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

Gene ID: 136227, updated on 22-Aug-2020

Summary

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
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

Genomic context

See COL26A1 in Genome Data Viewer
Location:
7q22.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (101362369..101559024)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (101006101..101202304)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene lncRNA p53 regulated and ESC associated 1 Neighboring gene E2F1 mRNA stabilizing lncRNA Neighboring gene intraflagellar transport 22 Neighboring gene uncharacterized LOC105379743 Neighboring gene long intergenic non-protein coding RNA 1007 Neighboring gene uncharacterized LOC107986832

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
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
GeneReviews: Not available
Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC129848

Gene Ontology Provided by GOA

Process Evidence Code Pubs
positive regulation of cell-substrate adhesion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
collagen trimer IEA
Inferred from Electronic Annotation
more info
 
collagen-containing extracellular matrix HDA PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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)

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_001278563.3NP_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
    Q96A83
    Related
    ENSP00000318234.8, ENST00000313669.12
    Conserved Domains (1) summary
    pfam07546
    Location:54122
    EMI; EMI domain
  2. NM_133457.5NP_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:54120
    EMI; EMI domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    101362369..101559024
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011743.1XP_016867232.1  collagen alpha-1(XXVI) chain isoform X1

  2. XM_017011744.1XP_016867233.1  collagen alpha-1(XXVI) chain isoform X2

  3. XM_017011745.1XP_016867234.1  collagen alpha-1(XXVI) chain isoform X2

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