Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9620
Gene name Gene Name - the full gene name approved by the HGNC.
Cadherin EGF LAG seven-pass G-type receptor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CELSR1
Synonyms (NCBI Gene) Gene synonyms aliases
ADGRC1, CDHF9, FMI2, HFMI2, LMPHM9, ME2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LMPHM9
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.31
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
rs786201015 ->CA Risk-factor Frameshift variant, coding sequence variant
rs786201016 CA>- Risk-factor Frameshift variant, coding sequence variant
rs1569124017 C>T Pathogenic Genic downstream transcript variant, splice donor variant
rs1569133268 C>G Likely-pathogenic Splice acceptor variant
rs1569141899 A>T Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT049355 hsa-miR-92a-3p CLASH 23622248
MIRT040199 hsa-miR-615-3p CLASH 23622248
MIRT884224 hsa-miR-1200 CLIP-seq
MIRT884225 hsa-miR-1202 CLIP-seq
MIRT884226 hsa-miR-1227 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001736 Process Establishment of planar polarity ISS
GO:0001764 Process Neuron migration ISS
GO:0001843 Process Neural tube closure ISS
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0005509 Function Calcium ion binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604523 1850 ENSG00000075275
Protein
UniProt ID Q9NYQ6
Protein name Cadherin EGF LAG seven-pass G-type receptor 1 (Cadherin family member 9) (Flamingo homolog 2) (hFmi2)
Protein function Receptor that may have an important role in cell/cell signaling during nervous system formation.
PDB 7SZ8 , 8D40
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00028 Cadherin 250 344 Cadherin domain Domain
PF00028 Cadherin 358 450 Cadherin domain Domain
PF00028 Cadherin 464 556 Cadherin domain Domain
PF00028 Cadherin 570 678 Cadherin domain Domain
PF00028 Cadherin 692 780 Cadherin domain Domain
PF00028 Cadherin 794 883 Cadherin domain Domain
PF00028 Cadherin 897 990 Cadherin domain Domain
PF00028 Cadherin 1005 1092 Cadherin domain Domain
PF00008 EGF 1407 1439 EGF-like domain Domain
PF02210 Laminin_G_2 1470 1629 Laminin G domain Domain
PF00008 EGF 1653 1683 EGF-like domain Domain
PF02210 Laminin_G_2 1719 1849 Laminin G domain Domain
PF00053 Laminin_EGF 2003 2049 Laminin EGF domain Domain
PF02793 HRM 2052 2107 Hormone receptor domain Family
PF16489 GAIN 2130 2381 GPCR-Autoproteolysis INducing (GAIN) domain Domain
PF01825 GPS 2409 2454 GPCR proteolysis site, GPS, motif Motif
PF00002 7tm_2 2465 2697 7 transmembrane receptor (Secretin family) Family
Sequence
MAPPPPPVLPVLLLLAAAAALPAMGLRAAAWEPRVPGGTRAFALRPGCTYAVGAACTPRA
PRELLDVGRDGRLAGRRRVSGAGRPLPLQVRLVARSAPTALSRRLRARTHLPGCGARARL
CGTGARLCGALCFPVPGGCAAAQHSALAAPTTLPACRCPPRPRPRCPGRPICLPPGGSVR
LRLLCALRRAAGAVRVGLALEAATAGTPSASPSPSPPLPPNLPEARAGPARRARRGTSGR
GSLKFPMPNYQVALFENEPAGTLILQLHAHYTIEGEEERVSYYMEGLFDERSRGYFRIDS
ATGAVSTDSVLDRETKETHVLRVKAVDYSTPPRSATTYITVLVK
DTNDHSPVFEQSEYRE
RVRENLEVGYEVLTIRASDRDSPINANLRYRVLGGAWDVFQLNESSGVVSTRAVLDREEA
AEYQLLVEANDQGRNPGPLSATATVYIEVE
DENDNYPQFSEQNYVVQVPEDVGLNTAVLR
VQATDRDQGQNAAIHYSILSGNVAGQFYLHSLSGILDVINPLDFEDVQKYSLSIKAQDGG
RPPLINSSGVVSVQVL
DVNDNEPIFVSSPFQATVLENVPLGYPVVHIQAVDADSGENARL
HYRLVDTASTFLGGGSAGPKNPAPTPDFPFQIHNSSGWITVCAELDREEVEHYSFGVEAV
DHGSPPMSSSTSVSITVL
DVNDNDPVFTQPTYELRLNEDAAVGSSVLTLQARDRDANSVI
TYQLTGGNTRNRFALSSQRGGGLITLALPLDYKQEQQYVLAVTASDGTRSHTAHVLINVT

DANTHRPVFQSSHYTVSVSEDRPVGTSIATLSANDEDTGENARITYVIQDPVPQFRIDPD
SGTMYTMMELDYENQVAYTLTIMAQDNGIPQKSDTTTLEILIL
DANDNAPQFLWDFYQGS
IFEDAPPSTSILQVSATDRDSGPNGRLLYTFQGGDDGDGDFYIEPTSGVIRTQRRLDREN
VAVYNLWALAVDRGSPTPLSASVEIQVTIL
DINDNAPMFEKDELELFVEENNPVGSVVAK
IRANDPDEGPNAQIMYQIVEGDMRHFFQLDLLNGDLRAMVELDFEVRREYVLVVQATSAP
LVSRATVHILLV
DQNDNPPVLPDFQILFNNYVTNKSNSFPTGVIGCIPAHDPDVSDSLNY
TFVQGNELRLLLLDPATGELQLSRDLDNNRPLEALMEVSVSDGIHSVTAFCTLRVTIITD
DMLTNSITVRLENMSQEKFLSPLLALFVEGVAAVLSTTKDDVFVFNVQNDTDVSSNILNV
TFSALLPGGVRGQFFPSEDLQEQIYLNRTLLTTISTQRVLPFDDNICLREPCENYMKCVS
VLRFDSSAPFLSSTTVLFRPIHPINGLRCRCPPGFTGDYCETEIDLCYSDPCGANGRCRS
REGGYTCECFEDFTGEHCEVDARSGRCANGVCKNGGTCVNLLIGGFHCVCPPGEYERPYC
EVTTRSFPPQSFVTFRGLRQRFHFTISLTFATQERNGLLLYNGRFNEKHDFIALEIVDEQ
VQLTFSAGETTTTVAPKVPSGVSDGRWHSVQVQYYNKPNIGHLGLPHGPSGEKMAVVTVD
DCDTTMAVRFGKDIGNYSCAAQGTQTGSKKSLDLTGPLLLGGVPNLPEDFPVHNRQFVGC
MRNLSVDGK
NVDMAGFIANNGTREGCAARRNFCDGRRCQNGGTCVNRWNMYLCECPLRFG
GKN
CEQAMPHPQLFSGESVVSWSDLNIIISVPWYLGLMFRTRKEDSVLMEATSGGPTSFR
LQILNNYLQFEVSHGPSDVESVMLSGLRVTDGEWHHLLIELKNVKEDSEMKHLVTMTLDY
GMDQNKADIGGMLPGLTVRSVVVGGASEDKVSVRRGFRGCMQGVRMGGT
PTNVATLNMNN
ALKVRVKDGCDVDDPCTSSPCPPNSRCHDAWEDYSCVCDKGYLGINCVDACHLNPCENMG
ACVRSPGSPQGYVCECGPSHYGPYCENKLDLPCPRGWWGNPVCGPCHCAVSKGFDPDCNK
TNGQCQCKENYYKLLAQDTCLPCDCFPHGSHSRTCDMATGQCACKPGVIGRQCNRCDNPF
AEVTTLGCE
VIYNGCPKAFEAGIWWPQTKFGQPAAVPCPKGSVGNAVRHCSGEKGWLPPE
LFNCTTI
SFVDLRAMNEKLSRNETQVDGARALQLVRALRSATQHTGTLFGNDVRTAYQLL
GHVLQHESWQQGFDLAATQDADFHEDVIHSGSALLAPATRAAWEQIQRSEGGTAQLLRRL
EGYFSNVARNVRRTYLRPFVIVTANMILAVDIFDKFNFTGARVPRFDTIHEEFPRELESS
VSFPADFFRPPEEKEGPLLRPAGRRTTPQTTRPGPGTEREAPISRRRRHPDDAGQFAVAL
VIIYRTLGQLLPERYDPDRRSLRLPHRPIINTPMVSTLVYS
EGAPLPRPLERPVLVEFAL
LEVEERTKPVCVFWNHSLAVGGTGGWSARGCELLSRNRTHVACQCSHTASFAVLMDISRR
ENGEVLPLKIVTYAAVSLSLAALLVAFVLLSLVRMLRSNLHSIHKHLAVALFLSQLVFVI
GINQTENPFLCTVVAILLHYIYMSTFAWTLVESLHVYRMLTEVRNIDTGPMRFYYVVGWG
IPAIVTGLAVGLDPQGYGNPDFCWLSLQDTLIWSFAGPIGAVIIINTVTSVLSAKVSCQR
KHHYYGKKGIVSLLRTAFLLLLLISATWLLGLLAVNRDALSFHYLFAIFSGLQGPFV
LLF
HCVLNQEVRKHLKGVLGGRKLHLEDSATTRATLLTRSLNCNTTFGDGPDMLRTDLGESTA
SLDSIVRDEGIQKLGVSSGLVRGSHGEPDASLMPRSCKDPPGHDSDSDSELSLDEQSSSY
ASSHSSDSEDDGVGAEEKWDPARGAVHSTPKGDAVANHVPAGWPDQSLAESDSEDPSGKP
RLKVETKVSVELHREEQGSHRGEYPPDQESGGAARLASSQPPEQRKGILKNKVTYPPPLT
LTEQTLKGRLREKLADCEQSPTSSRTSSLGSGGPDCAITVKSPGREPGRDHLNGVAMNVR
TGSAQADGSDSEKP
Sequence length 3014
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
28736931
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 24185611
Unknown
Disease term Disease name Evidence References Source
Heart failure Heart failure 31113495 ClinVar
Neural Tube Defect neural tube defects, susceptibility to GenCC
Lymphatic Malformation lymphatic malformation 9 GenCC
Developmental And Epileptic Encephalopathy genetic developmental and epileptic encephalopathy GenCC
Associations from Text Mining
Disease Name Relationship Type References
Anencephaly Associate 29573971
Atherosclerosis Associate 25117632
Cakut Associate 40774958
Carcinoma Intraductal Noninfiltrating Associate 22887771
Cerebral Infarction Associate 25117632, 25855559
Colonic Neoplasms Associate 33428592
Hennekam lymphangiectasia lymphedema syndrome Associate 34128868
Lymphatic Abnormalities Associate 34128868
Lymphedema Associate 34128868, 35948757
Lymphoma Mantle Cell Associate 22150124