Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 6876
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol TAGLN   Gene   UCSC   Ensembl
Aliases SM22, SMCC, TAGLN1, WS3-10
Gene name transgelin
Alternate names transgelin, 22 kDa actin-binding protein, SM22-alpha, smooth muscle protein 22-alpha, transgelin variant 2,
Gene location 11q23.3 (117199323: 117204791)     Exons: 5     NC_000011.10
Gene summary(Entrez) The protein encoded by this gene is a transformation and shape-change sensitive actin cross-linking/gelling protein found in fibroblasts and smooth muscle. Its expression is down-regulated in many cell lines, and this down-regulation may be an early and sensitive marker for the onset of transformation. A functional role of this protein is unclear. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
OMIM 600818

Protein Summary

Protein general information Q01995  

Name: Transgelin (22 kDa actin binding protein) (Protein WS3 10) (Smooth muscle protein 22 alpha) (SM22 alpha)

Length: 201  Mass: 22,611

Sequence MANKGPSYGMSREVQSKIEKKYDEELEERLVEWIIVQCGPDVGRPDRGRLGFQVWLKNGVILSKLVNSLYPDGSK
PVKVPENPPSMVFKQMEQVAQFLKAAEDYGVIKTDMFQTVDLFEGKDMAAVQRTLMALGSLAVTKNDGHYRGDPN
WFMKKAQEHKREFTESQLQEGKHVIGLQMGSNRGASQAGMTGYGRPRQIIS
Structural information
Protein Domains
CH. (24-137)
Interpro:  IPR000557 IPR001715 IPR003096 IPR029976
Prosite:   PS01052 PS51122 PS50021

Pfam:  
PF00402 PF00307
CDD:   cd00014
MINT:   2805284
STRING:   ENSP00000278968;
Other Databases GeneCards:  TAGLN;  Malacards:  TAGLN

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0003779 actin binding
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005737 cytoplasm
IEA cellular_component
GO:0007517 muscle organ development
TAS biological_process
GO:0030855 epithelial cell different
iation
IDA biological_process
GO:0003779 actin binding
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0007517 muscle organ development
TAS biological_process
GO:0030855 epithelial cell different
iation
IDA biological_process
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0007517 muscle organ development
TAS biological_process
GO:0030855 epithelial cell different
iation
IDA biological_process

Diseases

Associated diseases References
Endometriosis PMID: 21763649
Endometriosis INFBASE21763649

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21763649 Endometrio
sis


TAGLN
Show abstract