Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs6988229	C>T	Drug-response	Genic upstream transcript variant, intron variant

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

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GO ID	Ontology	Definition	Evidence
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

MIM	HGNC	e!Ensembl
610026	22989	ENSG00000169436

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

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

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)

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANXIETY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACRANIAL ANEURYSM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DEGENERATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DETACHMENT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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

COL22A1 (collagen type XXII alpha 1 chain)