CTHRC1 (collagen triple helix repeat containing 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 115908
Gene name Collagen triple helix repeat containing 1
Gene symbol CTHRC1
Synonyms (NCBI Gene)
-
Chromosome 8
Chromosome location 8q22.3
Summary 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
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
95
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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 assayqRT-PCRWestern blot 25510669
MIRT437975 hsa-let-7b-5p Luciferase reporter assayqRT-PCRWestern blot 25510669
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0001649 Process Osteoblast differentiation IEA
GO:0004666 Function Prostaglandin-endoperoxide synthase activity IBA
GO:0005109 Function Frizzled binding IEA
GO:0005201 Function Extracellular matrix structural constituent RCA 28675934
GO:0005576 Component Extracellular region HDA 27068509
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610635 18831 ENSG00000164932
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene SNPs miRNA Gene ontology Other IDs Protein 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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA Pathogenic rs387907029 RCV000023833
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (1)
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.
Phenotype Name Clinical Significance Source Evidence Score
BARRETT ESOPHAGUS — CTD, ClinVar, Disgenet, GenCC, HPO
CTD, ClinVar, Disgenet, GenCC, HPO
CTD, ClinVar, Disgenet, GenCC, HPO
CTD, ClinVar, Disgenet, GenCC, HPO
CTD, ClinVar, Disgenet, GenCC, HPO
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (115)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 21791690
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31798347
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 31545446
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 32711556 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 30336754
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 22005949, 28115279, 30336754, 31249576
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Reactive Reactive arthritis Pubtator 31249576 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 31249576 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthropathy Arthropathy BEFREE 31249576
★★★★★
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 29393342
★★★★★
★☆☆☆☆
Found in Text Mining only