MMP21 (matrix metallopeptidase 21)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 118856
Gene name Matrix metallopeptidase 21
Gene symbol MMP21
Synonyms (NCBI Gene)
HTX7MMP-21
Chromosome 10
Chromosome location 10q26.2
Summary 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.
6
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.
3
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 MicroarrayqRT-PCR 31582779
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608416 14357 ENSG00000154485
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.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Heterotaxy, visceral, 7, autosomal Likely pathogenic; Pathogenic rs145119918, rs886041273, rs1795441247, rs137955225, rs2493742377, rs1487834487, rs781127723, rs1850488424, rs773125891, rs1434829861, rs1432707846, rs747668147, rs777088158, rs145789868, rs1312300020 RCV001254033
RCV001782764
RCV003239332
RCV004543121
RCV003985984
RCV004544237
RCV004544238
RCV004544239
RCV004544241
RCV004544242
RCV004544243
RCV004544244
RCV004544245
RCV000754882
RCV000754883
MMP21-related disorder Likely pathogenic; Pathogenic rs886041273, rs2493740568, rs2493743195 RCV003409394
RCV003406106
RCV003969485
Visceral heterotaxy Likely pathogenic; Pathogenic rs145119918, rs137955225 RCV000826118
RCV000600696
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma Benign rs28381319 RCV005907204
Ovarian serous cystadenocarcinoma Benign rs28381319 RCV005907205
Thymoma Benign rs28381319 RCV005907206
Uterine corpus endometrial carcinoma Benign rs28381319 RCV005907207
Show/Hide Text Mining Associations (14)
Associations from Text MiningDisease 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