MMP21 matrix metallopeptidase 21 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MMP21provided by HGNC
Official Full Name: matrix metallopeptidase 21provided by HGNC
Primary source: HGNC:HGNC:14357
See related: Ensembl:ENSG00000154485 MIM:608416; AllianceGenome:HGNC:14357
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HTX7; MMP-21
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, and disease processes, such as asthma and tumor metastasis. The encoded protein may play an important role in embryogenesis, particularly in neuronal cells, as well as in lymphocyte development and survival. [provided by RefSeq, May 2013]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 10q26.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (125766453..125775821, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (126648903..126658271, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (127455022..127464390, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

De novo disruptive heterozygous MMP21 variants are potential predisposing genetic risk factors in Chinese Han heterotaxy children.
Title: De novo disruptive heterozygous MMP21 variants are potential predisposing genetic risk factors in Chinese Han heterotaxy children.
A novel miRNA-4484 is up-regulated on microarray and associated with increased MMP-21 expression in serum of systemic sclerosis patients.
Title: A novel miRNA-4484 is up-regulated on microarray and associated with increased MMP-21 expression in serum of systemic sclerosis patients.
TWIST1, MMP-21, and HLAG-1 co-overexpression is associated with ESCC aggressiveness.
Title: TWIST1, MMP-21, and HLAG-1 co-overexpression is associated with ESCC aggressiveness.
MMP-21 572TT genotype increased the risk for the HIV-associated neurocognitive disorder.
Title: Effect of matrix metalloproteinase-21 (572C/T) polymorphism on HIV-associated neurocognitive disorder.
loss of MMP21 as a cause of heterotaxy in humans with concomitant defects in Notch signaling.
Title: A human laterality disorder caused by a homozygous deleterious mutation in MMP21.
Data show that MMP21 (encoding matrix metallopeptidase 21) point mutations were verified by Sanger sequencing, and segregation analysis indicated recessive inheritance.
Title: MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Increased MMP-21 expression in esophageal squamous cell carcinoma is associated with progression and lymph node metastasis.
Title: Increased MMP-21 expression in esophageal squamous cell carcinoma is associated with progression and prognosis.
These results suggest that high MMP-21 expression in lymph node metastatic foci can be used to predict survival in OSCC patients with LNM
Title: High MMP-21 expression in metastatic lymph nodes predicts unfavorable overall survival for oral squamous cell carcinoma patients with lymphatic metastasis.
analysis proved MMP-21 to be an independent prognostic factor for overall survival of gastric cancer patients
Title: Increased MMP-21 expression is associated with poor overall survival of patients with gastric cancer.
MMP-21 expression is elevated in primary CRC and related to tumor invasion and metastasis. MMP-21 was also proved to be an independent prognostic factor for patients with stage II and stage III colorectal cancer.
Title: Identification of high-risk stage II and stage III colorectal cancer by analysis of MMP-21 expression.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Heterotaxy, visceral, 7, autosomal MedGen: C4225217 OMIM: 616749 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in collagen catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in coronary vasculature development	IEA Inferred from Electronic Annotation more info
involved_in determination of heart left/right asymmetry	ISS Inferred from Sequence or Structural Similarity more info
involved_in determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in hematopoietic progenitor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular matrix	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: matrix metalloproteinase-21

Names: matrix metalloproteinase 21

NP_671724.1

EC 3.4.24.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_052815.2 RefSeqGene

Range

5001..14369

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1307

mRNA and Protein(s)

NM_147191.1 → NP_671724.1 matrix metalloproteinase-21 preproprotein

See identical proteins and their annotated locations for NP_671724.1

Status: REVIEWED

Source sequence(s)

AF331526, AF520613

Consensus CDS

CCDS7647.1

UniProtKB/Swiss-Prot

Q5VZP9, Q8N119, Q8NG02

Related

ENSP00000357798.3, ENST00000368808.3

Conserved Domains (4) summary

cd00094
Location:350 → 536

HX; Hemopexin-like repeats.; Hemopexin is a heme-binding protein that transports heme to the liver. Hemopexin-like repeats occur in vitronectin and some matrix metalloproteinases family (matrixins). The HX repeats of some matrixins bind tissue inhibitor of ...

cd04278
Location:171 → 327

ZnMc_MMP; Zinc-dependent metalloprotease, matrix metalloproteinase (MMP) sub-family. MMPs are responsible for a great deal of pericellular proteolysis of extracellular matrix and cell surface molecules, playing crucial roles in morphogenesis, cell fate ...

pfam00413
Location:170 → 327

Peptidase_M10; Matrixin

pfam01471
Location:48 → 112

PG_binding_1; Putative peptidoglycan binding domain