• Gene id: 132884

Gene Summary

• Gene Symbol: EVC2   Gene   UCSC   Ensembl
• Aliases: LBN, WAD
• Gene name: EvC ciliary complex subunit 2
• Alternate names: limbin, Ellis van Creveld syndrome 2, ellis-van Creveld syndrome protein 2,
• Gene location: 4p16.2 (5709547: 5562407)     Exons: 26     NC_000004.12
• Gene summary(Entrez): This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dy
• OMIM: 616983

Protein Summary

• Protein general information: Q86UK5  
  • Name: Limbin (Ellis van Creveld syndrome protein 2) (EVC2)
  • Length: 1308  
  • Mass: 147948
  • Tissue specificity: Found in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO
• Sequence:

  MDPSGSRGRPTWVLAGGLLAVALALGGRGCLGASSRPRWRPLGAQPPRDPQVAPRSGPGLRIPPGRSGAGPESST
  QDLPCMIWPKVECCHFKTAVEAPLGMKLDKKMEVFIPLSTSAASSGPWAHSLFAFIPSWPKKNLFKRESPITHRL
  YGDISREVQGTSENGVIFQKCALVSGSSEAQTARIWLLVNNTKTTSSANLSELLLLDSIAGLTIWDSVGNRTSEG
  FQAFSKKFLQVGDAFAVSYAATLQAGDLGNGESLKLPAQLTFQSSSRNRTQLKVLFSITAEENVTVLPHHGLHAA
  GFFIAFLLSLVLTWAALFLMVRYQCLKGNMLTRHRVWQYESKLEPLPFTSADGVNEDLSLNDQMIDILSSEDPGS
  MLQALEELEIATLNRADADLEACRTQISKDIIALLLKNLTSSGHLSPQVERKMSAVFKKQFLLLENEIQEEYDRK
  MVALTAECDLETRKKMENQYQREMMAMEEAEELLKRAGERSAVECSNLLRTLHGLEQEHLRKSLALQQEEDFAKA
  HRQLAVFQRNELHSIFFTQIKSAIFKGELKPEAAKMLLQNYSKIQENVEELMDFFQASKRYHLSKRFGHREYLVQ
  NLQSSETRVQGLLSTAAAQLTHLIQKHERAGYLDEDQMEMLLERAQTEVFSIKQKLDNDLKQEKKKLHQKLITKR
  RRELLQKHREQRREQASVGEAFRTVEDAGQYLHQKRSLMEEHGATLEELQERLDQAALDDLRTLTLSLFEKATDE
  LRRLQNSAMTQELLKRGVPWLFLQQILEEHGKEMAARAEQLEGEERDRDQEGVQSVRQRLKDDAPEAVTEEQAEL
  RRWEHLIFMKLCSSVFSLSEEELLRMRQEVHGCFAQMDRSLALPKIRARVLLQQFQTAWREAEFVKLDQAVAAPE
  LQQQSKVRKSRSKSKSKGELLKKCIEDKIHLCEEQASEDLVEKVRGELLRERVQRMEAQEGGFAQSLVALQFQKA
  SRVTETLSAYTALLSIQDLLLEELSASEMLTKSACTQILESHSRELQELERKLEDQLVQQEAAQQQQALASWQQW
  VADGPGILNEPGEVDSERQVSTVLHQALSKSQTLLEQHQQCLREEQQNSVVLEDLLENMEADTFATLCSQELRLA
  SYLARMAMVPGATLRRLLSVVLPTASQPQLLALLDSATERHVDHAAESDGGAEQADVGRRRKHQSWWQALDGKLR
  GDLISRGLEKMLWARKRKQSILKKTCLPLRERMIFSGKGSWPHLSLEPIGELAPVPIVGAETIDLLNTGEKLFIF
  RNPKEPEISLHVPPRKKKNFLNAKKAMRALGMD

• Structural information:
  • Interpro: IPR022076  IPR026501  
  • STRING: ENSP00000342144
• Other Databases: GeneCards:  EVC2  Malacards:  EVC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098797	plasma membrane protein complex	IBA	cellular component
GO:0060170	ciliary membrane	IBA	cellular component
GO:0007224	smoothened signaling pathway	ISS	biological process
GO:0005929	cilium	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0060170	ciliary membrane	TAS	cellular component
GO:0098797	plasma membrane protein complex	IEA	cellular component
GO:0060170	ciliary membrane	IEA	cellular component
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0060170	ciliary membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04340	Hedgehog signaling pathway

Diseases

Associated diseases	References
Acrofacial dysostosis	KEGG:H01376
Ellis-van Creveld syndrome	KEGG:H00503
Weyers acrodental dysostosis	KEGG:H02158
Acrofacial dysostosis	KEGG:H01376
Ellis-van Creveld syndrome	KEGG:H00503
Weyers acrodental dysostosis	KEGG:H02158
Ellis-Van Creveld syndrome	PMID:12571802
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq