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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	115908
Gene name Gene Name - the full gene name approved by the HGNC.	Collagen triple helix repeat containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CTHRC1
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q22.3
Summary Summary of gene provided in NCBI Entrez Gene.	This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spli

Show/Hide all(1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907029	A>C	Pathogenic	Coding sequence variant, missense variant, upstream transcript variant, genic upstream transcript variant

Show/Hide all(95)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018001	hsa-miR-335-5p	Microarray	18185580
MIRT019329	hsa-miR-148b-3p	Microarray	17612493
MIRT022682	hsa-miR-124-3p	Microarray	18668037
MIRT437975	hsa-let-7b-5p	Luciferase reporter assay, qRT-PCR, Western blot	25510669
MIRT437975	hsa-let-7b-5p	Luciferase reporter assay, qRT-PCR, Western blot	25510669
MIRT437975	hsa-let-7b-5p	Luciferase reporter assay, qRT-PCR, Western blot	25510669
MIRT437975	hsa-let-7b-5p	Luciferase reporter assay, qRT-PCR, Western blot	25510669
MIRT485660	hsa-miR-548l	PAR-CLIP	20371350
MIRT485659	hsa-miR-630	PAR-CLIP	20371350
MIRT485660	hsa-miR-548l	PAR-CLIP	22012620
MIRT529893	hsa-miR-3185	PAR-CLIP	22012620
MIRT485659	hsa-miR-630	PAR-CLIP	22012620
MIRT485660	hsa-miR-548l	PAR-CLIP	23446348
MIRT485659	hsa-miR-630	PAR-CLIP	23446348
MIRT485660	hsa-miR-548l	PAR-CLIP	23592263
MIRT485659	hsa-miR-630	PAR-CLIP	23592263
MIRT485660	hsa-miR-548l	PAR-CLIP	23592263
MIRT485659	hsa-miR-630	PAR-CLIP	23592263
MIRT485660	hsa-miR-548l	PAR-CLIP	26701625
MIRT485660	hsa-miR-548l	PAR-CLIP	26701625
MIRT485660	hsa-miR-548l	PAR-CLIP	26701625
MIRT485660	hsa-miR-548l	PAR-CLIP	26701625
MIRT485660	hsa-miR-548l	PAR-CLIP	26701625
MIRT485659	hsa-miR-630	PAR-CLIP	26701625
MIRT485659	hsa-miR-630	PAR-CLIP	26701625
MIRT485659	hsa-miR-630	PAR-CLIP	26701625
MIRT485659	hsa-miR-630	PAR-CLIP	26701625
MIRT485659	hsa-miR-630	PAR-CLIP	26701625
MIRT529893	hsa-miR-3185	PAR-CLIP	27292025
MIRT529893	hsa-miR-3185	PAR-CLIP	27292025
MIRT529893	hsa-miR-3185	PAR-CLIP	27292025
MIRT485660	hsa-miR-548l	PAR-CLIP	27292025
MIRT485660	hsa-miR-548l	PAR-CLIP	27292025
MIRT485660	hsa-miR-548l	PAR-CLIP	27292025
MIRT485660	hsa-miR-548l	PAR-CLIP	27292025
MIRT485660	hsa-miR-548l	PAR-CLIP	27292025
MIRT485660	hsa-miR-548l	PAR-CLIP	27292025
MIRT485660	hsa-miR-548l	PAR-CLIP	27292025
MIRT485659	hsa-miR-630	PAR-CLIP	27292025
MIRT485659	hsa-miR-630	PAR-CLIP	27292025
MIRT485659	hsa-miR-630	PAR-CLIP	27292025
MIRT485659	hsa-miR-630	PAR-CLIP	27292025
MIRT485659	hsa-miR-630	PAR-CLIP	27292025
MIRT485659	hsa-miR-630	PAR-CLIP	27292025
MIRT485659	hsa-miR-630	PAR-CLIP	27292025
MIRT485660	hsa-miR-548l	PAR-CLIP	20371350
MIRT485659	hsa-miR-630	PAR-CLIP	20371350
MIRT485660	hsa-miR-548l	PAR-CLIP	22012620
MIRT529893	hsa-miR-3185	PAR-CLIP	22012620
MIRT485659	hsa-miR-630	PAR-CLIP	22012620
MIRT485660	hsa-miR-548l	PAR-CLIP	23446348
MIRT485659	hsa-miR-630	PAR-CLIP	23446348
MIRT485660	hsa-miR-548l	PAR-CLIP	23592263
MIRT485659	hsa-miR-630	PAR-CLIP	23592263
MIRT485660	hsa-miR-548l	PAR-CLIP	23592263
MIRT485659	hsa-miR-630	PAR-CLIP	23592263
MIRT437975	hsa-let-7b-5p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunofluorescence	34950211
MIRT914738	hsa-miR-133a	CLIP-seq
MIRT914739	hsa-miR-133b	CLIP-seq
MIRT914740	hsa-miR-30a	CLIP-seq
MIRT914741	hsa-miR-30b	CLIP-seq
MIRT914742	hsa-miR-30c	CLIP-seq
MIRT914743	hsa-miR-30d	CLIP-seq
MIRT914744	hsa-miR-30e	CLIP-seq
MIRT914745	hsa-miR-3607-3p	CLIP-seq
MIRT914746	hsa-miR-3686	CLIP-seq
MIRT914747	hsa-miR-4527	CLIP-seq
MIRT914748	hsa-miR-9	CLIP-seq
MIRT1547670	hsa-miR-1245b-3p	CLIP-seq
MIRT1547671	hsa-miR-1298	CLIP-seq
MIRT914738	hsa-miR-133a	CLIP-seq
MIRT914739	hsa-miR-133b	CLIP-seq
MIRT914740	hsa-miR-30a	CLIP-seq
MIRT914741	hsa-miR-30b	CLIP-seq
MIRT914742	hsa-miR-30c	CLIP-seq
MIRT914743	hsa-miR-30d	CLIP-seq
MIRT914744	hsa-miR-30e	CLIP-seq
MIRT1547672	hsa-miR-3140-3p	CLIP-seq
MIRT1547673	hsa-miR-3171	CLIP-seq
MIRT914745	hsa-miR-3607-3p	CLIP-seq
MIRT914746	hsa-miR-3686	CLIP-seq
MIRT1547674	hsa-miR-3942-3p	CLIP-seq
MIRT914747	hsa-miR-4527	CLIP-seq
MIRT914748	hsa-miR-9	CLIP-seq
MIRT914738	hsa-miR-133a	CLIP-seq
MIRT914739	hsa-miR-133b	CLIP-seq
MIRT914740	hsa-miR-30a	CLIP-seq
MIRT914741	hsa-miR-30b	CLIP-seq
MIRT914742	hsa-miR-30c	CLIP-seq
MIRT914743	hsa-miR-30d	CLIP-seq
MIRT914744	hsa-miR-30e	CLIP-seq
MIRT914745	hsa-miR-3607-3p	CLIP-seq
MIRT914746	hsa-miR-3686	CLIP-seq
MIRT914747	hsa-miR-4527	CLIP-seq
MIRT914748	hsa-miR-9	CLIP-seq

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005109	Function	Frizzled binding	IEA
GO:0005201	Function	Extracellular matrix structural constituent	RCA	28675934
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005581	Component	Collagen trimer	IEA
GO:0005615	Component	Extracellular space	IDA	18467647
GO:0005737	Component	Cytoplasm	IEA
GO:0016477	Process	Cell migration	IEA
GO:0017147	Function	Wnt-protein binding	IEA
GO:0032092	Process	Positive regulation of protein binding	IEA
GO:0033690	Process	Positive regulation of osteoblast proliferation	IEA
GO:0043932	Process	Ossification involved in bone remodeling	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	IEA
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	28675934
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090103	Process	Cochlea morphogenesis	IEA
GO:0090177	Process	Establishment of planar polarity involved in neural tube closure	IEA

MIM	HGNC	e!Ensembl
610635	18831	ENSG00000164932

Protein

UniProt ID

Q96CG8

Protein name

Collagen triple helix repeat-containing protein 1

Protein function

May act as a negative regulator of collagen matrix deposition.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01391	Collagen	53 → 94	Collagen triple helix repeat (20 copies)	Repeat

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 is expressed in calcified atherosclerotic plaque and chondrocyte-like cells. {ECO:0000269|PubMed:15618538}.

Sequence

MRPQGPAASPQRLRGLLLLLLLQLPAPSSASEIPKGKQKAQLRQREVVDLYNGMCLQGPA
GVPGRDGSPGANGIPGTPGIPGRDGFKGEKGECLRESFEESWTPNYKQCSWSSLNYGIDL
GKIAECTFTKMRSNSALRVLFSGSLRLKCRNACCQRWYFTFNGAECSGPLPIEAIIYLDQ
GSPEMNSTINIHRTSSVEGLCEGIGAGLVDVAIWVGTCSDYPKGDASTGWNSVSRIIIEE
LPK

Sequence length

243

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Esophageal carcinoma	Esophageal carcinoma	rs121912967

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Barrett esophagus	Barrett Esophagus, NON RARE IN EUROPE: Barrett esophagus			ClinVar

Show/Hide Text Mining Associations (59)

Disease Name	Relationship Type	References
Associations from Text Mining
Acidemia isovaleric	Associate	27718266
Adenocarcinoma	Associate	21791690, 31545446
Adenocarcinoma of Lung	Stimulate	34615943, 35313900
Adenocarcinoma of Lung	Associate	37205792, 37287976
Alzheimer Disease	Associate	32711556
Arthritis Reactive	Stimulate	31249576
Arthritis Rheumatoid	Stimulate	31249576
Barrett Esophagus	Associate	21791690
Breast Neoplasms	Associate	23658133, 28697793, 32432749
Carcinogenesis	Associate	22590977, 26722469, 28277194, 31855733, 34615943
Carcinoma Ductal	Associate	23658133
Carcinoma Ductal Breast	Associate	23658133
Carcinoma Hepatocellular	Stimulate	23922981, 24841500, 34615943
Carcinoma Hepatocellular	Associate	37889061
Carcinoma Non Small Cell Lung	Associate	25139095
Carcinoma Non Small Cell Lung	Stimulate	25238260, 29631554
Carcinoma Renal Cell	Stimulate	28281968, 34615943
Carcinoma Renal Cell	Associate	33804101
Carcinoma Squamous Cell	Associate	24299561
Cell Transformation Neoplastic	Associate	33800494
Colonic Neoplasms	Associate	31612481
Colonic Neoplasms	Stimulate	35307012
Colorectal Neoplasms	Associate	24189147, 26722469, 32323816, 35991839
Colorectal Neoplasms	Stimulate	24504172, 30302922
COVID 19	Stimulate	36375315
Diabetes Mellitus	Associate	31615341
Disease	Associate	31249576
Endometrial Neoplasms	Stimulate	34615943
Esophageal Neoplasms	Associate	26631031
Fibrosis	Associate	32102754, 36690273
Gastrointestinal Stromal Tumors	Associate	24726140
Glioblastoma	Stimulate	28277194
Glioblastoma	Associate	35456975
Hereditary Breast and Ovarian Cancer Syndrome	Associate	17389037
Hypertension	Stimulate	39196693
Leukemic Infiltration	Associate	33753712
Liver Cirrhosis	Associate	36690273
Lymphatic Metastasis	Stimulate	25139095, 25238260, 26664254
Malignant mesenchymal tumor	Inhibit	28277194
Melanoma	Associate	33593721
Mesothelioma Malignant	Associate	33800494
Neoplasm Metastasis	Associate	22590977, 23703614, 23922981, 24726140, 25238260, 28697793, 28854193, 29631554, 30628714, 31855733
Neoplasm Metastasis	Stimulate	28303973
Neoplasms	Stimulate	22590977, 23922981, 26664254, 26722469, 29631554, 34968391
Neoplasms	Associate	23703614, 24189147, 24299561, 24504172, 25139095, 25238260, 26631031, 28277194, 28281968, 28427201, 28697793, 30302922, 31545446, 31855733, 32102754 View all (6 more)
Osteoporosis	Associate	36882843
Ovarian Neoplasms	Associate	32156314
Periodontitis	Associate	37889061
Prostatic Neoplasms	Associate	31545446
Prostatic Neoplasms	Stimulate	32102754
Sarcoma Ewing	Associate	24005033
Squamous Cell Carcinoma of Head and Neck	Associate	23703614
Squamous Cell Carcinoma of Head and Neck	Stimulate	26664254, 34615943
Stomach Neoplasms	Associate	22590977, 30106143, 31855733, 34968391, 35328635
Stomach Neoplasms	Stimulate	34615943
Urinary Bladder Neoplasms	Stimulate	31894276
Urinary Bladder Neoplasms	Associate	33753712, 35450397
Uterine Cervical Neoplasms	Associate	28303973, 30628714
Virus Diseases	Associate	27718266

CTHRC1 (collagen triple helix repeat containing 1)