distinct activation mechanisms.
Title: The adhesion GPCRs CELSR1-3 and LPHN3 engage G proteins via distinct activation mechanisms.
Clinical Significance and Underlying Mechanisms of CELSR3 in Metastatic Prostate Cancer Based on Immunohistochemistry, Data Mining, and In Silico Analysis.
Title: Clinical Significance and Underlying Mechanisms of CELSR3 in Metastatic Prostate Cancer Based on Immunohistochemistry, Data Mining, and In Silico Analysis.
CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures.
Title: CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures.
Evaluated expression of CELSR3 in oral squamous cell carcinoma is associated with perineural invasion and poor prognosis.
Title: Evaluated expression of CELSR3 in oral squamous cell carcinoma is associated with perineural invasion and poor prognosis.
Systematic expression analysis of the CELSR family reveals the importance of CELSR3 in human lung adenocarcinoma.
Title: Systematic expression analysis of the CELSR family reveals the importance of CELSR3 in human lung adenocarcinoma.
CELSR3 copy number variants are associated with Tourette syndrome and implicate cell polarity in pathogenesis.
Title: De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Study identifies four likely Tourette disorder risk genes with multiple de novo damaging variants in unrelated probands: WWC1 (WW and C2 domain containing 1), CELSR3 (Cadherin EGF LAG seven-pass G-type receptor 3), NIPBL (Nipped-B-like), and FN1 (fibronectin 1).
Title: De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
marked reduction in the prominence of TUJ1 bundles in number, thickness, and length. Our results showed that deregulation of the planar cell polarity genes CELSR3 and FZD3 might disrupt the enteric innervation pattern
Title: Deregulation of the planar cell polarity genes CELSR3 and FZD3 in Hirschsprung disease.
A moderate positive correlation between CELSR3 and patient age was also evident.
Title: Involvement of CELSR3 Hypermethylation in Primary Oral Squamous Cell Carcinoma.
seven-transmembrane domain receptors Celsr3 and Fzd3, in particular, control the development of most longitudinal tracts in the central nervous system. [Review]
Title: Celsr3 and Fzd3 in axon guidance.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in Wnt signaling pathway, planar cell polarity pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in dopaminergic neuron axon guidance	ISS Inferred from Sequence or Structural Similarity more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IEA Inferred from Electronic Annotation more info
involved_in serotonergic neuron axon guidance	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: cadherin EGF LAG seven-pass G-type receptor 3

Names: EGF-like protein 1; EGF-like-domain, multiple 1; adhesion G protein-coupled receptor C3; anchor protein; cadherin family member 11; cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila); epidermal growth factor-like protein 1; flamingo homolog 1; multiple EGF-like domains protein 2; multiple epidermal growth factor-like domains protein 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_034061.1 RefSeqGene

Range

5030..31453

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001407.3 → NP_001398.2 cadherin EGF LAG seven-pass G-type receptor 3 precursor

See identical proteins and their annotated locations for NP_001398.2

Status: REVIEWED

Source sequence(s)

AB011536, AC121252, AF231023, BU738328

Consensus CDS

CCDS2775.1

UniProtKB/Swiss-Prot

O75092, Q9NYQ7

Related

ENSP00000164024.4, ENST00000164024.5

Conserved Domains (9) summary

smart00303
Location:2476 → 2529

GPS; G-protein-coupled receptor proteolytic site domain

cd11304
Location:655 → 752

Cadherin_repeat; Cadherin tandem repeat domain

smart00008
Location:2126 → 2185

HormR; Domain present in hormone receptors

cd00054
Location:1982 → 2020

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00055
Location:2076 → 2114

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd00110
Location:1517 → 1700

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam00053
Location:2003 → 2042

Laminin_EGF; Laminin EGF domain

pfam16489
Location:2205 → 2448

GAIN; GPCR-Autoproteolysis INducing (GAIN) domain

cl21561
Location:2557 → 2767

7tm_4; Olfactory receptor