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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	81578
Gene name	Collagen type XXI alpha 1 chain
Gene symbol	COL21A1
Synonyms (NCBI Gene)	COLA1LFP633
Chromosome	6
Chromosome location	6p12.1\|6p12.3-p11.2
Summary	This gene encodes the alpha chain of type XXI collagen, a member of the FACIT (fibril-associated collagens with interrupted helices) collagen family. Type XXI collagen is localized to tissues containing type I collagen and maintains the integrity of the e

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006383	hsa-miR-29c-3p	Luciferase reporter assay	21436257
MIRT006383	hsa-miR-29c-3p	Luciferase reporter assay	21436257
MIRT006383	hsa-miR-29c-3p	Luciferase reporter assay	21436257
MIRT018264	hsa-miR-335-5p	Microarray	18185580
MIRT902730	hsa-miR-1305	CLIP-seq
MIRT902731	hsa-miR-221	CLIP-seq
MIRT902732	hsa-miR-222	CLIP-seq
MIRT902733	hsa-miR-29a	CLIP-seq
MIRT902734	hsa-miR-29b	CLIP-seq
MIRT902735	hsa-miR-29c	CLIP-seq
MIRT902736	hsa-miR-3165	CLIP-seq
MIRT902737	hsa-miR-3671	CLIP-seq
MIRT902738	hsa-miR-4433	CLIP-seq
MIRT902739	hsa-miR-4459	CLIP-seq
MIRT902740	hsa-miR-4652-3p	CLIP-seq
MIRT902741	hsa-miR-4742-5p	CLIP-seq
MIRT902742	hsa-miR-4768-3p	CLIP-seq
MIRT902743	hsa-miR-4778-5p	CLIP-seq
MIRT902744	hsa-miR-4794	CLIP-seq
MIRT902745	hsa-miR-548a-3p	CLIP-seq
MIRT902746	hsa-miR-548e	CLIP-seq
MIRT902747	hsa-miR-548f	CLIP-seq
MIRT902748	hsa-miR-548v	CLIP-seq
MIRT902749	hsa-miR-587	CLIP-seq
MIRT902750	hsa-miR-607	CLIP-seq
MIRT902751	hsa-miR-885-5p	CLIP-seq
MIRT902752	hsa-miR-892b	CLIP-seq
MIRT902733	hsa-miR-29a	CLIP-seq
MIRT902734	hsa-miR-29b	CLIP-seq
MIRT902735	hsa-miR-29c	CLIP-seq
MIRT2203532	hsa-miR-4422	CLIP-seq
MIRT902740	hsa-miR-4652-3p	CLIP-seq
MIRT902743	hsa-miR-4778-5p	CLIP-seq
MIRT2203533	hsa-miR-520d-5p	CLIP-seq
MIRT2203534	hsa-miR-524-5p	CLIP-seq
MIRT2203535	hsa-miR-600	CLIP-seq
MIRT2506529	hsa-miR-1290	CLIP-seq
MIRT2506530	hsa-miR-203	CLIP-seq
MIRT2506531	hsa-miR-3065-5p	CLIP-seq
MIRT2506532	hsa-miR-3148	CLIP-seq
MIRT2506533	hsa-miR-3163	CLIP-seq
MIRT902736	hsa-miR-3165	CLIP-seq
MIRT2506534	hsa-miR-3167	CLIP-seq
MIRT2506535	hsa-miR-3646	CLIP-seq
MIRT2506536	hsa-miR-3662	CLIP-seq
MIRT2506537	hsa-miR-3688-3p	CLIP-seq
MIRT2506538	hsa-miR-3910	CLIP-seq
MIRT2506539	hsa-miR-4493	CLIP-seq
MIRT2506540	hsa-miR-4643	CLIP-seq
MIRT2506541	hsa-miR-466	CLIP-seq
MIRT2506542	hsa-miR-4694-3p	CLIP-seq
MIRT902741	hsa-miR-4742-5p	CLIP-seq
MIRT2506543	hsa-miR-4789-3p	CLIP-seq
MIRT902744	hsa-miR-4794	CLIP-seq
MIRT2506544	hsa-miR-495	CLIP-seq
MIRT2506545	hsa-miR-543	CLIP-seq
MIRT902745	hsa-miR-548a-3p	CLIP-seq
MIRT902746	hsa-miR-548e	CLIP-seq
MIRT902747	hsa-miR-548f	CLIP-seq
MIRT2506546	hsa-miR-876-5p	CLIP-seq
MIRT902752	hsa-miR-892b	CLIP-seq
MIRT902736	hsa-miR-3165	CLIP-seq
MIRT902741	hsa-miR-4742-5p	CLIP-seq
MIRT902744	hsa-miR-4794	CLIP-seq
MIRT902745	hsa-miR-548a-3p	CLIP-seq
MIRT902746	hsa-miR-548e	CLIP-seq
MIRT902747	hsa-miR-548f	CLIP-seq
MIRT902752	hsa-miR-892b	CLIP-seq

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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:0005737	Component	Cytoplasm	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005829	Component	Cytosol	IDA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	20551380, 25037231, 28675934
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28675934
GO:0031012	Component	Extracellular matrix	IBA

MIM	HGNC	e!Ensembl
610002	17025	ENSG00000124749

Q96P44

Protein name

Collagen alpha-1(XXI) chain

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00092	VWA	37 → 206	von Willebrand factor type A domain	Domain
PF01391	Collagen	446 → 501	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	482 → 558	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	527 → 597	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	671 → 743	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	730 → 790	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	824 → 884	Collagen triple helix repeat (20 copies)	Repeat

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in lymph node, jejunum, pancreas, stomach, trachea, testis, uterus and placenta; moderately expressed in brain, colon, lung, prostate, spinal cord, salivary gland and vascular smooth-muscle cells and very weakly expres

Sequence

MAHYITFLCMVLVLLLQNSVLAEDGEVRSSCRTAPTDLVFILDGSYSVGPENFEIVKKWL
VNITKNFDIGPKFIQVGVVQYSDYPVLEIPLGSYDSGEHLTAAVESILYLGGNTKTGKAI
QFALDYLFAKSSRFLTKIAVVLTDGKSQDDVKDAAQAARDSKITLFAIGVGSETEDAELR
AIANKPSSTYVFYVEDYIAISKIREVMKQKLCEESVCPTRIPVAARDERGFDILLGLDVN
KKVKKRIQLSPKKIKGYEVTSKVDLSELTSNVFPEGLPPSYVFVSTQRFKVKKIWDLWRI
LTIDGRPQIAVTLNGVDKILLFTTTSVINGSQVVTFANPQVKTLFDEGWHQIRLLVTEQD
VTLYIDDQQIENKPLHPVLGILINGQTQIGKYSGKEETVQFDVQKLRIYCDPEQNNRETA
CEIPGFNGECLNGPSDVGSTPAPCICPPGKPGLQGPKGDPGLPGNPGYPGQPGQDGKPGY
QGIAGTPGVPGSPGIQGARGLPGYKGEPGRDGDKGDRGLPGFPGLHGMPGSKGEMGAKGD
KGSPGFYGKKGAKGEKGNAGFPGLPGPAGEPGRHGKDGLMGSPGFKGEAGSPGAPGQDGT
RGEPGIPGFPGNRGLMGQKGEIGPPGQQGKKGAPGMPGLMGSNGSPGQPGTPGSKGSKGE
PGIQGMPGASGLKGEPGATGSPGEPGYMGLPGIQGKKGDKGNQGEKGIQGQKGENGRQGI
PGQQGIQGHHGAKGERGEKGEPGVRGAIGSKGESGVDGLMGPAGPKGQPGDPGPQGPPGL
DGKPGREFSEQFIRQVCTDVIRAQLPVLLQSGRIRNCDHCLSQHGSPGIPGPPGPIGPEG
PRGLPGLPGRDGVPGLVGVPGRPGVRGLKGLPGRNGEKGSQGFGYPGEQGPPGPPGPEGP
PGISKEGPPGDPGLPGKDGDHGKPGIQGQPGPPGICDPSLCFSVIARRDPFRKGPNY

Sequence length

957

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 (5)

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.
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	27936202	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	28726551	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	37451613	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27618447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	26868259, 30924295	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Other and unspecified reactive psychosis	Reactive Psychosis	GWASCAT_DG	24132900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	GWASCAT_DG	24132900		★★★★★ ★☆☆☆☆ Found in Text Mining only

COL21A1 (collagen type XXI alpha 1 chain)