Gene Gene information from NCBI Gene database.
Entrez ID 1805
Gene name Dermatopontin
Gene symbol DPT
Synonyms (NCBI Gene)
TRAMP
Chromosome 1
Chromosome location 1q24.2
Summary Dermatopontin is an extracellular matrix protein with possible functions in cell-matrix interactions and matrix assembly. The protein is found in various tissues and many of its tyrosine residues are sulphated. Dermatopontin is postulated to modify the be
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs748718975 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
127
miRTarBase ID miRNA Experiments Reference
MIRT019412 hsa-miR-148b-3p Microarray 17612493
MIRT944407 hsa-miR-1184 CLIP-seq
MIRT944408 hsa-miR-1205 CLIP-seq
MIRT944409 hsa-miR-1298 CLIP-seq
MIRT944410 hsa-miR-1909 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0005201 Function Extracellular matrix structural constituent ISS
GO:0005201 Function Extracellular matrix structural constituent RCA 20551380, 25037231, 27068509, 27559042, 28675934
GO:0005515 Function Protein binding IPI 30082873
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space HDA 20551380
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
125597 3011 ENSG00000143196
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q07507
Protein name Dermatopontin (Tyrosine-rich acidic matrix protein) (TRAMP)
Protein function Seems to mediate adhesion by cell surface integrin binding. May serve as a communication link between the dermal fibroblast cell surface and its extracellular matrix environment. Enhances TGFB1 activity. Inhibits cell proliferation. Accelerates
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14704 DERM 40 196 Dermatopontin Family
Tissue specificity TISSUE SPECIFICITY: Expressed in fibroblasts, heart, skeletal muscle, brain and pancreas. Expressed at an intermediate level in lung and kidney, and at a low level in liver and placenta. Expressed at a lower level in fibroblasts from hypertrophic scar les
Sequence
Sequence length 201
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Progressive sensorineural hearing impairment Pathogenic rs748718975 RCV000416574
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
RESTLESS LEGS SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VARICOSE VEINS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VARICOSITY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 17638871, 19701244, 27634876, 30188869
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 23842593, 27980106, 28095711
★☆☆☆☆
Found in Text Mining only
Anhedonia Anhedonia BEFREE 28983260
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 23593175 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 14679100
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 26357040
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 35819135, 36774339, 39379897 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 39379897 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 16452231, 28197388
★☆☆☆☆
Found in Text Mining only
Carcinoma, Neuroendocrine Carcinoma BEFREE 25298407
★☆☆☆☆
Found in Text Mining only