• Gene id: 1952

Gene Summary

• Gene Symbol: CELSR2   Gene   UCSC   Ensembl
• Aliases: ADGRC2, CDHF10, EGFL2, Flamingo1, MEGF3
• Gene name: cadherin EGF LAG seven-pass G-type receptor 2
• Alternate names: cadherin EGF LAG seven-pass G-type receptor 2, EGF-like protein 2, EGF-like-domain, multiple 2, adhesion G protein-coupled receptor C2, cadherin family member 10, cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila), epidermal growth fa,
• Gene location: 1p13.3 (109249538: 109275750)     Exons: 34     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 604265

Protein Summary

• Protein general information: Q9HCU4  
  • 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)
  • Length: 2923  
  • Mass: 317453
  • Tissue specificity: Highest expression in brain and testis.
• Sequence:

  MRSPATGVPLPTPPPPLLLLLLLLLPPPLLGDQVGPCRSLGSRGRGSSGACAPMGWLCPSSASNLWLYTSRCRDA
  GTELTGHLVPHHDGLRVWCPESEAHIPLPPAPEGCPWSCRLLGIGGHLSPQGKLTLPEEHPCLKAPRLRCQSCKL
  AQAPGLRAGERSPEESLGGRRKRNVNTAPQFQPPSYQATVPENQPAGTPVASLRAIDPDEGEAGRLEYTMDALFD
  SRSNQFFSLDPVTGAVTTAEELDRETKSTHVFRVTAQDHGMPRRSALATLTILVTDTNDHDPVFEQQEYKESLRE
  NLEVGYEVLTVRATDGDAPPNANILYRLLEGSGGSPSEVFEIDPRSGVIRTRGPVDREEVESYQLTVEASDQGRD
  PGPRSTTAAVFLSVEDDNDNAPQFSEKRYVVQVREDVTPGAPVLRVTASDRDKGSNAVVHYSIMSGNARGQFYLD
  AQTGALDVVSPLDYETTKEYTLRVRAQDGGRPPLSNVSGLVTVQVLDINDNAPIFVSTPFQATVLESVPLGYLVL
  HVQAIDADAGDNARLEYRLAGVGHDFPFTINNGTGWISVAAELDREEVDFYSFGVEARDHGTPALTASASVSVTV
  LDVNDNNPTFTQPEYTVRLNEDAAVGTSVVTVSAVDRDAHSVITYQITSGNTRNRFSITSQSGGGLVSLALPLDY
  KLERQYVLAVTASDGTRQDTAQIVVNVTDANTHRPVFQSSHYTVNVNEDRPAGTTVVLISATDEDTGENARITYF
  MEDSIPQFRIDADTGAVTTQAELDYEDQVSYTLAITARDNGIPQKSDTTYLEILVNDVNDNAPQFLRDSYQGSVY
  EDVPPFTSVLQISATDRDSGLNGRVFYTFQGGDDGDGDFIVESTSGIVRTLRRLDRENVAQYVLRAYAVDKGMPP
  ARTPMEVTVTVLDVNDNPPVFEQDEFDVFVEENSPIGLAVARVTATDPDEGTNAQIMYQIVEGNIPEVFQLDIFS
  GELTALVDLDYEDRPEYVLVIQATSAPLVSRATVHVRLLDRNDNPPVLGNFEILFNNYVTNRSSSFPGGAIGRVP
  AHDPDISDSLTYSFERGNELSLVLLNASTGELKLSRALDNNRPLEAIMSVLVSDGVHSVTAQCALRVTIITDEML
  THSITLRLEDMSPERFLSPLLGLFIQAVAATLATPPDHVVVFNVQRDTDAPGGHILNVSLSVGQPPGPGGGPPFL
  PSEDLQERLYLNRSLLTAISAQRVLPFDDNICLREPCENYMRCVSVLRFDSSAPFIASSSVLFRPIHPVGGLRCR
  CPPGFTGDYCETEVDLCYSRPCGPHGRCRSREGGYTCLCRDGYTGEHCEVSARSGRCTPGVCKNGGTCVNLLVGG
  FKCDCPSGDFEKPYCQVTTRSFPAHSFITFRGLRQRFHFTLALSFATKERDGLLLYNGRFNEKHDFVALEVIQEQ
  VQLTFSAGESTTTVSPFVPGGVSDGQWHTVQLKYYNKPLLGQTGLPQGPSEQKVAVVTVDGCDTGVALRFGSVLG
  NYSCAAQGTQGGSKKSLDLTGPLLLGGVPDLPESFPVRMRQFVGCMRNLQVDSRHIDMADFIANNGTVPGCPAKK
  NVCDSNTCHNGGTCVNQWDAFSCECPLGFGGKSCAQEMANPQHFLGSSLVAWHGLSLPISQPWYLSLMFRTRQAD
  GVLLQAITRGRSTITLQLREGHVMLSVEGTGLQASSLRLEPGRANDGDWHHAQLALGASGGPGHAILSFDYGQQR
  AEGNLGPRLHGLHLSNITVGGIPGPAGGVARGFRGCLQGVRVSDTPEGVNSLDPSHGESINVEQGCSLPDPCDSN
  PCPANSYCSNDWDSYSCSCDPGYYGDNCTNVCDLNPCEHQSVCTRKPSAPHGYTCECPPNYLGPYCETRIDQPCP
  RGWWGHPTCGPCNCDVSKGFDPDCNKTSGECHCKENHYRPPGSPTCLLCDCYPTGSLSRVCDPEDGQCPCKPGVI
  GRQCDRCDNPFAEVTTNGCEVNYDSCPRAIEAGIWWPRTRFGLPAAAPCPKGSFGTAVRHCDEHRGWLPPNLFNC
  TSITFSELKGFAERLQRNESGLDSGRSQQLALLLRNATQHTAGYFGSDVKVAYQLATRLLAHESTQRGFGLSATQ
  DVHFTENLLRVGSALLDTANKRHWELIQQTEGGTAWLLQHYEAYASALAQNMRHTYLSPFTIVTPNIVISVVRLD
  KGNFAGAKLPRYEALRGEQPPDLETTVILPESVFRETPPVVRPAGPGEAQEPEELARRQRRHPELSQGEAVASVI
  IYRTLAGLLPHNYDPDKRSLRVPKRPIINTPVVSISVHDDEELLPRALDKPVTVQFRLLETEERTKPICVFWNHS
  ILVSGTGGWSARGCEVVFRNESHVSCQCNHMTSFAVLMDVSRRENGEILPLKTLTYVALGVTLAALLLTFFFLTL
  LRILRSNQHGIRRNLTAALGLAQLVFLLGINQADLPFACTVIAILLHFLYLCTFSWALLEALHLYRALTEVRDVN
  TGPMRFYYMLGWGVPAFITGLAVGLDPEGYGNPDFCWLSIYDTLIWSFAGPVAFAVSMSVFLYILAARASCAAQR
  QGFEKKGPVSGLQPSFAVLLLLSATWLLALLSVNSDTLLFHYLFATCNCIQGPFIFLSYVVLSKEVRKALKLACS
  RKPSPDPALTTKSTLTSSYNCPSPYADGRLYQPYGDSAGSLHSTSRSGKSQPSYIPFLLREESALNPGQGPPGLG
  DPGSLFLEGQDQQHDPDTDSDSDLSLEDDQSGSYASTHSSDSEEEEEEEEEEAAFPGEQGWDSLLGPGAERLPLH
  STPKDGGPGPGKAPWPGDFGTTAKESSGNGAPEERLRENGDALSREGSLGPLPGSSAQPHKGILKKKCLPTISEK
  SSLLRLPLEQCTGSSRGSSASEGSRGGPPPRPPPRQSLQEQLNGVMPIAMSIKAGTVDEDSSGSEFLFFNFLH

• Structural information:
  • Protein Domains: (182..28-)
    (/note="Cadherin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (290..39-)
    (/note="Cadherin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (400..50-)
    (/note="Cadherin-3)
    (/evidence="ECO:0000255|PROSITE-ProRule-)
  • Interpro: IPR002126  IPR015919  IPR020894  IPR013320  IPR001881   IPR013032  IPR000742  IPR000152  IPR032471  IPR017981  IPR036445  IPR001879  IPR000832  IPR000203  IPR009030  IPR002049  IPR001791  
  • Prosite: PS00010 PS00232 PS50268 PS00022 PS01186 PS50026 PS01248 PS50027 PS50227 PS50261 PS50221 PS50025
  • STRING: ENSP00000271332
• Other Databases: GeneCards:  CELSR2  Malacards:  CELSR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	NAS	biological process
GO:0098609	cell-cell adhesion	IBA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IEA	biological process
GO:0007166	cell surface receptor signaling pathway	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0033326	cerebrospinal fluid secretion	IEA	biological process
GO:0032880	regulation of protein localization	IEA	biological process
GO:0021999	neural plate anterior/posterior regionalization	IEA	biological process
GO:0021591	ventricular system development	IEA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003341	cilium movement	IEA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0001764	neuron migration	IEA	biological process
GO:0016055	Wnt signaling pathway	ISS	biological process
GO:0022407	regulation of cell-cell adhesion	ISS	biological process
GO:0048813	dendrite morphogenesis	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005886	plasma membrane	ISS	cellular component
GO:0006355	regulation of transcription, DNA-templated	ISS	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	ISS	biological process
GO:0021999	neural plate anterior/posterior regionalization	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	NAS	biological process
GO:0004930	G protein-coupled receptor activity	NAS	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq