ECM1 (extracellular matrix protein 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1893
Gene name Extracellular matrix protein 1
Gene symbol ECM1
Synonyms (NCBI Gene)
URBWD
Chromosome 1
Chromosome location 1q21.2
Summary This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeosta
SNPs SNP information provided by dbSNP.
12
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (12)
SNP ID Visualize variation Clinical significance Consequence
rs121909114 C>T Pathogenic Stop gained, intron variant, coding sequence variant
rs121909115 C>T Pathogenic Stop gained, coding sequence variant
rs121909116 T>A Pathogenic Missense variant, coding sequence variant
rs746217361 C>A,T Pathogenic Synonymous variant, coding sequence variant, stop gained, intron variant
rs778473713 A>- Pathogenic Coding sequence variant, frameshift variant, intron variant
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT734173 hsa-miR-193a-5p Immunohistochemistry (IHC)Luciferase reporter assayqRT-PCRWestern blotting 32489562
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
Transcription factor Regulation Reference
TFAP2A Activation 17187826
TFAP2C Activation 17187826
TFAP2C Unknown 24023917
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001503 Process Ossification IEA
GO:0001525 Process Angiogenesis IEA
GO:0001938 Process Positive regulation of endothelial cell proliferation IDA 11292659
GO:0001960 Process Negative regulation of cytokine-mediated signaling pathway IEA
GO:0002020 Function Protease binding IPI 16512877
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602201 3153 ENSG00000143369
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16610
Protein name Extracellular matrix protein 1 (Secretory component p85)
Protein function Involved in endochondral bone formation as negative regulator of bone mineralization. Stimulates the proliferation of endothelial cells and promotes angiogenesis. Inhibits MMP9 proteolytic activity. {ECO:0000269|PubMed:11165938, ECO:0000269|PubM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05782 ECM1 1 → 540 Extracellular matrix protein 1 (ECM1) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in breast cancer tissues. Little or no expression observed in normal breast tissues. Expressed in skin; wide expression is observed throughout the dermis with minimal expression in the epidermis. {ECO:0000269|PubMed:11292659,
Sequence
Sequence length 540
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Platelet degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways 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 (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ECM1-related disorder Likely pathogenic; Pathogenic rs768474010, rs869025565, rs2526403709 RCV003393982
RCV003401118
RCV003400146
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipid proteinosis Likely pathogenic; Pathogenic rs768474010, rs756977475, rs2101440353, rs2101440055, rs867426247, rs766844065, rs869025564, rs869025565, rs778473713, rs121909114, rs121909115, rs121909116, rs1560265435, rs762669789, rs2526412851
View all (2 more)		 RCV001780259
RCV001554299
RCV002052273
RCV002250900
RCV002464973
View all (12 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (12)
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
Acute myeloid leukemia Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (116)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acne Acne HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 22031286
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaphylaxis Anaphylaxis Pubtator 24708644 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 31217868
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 40008516 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 37809092 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 27671756
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 30863109
★★★★★
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone disease Pubtator 38574990 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bone Diseases Metabolic Bone disease Pubtator 38574990 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only