Gene Gene information from NCBI Gene database.
Entrez ID 4239
Gene name Microfibril associated protein 4
Gene symbol MFAP4
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17p11.2
Summary This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or int
miRNA miRNA information provided by mirtarbase database.
264
miRTarBase ID miRNA Experiments Reference
MIRT022137 hsa-miR-124-3p Microarray 18668037
MIRT1146009 hsa-miR-1587 CLIP-seq
MIRT1146010 hsa-miR-378g CLIP-seq
MIRT1146011 hsa-miR-4492 CLIP-seq
MIRT1146012 hsa-miR-4498 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0001527 Component Microfibril IDA 22355679
GO:0001527 Component Microfibril NAS 7633408
GO:0005201 Function Extracellular matrix structural constituent RCA 20551380, 25037231, 28675934
GO:0005515 Function Protein binding IPI 22355679, 26601954
GO:0005576 Component Extracellular region HDA 27068509
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600596 7035 ENSG00000166482
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P55083
Protein name Microfibril-associated glycoprotein 4
Protein function Could be involved in calcium-dependent cell adhesion or intercellular interactions. May contribute to the elastic fiber assembly and/or maintenance (PubMed:26601954).
PDB 7ZMK , 8UN7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00147 Fibrinogen_C 37 255 Fibrinogen beta and gamma chains, C-terminal globular domain Domain
Sequence
Sequence length 255
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Molecules associated with elastic fibres
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 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
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
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
Aneurysm Aneurysm Pubtator 31315432 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 31784280 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 22226179, 31784280
★☆☆☆☆
Found in Text Mining only
Aortic Dissection Aortic dissection Pubtator 31315432 Stimulate
★☆☆☆☆
Found in Text Mining only
Arthropathy Arthropathy BEFREE 31233243
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 31110528
★☆☆☆☆
Found in Text Mining only
Brachycephaly Brachycephaly BEFREE 17539903
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 30089404
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 38235137 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 40410886 Associate
★☆☆☆☆
Found in Text Mining only