COL22A1 (collagen type XXII alpha 1 chain)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 169044
• Gene name: Collagen type XXII alpha 1 chain
• Gene symbol: COL22A1
• Synonyms (NCBI Gene): -
• Chromosome: 8
• Chromosome location: 8q24.23-q24.3
• Summary: 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 ID	Visualize variation	Clinical significance	Consequence
rs6988229	C>T	Drug-response	Genic upstream transcript variant, intron variant

miRNA 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
MIRT630876	hsa-miR-5587-5p	HITS-CLIP	23824327
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
MIRT630876	hsa-miR-5587-5p	HITS-CLIP	23824327
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
MIRT630876	hsa-miR-5587-5p	HITS-CLIP	23824327
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
MIRT630876	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT902753	hsa-miR-105	CLIP-seq
MIRT902754	hsa-miR-29a	CLIP-seq
MIRT902755	hsa-miR-29b	CLIP-seq
MIRT902756	hsa-miR-29c	CLIP-seq
MIRT902757	hsa-miR-3662	CLIP-seq
MIRT902758	hsa-miR-4778-5p	CLIP-seq
MIRT902759	hsa-miR-513c	CLIP-seq
MIRT902760	hsa-miR-514b-5p	CLIP-seq
MIRT2203536	hsa-miR-4418	CLIP-seq
MIRT2203537	hsa-miR-509-3-5p	CLIP-seq
MIRT2203538	hsa-miR-509-5p	CLIP-seq
MIRT902754	hsa-miR-29a	CLIP-seq
MIRT902755	hsa-miR-29b	CLIP-seq
MIRT902756	hsa-miR-29c	CLIP-seq
MIRT902757	hsa-miR-3662	CLIP-seq
MIRT902754	hsa-miR-29a	CLIP-seq
MIRT902755	hsa-miR-29b	CLIP-seq
MIRT902756	hsa-miR-29c	CLIP-seq
MIRT902757	hsa-miR-3662	CLIP-seq

Gene ontology (GO) 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
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA

Other IDs

• MIM: 610026
• HGNC: 22989
• e!Ensembl: ENSG00000169436

Protein

• 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	861 → 926	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1116 → 1174	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	562 → 630	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	798 → 856	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1401 → 1461	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1043 → 1100	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1297 → 1364	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	744 → 813	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1249 → 1317	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1156 → 1226	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1494 → 1553	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	522 → 600	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	695 → 773	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

Pathways

KEGG Pathway	Reactome Pathway
Protein digestion and absorption	Collagen biosynthesis and modifying enzymes
	Collagen chain trimerization

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (23)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ANXIETY DISORDER	—	GWAS catalog	25390645	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	33893285	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	33893285	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	33893285	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER	—	GWAS catalog	35157032	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	35157032	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	38411962	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	39046104	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACRANIAL ANEURYSM	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	33893285	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	31504550	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	39358599	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	39358599	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	33893285	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DEGENERATION	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DETACHMENT	—	GWAS catalog	31816047, 32352494, 34594039, 35841873, 39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	33893285, 35396580	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	CTD	22941189	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	38162683	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	40050615	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (18)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32596344	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	38460409	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Scleroderma	Scleroderma	BEFREE	27111861		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	25239601		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	25239601, 28130400	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	31816047	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	34635145	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	30541770		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	31816047	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	31123309		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	Pubtator	28627999	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	24131632		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36189307	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	31816047, 32352494	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma Diffuse	Scleroderma	Pubtator	27111861	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	30678304	Stimulate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	CTD_human_DG	22941189		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

COL23A1 1 shared diseasePsychiatric disorders 3 shared pathwaysProtein digestion and absorption, Collagen biosynthesis and modifying enzymes, Collagen chain trimerization 1 shared evidence sourceGWAS catalog (Psychiatric disorders) Related via 3 shared pathways including Protein digestion and absorption, Collagen biosynthesis and modifying enzymes — evidence mostly GWAS catalog. COL21A1 1 shared diseaseSmall cell lung carcinoma 3 shared pathwaysProtein digestion and absorption, Collagen biosynthesis and modifying enzymes, Collagen chain trimerization Related via 3 shared pathways including Protein digestion and absorption, Collagen biosynthesis and modifying enzymes. COL28A1 3 shared pathwaysProtein digestion and absorption, Collagen biosynthesis and modifying enzymes, Collagen chain trimerization Related via 3 shared pathways including Protein digestion and absorption, Collagen biosynthesis and modifying enzymes. COL20A1 3 shared pathwaysProtein digestion and absorption, Collagen biosynthesis and modifying enzymes, Collagen chain trimerization Related via 3 shared pathways including Protein digestion and absorption, Collagen biosynthesis and modifying enzymes. COL16A1 3 shared pathwaysProtein digestion and absorption, Collagen biosynthesis and modifying enzymes, Collagen chain trimerization Related via 3 shared pathways including Protein digestion and absorption, Collagen biosynthesis and modifying enzymes.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
COL23A1	1	["Psychiatric disorders"]	3	["Protein digestion and absorption","Collagen biosynthesis and modifying enzymes","Collagen chain trimerization"]	1	["GWAS catalog (Psychiatric disorders)"]
COL21A1	1	["Small cell lung carcinoma"]	3	["Protein digestion and absorption","Collagen biosynthesis and modifying enzymes","Collagen chain trimerization"]	0	[]
COL28A1	0	[]	3	["Protein digestion and absorption","Collagen biosynthesis and modifying enzymes","Collagen chain trimerization"]	0	[]
COL20A1	0	[]	3	["Protein digestion and absorption","Collagen biosynthesis and modifying enzymes","Collagen chain trimerization"]	0	[]
COL16A1	0	[]	3	["Protein digestion and absorption","Collagen biosynthesis and modifying enzymes","Collagen chain trimerization"]	0	[]

Diseases Linked via Similar Genes

Insomnia Linked via 2 of 5 related genesCOL23A1, COL16A1 Androgenetic alopecia Linked via 1 of 5 related genesCOL23A1 Astrocytoma Linked via 1 of 5 related genesCOL23A1 Bulimia Linked via 1 of 5 related genesCOL23A1 Cardiac embolism Linked via 1 of 5 related genesCOL23A1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Insomnia	2	["COL23A1","COL16A1"]
Androgenetic alopecia	1	["COL23A1"]
Astrocytoma	1	["COL23A1"]
Bulimia	1	["COL23A1"]
Cardiac embolism	1	["COL23A1"]