MMP27

protein-coding

matrix metallopeptidase 27, the group of M10 matrix metallopeptidases

Gene summary

Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. [provided by RefSeq, Jul 2008]

MANE transcript

NM_022122.3

Inheritance

—

ClinVar variants

U:97B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.25

Max pathogenic AF

—

Genomic locus

chr11:102,691,487-102,705,769

External References & Databases

Ensembl (ENSG00000137675)

Transcript & Mutation Effects

hg38 • Region Span ~14.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MMP27 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 101

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_022122.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			97 clinvar	4 clinvar		101
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	97	4	0	101

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_022122.3	RefSeq	NP_071405.2	10	MANE Select
ENST00000260229.5	Ensembl	ENSP00000260229.4	10	MANE Select
ENST00001144511.1	Ensembl	ENSP00000803038.1	10	Standard
XM_011542948.3	RefSeq	XP_011541250.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Matrix Metalloproteinases

Biological Process

proteolysis
extracellular matrix organization
collagen catabolic process

Molecular Function

metalloendopeptidase activity
zinc ion binding

Cellular Component

extracellular space
extracellular matrix
extrinsic component of endoplasmic reticulum membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000260229
Coding exons: 10
Length: 14320
Individuals with no LoFs: 125575
Homozygous LoFs: 1
Heterozygous LoFs: 169
Defined: 125745
p: 0.000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.662	309	278	1.11	0.0000140	3397
Missense (PolyPhen)		125	109.97	1.1367		1364
Synonymous	-0.688	105	96.4	1.09	0.00000484	945
Loss of Function	-1.12	29	23.2	1.25	0.00000123	276

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0035	0.0035	notable
Latino/Admixed American	0.00059	0.00058	rare
Ashkenazi Jewish	0.00060	0.00060	rare
East Asian	0.00060	0.00060	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00051	0.00050	rare
South Asian	0.00024	0.00023	rare
Other	0.0016	0.0016	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Matrix metalloproteinases degrade protein components of the extracellular matrix such as fibronectin, laminin, gelatins and/or collagens. {ECO:0000250}.;

Recessive Scores

pRec: 0.118

Intolerance Scores

LoFtool: 0.927
RVIS EVS: 1.18
RVIS percentile EVS: 92.79

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0926

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium