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EVC

GENERAL INFORMATION

Gene name

 EVC

Gene description

 Ellis van Creveld protein

Protein class

 Disease related genes
Predicted membrane proteins

Predicted localization

 Membrane

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Mixed
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Ubiquitous nuclear and cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data. Pending external verification.

Reliability score

 Uncertain based on 2 antibodies.
HPA008703 , HPA016046
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 EVC (HGNC Symbol)

Synonyms

 DWF-1

Description

 Ellis van Creveld protein (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 4

Cytoband

 p16.2

Chromosome location (bp)

 5711197 - 5814305

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000072840 (version 83.38)

Entrez gene

 2121

UniProt

 P57679 (UniProt - Evidence at protein level)

neXtProt

 NX_P57679

Antibodypedia

 EVC antibodies

PROTEIN BROWSER
EVC-001
EVC-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
EVC-001
ENSP00000264956
ENST00000264956
P57679 [Direct mapping]
Ellis-van Creveld syndrome protein
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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Protein evidence (Kim et al 2014)
Show all
GO:0001501 [skeletal system development]
GO:0003416 [endochondral bone growth]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005929 [cilium]
GO:0007224 [smoothened signaling pathway]
GO:0007517 [muscle organ development]
GO:0016021 [integral component of membrane]
GO:0036064 [ciliary basal body]
GO:0045880 [positive regulation of smoothened signaling pathway]
GO:0051216 [cartilage development]
GO:0060170 [ciliary membrane]
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 992 aa
112 kDa 		No 1
EVC-002
ENSP00000426774
ENST00000509451
E9PCN4 [Direct mapping]
Ellis-van Creveld syndrome protein
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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Show all
GO:0007224 [smoothened signaling pathway]
GO:0016021 [integral component of membrane]
Show all
 535 aa
60 kDa 		No 1

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.