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    COL26A1 collagen type XXVI alpha 1 chain [ Homo sapiens (human) ]

    Gene ID: 136227, updated on 2-Nov-2024

    Summary

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    Official Symbol
    COL26A1provided by HGNC
    Official Full Name
    collagen type XXVI alpha 1 chainprovided by HGNC
    Primary source
    HGNC:HGNC:18038
    See related
    Ensembl:ENSG00000160963 MIM:608927; AllianceGenome:HGNC:18038
    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
    EMI6; EMU2; SH2B; EMID2
    Summary
    This gene encodes a protein containing an emilin domain and two collagen stretches. This gene may be associated with aspirin-intolerant asthma. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
    Expression
    Biased expression in brain (RPKM 3.1), kidney (RPKM 1.3) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See COL26A1 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (101362388..101559024)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (102672964..102878925)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (101006156..101202304)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100943223-100943888 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100945388-100946089 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100946090-100946792 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100952259-100953086 Neighboring gene lncRNA p53 regulated and ESC associated 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18483 Neighboring gene E2F1 mRNA stabilizing lncRNA Neighboring gene intraflagellar transport 22 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101015900-101016438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101029559-101030174 Neighboring gene Sharpr-MPRA regulatory region 586 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:101041899-101042500 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101044285-101044812 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101054568-101055111 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:101063681-101064232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:101064233-101064784 Neighboring gene NANOG hESC enhancer GRCh37_chr7:101065582-101066107 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101079627-101080270 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101080271-101080912 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:101081787-101082746 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101104635-101105147 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101128605-101129258 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101129259-101129911 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101137182-101137752 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101137753-101138322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101146871-101147560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101147561-101148250 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101150569-101151328 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101185407-101186075 Neighboring gene Sharpr-MPRA regulatory region 7535 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:101207140-101208002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:101208003-101208864 Neighboring gene long intergenic non-protein coding RNA 1007 Neighboring gene uncharacterized LOC107986832

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. EMID2 is a novel biotherapeutic for aggressive cancers identified by in vivo screening. Cappelletto A, et al. J Exp Clin Cancer Res, 2024 Jan 10. PMID 38195652, Free PMC Article
    2. A possible association of EMID2 polymorphisms with aspirin hypersensitivity in asthma. Pasaje CF, et al. Immunogenetics, 2011 Jan. PMID 21086123
    3. Enhancer-adoption as a mechanism of human developmental disease. Lettice LA, et al. Hum Mutat, 2011 Dec. PMID 21948517
    4. Possible role of EMID2 on nasal polyps pathogenesis in Korean asthma patients. Pasaje CF, et al. BMC Med Genet, 2012 Jan 4. PMID 22217332, Free PMC Article
    5. Type XXVI collagen, a new member of the collagen family, is specifically expressed in the testis and ovary. Sato K, et al. J Biol Chem, 2002 Oct 4. PMID 12145293

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. EMID2 is a novel biotherapeutic for aggressive cancers identified by in vivo screening.
      Title: EMID2 is a novel biotherapeutic for aggressive cancers identified by in vivo screening.
    2. 13 EMID2 variants were significantly associated with the presence of nasal polyps in the overall asthma group.
      Title: Possible role of EMID2 on nasal polyps pathogenesis in Korean asthma patients.
    3. EMID2 may be a susceptible genetic factor for aspirin hypersensitivity among asthmatics in Korean population.
      Title: A possible association of EMID2 polymorphisms with aspirin hypersensitivity in asthma.
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: A possible association of EMID2 polymorphisms with aspirin hypersensitivity in asthma.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC129848

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of cell-substrate adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of collagen type XXVI trimer NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    collagen alpha-1(XXVI) chain
    Names
    EMI domain containing 2
    collagen, type XXVI, alpha 1
    emilin and multimerin domain-containing protein 2

    NCBI Reference Sequences (RefSeq)

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    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_033785.2 RefSeqGene

      Range
      5056..201205
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278563.3 → NP_001265492.1  collagen alpha-1(XXVI) chain isoform 1 precursor

      See identical proteins and their annotated locations for NP_001265492.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AJ416091, BC085006, BC110393, BU845945, CX163123
      Consensus CDS
      CCDS64739.1
      UniProtKB/Swiss-Prot
      Q32M90, Q96A83
      Related
      ENSP00000318234.8, ENST00000313669.12
      Conserved Domains (1) summary
      pfam07546
      Location:54 → 122
      EMI; EMI domain

    2. NM_133457.5 → NP_597714.2  collagen alpha-1(XXVI) chain isoform 2 precursor

      See identical proteins and their annotated locations for NP_597714.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      BC085006, BC109254, BC110393, BU845945, CX163123
      UniProtKB/Swiss-Prot
      Q96A83
      Related
      ENSP00000482102.1, ENST00000613501.1
      Conserved Domains (1) summary
      pfam07546
      Location:54 → 120
      EMI; EMI domain

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      101362388..101559024
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011744.2 → XP_016867233.1  collagen alpha-1(XXVI) chain isoform X1

    2. XM_017011743.2 → XP_016867232.1  collagen alpha-1(XXVI) chain isoform X2

    3. XM_047419882.1 → XP_047275838.1  collagen alpha-1(XXVI) chain isoform X3

    4. XM_017011745.1 → XP_016867234.1  collagen alpha-1(XXVI) chain isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      102672964..102878925
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357233.1 → XP_054213208.1  collagen alpha-1(XXVI) chain isoform X4

      UniProtKB/Swiss-Prot
      Q32M90, Q96A83

    2. XM_054357234.1 → XP_054213209.1  collagen alpha-1(XXVI) chain isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96A83.1 GenPept UniProtKB/Swiss-Prot:Q96A83

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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