Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
1951 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Cadherin EGF LAG seven-pass G-type receptor 3 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
CELSR3 |
SynonymsGene synonyms aliases
|
ADGRC3, CDHF11, EGFL1, FMI1, HFMI1, MEGF2, RESDA1 |
ChromosomeChromosome number
|
3 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
3p21.31 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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 |
miRNAmiRNA information provided by mirtarbase database.
|
|
Transcription factors
|
Transcription factor |
Regulation |
Reference |
CTCF |
Unknown |
25113559 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0004930 |
Function |
G protein-coupled receptor activity |
IEA |
|
GO:0005509 |
Function |
Calcium ion binding |
IEA |
|
GO:0005515 |
Function |
Protein binding |
IPI |
17474147 |
GO:0005886 |
Component |
Plasma membrane |
IEA |
|
GO:0007156 |
Process |
Homophilic cell adhesion via plasma membrane adhesion molecules |
IEA |
|
GO:0007186 |
Process |
G protein-coupled receptor signaling pathway |
IEA |
|
GO:0007275 |
Process |
Multicellular organism development |
IEA |
|
GO:0016021 |
Component |
Integral component of membrane |
IEA |
|
GO:0060071 |
Process |
Wnt signaling pathway, planar cell polarity pathway |
NAS |
24431302 |
GO:0098609 |
Process |
Cell-cell adhesion |
IBA |
21873635 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
Q9NYQ7 |
Protein name |
Cadherin EGF LAG seven-pass G-type receptor 3 (Cadherin family member 11) (Epidermal growth factor-like protein 1) (EGF-like protein 1) (Flamingo homolog 1) (hFmi1) (Multiple epidermal growth factor-like domains protein 2) (Multiple EGF-like domains prote |
Protein function |
Receptor that may have an important role in cell/cell signaling during nervous system formation. |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00028 |
Cadherin |
330 → 424 |
Cadherin domain |
Domain |
PF00028 |
Cadherin |
438 → 536 |
Cadherin domain |
Domain |
PF00028 |
Cadherin |
550 → 642 |
Cadherin domain |
Domain |
PF00028 |
Cadherin |
656 → 747 |
Cadherin domain |
Domain |
PF00028 |
Cadherin |
761 → 849 |
Cadherin domain |
Domain |
PF00028 |
Cadherin |
863 → 952 |
Cadherin domain |
Domain |
PF00028 |
Cadherin |
966 → 1058 |
Cadherin domain |
Domain |
PF00028 |
Cadherin |
1072 → 1160 |
Cadherin domain |
Domain |
PF00008 |
EGF |
1439 → 1469 |
EGF-like domain |
Domain |
PF02210 |
Laminin_G_2 |
1543 → 1702 |
Laminin G domain |
Domain |
PF00008 |
EGF |
1726 → 1756 |
EGF-like domain |
Domain |
PF02210 |
Laminin_G_2 |
1793 → 1924 |
Laminin G domain |
Domain |
PF00053 |
Laminin_EGF |
2077 → 2122 |
Laminin EGF domain |
Domain |
PF16489 |
GAIN |
2204 → 2450 |
GPCR-Autoproteolysis INducing (GAIN) domain |
Domain |
PF00002 |
7tm_2 |
2536 → 2767 |
7 transmembrane receptor (Secretin family) |
Family |
|
Sequence |
|
Sequence length |
3312 |
Interactions |
View interactions |
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Hirschsprung disease |
Hirschsprung Disease |
rs104893891, rs76262710, rs75075748, rs75996173, rs79014735, rs77316810, rs75076352, rs76087194, rs76534745, rs76764689, rs76449634, rs78098482, rs79661516, rs104894389, rs769735757, rs267606780, rs1568823467, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869 |
27619161 |
Inflammatory bowel disease |
Inflammatory Bowel Diseases |
rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468 |
26192919 |
|
|