Seroatlas · Human Serome Atlas

EVC

EvC complex member EVC

Also known as: DWF-1, EVC_HUMAN, EVC1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P57679
Gene
EVC
Ensembl
ENSG00000072840
Chromosome
4
Canonical length
992 aa
Protein class
Disease related genes, Human disease related genes, Predicted membrane proteins
Subcellular location
Nucleoplasm,Primary cilium transition zone,Basal body,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

992 residues, UniProt reviewed canonical sequence.

>P57679|EVC
     1  MARGGAACKS DARLLLGRDA LRPAPALLAP AVLLGAALGL GLGLWLGCRA GRQRTRHQKD
    61  DTQNLLKNLE SNAQTPSETG SPSRRRKREV QMSKDKEAVD ECEPPSNSNI TAFALKAKVI
   121  YPINQKFRPL ADGSSNPSLH ENLKQAVLPH QPVEASPSSS LGSLSQGEKD DCSSSSSVHS
   181  ATSDDRFLSR TFLRVNAFPE VLACESVDVD LCIYSLHLKD LLHLDTALRQ EKHMMFIQIF
   241  KMCLLDLLPK KKSDDELYQK ILSKQEKDLE ELEKGLQVKL SNTEMSGAGD SEYITLADVE
   301  KKEREYSEQL IDNMEAFWKQ MANIQHFLVD QFKCSSSKAR QLMMTLTERM IAAEGLLCDS
   361  QELQALDALE RTMGRAHMAK VIEFLKLQVQ EETRCRLAAI SHGLELLAGE GKLSGRQKEE
   421  LLTQQHKAFW QEAERFSREF VQRGKDLVTA SLAHQVEGTA KLTLAQEEEQ RSFLAEAQPT
   481  ADPEKFLEAF HEVLERQRLM QCDLEEEENV RATEAVVALC QELYFSTVDT FQKFVDALFL
   541  QTLPGMTGLP PEECDYLRQE VQENAAWQLG KSNRFRRQQW KLFQELLEQD QQVWMEECAL
   601  SSVLQTHLRE DHEGTIRGVL GRLGGLTEES TRCVLQGHDL LLRSALRRLA LRGNALATLT
   661  QMRLSGKKHL LQELREQRAL EQGSSQCLDE HQWQLLRALE ARVLEEASRL EEEAQQTRLQ
   721  LQQRLLAEAQ EVGQLLQQHM ECAIGQALLV HARNAATKSR AKDRDDFKRT LMEAAVESVY
   781  VTSAGVSRLV QAYYQQIGRI MEDHEERKLQ HLKTLQGERM ENYKLRKKQE LSNPSSGSRT
   841  AGGAHETSQA VHQRMLSQQK RFLAQFPVHQ QMRLHAQQQQ AGVMDLLEAQ LETQLQEAEQ
   901  NFISELAALA RVPLAESKLL PAKRGLLEKP LRTKRKKPLP QERGDLGVPN NEDLASGDQT
   961  SGSLSSKRLS QQESEAGDSG NSKKMLKRRS NL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EVC can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.4
Highest tissue expression
24 nTPM

Expression across tissuesHPA

Tissue

  • kidney: 24 nTPM
  • ovary: 24 nTPM
  • parathyroid gland: 18 nTPM
  • gallbladder: 13 nTPM
  • fallopian tube: 13 nTPM
  • blood vessel: 13 nTPM

Single-cell type

  • loop of henle epithelial cells: 217 nCPM
  • proximal tubule cells: 163 nCPM
  • myosatellite cells: 97 nCPM
  • fibro-adipogenic progenitors: 73 nCPM
  • distal convoluted tubule cells: 71 nCPM
  • renal collecting duct intercalated cells: 60 nCPM

Immune cell

  • basophil: 0.1 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • choroid plexus: 13 nTPM
  • medulla oblongata: 11 nTPM
  • thalamus: 9.3 nTPM
  • midbrain: 8.5 nTPM
  • spinal cord: 8.5 nTPM
  • basal ganglia: 8.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EVC.

Disease | AllUniProt

Conditions EVC is implicated in, by any mechanism.

Disease | GeneticClinVar

320 pathogenic / likely-pathogenic of 2,103 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.06
gnomAD pLI
0
gnomAD missense Z
-1.25
DepMap mean gene effect
0.1
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EVC in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EVC as an antibody target. Whether an autoantibody or antibody against EVC could matter depends on whether native EVC is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EVC is annotated at the cell surface, where native EVC is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label EVC as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EVC. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...