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EVC2 EvC ciliary complex subunit 2 [ Homo sapiens (human) ]

Gene ID: 132884, updated on 26-May-2016
Official Symbol
EVC2provided by HGNC
Official Full Name
EvC ciliary complex subunit 2provided by HGNC
Primary source
HGNC:HGNC:19747
See related
Ensembl:ENSG00000173040 HPRD:06269; MIM:607261; Vega:OTTHUMG00000125493
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
LBN; WAD
Summary
This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Orthologs
Location:
4p16.2
Exon count:
24
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (5534397..5709548, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (5544531..5711275, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene serine/threonine kinase 32B Neighboring gene uncharacterized LOC105374362 Neighboring gene long intergenic non-protein coding RNA 1587 Neighboring gene EvC ciliary complex subunit 1 Neighboring gene collapsin response mediator protein 1 Neighboring gene microRNA 378d-1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Activation of SMO, organism-specific biosystem (from REACTOME)
    Activation of SMO, organism-specific biosystemActivation of the transmembrane protein SMO in response to Hh stimulation is a major control point in the Hh signaling pathway (reviewed in Ayers and Therond, 2010; Jiang and Hui, 2008). In the absen...
  • Hedgehog 'on' state, organism-specific biosystem (from REACTOME)
    Hedgehog 'on' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
    Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
ciliary membrane TAS
Traceable Author Statement
more info
 
cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
limbin
Names
Ellis van Creveld syndrome 2
ellis-van Creveld syndrome protein 2

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_015821.1 RefSeqGene

    Range
    5982..152130
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166136.1NP_001159608.1  limbin isoform 2

    See identical proteins and their annotated locations for NP_001159608.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translational start codon, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AC114738, AC116613, AW137166, AY152402, BG755658
    Consensus CDS
    CCDS54718.1
    UniProtKB/Swiss-Prot
    Q86UK5
    Related
    ENSP00000311683, OTTHUMP00000155147, ENST00000310917, OTTHUMT00000246819
    Conserved Domains (1) summary
    pfam12297
    Location:157581
    EVC2_like; Ellis van Creveld protein 2 like protein
  2. NM_147127.4NP_667338.3  limbin isoform 1

    See identical proteins and their annotated locations for NP_667338.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).
    Source sequence(s)
    AW137166, AY185210, BG755658
    Consensus CDS
    CCDS3382.2
    UniProtKB/Swiss-Prot
    Q86UK5
    Related
    ENSP00000342144, OTTHUMP00000184918, ENST00000344408, OTTHUMT00000289822
    Conserved Domains (1) summary
    pfam12297
    Location:237661
    EVC2_like; Ellis van Creveld protein 2 like protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

    Range
    5534397..5709548 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513393.1XP_011511695.1  

    Conserved Domains (1) summary
    pfam12297
    Location:237664
    EVC2_like; Ellis van Creveld protein 2 like protein
  2. XM_011513394.1XP_011511696.1  

    Conserved Domains (1) summary
    pfam12297
    Location:157584
    EVC2_like; Ellis van Creveld protein 2 like protein
  3. XM_011513392.1XP_011511694.1  

    Conserved Domains (1) summary
    pfam12297
    Location:237664
    EVC2_like; Ellis van Creveld protein 2 like protein

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 Alternate CHM1_1.1

    Range
    5562086..5709281 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)