TIMP4 TIMP metallopeptidase inhibitor 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TIMP4provided by HGNC
Official Full Name: TIMP metallopeptidase inhibitor 4provided by HGNC
Primary source: HGNC:HGNC:11823
See related: Ensembl:ENSG00000157150 MIM:601915; AllianceGenome:HGNC:11823
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: TIMP-4
Summary: This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. The secreted, netrin domain-containing protein encoded by this gene is involved in regulation of platelet aggregation and recruitment and may play role in hormonal regulation and endometrial tissue remodeling. [provided by RefSeq, Jul 2008]
Expression: Biased expression in fat (RPKM 76.2) and brain (RPKM 10.2) See more
Orthologs: mouse all
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Genomic context

Location:: 3p25.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (12153068..12158912, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (12151357..12157146, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (12194568..12200412, complement)

Chromosome 3 - NC_000003.12 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?

Altered brain expression and cerebrospinal fluid levels of TIMP4 in cerebral amyloid angiopathy.
Title: Altered brain expression and cerebrospinal fluid levels of TIMP4 in cerebral amyloid angiopathy.
Defect of TIMP4 Is Associated with High Myopia and Participates in Rat Ocular Development in a Dose-Dependent Manner.
Title: Defect of TIMP4 Is Associated with High Myopia and Participates in Rat Ocular Development in a Dose-Dependent Manner.
Contribution of gene polymorphisms on 3p25 to salivary gland carcinoma, ameloblastoma, and odontogenic keratocyst in the Chinese Han population.
Title: Contribution of gene polymorphisms on 3p25 to salivary gland carcinoma, ameloblastoma, and odontogenic keratocyst in the Chinese Han population.
The Expression of Matrix Metalloproteinases in Eyes with Intraocular Lymphoma.
Title: The Expression of Matrix Metalloproteinases in Eyes with Intraocular Lymphoma.
Comprehensive analysis of expression, prognosis and immune infiltration for TIMPs in glioblastoma.
Title: Comprehensive analysis of expression, prognosis and immune infiltration for TIMPs in glioblastoma.
Upregulated long noncoding RNA Linc00261 in pre-eclampsia and its effect on trophoblast invasion and migration via regulating miR-558/TIMP4 signaling pathway.
Title: Upregulated long noncoding RNA Linc00261 in pre-eclampsia and its effect on trophoblast invasion and migration via regulating miR-558/TIMP4 signaling pathway.
High TIMP4 expression is associated with well-differentiated liposarcoma.
Title: The transition of tissue inhibitor of metalloproteinases from -4 to -1 induces aggressive behavior and poor patient survival in dedifferentiated liposarcoma via YAP/TAZ activation.
Study showed that COL1A2 and alpha-1 AT were overexpressed, CTSB was marginally overexpressed, and TIMP4 had equivocal expression in the aneurysmal sac when compared with the normal extracranial vessel. This is the first study of its kind in the Indian population with the largest sample size on live human patients.
Title: Gene Expression in Intracranial Aneurysms-Comparison Analysis of Aneurysmal Walls and Extracranial Arteries with Real-Time Polymerase Chain Reaction and Immunohistochemistry.
A case-control study indicates that the TT genotype and the T allele for the C>T (rs17035945) polymorphism were more frequent in healthy pregnant women, suggesting that these genetic variations confer a protection against preeclampsia.
Title: C>T (rs17035945) polymorphism of TIMP-4 protects against preeclampsia.
MMP2/TIMP4 ratio is a marker of disease severity and right ventricular function as well as a predictor for survival and time to clinical worsening in idiopathic pulmonary arterial hypertension.
Title: Plasma MMP2/TIMP4 Ratio at Follow-up Assessment Predicts Disease Progression of Idiopathic Pulmonary Arterial Hypertension.

Submit: New GeneRIF Correction See all GeneRIFs (56)

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

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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Markers

SHGC-76712 (e-PCR)
- UniSTS:78110

TIMP4_1491 (e-PCR)
- UniSTS:277817

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase inhibitor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of membrane protein ectodomain proteolysis	IBA Inferred from Biological aspect of Ancestor more info
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
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: metalloproteinase inhibitor 4

Names: tissue inhibitor of metalloproteinase 4; tissue inhibitor of metalloproteinases 4

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_003256.4 → NP_003247.1 metalloproteinase inhibitor 4 precursor

See identical proteins and their annotated locations for NP_003247.1

Status: REVIEWED

Source sequence(s)

BC010553

Consensus CDS

CCDS2608.1

UniProtKB/Swiss-Prot

B2R7K6, Q99727

Related

ENSP00000287814.4, ENST00000287814.5

Conserved Domains (1) summary

cd03585
Location:30 → 213

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 ...