MMP23A

matrix metallopeptidase 23A (pseudogene), the group of M10 matrix metallopeptidases|Immunoglobulin like domain containing

Basic information

Region (hg38): 1:1699942-1701782

Previous symbols: [ "MMP21" ]

Links

ENSG00000215914

∙ NCBI:8511 ∙ OMIM:603320 ∙ HGNC:7170 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MMP23A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MMP23A gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Protease. May regulate the surface expression of some potassium channels by retaining them in the endoplasmic reticulum (By similarity). {ECO:0000250}.;
Pathway: Matrix Metalloproteinases (Consensus)

Recessive Scores

pRec: 0.162

Intolerance Scores

loftool
rvis_EVS: -0.2
rvis_percentile_EVS: 38.98

Haploinsufficiency Scores

pHI: 0.0934
hipred: N
hipred_score: 0.272
ghis

Mouse Genome Informatics

Gene name: Mmp21
Phenotype: craniofacial phenotype; growth/size/body region phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); digestive/alimentary phenotype; skeleton phenotype; liver/biliary system phenotype; respiratory system phenotype;

Gene ontology

Biological process: reproduction;proteolysis;extracellular matrix organization;collagen catabolic process
Cellular component: extracellular space;endoplasmic reticulum membrane;integral component of membrane;extracellular matrix;collagen-containing extracellular matrix
Molecular function: metalloendopeptidase activity;metallopeptidase activity;zinc ion binding