• Gene id: 2121

Gene Summary

• Gene Symbol: EVC   Gene   UCSC   Ensembl
• Aliases: DWF-1, EVC1, EVCL
• Gene name: EvC ciliary complex subunit 1
• Alternate names: ellis-van Creveld syndrome protein, Ellis van Creveld protein, Ellis van Creveld syndrome,
• Gene location: 4p16.2 (5711198: 5829042)     Exons: 30     NC_000004.12
• Gene summary(Entrez): This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]
• OMIM: 176930

SNPs

rs2302075

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.5753815C>A
NC_000004.12   g.5753815C>G
NC_000004.12   g.5753815C>T
NC_000004.11   g.5755542C>A
NC_000004.11   g.5755542C>G
NC_000004.11   g.5755542C>T
NG_008843.1   g.47619C>A
NG_008843.1   g.47619C>G
NG_008843.1   g.47619C>T
NM_153717.3   c.1346C>A
NM_  

Protein Summary

• Protein general information: P57679  
  • Name: Ellis van Creveld syndrome protein (DWF 1)
  • Length: 992  
  • Mass: 111990
  • Tissue specificity: Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung.
• Sequence:

  MARGGAACKSDARLLLGRDALRPAPALLAPAVLLGAALGLGLGLWLGCRAGRQRTRHQKDDTQNLLKNLESNAQT
  PSETGSPSRRRKREVQMSKDKEAVDECEPPSNSNITAFALKAKVIYPINQKFRPLADGSSNPSLHENLKQAVLPH
  QPVEASPSSSLGSLSQGEKDDCSSSSSVHSATSDDRFLSRTFLRVNAFPEVLACESVDVDLCIYSLHLKDLLHLD
  TALRQEKHMMFIQIFKMCLLDLLPKKKSDDELYQKILSKQEKDLEELEKGLQVKLSNTEMSGAGDSEYITLADVE
  KKEREYSEQLIDNMEAFWKQMANIQHFLVDQFKCSSSKARQLMMTLTERMIAAEGLLCDSQELQALDALERTMGR
  AHMAKVIEFLKLQVQEETRCRLAAISHGLELLAGEGKLSGRQKEELLTQQHKAFWQEAERFSREFVQRGKDLVTA
  SLAHQVEGTAKLTLAQEEEQRSFLAEAQPTADPEKFLEAFHEVLERQRLMQCDLEEEENVRATEAVVALCQELYF
  STVDTFQKFVDALFLQTLPGMTGLPPEECDYLRQEVQENAAWQLGKSNRFRRQQWKLFQELLEQDQQVWMEECAL
  SSVLQTHLREDHEGTIRGVLGRLGGLTEESTRCVLQGHDLLLRSALRRLALRGNALATLTQMRLSGKKHLLQELR
  EQRALEQGSSQCLDEHQWQLLRALEARVLEEASRLEEEAQQTRLQLQQRLLAEAQEVGQLLQQHMECAIGQALLV
  HARNAATKSRAKDRDDFKRTLMEAAVESVYVTSAGVSRLVQAYYQQIGRIMEDHEERKLQHLKTLQGERMENYKL
  RKKQELSNPSSGSRTAGGAHETSQAVHQRMLSQQKRFLAQFPVHQQMRLHAQQQQAGVMDLLEAQLETQLQEAEQ
  NFISELAALARVPLAESKLLPAKRGLLEKPLRTKRKKPLPQERGDLGVPNNEDLASGDQTSGSLSSKRLSQQESE
  AGDSGNSKKMLKRRSNL

• Structural information:
  • Interpro: IPR026582  IPR026501  
  • STRING: ENSP00000264956
• Other Databases: GeneCards:  EVC  Malacards:  EVC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060170	ciliary membrane	IBA	cellular component
GO:0098797	plasma membrane protein complex	IBA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0036064	ciliary basal body	ISS	cellular component
GO:0003416	endochondral bone growth	ISS	biological process
GO:0045880	positive regulation of smoothened signaling pathway	ISS	biological process
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007517	muscle organ development	TAS	biological process
GO:0001501	skeletal system development	TAS	biological process
GO:0060170	ciliary membrane	TAS	cellular component
GO:0036064	ciliary basal body	IEA	cellular component
GO:0003416	endochondral bone growth	IEA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0098797	plasma membrane protein complex	IEA	cellular component
GO:0060170	ciliary membrane	IEA	cellular component
GO:0045880	positive regulation of smoothened signaling pathway	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0060170	ciliary membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04340	Hedgehog signaling pathway

Diseases

Associated diseases	References
Ellis-van Creveld syndrome	KEGG:H00503
Weyers acrodental dysostosis	KEGG:H02158
Ellis-van Creveld syndrome	KEGG:H00503
Weyers acrodental dysostosis	KEGG:H02158
Ellis-Van Creveld syndrome	PMID:10700184
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