Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1952
Gene name Gene Name - the full gene name approved by the HGNC.
Cadherin EGF LAG seven-pass G-type receptor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CELSR2
Synonyms (NCBI Gene) Gene synonyms aliases
ADGRC2, CDHF10, EGFL2, Flamingo1, MEGF3
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 locate
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs561330579 C>G,T Likely-pathogenic Coding sequence variant, missense variant
rs773722162 ->AGAAGAGGAGGA Likely-pathogenic Inframe insertion, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT037380 hsa-miR-744-3p CLASH 23622248
MIRT659613 hsa-miR-10a-3p HITS-CLIP 23824327
MIRT659612 hsa-miR-627-3p HITS-CLIP 23824327
MIRT659611 hsa-miR-7111-3p HITS-CLIP 23824327
MIRT659610 hsa-miR-6780a-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001764 Process Neuron migration IEA
GO:0003341 Process Cilium movement IEA
GO:0004930 Function G protein-coupled receptor activity NAS 10907856
GO:0005509 Function Calcium ion binding IEA
GO:0005737 Component Cytoplasm ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604265 3231 ENSG00000143126
Protein
UniProt ID Q9HCU4
Protein name Cadherin EGF LAG seven-pass G-type receptor 2 (Cadherin family member 10) (Epidermal growth factor-like protein 2) (EGF-like protein 2) (Flamingo homolog 3) (Multiple epidermal growth factor-like domains protein 3) (Multiple EGF-like domains protein 3)
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 186 280 Cadherin domain Domain
PF00028 Cadherin 294 390 Cadherin domain Domain
PF00028 Cadherin 404 496 Cadherin domain Domain
PF00028 Cadherin 510 601 Cadherin domain Domain
PF00028 Cadherin 615 703 Cadherin domain Domain
PF00028 Cadherin 717 806 Cadherin domain Domain
PF00028 Cadherin 820 912 Cadherin domain Domain
PF00028 Cadherin 926 1014 Cadherin domain Domain
PF12661 hEGF 1337 1358 Human growth factor-like EGF Domain
PF02210 Laminin_G_2 1395 1554 Laminin G domain Domain
PF00008 EGF 1578 1608 EGF-like domain Domain
PF02210 Laminin_G_2 1644 1770 Laminin G domain Domain
PF00053 Laminin_EGF 1924 1970 Laminin EGF domain Domain
PF16489 GAIN 2051 2289 GPCR-Autoproteolysis INducing (GAIN) domain Domain
PF01825 GPS 2317 2362 GPCR proteolysis site, GPS, motif Motif
PF00002 7tm_2 2373 2605 7 transmembrane receptor (Secretin family) Family
Tissue specificity TISSUE SPECIFICITY: Highest expression in brain and testis.
Sequence
MRSPATGVPLPTPPPPLLLLLLLLLPPPLLGDQVGPCRSLGSRGRGSSGACAPMGWLCPS
SASNLWLYTSRCRDAGTELTGHLVPHHDGLRVWCPESEAHIPLPPAPEGCPWSCRLLGIG
GHLSPQGKLTLPEEHPCLKAPRLRCQSCKLAQAPGLRAGERSPEESLGGRRKRNVNTAPQ
FQPPSYQATVPENQPAGTPVASLRAIDPDEGEAGRLEYTMDALFDSRSNQFFSLDPVTGA
VTTAEELDRETKSTHVFRVTAQDHGMPRRSALATLTILVT
DTNDHDPVFEQQEYKESLRE
NLEVGYEVLTVRATDGDAPPNANILYRLLEGSGGSPSEVFEIDPRSGVIRTRGPVDREEV
ESYQLTVEASDQGRDPGPRSTTAAVFLSVE
DDNDNAPQFSEKRYVVQVREDVTPGAPVLR
VTASDRDKGSNAVVHYSIMSGNARGQFYLDAQTGALDVVSPLDYETTKEYTLRVRAQDGG
RPPLSNVSGLVTVQVL
DINDNAPIFVSTPFQATVLESVPLGYLVLHVQAIDADAGDNARL
EYRLAGVGHDFPFTINNGTGWISVAAELDREEVDFYSFGVEARDHGTPALTASASVSVTV
L
DVNDNNPTFTQPEYTVRLNEDAAVGTSVVTVSAVDRDAHSVITYQITSGNTRNRFSITS
QSGGGLVSLALPLDYKLERQYVLAVTASDGTRQDTAQIVVNVT
DANTHRPVFQSSHYTVN
VNEDRPAGTTVVLISATDEDTGENARITYFMEDSIPQFRIDADTGAVTTQAELDYEDQVS
YTLAITARDNGIPQKSDTTYLEILVN
DVNDNAPQFLRDSYQGSVYEDVPPFTSVLQISAT
DRDSGLNGRVFYTFQGGDDGDGDFIVESTSGIVRTLRRLDRENVAQYVLRAYAVDKGMPP
ARTPMEVTVTVL
DVNDNPPVFEQDEFDVFVEENSPIGLAVARVTATDPDEGTNAQIMYQI
VEGNIPEVFQLDIFSGELTALVDLDYEDRPEYVLVIQATSAPLVSRATVHVRLL
DRNDNP
PVLGNFEILFNNYVTNRSSSFPGGAIGRVPAHDPDISDSLTYSFERGNELSLVLLNASTG
ELKLSRALDNNRPLEAIMSVLVSDGVHSVTAQCALRVTIITDEMLTHSITLRLEDMSPER
FLSPLLGLFIQAVAATLATPPDHVVVFNVQRDTDAPGGHILNVSLSVGQPPGPGGGPPFL
PSEDLQERLYLNRSLLTAISAQRVLPFDDNICLREPCENYMRCVSVLRFDSSAPFIASSS
VLFRPIHPVGGLRCRCPPGFTGDYCETEVDLCYSRPCGPHGRCRSREGGYTCLCRDGYTG
EHCEVSARSGRCTPGVCKNGGTCVNLLVGGFKCDCPSGDFEKPYCQVTTRSFPAHSFITF
RGLRQRFHFTLALSFATKERDGLLLYNGRFNEKHDFVALEVIQEQVQLTFSAGESTTTVS
PFVPGGVSDGQWHTVQLKYYNKPLLGQTGLPQGPSEQKVAVVTVDGCDTGVALRFGSVLG
NYSCAAQGTQGGSKKSLDLTGPLLLGGVPDLPESFPVRMRQFVGCMRNLQVDSR
HIDMAD
FIANNGTVPGCPAKKNVCDSNTCHNGGTCVNQWDAFSCECPLGFGGKSCAQEMANPQHFL
GSSLVAWHGLSLPISQPWYLSLMFRTRQADGVLLQAITRGRSTITLQLREGHVMLSVEGT
GLQASSLRLEPGRANDGDWHHAQLALGASGGPGHAILSFDYGQQRAEGNLGPRLHGLHLS
NITVGGIPGPAGGVARGFRGCLQGVRVSDT
PEGVNSLDPSHGESINVEQGCSLPDPCDSN
PCPANSYCSNDWDSYSCSCDPGYYGDNCTNVCDLNPCEHQSVCTRKPSAPHGYTCECPPN
YLGPYCETRIDQPCPRGWWGHPTCGPCNCDVSKGFDPDCNKTSGECHCKENHYRPPGSPT
CLLCDCYPTGSLSRVCDPEDGQCPCKPGVIGRQCDRCDNPFAEVTTNGCEVNYDSCPRAI
EAGIWWPRTRFGLPAAAPCPKGSFGTAVRHCDEHRGWLPPNLFNCTSITFSELKGFAERL
QRNESGLDSGRSQQLALLLRNATQHTAGYFGSDVKVAYQLATRLLAHESTQRGFGLSATQ
DVHFTENLLRVGSALLDTANKRHWELIQQTEGGTAWLLQHYEAYASALAQNMRHTYLSPF
TIVTPNIVISVVRLDKGNFAGAKLPRYEALRGEQPPDLETTVILPESVFRETPPVVRPAG
PGEAQEPEELARRQRRHPELSQGEAVASVIIYRTLAGLLPHNYDPDKRSLRVPKRPIINT
PVVSISVHD
DEELLPRALDKPVTVQFRLLETEERTKPICVFWNHSILVSGTGGWSARGCE
VVFRNESHVSCQCNHMTSFAVL
MDVSRRENGEILPLKTLTYVALGVTLAALLLTFFFLTL
LRILRSNQHGIRRNLTAALGLAQLVFLLGINQADLPFACTVIAILLHFLYLCTFSWALLE
ALHLYRALTEVRDVNTGPMRFYYMLGWGVPAFITGLAVGLDPEGYGNPDFCWLSIYDTLI
WSFAGPVAFAVSMSVFLYILAARASCAAQRQGFEKKGPVSGLQPSFAVLLLLSATWLLAL
LSVNSDTLLFHYLFATCNCIQGPFI
FLSYVVLSKEVRKALKLACSRKPSPDPALTTKSTL
TSSYNCPSPYADGRLYQPYGDSAGSLHSTSRSGKSQPSYIPFLLREESALNPGQGPPGLG
DPGSLFLEGQDQQHDPDTDSDSDLSLEDDQSGSYASTHSSDSEEEEEEEEEEAAFPGEQG
WDSLLGPGAERLPLHSTPKDGGPGPGKAPWPGDFGTTAKESSGNGAPEERLRENGDALSR
EGSLGPLPGSSAQPHKGILKKKCLPTISEKSSLLRLPLEQCTGSSRGSSASEGSRGGPPP
RPPPRQSLQEQLNGVMPIAMSIKAGTVDEDSSGSEFLFFNFLH
Sequence length 2923
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557
View all (6 more)
27790247
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 28714975, 29212778, 26343387, 30104761
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Diabetes Diabetes rs80356611 27790247
Unknown
Disease term Disease name Evidence References Source
Coronary heart disease Coronary heart disease 22319020, 28753643, 21347282, 27790247 ClinVar
Coronary syndrome Acute Coronary Syndrome 28753643 ClinVar
Heart failure Heart failure 27790247 ClinVar
Myocardial infarction Myocardial Infarction 26343387 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 25969834, 38252350
Agenesis of Cerebellar Vermis Associate 28052552
Angina Pectoris Associate 33152005
Asthma Associate 33152005
Calcinosis Associate 24725463
Carcinoma Hepatocellular Associate 32293343
Cardiovascular Diseases Associate 24725463
Carotid Artery Diseases Associate 19951432
Cerebral Infarction Associate 26464717
Ciliopathies Associate 27894351