Gene: Timp2

Basic information

Tag Content
Uniprot ID Q6PI17
Entrez ID 21858
Genbank protein ID AAH49126.1
Genbank nucleotide ID NM_011594.3
Ensembl protein ID ENSMUSP00000017610
Ensembl nucleotide ID ENSMUSG00000017466
Gene name Metalloproteinase inhibitor 2
Gene symbol Timp2
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage E12.5, E13.5, E14.5
Data sources Homology search
Reference
Functional description
Sequence
MGAAARSLRL ALGLLLLATL LRPADACSCS PVHPQQAFCN ADVVIRAKAV SEKEVDSGND 60
IYGNPIKRIQ YEIKQIKMFK GPDKDIEFIY TAPSSAVCGV SLDVGGKKEY LIAGKAEGDG 120
KMHITLCDFI VPWDTLSITQ KKSLNHRYQM GCECKITRCP MIPCYISSPD ECLWMDWVTE 180
KSINGHQAKF FACIKRSDGS CAWYRGAAPP KQEFLDIEDP

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologTIMP2102178107A0A452G0J3Capra hircusPredictionMore>>
1:1 orthologTIMP27077P16035Homo sapiensPublicationMore>>
1:1 orthologTimp221858Q6PI17E12.5, E13.5, E14.5Mus musculusPredictionMore>>
1:1 orthologTIMP2743167H2RHV1Pan troglodytesPredictionMore>>
1:1 orthologTIMP2396988C0JPM4Sus scrofaPredictionMore>>
1:1 orthologTimp229543P30121Rattus norvegicusPredictionMore>>
1:1 orthologtimp2aQ1RLX2Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
TIMP2rs7502916A>CGenotyping21462296
TIMP2rs4789936C>TGenotyping21462296
TIMP2rs6501266C>TGenotyping21462296
TIMP2rs7211674A>CGenotyping21462296
TIMP2rs7212662T>GGenotyping21462296

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence

GO:Biological Process

GO ID GO Term Evidence

GO:Cellular Component

GO ID GO Term Evidence

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-1015 Disulfide bond
KW-1267 Proteomics identification
KW-1185 Reference proteome
KW-0964 Secreted
KW-0732 Signal

Interpro

InterPro ID InterPro Term
IPR001134 Netrin_domain
IPR001820 TIMP
IPR008993 TIMP-like_OB-fold
IPR015613 TIMP2
IPR027465 TIMP_C
IPR030490 TIMP_CS

PROSITE

PROSITE ID PROSITE Term
PS50189 NTR
PS00288 TIMP

Pfam

Pfam ID Pfam Term
PF00965 TIMP