Human Gene EVC (ENST00000264956.11) from GENCODE V39
  Description: Homo sapiens EvC ciliary complex subunit 1 (EVC), transcript variant 1, mRNA. (from RefSeq NM_153717)
RefSeq Summary (NM_153717): 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].
Gencode Transcript: ENST00000264956.11
Gencode Gene: ENSG00000072840.13
Transcript (Including UTRs)
   Position: hg38 chr4:5,711,201-5,814,305 Size: 103,105 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg38 chr4:5,711,381-5,811,037 Size: 99,657 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2022-01-17 08:30:34

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:5,711,201-5,814,305)mRNA (may differ from genome)Protein (992 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMGImyGene2neXtProt
OMIMPubMedReactomeUniProtKB

-  Comments and Description Text from UniProtKB
  ID: EVC_HUMAN
DESCRIPTION: RecName: Full=Ellis-van Creveld syndrome protein; AltName: Full=DWF-1;
FUNCTION: Acts as a positive mediator of Hedgehog signaling indispensable for normal endochondral growth and skeletal development (By similarity).
SUBUNIT: Interacts with EVC2 (By similarity).
SUBCELLULAR LOCATION: Cell membrane; Single-pass membrane protein (By similarity). Cytoplasm, cytoskeleton, cilium basal body (By similarity). Cell projection, cilium (By similarity). Cell projection, cilium membrane (By similarity). Note=EVC2 is required for the localization of EVC at the base of primary cilia (By similarity).
TISSUE SPECIFICITY: Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung.
DISEASE: Defects in EVC are a cause of Ellis-van Creveld syndrome (EVC) [MIM:225500]; also known as chondroectodermal dysplasia. EVC is an autosomal recessive disorder characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals.
DISEASE: Defects in EVC are a cause of acrofacial dysostosis Weyers type (WAD) [MIM:193530]; also known as Curry-Hall syndrome. Acrofacial dysostoses are a heterogeneous group of disorders combining limb defects with facial abnormalities. WAD is an autosomal dominant disorder characterized by dysplastic nails, postaxial polydactyly, acrofacial dysostosis, short limbs and short stature. The phenotype is milder than Ellis-van Creveld syndrome.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EVC";

-  MalaCards Disease Associations
  MalaCards Gene Search: EVC
Diseases sorted by gene-association score: weyers acrofacial dysostosis* (1700), ellis-van creveld syndrome* (1175), evc-related ellis-van creveld syndrome* (100), dysostosis (45), acrofacial dysostosis (16), polydactyly, postaxial, types a1 and b (15), acute hemorrhagic conjunctivitis (9), atrioventricular septal defect (8), char syndrome (8), short-rib thoracic dysplasia 3 with or without polydactyly (6), ectodermal dysplasia 2, clouston type (5), cranioectodermal dysplasia 1 (4), asphyxiating thoracic dystrophy (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.65 RPKM in Ovary
Total median expression: 209.33 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -92.70180-0.515 Picture PostScript Text
3' UTR -1211.403268-0.371 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026582 - Evc
IPR026501 - Limbin/Ellis-van_Creveld

ModBase Predicted Comparative 3D Structure on P57679
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0001501 skeletal system development
GO:0003416 endochondral bone growth
GO:0007224 smoothened signaling pathway
GO:0007517 muscle organ development
GO:0045880 positive regulation of smoothened signaling pathway
GO:0051216 cartilage development

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0036064 ciliary basal body
GO:0042995 cell projection
GO:0060170 ciliary membrane
GO:0098797 plasma membrane protein complex


-  Descriptions from all associated GenBank mRNAs
  AF216185 - Homo sapiens tissue-type brain Ellis-van Creveld syndrome protein (EVC) mRNA, complete cds.
AF216184 - Homo sapiens tissue-type heart Ellis-van Creveld syndrome protein (EVC) mRNA, complete cds.
AF239742 - Homo sapiens DWF-1 mRNA, complete cds.
AK025394 - Homo sapiens cDNA: FLJ21741 fis, clone COLF4894, highly similar to AF216185 Homo sapiens tissue-type brain Ellis-van Creveld syndrome protein (EVC) mRNA.
BC085608 - Homo sapiens Ellis van Creveld syndrome, mRNA (cDNA clone MGC:105107 IMAGE:30523373), complete cds.
JD469177 - Sequence 450201 from Patent EP1572962.
JD204878 - Sequence 185902 from Patent EP1572962.
JD129674 - Sequence 110698 from Patent EP1572962.
JD408721 - Sequence 389745 from Patent EP1572962.
JD221792 - Sequence 202816 from Patent EP1572962.
JD462918 - Sequence 443942 from Patent EP1572962.
JD096074 - Sequence 77098 from Patent EP1572962.
JD398855 - Sequence 379879 from Patent EP1572962.
JD386284 - Sequence 367308 from Patent EP1572962.
JD102606 - Sequence 83630 from Patent EP1572962.
JD445943 - Sequence 426967 from Patent EP1572962.
JD554027 - Sequence 535051 from Patent EP1572962.
JD554026 - Sequence 535050 from Patent EP1572962.
JD403764 - Sequence 384788 from Patent EP1572962.
JD166822 - Sequence 147846 from Patent EP1572962.
JD554026 - Sequence 535050 from Patent EP1572962.
JD554027 - Sequence 535051 from Patent EP1572962.
JD445942 - Sequence 426966 from Patent EP1572962.
JD554028 - Sequence 535052 from Patent EP1572962.
JD554026 - Sequence 535050 from Patent EP1572962.
JD554027 - Sequence 535051 from Patent EP1572962.
JD056376 - Sequence 37400 from Patent EP1572962.
JD554026 - Sequence 535050 from Patent EP1572962.
JD554027 - Sequence 535051 from Patent EP1572962.
JD104111 - Sequence 85135 from Patent EP1572962.
JD334742 - Sequence 315766 from Patent EP1572962.
JD104112 - Sequence 85136 from Patent EP1572962.
JD129888 - Sequence 110912 from Patent EP1572962.
JD315249 - Sequence 296273 from Patent EP1572962.
JD488914 - Sequence 469938 from Patent EP1572962.
JD332837 - Sequence 313861 from Patent EP1572962.
JD251651 - Sequence 232675 from Patent EP1572962.
JD336673 - Sequence 317697 from Patent EP1572962.
JD164233 - Sequence 145257 from Patent EP1572962.
JD355298 - Sequence 336322 from Patent EP1572962.
JD473339 - Sequence 454363 from Patent EP1572962.
JD534093 - Sequence 515117 from Patent EP1572962.
JD352703 - Sequence 333727 from Patent EP1572962.
JD071911 - Sequence 52935 from Patent EP1572962.
JD331019 - Sequence 312043 from Patent EP1572962.
JD331018 - Sequence 312042 from Patent EP1572962.
JD341925 - Sequence 322949 from Patent EP1572962.
JD423745 - Sequence 404769 from Patent EP1572962.
JD460174 - Sequence 441198 from Patent EP1572962.
JD311744 - Sequence 292768 from Patent EP1572962.
JD458319 - Sequence 439343 from Patent EP1572962.
JD531405 - Sequence 512429 from Patent EP1572962.
JD378940 - Sequence 359964 from Patent EP1572962.
JD216399 - Sequence 197423 from Patent EP1572962.
JD216400 - Sequence 197424 from Patent EP1572962.
JD209572 - Sequence 190596 from Patent EP1572962.
JD215636 - Sequence 196660 from Patent EP1572962.
JD062286 - Sequence 43310 from Patent EP1572962.
JD373874 - Sequence 354898 from Patent EP1572962.
JD480800 - Sequence 461824 from Patent EP1572962.
JD499505 - Sequence 480529 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P57679 (Reactome details) participates in the following event(s):

R-HSA-5632679 EVC2:EVC binds p-SMO
R-HSA-5633051 EFCAB7:IQCE binds EVC2:EVC
R-HSA-5635838 Activation of SMO
R-HSA-5632684 Hedgehog 'on' state
R-HSA-5358351 Signaling by Hedgehog
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000264956.1, ENST00000264956.10, ENST00000264956.2, ENST00000264956.3, ENST00000264956.4, ENST00000264956.5, ENST00000264956.6, ENST00000264956.7, ENST00000264956.8, ENST00000264956.9, EVC_HUMAN, NM_153717, P57679, uc003gil.1, uc003gil.2, uc003gil.3
UCSC ID: ENST00000264956.11
RefSeq Accession: NM_153717
Protein: P57679 (aka EVC_HUMAN)
CCDS: CCDS3383.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.