Format

Send to:

Choose Destination

TIMP3 TIMP metallopeptidase inhibitor 3 [ Homo sapiens (human) ]

Gene ID: 7078, updated on 16-Oct-2021

Summary

Official Symbol
TIMP3provided by HGNC
Official Full Name
TIMP metallopeptidase inhibitor 3provided by HGNC
Primary source
HGNC:HGNC:11822
See related
Ensembl:ENSG00000100234 MIM:188826
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
SFD; K222; K222TA2; HSMRK222
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 (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy. [provided by RefSeq, Jul 2008]
Expression
Broad expression in placenta (RPKM 485.4), fat (RPKM 420.5) and 18 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See TIMP3 in Genome Data Viewer
Location:
22q12.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (32801705..32863041)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (33197691..33259028)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene synapsin III Neighboring gene uncharacterized LOC105373002 Neighboring gene RNA, 5S ribosomal pseudogene 497 Neighboring gene Sharpr-MPRA regulatory region 12398 Neighboring gene long intergenic non-protein coding RNA 1640

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
GeneReviews: Not available
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
GeneReviews: Not available
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
GeneReviews: Not available
Seven new loci associated with age-related macular degeneration.
GeneReviews: Not available
Sorsby fundus dystrophy
MedGen: C1850938 OMIM: 136900 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
enables metalloendopeptidase inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
enables protease binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
metalloproteinase inhibitor 3
Names
MIG-5 protein
TIMP-3
protein MIG-5
tissue inhibitor of metalloproteinases 3

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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

  1. NG_009117.2 RefSeqGene

    Range
    5001..66337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000362.5NP_000353.1  metalloproteinase inhibitor 3 precursor

    See identical proteins and their annotated locations for NP_000353.1

    Status: REVIEWED

    Source sequence(s)
    AF035289, AL023282, BC014277, Z98256
    Consensus CDS
    CCDS13911.1
    UniProtKB/Swiss-Prot
    P35625
    Related
    ENSP00000266085.5, ENST00000266085.7
    Conserved Domains (1) summary
    cd03585
    Location:24200
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    32801705..32863041
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center