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

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; 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

Location:: 7q22.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (101362388..101559024)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (102672964..102878925)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (101006156..101202304)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

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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 EBI GWAS CatalogPubMed
Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

NoName (e-PCR)
- UniSTS:487185

D2S1301 (e-PCR)
- UniSTS:5929

D7S662 (e-PCR)
- UniSTS:43837

GDB:1317956 (e-PCR)
- UniSTS:55142

GDB:1318440 (e-PCR)
- UniSTS:59262

D7S662 (e-PCR)
- UniSTS:68995

D7S2245 (e-PCR)
- UniSTS:51866

D7S2085E (e-PCR)
- UniSTS:51867

D7S662 (e-PCR)
- UniSTS:59298

D7S2932 (e-PCR)
- UniSTS:62444

D7S1682 (e-PCR)
- UniSTS:149742

SHGC-147091 (e-PCR)
- UniSTS:175605

Gene Ontology Provided by GOA

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 more info	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

NG_033785.2 RefSeqGene

Range

5056..201205

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

101362388..101559024

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017011744.2 → XP_016867233.1 collagen alpha-1(XXVI) chain isoform X1
XM_017011743.2 → XP_016867232.1 collagen alpha-1(XXVI) chain isoform X2
XM_047419882.1 → XP_047275838.1 collagen alpha-1(XXVI) chain isoform X3
XM_017011745.1 → XP_016867234.1 collagen alpha-1(XXVI) chain isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

102672964..102878925

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q32M90, Q96A83
XM_054357234.1 → XP_054213209.1 collagen alpha-1(XXVI) chain isoform X1