Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 7033
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol TFF3   Gene   UCSC   Ensembl
Aliases ITF, P1B, TFI
Gene name trefoil factor 3
Alternate names trefoil factor 3, polypeptide P1.B, trefoil factor 3 (intestinal),
Gene location 21q22.3 (42315595: 42311666)     Exons: 3     NC_000021.9
Gene summary(Entrez) Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer and affect healing of the epithelium. This gene is expressed in goblet cells of the intestines and colon. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq, Jul 2008]
OMIM 600633

Protein Summary

Protein general information Q07654  

Name: Trefoil factor 3 (Intestinal trefoil factor) (hITF) (Polypeptide P1.B) (hP1.B)

Length: 94  Mass: 10,181

Tissue specificity: Expressed in goblet cells of the intestines and colon (at protein level). Expressed by goblet cells of small and large intestinal epithelia and also by the uterus. Also expressed in the hypothalamus where it is detected in paraventricu

Sequence MKRVLSCVPEPTVVMAARALCMLGLVLALLSSSSAEEYVGLSANQCAVPAKDRVDCGYPHVTPKECNNRGCCFDS
RIPGVPWCFKPLQEAECTF
Structural information
Protein Domains
P-type. (44-87)
Interpro:  IPR017994 IPR017957 IPR000519
Prosite:   PS00025 PS51448

Pfam:  
PF00088
CDD:   cd00111

PDB:  
1E9T 1PE3
PDBsum:   1E9T 1PE3
STRING:   ENSP00000430690;
Other Databases GeneCards:  TFF3;  Malacards:  TFF3

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0003674 molecular_function
ND molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0006952 defense response
TAS biological_process
GO:0007586 digestion
TAS biological_process
GO:0007586 digestion
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0003674 molecular_function
ND molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
IEA cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0006952 defense response
TAS biological_process
GO:0007586 digestion
TAS biological_process
GO:0007586 digestion
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0003674 molecular_function
ND molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0006952 defense response
TAS biological_process
GO:0007586 digestion
TAS biological_process
GO:0007586 digestion
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component

Diseases

Associated diseases References
Lung cancer GAD18676680
Chronic obstructive pulmonary disease (COPD) GAD19625176
Bladder cancer GAD19692168
Endometriosis PubMed27330011

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
27330011 Endometrio
sis

174 women with
or without endo
metriosis

Show abstract