COL24A1 (collagen type XXIV alpha 1 chain)

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

Gene

• 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]

miRNA Show/Hide all (46)

miRTarBase ID	miRNA	Experiments	Reference
MIRT732868	hsa-miR-196a-5p	Luciferase reporter assay, qRT-PCR, Western 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

Gene ontology (GO) 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

Other IDs

• MIM: 610025
• HGNC: 20821
• e!Ensembl: ENSG00000171502

Protein

• UniProt ID: 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	1197 → 1260	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	753 → 818	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1137 → 1199	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1420 → 1482	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	590 → 659	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	787 → 857	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	542 → 603	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	487 → 547	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	733 → 799	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1083 → 1159	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	1240 → 1313	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

Pathways

KEGG Pathway	Reactome Pathway
Cytoskeleton in muscle cells	Collagen biosynthesis and modifying enzymes
Protein digestion and absorption	Assembly of collagen fibrils and other multimeric structures
	MET activates PTK2 signaling
	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 (13)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	30573740	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DISEASE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ANEURYSM	—	GWAS catalog	27171184	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	39046104	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR HYPERTENSION	—	GWAS catalog	36222912	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	37386247	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

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

Related Genes

Sort by: Blended Diseases Pathways Evidence source

COL27A1 1 shared diseaseTourette syndrome 6 shared pathwaysCytoskeleton in muscle cells, Protein digestion and absorption, MET activates PTK2 signaling, Collagen biosynthesis and modifying enzymes, Assembly of collagen fibrils and other multimeric structures, Collagen chain trimerization Related via 6 shared pathways including Cytoskeleton in muscle cells, Protein digestion and absorption. GDPD5 2 shared diseasesCorneal dystrophy, Eye disease 2 shared evidence sourcesGWAS catalog (Corneal dystrophy), GWAS catalog (Eye disease) Related via 2 shared diseases including Corneal dystrophy, Eye disease — evidence mostly GWAS catalog. COL5A1 3 shared diseasesCorneal disease, Corneal dystrophy, Eye disease 6 shared pathwaysCytoskeleton in muscle cells, Protein digestion and absorption, MET activates PTK2 signaling, Collagen biosynthesis and modifying enzymes, Assembly of collagen fibrils and other multimeric structures, Collagen chain trimerization 3 shared evidence sourcesGWAS catalog (Corneal disease), GWAS catalog (Corneal dystrophy), GWAS catalog (Eye disease) Related via 6 shared pathways including Cytoskeleton in muscle cells, Protein digestion and absorption — evidence mostly GWAS catalog. COL11A1 1 shared diseaseGlaucoma 6 shared pathwaysCytoskeleton in muscle cells, Protein digestion and absorption, MET activates PTK2 signaling, Collagen biosynthesis and modifying enzymes, Assembly of collagen fibrils and other multimeric structures, Collagen chain trimerization 1 shared evidence sourceGWAS catalog (Glaucoma) Related via 6 shared pathways including Cytoskeleton in muscle cells, Protein digestion and absorption — evidence mostly GWAS catalog. COL11A2 6 shared pathwaysCytoskeleton in muscle cells, Protein digestion and absorption, MET activates PTK2 signaling, Collagen biosynthesis and modifying enzymes, Assembly of collagen fibrils and other multimeric structures, Collagen chain trimerization Related via 6 shared pathways including Cytoskeleton in muscle cells, Protein digestion and absorption.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
COL27A1	1	["Tourette syndrome"]	6	["Cytoskeleton in muscle cells","Protein digestion and absorption","MET activates PTK2 signaling","Collagen biosynthesis and modifying enzymes","Assembly of collagen fibrils and other multimeric structures","Collagen chain trimerization"]	0	[]
GDPD5	2	["Corneal dystrophy","Eye disease"]	0	[]	2	["GWAS catalog (Corneal dystrophy)","GWAS catalog (Eye disease)"]
COL5A1	3	["Corneal disease","Corneal dystrophy","Eye disease"]	6	["Cytoskeleton in muscle cells","Protein digestion and absorption","MET activates PTK2 signaling","Collagen biosynthesis and modifying enzymes","Assembly of collagen fibrils and other multimeric structures","Collagen chain trimerization"]	3	["GWAS catalog (Corneal disease)","GWAS catalog (Corneal dystrophy)","GWAS catalog (Eye disease)"]
COL11A1	1	["Glaucoma"]	6	["Cytoskeleton in muscle cells","Protein digestion and absorption","MET activates PTK2 signaling","Collagen biosynthesis and modifying enzymes","Assembly of collagen fibrils and other multimeric structures","Collagen chain trimerization"]	1	["GWAS catalog (Glaucoma)"]
COL11A2	0	[]	6	["Cytoskeleton in muscle cells","Protein digestion and absorption","MET activates PTK2 signaling","Collagen biosynthesis and modifying enzymes","Assembly of collagen fibrils and other multimeric structures","Collagen chain trimerization"]	0	[]

Diseases Linked via Similar Genes

Desbuquois syndrome Linked via 3 of 5 related genesCOL27A1, COL11A1, COL11A2 Osteoarthritis Linked via 3 of 5 related genesCOL27A1, COL11A1, COL11A2 Connective tissue disease Linked via 3 of 5 related genesCOL5A1, COL11A1, COL11A2 Diabetes mellitus type 2 Linked via 2 of 5 related genesCOL27A1, COL11A1 Colorectal cancer Linked via 2 of 5 related genesGDPD5, COL5A1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Desbuquois syndrome	3	["COL27A1","COL11A1","COL11A2"]
Osteoarthritis	3	["COL27A1","COL11A1","COL11A2"]
Connective tissue disease	3	["COL5A1","COL11A1","COL11A2"]
Diabetes mellitus type 2	2	["COL27A1","COL11A1"]
Colorectal cancer	2	["GDPD5","COL5A1"]