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	255631
Gene name	Collagen type XXIV alpha 1 chain
Gene symbol	COL24A1
Synonyms (NCBI Gene)	-
Chromosome	1
Chromosome location	1p22.3
Summary	This gene is a member of the collagen gene family and is thought to regulate type I collagen fibrillogenesis during fetal development. [provided by RefSeq, Mar 2017]

Show/Hide all (46)

miRTarBase ID	miRNA	Experiments	Reference
MIRT732868	hsa-miR-196a-5p	Luciferase reporter assayqRT-PCRWestern blotting	33469841
MIRT902761	hsa-miR-28-3p	CLIP-seq
MIRT902762	hsa-miR-4662a-5p	CLIP-seq
MIRT902763	hsa-miR-4666-5p	CLIP-seq
MIRT902764	hsa-miR-556-3p	CLIP-seq
MIRT902765	hsa-miR-576-3p	CLIP-seq
MIRT902766	hsa-miR-586	CLIP-seq
MIRT1967720	hsa-miR-3129-3p	CLIP-seq
MIRT1967721	hsa-miR-3545-3p	CLIP-seq
MIRT1967722	hsa-miR-3617	CLIP-seq
MIRT1967723	hsa-miR-4764-5p	CLIP-seq
MIRT1967724	hsa-miR-4782-5p	CLIP-seq
MIRT1967725	hsa-miR-548u	CLIP-seq
MIRT1967726	hsa-miR-641	CLIP-seq
MIRT2203543	hsa-miR-3140-5p	CLIP-seq
MIRT2203544	hsa-miR-3144-5p	CLIP-seq
MIRT2203545	hsa-miR-3649	CLIP-seq
MIRT2203546	hsa-miR-374a	CLIP-seq
MIRT2203547	hsa-miR-374b	CLIP-seq
MIRT2203548	hsa-miR-4427	CLIP-seq
MIRT2203549	hsa-miR-4641	CLIP-seq
MIRT902763	hsa-miR-4666-5p	CLIP-seq
MIRT2203550	hsa-miR-492	CLIP-seq
MIRT2203551	hsa-miR-520d-5p	CLIP-seq
MIRT2203552	hsa-miR-524-5p	CLIP-seq
MIRT2203553	hsa-miR-542-5p	CLIP-seq
MIRT2203554	hsa-miR-548a-3p	CLIP-seq
MIRT2203555	hsa-miR-548e	CLIP-seq
MIRT2203556	hsa-miR-548f	CLIP-seq
MIRT902764	hsa-miR-556-3p	CLIP-seq
MIRT902766	hsa-miR-586	CLIP-seq
MIRT2203543	hsa-miR-3140-5p	CLIP-seq
MIRT2203544	hsa-miR-3144-5p	CLIP-seq
MIRT2203545	hsa-miR-3649	CLIP-seq
MIRT2203548	hsa-miR-4427	CLIP-seq
MIRT2203549	hsa-miR-4641	CLIP-seq
MIRT2203550	hsa-miR-492	CLIP-seq
MIRT2203553	hsa-miR-542-5p	CLIP-seq
MIRT2678405	hsa-miR-3119	CLIP-seq
MIRT2203543	hsa-miR-3140-5p	CLIP-seq
MIRT2203544	hsa-miR-3144-5p	CLIP-seq
MIRT2203545	hsa-miR-3649	CLIP-seq
MIRT2203548	hsa-miR-4427	CLIP-seq
MIRT2203549	hsa-miR-4641	CLIP-seq
MIRT2203550	hsa-miR-492	CLIP-seq
MIRT2203553	hsa-miR-542-5p	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
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:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	25037231, 28675934
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28675934

MIM	HGNC	e!Ensembl
610025	20821	ENSG00000171502

Q17RW2

Protein name

Collagen alpha-1(XXIV) chain

Protein function

May participate in regulating type I collagen fibrillogenesis at specific anatomical locations during fetal development.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01391	Collagen	487 → 547	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	542 → 603	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	590 → 659	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	733 → 799	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	753 → 818	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	787 → 857	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	804 → 874	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	841 → 919	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1083 → 1159	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1137 → 1199	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1197 → 1260	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1240 → 1313	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1420 → 1482	Collagen triple helix repeat (20 copies)	Repeat
PF01410	COLFI	1513 → 1597	Fibrillar collagen C-terminal domain	Family
PF01410	COLFI	1593 → 1713	Fibrillar collagen C-terminal domain	Family

Sequence

MHLRAHRTRRGKVSPTAKTKSLLHFIVLCVAGVVVHAQEQGIDILHQLGLGGKDVRHSSP
ATAVPSASTPLPQGVHLTESGVIFKNDAYIETPFVKILPVNLGQPFTILTGLQSHRVNNA
FLFSIRNKNRLQLGVQLLPKKLVVHIRGKQPAVFNYSVHDEQWHSFAITIRNQSVSMFVE
CGKKYFSTETIPEVQTFDSNSVFTLGSMNNNSIHFEGIVCQLDIIPSAEASADYCRYVKQ
QCRQADKYQPETSIPCTTLIPTKIPEHSPPPKLFAEKVLSEDTFTEGKSIPNIIKNDSET
VYKRQEHQISRSQLSSLQSGNVSAVDLTNHGIQAKEMITEEDTQTNFSLSVTTHRISEAK
MNTKEKFSSLLNMSDNITQHDDRVTGLSLFKKMPSILPQIKQDTITNLKKAITANLHTNE
LMEMQPILNTSLHRVTNEPSVDNHLDLRKEGEFYPDATYPIENSYETELYDYYYYEDLNT
MLEMEYLRGPKGDTGPPGPPGPAGIPGPSGKRGPRGIPGPHGNPGLPGLPGPKGPKGDPG
FSPGQPVPGEKGDQGLSGLMGPPGMQGDKGLKGHPGLPGLPGEQGIPGFAGNIGSPGYPG
RQGLAGPEGNPGPKGAQGFIGSPGEAGQLGPEGERGIPGIRGKKGFKGRQGFPGDFGDRG
PAGLDGSPGLVGGTGPPGFPGLRGSVGPVGPIGPAGIPGPMGLSGNKGLPGIKGDKGEQG
TAGELGEPGYPGDKGAVGLPGPPGMRGKSGPSGQTGDPGLQGPSGPPGPEGFPGDIGIPG
QNGPEGPKGLLGNRGPPGPPGLKGTQGEEGPIGAFGELGPRGKPGQKGYAGEPGPEGLKG
EVGDQGNIGKIGETGPVGLPGEVGMTGSIGEKGERGSPGPLGPQGEKGVMGYPGPPGVPG
PIGPLGLPGHVGARGPPGSQGPKGQRGSRGPDGLLGEQGIQGAKGEKGDQGKRGPHGLIG
KTGNPGERGFQGKPGLQGLPGSTGDRGLPGEPGLRGLQGDVGPPGEMGMEGPPGTEGESG
LQGEPGAKGDVGTAGSVGGTGEPGLRGEPGAPGEEGLQGKDGLKGVPGGRGLPGEDGEKG
EMGLPGIIGPLGRSGQTGLPGPEGIVGIPGQRGRPGKKGDKGQIGPTGEVGSRGPPGKIG
KSGPKGARGTRGAVGHLGLMGPDGEPGIPGYRGHQGQPGPSGLPGPKGEKGYPGEDSTVL
GPPGPRGEPGPVGDQGERGEPGAEGYKGHVGVPGLRGATGQQGPPGEPGDQGEQGLKGER
GSEGNKGKKGAPGPSGKPGIPGLQGLLGPKGIQGYHGADGISGNPGKIGPPGKQGLPGIR
GGPGRTGLAGAPGPPGVKGSSGLPGSPGIQGPKGEQGLPGQPGIQGKRGHRGAQGDQGPC
GDPGLKGQPGEYGVQGLTGFQGFPGPKGPEGDAGIVGISGPKGPIGHRGNTGPLGREGII
GPTGRTGPRGEKGFRGETGPQGPRGQPGPPGPPGAPGPRKQMDINAAIQALIESNTALQM
ESYQNTEVTLIDHSEEIFKTLNYLSNLLHSIKNPLGTRDNPARICKDLLNCEQKVSDGKY
WIDPNLGCPSDAIEVFCNFSAGGQTCLPPVSVTKLEFGVGKVQMNFLHLLSSEATHIITI
HCLNTPRWTSTQTSGPGLPIGFKGWNGQIFKVNTLLEPKVLSDDCKIQDGSWHKATFLFH
TQEPNQLPVIEVQKLPHLKTERKYYIDSSSVCFL

Sequence length

1714

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells Protein digestion and absorption		Collagen biosynthesis and modifying enzymes Assembly of collagen fibrils and other multimeric structures MET activates PTK2 signaling 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 (13)

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.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ANEURYSM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Obesity	Obesity	Pubtator	28598419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	28402931	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

COL24A1 (collagen type XXIV alpha 1 chain)