COL22A1 (collagen type XXII alpha 1 chain)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
169044
Gene name Gene Name - the full gene name approved by the HGNC.
Collagen type XXII alpha 1 chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COL22A1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q24.23-q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes member of the collagen family which is thought to contribute to the stabilization of myotendinous junctions and strengthen skeletal muscle attachments during contractile activity. It belongs to the fibril-associated collagens with interr
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs6988229 C>T Drug-response Genic upstream transcript variant, intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(43)
miRTarBase ID miRNA Experiments Reference
MIRT630881 hsa-miR-6500-3p HITS-CLIP 23824327
MIRT630880 hsa-miR-1193 HITS-CLIP 23824327
MIRT630879 hsa-miR-197-3p HITS-CLIP 23824327
MIRT630878 hsa-miR-4436b-5p HITS-CLIP 23824327
MIRT630877 hsa-miR-432-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005581 Component Collagen trimer IEA
GO:0005604 Component Basement membrane IBA
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610026 22989 ENSG00000169436
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8NFW1
Protein name Collagen alpha-1(XXII) chain
Protein function Acts as a cell adhesion ligand for skin epithelial cells and fibroblasts.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00092 VWA 38 → 212 von Willebrand factor type A domain Domain
PF01391 Collagen 522 → 600 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 562 → 630 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 695 → 773 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 744 → 813 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 798 → 856 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 861 → 926 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1043 → 1100 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1116 → 1174 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1156 → 1226 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1249 → 1317 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1297 → 1364 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1401 → 1461 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1494 → 1553 Collagen triple helix repeat (20 copies) Repeat
Tissue specificity TISSUE SPECIFICITY: Restrictive expression is observed at tissue junctions such as the myotendinous junction in skeletal and heart muscle, the articular cartilage-synovial fluid junction, or the border between the anagen hair follicle and the dermis in th
Sequence 
MAGLRGNAVAGLLWMLLLWSGGGGCQAQRAGCKSVHYDLVFLLDTSSSVGKEDFEKVRQW
VANLVDTFEVGPDRTRVGVVRYSDRPTTAFELGLFGSQEEVKAAARRLAYHGGNTNTGDA
LRYITARSFSPHAGGRPRDRAYKQVAILLTDGRSQDLVLDAAAAAHRAGIRIFAVGVGEA
LKEELEEIASEPKSAHVFHVSDFNAIDKIRGKLRRRLCENVLCPSVRVEGDRFKHTNGGT
KEITGFDLMDLFSVKEILGKRENGAQSSYVRMGSFPVVQSTEDVFPQGLPDEYAFVTTFR
FRKTSRKEDWYIWQVIDQYSIPQVSIRLDGENKAVEYNAVGAMKDAVRVVFRGSRVNDLF
DRDWHKMALSIQAQNVSLHIDCALVQTLPIEERENIDIQGKTVIGKRLYDSVPIDFDLQR
IVIYCDSRHAELETCCDIPSGPCQVTVVTEPPPPPPPQRPPTPGSEQIGFLKTINCSCPA
GEKGEMGVAGPMGLPGPKGDIGAIGPVGAPGPKGEKGDVGIGPFGQGEKGEKGSLGLPGP
PGRDGSKGMRGEPGELGEPGLPGEVGMRGPQGPPGLPGPPGRVGAPGLQGERGEKGTRGE
KGERGLDGFPGKPGDTGQQGRPGPSGVAGPQGEKGDVGPAGPPGVPGSVVQQEGLKGEQG
APGPRGHQGAPGPPGARGPIGPEGRDGPPGLQGLRGKKGDMGPPGIPGLLGLQGPPGPPG
VPGPPGPGGSPGLPGEIGFPGKPGPPGPTGPPGKDGPNGPPGPPGTKGEPGERGEDGLPG
KPGLRGEIGEQGLAGRPGEKGEAGLPGAPGFPGVRGEKGDQGEKGELGLPGLKGDRGEKG
EAGPAGPPGLPGTTSLFTPHPRMPGEQGPKGEKGDPGLPGEPGLQGRPGELGPQGPTGPP
GAKGQEGAHGAPGAAGNPGAPGHVGAPGPSGPPGSVGAPGLRGTPGKDGERGEKGAAGEE
GSPGPVGPRGDPGAPGLPGPPGKGKDGEPGLRGSPGLPGPLGTKAACGKVRGSENCALGG
QCVKGDRGAPGIPGSPGSRGDPGIGVAGPPGPSGPPGDKGSPGSRGLPGFPGPQGPAGRD
GAPGNPGERGPPGKPGLSSLLSPGDINLLAKDVCNDCPPGPPGLPGLPGFKGDKGVPGKP
GREGTEGKKGEAGPPGLPGPPGIAGPQGSQGERGADGEVGQKGDQGHPGVPGFMGPPGNP
GPPGADGIAGAAGPPGIQGSPGKEGPPGPQGPSGLPGIPGEEGKEGRDGKPGPPGEPGKA
GEPGLPGPEGARGPPGFKGHTGDSGAPGPRGESGAMGLPGQEGLPGKDGDTGPTGPQGPQ
GPRGPPGKNGSPGSPGEPGPSGTPGQKGSKGENGSPGLPGFLGPRGPPGEPGEKGVPGKE
GVPGKPGEPGFKGERGDPGIKGDKGPPGGKGQPGDPGIPGHKGHTGLMGPQGLPGENGPV
GPPGPPGQPGFPGLRGESPSMETLRRLIQEELGKQLETRLAYLLAQMPPAYMKSSQGRPG
PPGPPGKDGLPGRAGPMGEPGRPGQGGLEGPSGPIGPKGERGAKGDPGAPGVGLRGEMGP
PGIPGQPGEPGYAKDGLPGIPGPQGETGPAGHPGLPGPPGPPGQCDPSQCAYFASLAARP
GNVKGP
Sequence length 1626
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Protein digestion and absorption   Collagen biosynthesis and modifying enzymes
Collagen chain trimerization
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (7)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma (bronchodilator response) N/A N/A GWAS
Cervical Cancer Cervical cancer N/A N/A GWAS
Dementia Dementia N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Squamous Cell Associate 32596344
Cardiomyopathy Dilated Associate 38460409
Fibrosis Associate 30678304
Gastrointestinal Stromal Tumors Associate 25239601, 28130400
Glaucoma Associate 31816047
Head and Neck Neoplasms Associate 34635145
Macular Degeneration Associate 31816047
Migraine Disorders Associate 28627999
Neoplasm Metastasis Associate 36189307
Osteosarcoma Associate 36189307