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

Gene ID: 2121, updated on 2-Nov-2024

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; AllianceGenome:HGNC:3497
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
NEW
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Try the new Transcript table

Genomic context

See EVC in Genome Data Viewer
Location:
4p16.2
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (5711201..5829057)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (5682855..5800650)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (5712928..5816032)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:5526681-5527880 Neighboring gene uncharacterized LOC124900166 Neighboring gene long intergenic non-protein coding RNA 1587 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:5593995-5594527 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5595317-5595818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5595819-5596318 Neighboring gene EvC ciliary complex subunit 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:5610365-5610542 Neighboring gene NANOG hESC enhancer GRCh37_chr4:5613379-5613880 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:5641443-5642642 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:5666069-5667268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21241 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5710226-5710845 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:5754671-5755626 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:5760129-5761328 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:5774235-5774978 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:5774979-5775720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21246 Neighboring gene NANOG hESC enhancer GRCh37_chr4:5876470-5876991 Neighboring gene collapsin response mediator protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5888332-5888859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5888860-5889386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5891930-5892674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5892675-5893418 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:5914348-5914973 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5923869-5924368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5926351-5926851 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5932940-5933440 Neighboring gene chromosome 4 open reading frame 50 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5947182-5947682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:5957977-5958528 Neighboring gene microRNA 378d-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15225 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5972715-5973525 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5975147-5975708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5975709-5976269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5995614-5996166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5996167-5996718 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:6050907-6052106 Neighboring gene uncharacterized LOC128125818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6071730-6072660 Neighboring gene janus kinase and microtubule interacting protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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: Ellis-van Creveld Syndrome
Compare labs

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC105107

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
evC complex member EVC
Names
Ellis van Creveld protein
Ellis van Creveld syndrome
ellis-van Creveld syndrome protein

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_008843.2 RefSeqGene

    Range
    5002..108106
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001306090.2NP_001293019.1  evC complex member EVC 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/TrEMBL
    Q4W5F2
  2. NM_001306092.2NP_001293021.1  evC complex member EVC 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/TrEMBL
    E9PCN4, Q5U3C2
    Related
    ENSP00000426774.1, ENST00000509451.1
  3. NM_153717.3NP_714928.1  evC complex member EVC 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
    UniProtKB/TrEMBL
    Q4W5F2
    Related
    ENSP00000264956.6, ENST00000264956.11

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    5711201..5829057
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047449774.1XP_047305730.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  2. XM_047449769.1XP_047305725.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  3. XM_047449778.1XP_047305734.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  4. XM_047449773.1XP_047305729.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  5. XM_047449786.1XP_047305742.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  6. XM_047449781.1XP_047305737.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  7. XM_047449777.1XP_047305733.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  8. XM_047449776.1XP_047305732.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  9. XM_047449780.1XP_047305736.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  10. XM_047449779.1XP_047305735.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  11. XM_047449785.1XP_047305741.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  12. XM_047449795.1XP_047305751.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  13. XM_047449775.1XP_047305731.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  14. XM_047449771.1XP_047305727.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  15. XM_047449784.1XP_047305740.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  16. XM_047449772.1XP_047305728.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  17. XM_047449787.1XP_047305743.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  18. XM_047449792.1XP_047305748.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  19. XM_047449789.1XP_047305745.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  20. XM_047449790.1XP_047305746.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  21. XM_047449798.1XP_047305754.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  22. XM_047449796.1XP_047305752.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  23. XM_047449770.1XP_047305726.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  24. XM_047449783.1XP_047305739.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  25. XM_047449782.1XP_047305738.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  26. XM_047449788.1XP_047305744.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  27. XM_047449791.1XP_047305747.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  28. XM_047449797.1XP_047305753.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  29. XM_047449793.1XP_047305749.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  30. XM_047449794.1XP_047305750.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  31. XM_047449799.1XP_047305755.1  evC complex member EVC isoform X1

    UniProtKB/Swiss-Prot
    P57679
  32. XM_047449800.1XP_047305756.1  evC complex member EVC isoform X2

  33. XM_047449801.1XP_047305757.1  evC complex member EVC isoform X2

  34. XM_047449807.1XP_047305763.1  evC complex member EVC isoform X2

  35. XM_047449804.1XP_047305760.1  evC complex member EVC isoform X2

  36. XM_047449803.1XP_047305759.1  evC complex member EVC isoform X2

  37. XM_047449802.1XP_047305758.1  evC complex member EVC isoform X2

  38. XM_047449805.1XP_047305761.1  evC complex member EVC isoform X2

  39. XM_047449806.1XP_047305762.1  evC complex member EVC isoform X2

  40. XM_047449808.1XP_047305764.1  evC complex member EVC isoform X3

  41. XM_047449809.1XP_047305765.1  evC complex member EVC isoform X4

  42. XM_011513419.3XP_011511721.1  evC complex member EVC isoform X6

    UniProtKB/TrEMBL
    Q5U3C2
  43. XM_017007883.3XP_016863372.1  evC complex member EVC isoform X7

    UniProtKB/TrEMBL
    Q5U3C2
  44. XM_047449810.1XP_047305766.1  evC complex member EVC isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    5682855..5800650
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349202.1XP_054205177.1  evC complex member EVC isoform X1

  2. XM_054349197.1XP_054205172.1  evC complex member EVC isoform X1

  3. XM_054349206.1XP_054205181.1  evC complex member EVC isoform X1

  4. XM_054349201.1XP_054205176.1  evC complex member EVC isoform X1

  5. XM_054349214.1XP_054205189.1  evC complex member EVC isoform X1

  6. XM_054349209.1XP_054205184.1  evC complex member EVC isoform X1

  7. XM_054349205.1XP_054205180.1  evC complex member EVC isoform X1

  8. XM_054349204.1XP_054205179.1  evC complex member EVC isoform X1

  9. XM_054349208.1XP_054205183.1  evC complex member EVC isoform X1

  10. XM_054349207.1XP_054205182.1  evC complex member EVC isoform X1

  11. XM_054349213.1XP_054205188.1  evC complex member EVC isoform X1

  12. XM_054349223.1XP_054205198.1  evC complex member EVC isoform X1

  13. XM_054349203.1XP_054205178.1  evC complex member EVC isoform X1

  14. XM_054349199.1XP_054205174.1  evC complex member EVC isoform X1

  15. XM_054349212.1XP_054205187.1  evC complex member EVC isoform X1

  16. XM_054349200.1XP_054205175.1  evC complex member EVC isoform X1

  17. XM_054349215.1XP_054205190.1  evC complex member EVC isoform X1

  18. XM_054349220.1XP_054205195.1  evC complex member EVC isoform X1

  19. XM_054349217.1XP_054205192.1  evC complex member EVC isoform X1

  20. XM_054349218.1XP_054205193.1  evC complex member EVC isoform X1

  21. XM_054349226.1XP_054205201.1  evC complex member EVC isoform X1

  22. XM_054349224.1XP_054205199.1  evC complex member EVC isoform X1

  23. XM_054349198.1XP_054205173.1  evC complex member EVC isoform X1

  24. XM_054349211.1XP_054205186.1  evC complex member EVC isoform X1

  25. XM_054349210.1XP_054205185.1  evC complex member EVC isoform X1

  26. XM_054349216.1XP_054205191.1  evC complex member EVC isoform X1

  27. XM_054349219.1XP_054205194.1  evC complex member EVC isoform X1

  28. XM_054349225.1XP_054205200.1  evC complex member EVC isoform X1

  29. XM_054349221.1XP_054205196.1  evC complex member EVC isoform X1

  30. XM_054349222.1XP_054205197.1  evC complex member EVC isoform X1

  31. XM_054349227.1XP_054205202.1  evC complex member EVC isoform X1

  32. XM_054349228.1XP_054205203.1  evC complex member EVC isoform X2

  33. XM_054349229.1XP_054205204.1  evC complex member EVC isoform X2

  34. XM_054349235.1XP_054205210.1  evC complex member EVC isoform X2

  35. XM_054349232.1XP_054205207.1  evC complex member EVC isoform X2

  36. XM_054349231.1XP_054205206.1  evC complex member EVC isoform X2

  37. XM_054349230.1XP_054205205.1  evC complex member EVC isoform X2

  38. XM_054349233.1XP_054205208.1  evC complex member EVC isoform X2

  39. XM_054349234.1XP_054205209.1  evC complex member EVC isoform X2

  40. XM_054349236.1XP_054205211.1  evC complex member EVC isoform X3

  41. XM_054349237.1XP_054205212.1  evC complex member EVC isoform X4

  42. XM_054349239.1XP_054205214.1  evC complex member EVC isoform X6

  43. XM_054349240.1XP_054205215.1  evC complex member EVC isoform X7

  44. XM_054349238.1XP_054205213.1  evC complex member EVC isoform X5

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.