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EVC EvC ciliary complex subunit 1 [ Homo sapiens (human) ]

Gene ID: 2121, updated on 1-Jun-2020

Summary

Official Symbol
EVCprovided by HGNC
Official Full Name
EvC ciliary complex subunit 1provided by HGNC
Primary source
HGNC:HGNC:3497
See related
Ensembl:ENSG00000072840 MIM:604831
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EVC1; EVCL; DWF-1
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]
Expression
Broad expression in ovary (RPKM 10.7), kidney (RPKM 10.3) and 23 other tissues See more
Orthologs

Genomic context

See EVC in Genome Data Viewer
Location:
4p16.2
Exon count:
30
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (5711199..5829043)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (5712924..5816031)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1587 Neighboring gene EvC ciliary complex subunit 2 Neighboring gene collapsin response mediator protein 1 Neighboring gene chromosome 4 open reading frame 50 Neighboring gene microRNA 378d-1 Neighboring gene janus kinase and microtubule interacting protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Curry-Hall syndrome
MedGen: C0457013 OMIM: 193530 GeneReviews: Not available
Compare labs
Ellis-van Creveld syndrome
MedGen: C0013903 OMIM: 225500 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC105107

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cartilage development IEA
Inferred from Electronic Annotation
more info
 
endochondral bone growth ISS
Inferred from Sequence or Structural Similarity
more info
 
muscle organ development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
 
ciliary membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary membrane TAS
Traceable Author Statement
more info
 
cilium IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane protein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane protein complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ellis-van Creveld syndrome protein
Names
Ellis van Creveld protein
Ellis van Creveld syndrome

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008843.1 RefSeqGene

    Range
    5005..108109
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001306090.2NP_001293019.1  ellis-van Creveld syndrome protein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AC105915, AF216185, AF239742
    UniProtKB/Swiss-Prot
    P57679
  2. NM_001306092.2NP_001293021.1  ellis-van Creveld syndrome protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks exons in the 3' coding region and uses an alternate 3' terminal exon compared to variant 1. It encodes isoform 3, which is shorter than and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC105915, AF216185, BC085608
    Consensus CDS
    CCDS77896.1
    UniProtKB/Swiss-Prot
    P57679
    UniProtKB/TrEMBL
    E9PCN4, Q5U3C2
    Related
    ENSP00000426774.1, ENST00000509451.1
  3. NM_153717.3NP_714928.1  ellis-van Creveld syndrome protein isoform 1

    See identical proteins and their annotated locations for NP_714928.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC105915, AF216185
    Consensus CDS
    CCDS3383.1
    UniProtKB/Swiss-Prot
    P57679
    Related
    ENSP00000264956.6, ENST00000264956.11

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    5711199..5829043
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713865.3XP_006713928.1  ellis-van Creveld syndrome protein isoform X1

  2. XM_006713866.3XP_006713929.1  ellis-van Creveld syndrome protein isoform X2

  3. XM_011513419.2XP_011511721.1  ellis-van Creveld syndrome protein isoform X3

  4. XM_017007883.2XP_016863372.1  ellis-van Creveld syndrome protein isoform X4

RNA

  1. XR_001741169.2 RNA Sequence

  2. XR_001741170.1 RNA Sequence

  3. XR_001741165.1 RNA Sequence

  4. XR_924920.2 RNA Sequence

  5. XR_924921.2 RNA Sequence

  6. XR_924924.2 RNA Sequence

  7. XR_924926.2 RNA Sequence

  8. XR_427473.3 RNA Sequence

  9. XR_001741166.1 RNA Sequence

  10. XR_001741167.1 RNA Sequence

  11. XR_924922.2 RNA Sequence

  12. XR_427475.3 RNA Sequence

  13. XR_001741164.1 RNA Sequence

  14. XR_924925.2 RNA Sequence

  15. XR_427476.3 RNA Sequence

  16. XR_001741168.1 RNA Sequence

  17. XR_001741171.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_014556.2: Suppressed sequence

    Description
    NM_014556.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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