• Gene id: 136227

Gene Summary

• Gene Symbol: COL26A1   Gene   UCSC   Ensembl
• Aliases: EMI6, EMID2, EMU2, SH2B
• Gene name: collagen type XXVI alpha 1 chain
• Alternate names: collagen alpha-1(XXVI) chain, EMI domain containing 2, collagen, type XXVI, alpha 1, emilin and multimerin domain-containing protein 2,
• Gene location: 7q22.1 (101362368: 101559023)     Exons: 14     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 608927

Protein Summary

• Protein general information: Q96A83  
  • Name: Collagen alpha 1(XXVI) chain (Alpha 1 type XXVI collagen) (EMI domain containing protein 2) (Emilin and multimerin domain containing protein 2) (Emu2)
  • Length: 441  
  • Mass: 45381
• Sequence:

  MKLALLLPWACCCLCGSALATGFLYPFSAAALQQHGYPEPGAGSPGSGYASRRHWCHHTVTRTVSCQVQNGSETV
  VQRVYQSCRWPGPCANLVSYRTLIRPTYRVSYRTVTVLEWRCCPGFTGSNCDEECMNCTRLSDMSERLTTLEAKV
  LLLEAAERPSSPDNDLPAPESTPPTWNEDFLPDAIPLAHPVPRQRRPTGPAGPPGQTGPPGPAGPPGSKGDRGQT
  GEKGPAGPPGLLGPPGPRGLPGEMGRPGPPGPPGPAGNPGPSPNSPQGALYSLQPPTDKDNGDSRLASAIVDTVL
  AGVPGPRGPPGPPGPPGPRGPPGPPGTPGSQGLAGERGTVGPSGEPGVKGEEGEKAATAEGEGVQQLREALKILA
  ERVLILEHMIGIHDPLASPEGGSGQDAALRANLKMKRGGAQPDGVLAALLGPDPGQKSVDQASSRK

• Structural information:
  • Protein Domains: (52..12-)
    (/note="EMI-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00384-)
    (199..26-)
    (/note="Collagen-like-1)
    (302..35-)
    (/note="Collagen-like-2")
  • Interpro: IPR008160  IPR011489  
  • Prosite: PS51041
  • PDB: 4AU2 4AU3 4BJ3
  • PDBsum: 4AU2 4AU3 4BJ3
  • STRING: ENSP00000318234
• Other Databases: GeneCards:  COL26A1  Malacards:  COL26A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0005581	collagen trimer	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0031012	extracellular matrix	IEA	cellular component
GO:0010811	positive regulation of cell-substrate adhesion	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq