Gene Gene information from NCBI Gene database.
Entrez ID 1951
Gene name Cadherin EGF LAG seven-pass G-type receptor 3
Gene symbol CELSR3
Synonyms (NCBI Gene)
ADGRC3CDHF11EGFL1FMI1HFMI1MEGF2RESDA1
Chromosome 3
Chromosome location 3p21.31
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
miRNA miRNA information provided by mirtarbase database.
629
miRTarBase ID miRNA Experiments Reference
MIRT017431 hsa-miR-335-5p Microarray 18185580
MIRT048022 hsa-miR-30c-5p CLASH 23622248
MIRT669072 hsa-miR-532-3p HITS-CLIP 23824327
MIRT307707 hsa-miR-6782-3p HITS-CLIP 23824327
MIRT669071 hsa-miR-2114-5p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
CTCF Unknown 25113559
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0004930 Function G protein-coupled receptor activity TAS 15203201
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 17474147
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604264 3230 ENSG00000008300
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
MMARRPPWRGLGGRSTPILLLLLLSLFPLSQEELGGGGHQGWDPGLAATTGPRAHIGGGA
LALCPESSGVREDGGPGLGVREPIFVGLRGRRQSARNSRGPPEQPNEELGIEHGVQPLGS
RERETGQGPGSVLYWRPEVSSCGRTGPLQRGSLSPGALSSGVPGSGNSSPLPSDFLIRHH
GPKPVSSQRNAGTGSRKRVGTARCCGELWATGSKGQGERATTSGAERTAPRRNCLPGASG
SGPELDSAPRTARTAPASGSAPRESRTAPEPAPKRMRSRGLFRCRFLPQRPGPRPPGLPA
RPEARKVTSANRARFRRAANRHPQFPQYNYQTLVPENEAAGTAVLRVVAQDPDAGEAGRL
VYSLAALMNSRSLELFSIDPQSGLIRTAAALDRESMERHYLRVTAQDHGSPRLSATTMVA
VTVA
DRNDHSPVFEQAQYRETLRENVEEGYPILQLRATDGDAPPNANLRYRFVGPPAARA
AAAAAFEIDPRSGLISTSGRVDREHMESYELVVEASDQGQEPGPRSATVRVHITVL
DEND
NAPQFSEKRYVAQVREDVRPHTVVLRVTATDRDKDANGLVHYNIISGNSRGHFAIDSLTG
EIQVVAPLDFEAEREYALRIRAQDAGRPPLSNNTGLASIQVV
DINDHIPIFVSTPFQVSV
LENAPLGHSVIHIQAVDADHGENARLEYSLTGVAPDTPFVINSATGWVSVSGPLDRESVE
HYFFGVEARDHGSPPLSASASVTVTVL
DVNDNRPEFTMKEYHLRLNEDAAVGTSVVSVTA
VDRDANSAISYQITGGNTRNRFAISTQGGVGLVTLALPLDYKQERYFKLVLTASDRALHD
HCYVHINIT
DANTHRPVFQSAHYSVSVNEDRPMGSTIVVISASDDDVGENARITYLLEDN
LPQFRIDADSGAITLQAPLDYEDQVTYTLAITARDNGIPQKADTTYVEVMVN
DVNDNAPQ
FVASHYTGLVSEDAPPFTSVLQISATDRDAHANGRVQYTFQNGEDGDGDFTIEPTSGIVR
TVRRLDREAVSVYELTAYAVDRGVPPLRTPVSIQVMVQ
DVNDNAPVFPAEEFEVRVKENS
IVGSVVAQITAVDPDEGPNAHIMYQIVEGNIPELFQMDIFSGELTALIDLDYEARQEYVI
VVQATSAPLVSRATVHVRLV
DQNDNSPVLNNFQILFNNYVSNRSDTFPSGIIGRIPAYDP
DVSDHLFYSFERGNELQLLVVNQTSGELRLSRKLDNNRPLVASMLVTVTDGLHSVTAQCV
LRVVIITEELLANSLTVRLENMWQERFLSPLLGRFLEGVAAVLATPAEDVFIFNIQNDTD
VGGTVLNVSFSALAPRGAGAGAAGPWFSSEELQEQLYVRRAALAARSLLDVLPFDDNVCL
REPCENYMKCVSVLRFDSSAPFLASASTLFRPIQPIAGLRCRCPPGFTGDFCETELDLCY
SNPCRNGGACARREGGYTCVCRPRFTGED
CELDTEAGRCVPGVCRNGGTCTDAPNGGFRC
QCPAGGAFEGPRCEVAARSFPPSSFVMFRGLRQRFHLTLSLSFATVQQSGLLFYNGRLNE
KHDFLALELVAGQVRLTYSTGESNTVVSPTVPGGLSDGQWHTVHLRYYNKPRTDALGGAQ
GPSKDKVAVLSVDDCDVAVALQFGAEIGNYSCAAAGVQTSSKKSLDLTGPLLLGGVPNLP
ENFPVSHKDFIGCMRDLHIDGR
RVDMAAFVANNGTMAGCQAKLHFCDSGPCKNSGFCSER
WGSFSCDCPVGFGGKD
CQLTMAHPHHFRGNGTLSWNFGSDMAVSVPWYLGLAFRTRATQG
VLMQVQAGPHSTLLCQLDRGLLSVTVTRGSGRASHLLLDQVTVSDGRWHDLRLELQEEPG
GRRGHHVLMVSLDFSLFQDTMAVGSELQGLKVKQLHVGGLPPGSAEEAPQGLVGCIQGVW
LGST
PSGSPALLPPSHRVNAEPGCVVTNACASGPCPPHADCRDLWQTFSCTCQPGYYGPG
CVDACLLNPCQNQGSCRHLPGAPHGYTCDCVGGYFGHHCEHRMDQQCPRGWWGSPTCGPC
NCDVHKGFDPNCNKTNGQCHCKEFHYRPRGSDSCLPCDCYPVGSTSRSCAPHSGQCPCRP
GALGRQCNSCDSPFAEVTASGC
RVLYDACPKSLRSGVWWPQTKFGVLATVPCPRGALGAA
VRLCDEAQGWLEPDLFNCTSPAFRELSLLLDGLELNKTALDTMEAKKLAQRLREVTGHTD
HYFSQDVRVTARLLAHLLAFESHQQGFGLTATQDAHFNENLLWAGSALLAPETGDLWAAL
GQRAPGGSPGSAGLVRHLEEYAATLARNMELTYLNPMGLVTPNIMLSIDRMEHPSSPRGA
RRYPRYHSNLFRGQDAWDPHTHVLLPSQSPRPSPSEVLPTSSSIENSTTSSVVPPPAPPE
PEPGISIIILLVYRTLGGLLPAQFQAERRGARLPQNPVMNSPVVSVAVFH
GRNFLRGILE
SPISLEFRLLQTANRSKAICVQWDPPGLAEQHGVWTARDCELVHRNGSHARCRCSRTGTF
GVLMDASPRERLEGDLELLAVFTHVVVAVSVAALVLTAAILLSLRSLKSNVRGIHANVAA
ALGVAELLFLLGIHRTHNQLVCTAVAILLHYFFLSTFAWLFVQGLHLYRMQVEPRNVDRG
AMRFYHALGWGVPAVLLGLAVGLDPEGYGNPDFCWISVHEPLIWSFAGPVVLVIVMNGTM
FLLAARTSCSTGQREAKKTSALTLRSSFLLLLLVSASWLFGLLAVNHSILAFHYLHAGLC
GLQGLAV
LLLFCVLNADARAAWMPACLGRKAAPEEARPAPGLGPGAYNNTALFEESGLIR
ITLGASTVSSVSSARSGRTQDQDSQRGRSYLRDNVLVRHGSAADHTDHSLQAHAGPTDLD
VAMFHRDAGADSDSDSDLSLEEERSLSIPSSESEDNGRTRGRFQRPLCRAAQSERLLTHP
KDVDGNDLLSYWPALGECEAAPCALQTWGSERRLGLDTSKDAANNNQPDPALTSGDETSL
GRAQRQRKGILKNRLQYPLVPQTRGAPELSWCRAATLGHRAVPAASYGRIYAGGGTGSLS
QPASRYSSREQLDLLLRRQLSRERLEEAPAPVLRPLSRPGSQECMDAAPGRLEPKDRGST
LPRRQPPRDYPGAMAGRFGSRDALDLGAPREWLSTLPPPRRTRDLDPQPPPLPLSPQRQL
SRDPLLPSRPLDSLSRSSNSREQLDQVPSRHPSREALGPLPQLLRAREDSVSGPSHGPST
EQLDILSSILASFNSSALSSVQSSSTPLGPHTTATPSATASVLGPSTPRSATSHSISELS
PDSEVPRSEGHS
Sequence length 3312
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
67
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital anomalies of kidney and urinary tract 1 Likely pathogenic rs560173014, rs201106333 RCV003457219
RCV003457220
See cases Likely pathogenic rs769126116, rs926413112, rs1478414043, rs765000723, rs767046464, rs778590372, rs369860222, rs1221285290, rs1021990044, rs756551154, rs2531574631 RCV003458263
RCV003458264
RCV003458265
RCV003458267
RCV003458268
RCV003458269
RCV003458270
RCV003458272
RCV003458273
RCV003458274
RCV003458276
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Likely benign rs2531611184 RCV003127283
Bladder exstrophy-epispadias-cloacal extrophy complex Benign; Conflicting classifications of pathogenicity rs144164666, rs139837673, rs201004738 RCV004556103
RCV004556106
RCV004556071
CELSR3-related disorder Uncertain significance; Benign; Likely benign rs2047180596, rs2531621538, rs140688880, rs146659525, rs193020039, rs369652176, rs1413749576, rs147947825, rs763316177, rs769423919, rs76423828, rs200877975, rs138985126, rs534018514, rs144164666
View all (18 more)
RCV003412425
RCV003391476
RCV003966402
RCV003981499
RCV003902220
RCV003981438
RCV003899870
RCV003911802
RCV003967326
RCV003897379
RCV003914112
RCV003947365
RCV003919417
RCV003941449
RCV003941584
RCV003939673
RCV003934364
RCV003959167
RCV003956952
RCV003969287
RCV003907380
RCV003949167
RCV003949221
RCV003956813
RCV003954607
RCV003979000
RCV003979057
RCV003976917
RCV003964765
RCV003961989
RCV003966765
RCV003972151
RCV003925916
Clear cell carcinoma of kidney Benign rs114401810 RCV005903311
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 34872584
Adenocarcinoma of Lung Associate 33811453
Brain Diseases Associate 24358150
Carcinogenesis Associate 26838213, 30696738, 33811453
Colorectal Neoplasms Associate 30231850
Epilepsy Associate 34951123
Leukemia Myeloid Acute Associate 27258612
Neoplasm Metastasis Associate 33811453
Neoplasms Associate 20416094, 33811453, 34872584, 37546702, 38507078
Prostatic Neoplasms Associate 37546702