COL26A1 (collagen type XXVI alpha 1 chain)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
136227
Gene name Gene Name - the full gene name approved by the HGNC.
Collagen type XXVI alpha 1 chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COL26A1
Synonyms (NCBI Gene) Gene synonyms aliases
EMI6, EMID2, EMU2, SH2B
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT733036 hsa-miR-122-5p RNA-seq 33407671
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region TAS
GO:0005581 Component Collagen trimer IEA
GO:0005788 Component Endoplasmic reticulum lumen TAS
GO:0005794 Component Golgi apparatus IEA
GO:0005886 Component Plasma membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608927 18038 ENSG00000160963
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96A83
Protein name Collagen alpha-1(XXVI) chain (Alpha-1 type XXVI collagen) (EMI domain-containing protein 2) (Emilin and multimerin domain-containing protein 2) (Emu2)
PDB 4AU2 , 4AU3 , 4BJ3 , 7BDU , 7BEE , 7BFI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07546 EMI 53 → 123 EMI domain Domain
PF01391 Collagen 194 → 274 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 302 → 361 Collagen triple helix repeat (20 copies) Repeat
Sequence 
MKLALLLPWACCCLCGSALATGFLYPFSAAALQQHGYPEPGAGSPGSGYASRRHWCHHTV
TRTVSCQVQNGSETVVQRVYQSCRWPGPCANLVSYRTLIRPTYRVSYRTVTVLEWRCCPG
FTGSNCDEECMNCTRLSDMSERLTTLEAKVLLLEAAERPSSPDNDLPAPESTPPTWNEDF
LPDAIPLAHPVPRQRRPTGPAGPPGQTGPPGPAGPPGSKGDRGQTGEKGPAGPPGLLGPP
GPRGLPGEMGRPGPPGPPGPAGNPGPSPNSPQGALYSLQPPTDKDNGDSRLASAIVDTVL
AGVPGPRGPPGPPGPPGPRGPPGPPGTPGSQGLAGERGTVGPSGEPGVKGEEGEKAATAE
GEGVQQLREALKILAERVLILEHMIGIHDPLASPEGGSGQDAALRANLKMKRGGAQPDGV
LAALLGPDPGQKSVDQASSRK
Sequence length 441
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Protein digestion and absorption   Collagen degradation
Collagen biosynthesis and modifying enzymes
Collagen chain trimerization
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Show/Hide Text Mining Associations (7)
Associations from Text Mining
Disease Name Relationship Type References
Asthma Associate 22217332
Asthma Aspirin Induced Associate 22217332
Cleft Lip Associate 35191549
Cleft Palate Associate 35191549
Nasal Polyps Associate 22217332
Nose Diseases Associate 22217332
Otofaciocervical Syndrome Associate 35191549