MMP21 (matrix metallopeptidase 21)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
118856
Gene name Gene Name - the full gene name approved by the HGNC.
Matrix metallopeptidase 21
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MMP21
Synonyms (NCBI Gene) Gene synonyms aliases
HTX7, MMP-21
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q26.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the matrix metalloproteinase family. Proteins in this family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, a
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs137955225 C>T Likely-pathogenic Stop gained, coding sequence variant
rs145119918 G>A,C Pathogenic, likely-pathogenic Stop gained, missense variant, coding sequence variant
rs145789868 C>T Pathogenic Coding sequence variant, missense variant
rs886041273 ->G Pathogenic Coding sequence variant, frameshift variant
rs948481222 A>C Likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT733695 hsa-miR-4484 qRT-PCR 31582779
MIRT733695 hsa-miR-4484 qRT-PCR 31582779
MIRT733695 hsa-miR-4484 Microarray, qRT-PCR 31582779
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0002244 Process Hematopoietic progenitor cell differentiation IEA
GO:0004222 Function Metalloendopeptidase activity IBA
GO:0004222 Function Metalloendopeptidase activity IEA
GO:0005576 Component Extracellular region IEA
GO:0006508 Process Proteolysis IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608416 14357 ENSG00000154485
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8N119
Protein name Matrix metalloproteinase-21 (MMP-21) (EC 3.4.24.-)
Protein function Plays a specialized role in the generation of left-right asymmetry during embryogenesis. May act as a negative regulator of the NOTCH-signaling pathway (PubMed:26429889, PubMed:26437028). Cleaves alpha-1-antitrypsin (PubMed:12617721). {ECO:00002
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01471 PG_binding_1 46 → 112 Putative peptidoglycan binding domain Domain
PF00413 Peptidase_M10 170 → 327 Matrixin Domain
PF00045 Hemopexin 353 → 391 Hemopexin Repeat
PF00045 Hemopexin 400 → 449 Hemopexin Repeat
PF00045 Hemopexin 451 → 496 Hemopexin Repeat
Tissue specificity TISSUE SPECIFICITY: Identified in fetal brain, kidney and liver. In adult tissues found primarily in ovary, kidney, liver, lung, placenta, brain and peripheral blood leukocytes. Expressed as well in various cancer cell lines. {ECO:0000269|PubMed:12490321,
Sequence
Sequence length 569
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Heterotaxy, Visceral heterotaxy, visceral, 7, autosomal rs137955225, rs145789868, rs1312300020, rs145119918, rs886041273 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Situs Inversus situs inversus N/A N/A GenCC
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 15015597
Carcinogenesis Associate 16641547
Carcinoma Associate 16641547
Chromosome 10q26 Deletion Syndrome Associate 39976347
Cognition Disorders Associate 39976347
Esophageal Squamous Cell Carcinoma Associate 16641547, 36437782
Fetal Growth Retardation Associate 39976347
Heart Defects Congenital Associate 39976347
Heart Septal Defects Ventricular Associate 39976347
Inflammation Stimulate 16641547