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

    Gene ID: 132884, updated on 17-Jun-2024

    Summary

    Official Symbol
    EVC2provided by HGNC
    Official Full Name
    EvC ciliary complex subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:19747
    See related
    Ensembl:ENSG00000173040 MIM:607261; AllianceGenome:HGNC:19747
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 2.2), endometrium (RPKM 1.3) and 22 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See EVC2 in Genome Data Viewer
    Location:
    4p16.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (5529011..5709548, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (5498451..5681203, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (5564166..5711275, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene serine/threonine kinase 32B Neighboring gene RN7SK pseudogene 275 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 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 active region 21243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21242 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15223 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15222 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 EvC ciliary complex subunit 1 Neighboring gene NANOG hESC enhancer GRCh37_chr4:5876470-5876991 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 collapsin response mediator protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5923869-5924368 Neighboring gene chromosome 4 open reading frame 50 Neighboring gene microRNA 378d-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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus HDA PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of plasma membrane protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    limbin
    Names
    Ellis van Creveld syndrome 2
    ellis-van Creveld syndrome protein 2

    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_015821.2 RefSeqGene

      Range
      5989..152109
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166136.2NP_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/TrEMBL
      A0A0A0RAS4
      Related
      ENSP00000311683.2, ENST00000310917.6
      Conserved Domains (1) summary
      pfam12297
      Location:157580
      EVC2_like; Ellis van Creveld protein 2 like protein
    2. NM_147127.5NP_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, Q86YT3, Q86YT4, Q8NG49
      UniProtKB/TrEMBL
      A0A0A0RAS4
      Related
      ENSP00000342144.5, ENST00000344408.10
      Conserved Domains (1) summary
      pfam12297
      Location:237660
      EVC2_like; Ellis van Creveld protein 2 like protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      5529011..5709548 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449611.1XP_047305567.1  limbin isoform X2

      UniProtKB/TrEMBL
      A0A0C4DGE7
    2. XM_017007736.2XP_016863225.1  limbin isoform X1

      UniProtKB/TrEMBL
      A0A0A0RAS4
      Conserved Domains (1) summary
      pfam12297
      Location:157580
      EVC2_like; Ellis van Creveld protein 2 like protein
    3. XM_047449610.1XP_047305566.1  limbin isoform X1

      UniProtKB/TrEMBL
      A0A0A0RAS4
    4. XM_047449612.1XP_047305568.1  limbin isoform X3

      UniProtKB/TrEMBL
      A0A0C4DGE7
    5. XM_017007738.2XP_016863227.1  limbin isoform X4

      UniProtKB/TrEMBL
      A0A0A0RAS4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      5498451..5681203 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348934.1XP_054204909.1  limbin isoform X2

      UniProtKB/TrEMBL
      A0A0C4DGE7
    2. XM_054348933.1XP_054204908.1  limbin isoform X1

      UniProtKB/TrEMBL
      A0A0A0RAS4
    3. XM_054348932.1XP_054204907.1  limbin isoform X1

      UniProtKB/TrEMBL
      A0A0A0RAS4
    4. XM_054348935.1XP_054204910.1  limbin isoform X3

      UniProtKB/TrEMBL
      A0A0C4DGE7
    5. XM_054348936.1XP_054204911.1  limbin isoform X4

      UniProtKB/TrEMBL
      A0A0A0RAS4