TIMP2 TIMP metallopeptidase inhibitor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TIMP2provided by HGNC
Official Full Name: TIMP metallopeptidase inhibitor 2provided by HGNC
Primary source: HGNC:HGNC:11821
See related: Ensembl:ENSG00000035862 MIM:188825; AllianceGenome:HGNC:11821
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: DDC8; CSC-21K
Summary: This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. In addition to an inhibitory role against metalloproteinases, the encoded protein has a unique role among TIMP family members in its ability to directly suppress the proliferation of endothelial cells. As a result, the encoded protein may be critical to the maintenance of tissue homeostasis by suppressing the proliferation of quiescent tissues in response to angiogenic factors, and by inhibiting protease activity in tissues undergoing remodelling of the extracellular matrix. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in ovary (RPKM 542.4), endometrium (RPKM 302.2) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (78852977..78925387, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (79747776..79820220, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (76849059..76921469, complement)

Chromosome 17 - NC_000017.11 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of TIMP2 418 G/C and MMP Gene Polymorphism with Risk of Urinary Cancers: Systematic Review and Meta-analysis.
Title: Association of TIMP2 418 G/C and MMP Gene Polymorphism with Risk of Urinary Cancers: Systematic Review and Meta-analysis.
TIMP2 ameliorates blood-brain barrier disruption in traumatic brain injury by inhibiting Src-dependent VE-cadherin internalization.
Title: TIMP2 ameliorates blood-brain barrier disruption in traumatic brain injury by inhibiting Src-dependent VE-cadherin internalization.
Neuronal TIMP2 regulates hippocampus-dependent plasticity and extracellular matrix complexity.
Title: Neuronal TIMP2 regulates hippocampus-dependent plasticity and extracellular matrix complexity.
TIMP-2 as a predictive biomarker in 5-Fu-resistant colorectal cancer.
Title: TIMP-2 as a predictive biomarker in 5-Fu-resistant colorectal cancer.
Serum levels of matrix metalloproteinase 2 and its inhibitor after tonic-clonic seizures.
Title: Serum levels of matrix metalloproteinase 2 and its inhibitor after tonic-clonic seizures.
The Biology and Function of Tissue Inhibitor of Metalloproteinase 2 in the Lungs.
Title: The Biology and Function of Tissue Inhibitor of Metalloproteinase 2 in the Lungs.
Cancer-derived exosomal miR-197-3p confers angiogenesis via targeting TIMP2/3 in lung adenocarcinoma metastasis.
Title: Cancer-derived exosomal miR-197-3p confers angiogenesis via targeting TIMP2/3 in lung adenocarcinoma metastasis.
Effects of TIMP-2 Polymorphisms on Retinopathy of Prematurity Risk, Severity, Recurrence, and Treatment Response.
Title: Effects of TIMP-2 Polymorphisms on Retinopathy of Prematurity Risk, Severity, Recurrence, and Treatment Response.
TIMP2 genetic variation rs4789932 may associate with an increased risk of developing acne scarring based on a case-control study of Chinese Han population.
Title: TIMP2 genetic variation rs4789932 may associate with an increased risk of developing acne scarring based on a case-control study of Chinese Han population.
The role of tissue inhibitor of metalloproteinases in the aetiology of inguinal and incisional hernias.
Title: The role of tissue inhibitor of metalloproteinases in the aetiology of inguinal and incisional hernias.

Submit: New GeneRIF Correction See all GeneRIFs (434)

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

EBI GWAS Catalog

Description
Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of chronic periodontitis in a general German population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Wnt signaling and Dupuytren's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat induced monocyte invasion is inhibited by anti-beta integrin Ab or tissue inhibitor of metalloproteinase (TIMP), indicating an interaction with beta integrins and TIMP	PubMed
	tat	HIV-1 Tat downregulates both basal and bFGF-induced secretion of TIMP-1 and TIMP-2, an effect involved in the Tat and bFGF induced increase in MMP-2 secretion	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Timp2 (e-PCR), detects polymorphism
- UniSTS:265761

D13S1217 (e-PCR)
- UniSTS:154163

Cda13g07 (e-PCR)
- UniSTS:52281

Timp2 (e-PCR), detects polymorphism
- UniSTS:532066

Timp2 (e-PCR), detects polymorphism
- UniSTS:532067

Timp2 (e-PCR), detects polymorphism
- UniSTS:532070

HSC13G072 (e-PCR)
- UniSTS:60311

RH65725 (e-PCR)
- UniSTS:78532

D17S815E (e-PCR)
- UniSTS:147412

RH71380 (e-PCR)
- UniSTS:5089

RH46997 (e-PCR)
- UniSTS:35302

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metalloendopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables molecular function inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables peptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables protease binding	IBA Inferred from Biological aspect of Ancestor more info
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of membrane protein ectodomain proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of metallopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in response to cytokine	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to hormone	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in specific granule lumen	TAS Traceable Author Statement more info
located_in tertiary granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: metalloproteinase inhibitor 2

Names: testicular secretory protein Li 57; tissue inhibitor of metalloproteinases 2

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.

mRNA and Protein(s)

NM_003255.5 → NP_003246.1 metalloproteinase inhibitor 2 precursor

See identical proteins and their annotated locations for NP_003246.1

Status: REVIEWED

Source sequence(s)

AC022966, AC100788, AL110197, BC052605

Consensus CDS

CCDS11758.1

UniProtKB/Swiss-Prot

P16035, Q16121, Q93006, Q9UDF7

UniProtKB/TrEMBL

A0A140VK57

Related

ENSP00000262768.6, ENST00000262768.11

Conserved Domains (1) summary

cd03585
Location:27 → 209

NTR_TIMP; NTR domain, TIMP subfamily; TIMPs, or tissue inibitors of metalloproteases, are essential regulators of extracellular matrix turnover and remodeling. They form complexes with matrix metalloproteases (MMPs) and inactivate them irreversibly by ...