Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

TAGLN (transgelin)

Written2010-09Stephen Assinder
Physiology, School of Medical Sciences & Bosch Institute, F13 - Anderson Stuart Building, University of Sydney, Australia

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)SM22
WS3-10
TAGLN1
SMCC
DKFZp686P11128
Other aliasDKFZp686B01212
HGNC (Hugo) TAGLN
LocusID (NCBI) 6876
Atlas_Id 46168
Location 11q23.3  [Link to chromosome band 11q23]
Location_base_pair Starts at 117199324 and ends at 117204792 bp from pter ( according to hg19-Feb_2009)  [Mapping TAGLN.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
COL12A1 (6q13) / TAGLN (11q23.3)HSPB8 (12q24.23) / TAGLN (11q23.3)NIN (14q22.1) / TAGLN (11q23.3)
PHLDB1 (11q23.3) / TAGLN (11q23.3)RPL18 (19q13.33) / TAGLN (11q23.3)SIDT2 (11q23.3) / TAGLN (11q23.3)
TAGLN (11q23.3) / ANKHD1-EIF4EBP3 (5q31.3)TAGLN (11q23.3) / BCORL1 (Xq26.1)TAGLN (11q23.3) / F8A3 (Xq28)
TAGLN (11q23.3) / LRRC61 (7q36.1)TAGLN (11q23.3) / NIN (14q22.1)TAGLN (11q23.3) / TAGLN (11q23.3)

DNA/RNA

 
  Figure 1. Gene structure showing 5 exonic regions (boxes) and 4 intronic regions (lines). Expanded promoter provides relative positions of promoters upstream (-) and downstream (+) of start site. CarG = serum response binding box; TCE = TGF-beta control element; SBE = Smad binding element. Resulting transcript is given, with 5' and 3' UTRs (broken line) and translated region (solid line).
Description 5.4 kb gene located on 11q23.2 consisting of 5 exons, a large intron 1 and 3 short introns. Several putative promoters present in 800 bp upstream region.
Transcription A 1566 bp transcript is generated from TAGLN. All exon 1 and first 12 bp of exon 2 are untranslated. As are the last 432 bp of exon 5.

Protein

Note Translated protein sequence is:
MANKGPSYGMSREVQSKIEKKYDEELEERLVEWIIVQCGPDVGRPDRGRLGFQVWLKNGVILSKLVNSLY
PDGSKPVKVPENPPSMVFKQMEQVAQFLKAAEDYGVIKTDMFQTVDLFEGKDMAAVQRTLMALGSLAV
TKNDGHYRGDPNWFMKKAQEHKREFTESQLQEGKHVIGLQMGSNRGASQAGMTGYGRPRQIIS
 
  Figure 2. Primary protein structure with amino acid (aa) positions of the calponin homologue (CH) region with calcium binding site (EF-hand) and actin binding calponin-like (CLIK) region. CKII and PKC refer to putative caseine kinase II and protein kinase C phosphorylation sites respectively.
Description A 201 aa peptide member of the calponin family of actin binding proteins by virtue of a N-terminal calponin homologue domain and a single C-terminal calponin-like module. This C-terminal CLIK is required for actin binding.
Expression Expression profiles are a point of debate. It is found throughout normal smooth muscle of adult vertebrates. It is also found outside of smooth muscle in the spinal chord, adrenal gland and heart, mesenchymal cells and fibroblasts, epithelium of the intestine, glomerular, breast and prostate.
Localisation It is localised to the cytosol where it binds to F-actin.
Function Transgelin is an actin stress fibre binding protein. It gels and stabilises actin gels. In the embryo it is involved in podosome formation and myocyte migration, vascular and visceral smooth muscle cell differentiation, and in the suppression of matrix metallo protease 9 (MMP9) where it is thought to be involved in the suppression of tissue re-modelling following muscle cell differentiation. Similarly in the adult, it is thought to suppress tumour cell invasion through MMP-9 suppression. Furthermore, it has been reported to suppress translocation of androgen receptor to the nucleus. Its expression is down-regulated in many cell lines, and this may be an early marker of the onset of transformation. Indeed it is becoming increasingly evident that transgelin may act as a tumour suppressor.

Implicated in

Note
  
Entity Various cancers
Note Disorganisation of the actin cytoskeleton is a fundamental event of the developing cancer cell phenotype. Transgelin is one of several proteins that bind actin and subsequently cross-link and bundle filaments into stress fibres. Expression is decreased in prostate, breast and colon cancers.
  
  
Entity Prostate cancer
Note Transgelin is one of the 2% most significant of all down regulated genes in prostate cancer. Its expression has been shown to decrease with disease progression with lowest expression in metastasised lesions. Loss of transgelin may be significant to suppression of androgen induced proliferation of androgen dependant prostate cancer as it prevents binding of a co-activator to androgen receptor, thereby blocking nuclear translocation and resulting in suppression of androgen mediated cell growth. Recent studies suggest that transgelin promotes p53 mediated mitochondrial dependent apotptosis. Indeed coimmunoprecipitation and two hybrid studies have shown p53 and transgelin to be binding partners, with re-expression of transgelin promoting cytoplasmic p53 translocation in the prostate cancer cell line LNCaP. The value of transgelin as a target for selenium treatment has very recently been highlighted in a mouse model of prostate cancer (TRAMP mouse) where transgelin is increased with an associated decrease in tumour development.
Prognosis Unknown.
  
  
Entity Colorectal cancer
Note Loss of transgelin is closely associated with progression, differentiation and metastasis of colon cancer. Restoration of transgelin expression both in vitro and in vivo inhibits carcinogenesis. Decreased expression of transgelin in patients with colorectal cancer is associated with elevated levels of anti-transgelin antibodies, particularly during later stages, and subsequently with lower survival.
Prognosis Decreased transgelin is associated with poor prognosis.
  
  
Entity Breast cancer
Note Expression of transgelin occurs early in the disease process, possibly through constitutive ras activation.
Prognosis Unknown.
  
  
Entity Ischaemic heart disease and vascular inflammation
Note Coronary arteries of the ischemic heart display increased abundance of transgelin. In TAGLN null mice inflammatory response is increased following carotid artery injury. It is suggested that transgelin suppresses pro-inflamatory NF kappa B and oxidative stress (via suppression of superoxide dismutase and p47 phox).
  

Bibliography

Transgelin: an actin-binding protein and tumour suppressor.
Assinder SJ, Stanton JA, Prasad PD.
Int J Biochem Cell Biol. 2009 Mar;41(3):482-6. Epub 2008 Mar 10. (REVIEW)
PMID 18378184
 
Expression and cytogenetic localization of the human SM22 gene (TAGLN).
Camoretti-Mercado B, Forsythe SM, LeBeau MM, Espinosa R 3rd, Vieira JE, Halayko AJ, Willadsen S, Kurtz B, Ober C, Evans GA, Thweatt R, Shapiro S, Niu Q, Qin Y, Padrid PA, Solway J.
Genomics. 1998 May 1;49(3):452-7.
PMID 9615232
 
Smad proteins regulate transcriptional induction of the SM22alpha gene by TGF-beta.
Chen S, Kulik M, Lechleider RJ.
Nucleic Acids Res. 2003 Feb 15;31(4):1302-10.
PMID 12582250
 
SM22alpha is required for agonist-induced regulation of contractility: evidence from SM22alpha knockout mice.
Je HD, Sohn UD.
Mol Cells. 2007 Apr 30;23(2):175-81.
PMID 17464194
 
Fibroblast transgelin and smooth muscle SM22alpha are the same protein, the expression of which is down-regulated in many cell lines.
Lawson D, Harrison M, Shapland C.
Cell Motil Cytoskeleton. 1997;38(3):250-7.
PMID 9384215
 
Isolation and characterization of an abundant and novel 22-kDa protein (SM22) from chicken gizzard smooth muscle.
Lees-Miller JP, Heeley DH, Smillie LB, Kay CM.
J Biol Chem. 1987 Mar 5;262(7):2988-93.
PMID 3818630
 
Expression cloning identifies transgelin (SM22) as a novel repressor of 92-kDa type IV collagenase (MMP-9) expression.
Nair RR, Solway J, Boyd DD.
J Biol Chem. 2006 Sep 8;281(36):26424-36. Epub 2006 Jul 10.
PMID 16835221
 
Expression of the actin-associated protein transgelin (SM22) is decreased in prostate cancer.
Prasad PD, Stanton JA, Assinder SJ.
Cell Tissue Res. 2010 Feb;339(2):337-47. Epub 2009 Dec 11.
PMID 20012321
 
Loss of transgelin in breast and colon tumors and in RIE-1 cells by Ras deregulation of gene expression through Raf-independent pathways.
Shields JM, Rogers-Graham K, Der CJ.
J Biol Chem. 2002 Mar 22;277(12):9790-9. Epub 2001 Dec 28.
PMID 11773051
 
Transgelin functions as a suppressor via inhibition of ARA54-enhanced androgen receptor transactivation and prostate cancer cell growth.
Yang Z, Chang YJ, Miyamoto H, Ni J, Niu Y, Chen Z, Chen YL, Yao JL, di Sant'Agnese PA, Chang C.
Mol Endocrinol. 2007 Feb;21(2):343-58. Epub 2006 Nov 2.
PMID 17082327
 

Citation

This paper should be referenced as such :
Assinder, S
TAGLN (transgelin)
Atlas Genet Cytogenet Oncol Haematol. 2011;15(6):477-479.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/TAGLNID46168ch11q23.html


External links

Nomenclature
HGNC (Hugo)TAGLN   11553
Cards
AtlasTAGLNID46168ch11q23
Entrez_Gene (NCBI)TAGLN  6876  transgelin
AliasesSM22; SMCC; TAGLN1; WS3-10
GeneCards (Weizmann)TAGLN
Ensembl hg19 (Hinxton)ENSG00000149591 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149591 [Gene_View]  chr11:117199324-117204792 [Contig_View]  TAGLN [Vega]
ICGC DataPortalENSG00000149591
TCGA cBioPortalTAGLN
AceView (NCBI)TAGLN
Genatlas (Paris)TAGLN
WikiGenes6876
SOURCE (Princeton)TAGLN
Genetics Home Reference (NIH)TAGLN
Genomic and cartography
GoldenPath hg38 (UCSC)TAGLN  -     chr11:117199324-117204792 +  11q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TAGLN  -     11q23.2   [Description]    (hg19-Feb_2009)
EnsemblTAGLN - 11q23.2 [CytoView hg19]  TAGLN - 11q23.2 [CytoView hg38]
Mapping of homologs : NCBITAGLN [Mapview hg19]  TAGLN [Mapview hg38]
OMIM600818   
Gene and transcription
Genbank (Entrez)AB209555 AI817828 AK223002 AK314043 BC004927
RefSeq transcript (Entrez)NM_001001522 NM_003186
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TAGLN
Cluster EST : UnigeneHs.410977 [ NCBI ]
CGAP (NCI)Hs.410977
Alternative Splicing GalleryENSG00000149591
Gene ExpressionTAGLN [ NCBI-GEO ]   TAGLN [ EBI - ARRAY_EXPRESS ]   TAGLN [ SEEK ]   TAGLN [ MEM ]
Gene Expression Viewer (FireBrowse)TAGLN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6876
GTEX Portal (Tissue expression)TAGLN
Human Protein AtlasENSG00000149591-TAGLN [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01995   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ01995  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01995
Splice isoforms : SwissVarQ01995
PhosPhoSitePlusQ01995
Domaine pattern : Prosite (Expaxy)CALPONIN_1 (PS01052)    CALPONIN_2 (PS51122)    CH (PS50021)   
Domains : Interpro (EBI)Calponin_repeat    CH-domain    SM22_calponin    TAGLN   
Domain families : Pfam (Sanger)Calponin (PF00402)    CH (PF00307)   
Domain families : Pfam (NCBI)pfam00402    pfam00307   
Domain families : Smart (EMBL)CH (SM00033)  
Conserved Domain (NCBI)TAGLN
DMDM Disease mutations6876
Blocks (Seattle)TAGLN
SuperfamilyQ01995
Human Protein Atlas [tissue]ENSG00000149591-TAGLN [tissue]
Peptide AtlasQ01995
HPRD02891
IPIIPI00216138   IPI00386638   IPI00556415   IPI00744865   IPI00982343   IPI00981034   
Protein Interaction databases
DIP (DOE-UCLA)Q01995
IntAct (EBI)Q01995
FunCoupENSG00000149591
BioGRIDTAGLN
STRING (EMBL)TAGLN
ZODIACTAGLN
Ontologies - Pathways
QuickGOQ01995
Ontology : AmiGOprotein binding  cytoplasm  muscle organ development  epithelial cell differentiation  actin filament binding  
Ontology : EGO-EBIprotein binding  cytoplasm  muscle organ development  epithelial cell differentiation  actin filament binding  
NDEx NetworkTAGLN
Atlas of Cancer Signalling NetworkTAGLN
Wikipedia pathwaysTAGLN
Orthology - Evolution
OrthoDB6876
GeneTree (enSembl)ENSG00000149591
Phylogenetic Trees/Animal Genes : TreeFamTAGLN
HOVERGENQ01995
HOGENOMQ01995
Homologs : HomoloGeneTAGLN
Homology/Alignments : Family Browser (UCSC)TAGLN
Gene fusions - Rearrangements
Fusion : MitelmanRPL18/TAGLN [19q13.33/11q23.3]  [t(11;19)(q23;q13)]  
Fusion: TCGA_MDACCRPL18 19q13.33 TAGLN 11q23.3 PRAD
Tumor Fusion PortalTAGLN
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTAGLN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TAGLN
dbVarTAGLN
ClinVarTAGLN
1000_GenomesTAGLN 
Exome Variant ServerTAGLN
ExAC (Exome Aggregation Consortium)ENSG00000149591
GNOMAD BrowserENSG00000149591
Genetic variants : HAPMAP6876
Genomic Variants (DGV)TAGLN [DGVbeta]
DECIPHERTAGLN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTAGLN 
Mutations
ICGC Data PortalTAGLN 
TCGA Data PortalTAGLN 
Broad Tumor PortalTAGLN
OASIS PortalTAGLN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTAGLN  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTAGLN
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TAGLN
DgiDB (Drug Gene Interaction Database)TAGLN
DoCM (Curated mutations)TAGLN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TAGLN (select a term)
intoGenTAGLN
NCG5 (London)TAGLN
Cancer3DTAGLN(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600818   
Orphanet
DisGeNETTAGLN
MedgenTAGLN
Genetic Testing Registry TAGLN
NextProtQ01995 [Medical]
TSGene6876
GENETestsTAGLN
Target ValidationTAGLN
Huge Navigator TAGLN [HugePedia]
snp3D : Map Gene to Disease6876
BioCentury BCIQTAGLN
ClinGenTAGLN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6876
Chemical/Pharm GKB GenePA36324
Clinical trialTAGLN
Miscellaneous
canSAR (ICR)TAGLN (select the gene name)
Probes
Litterature
PubMed74 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTAGLN
EVEXTAGLN
GoPubMedTAGLN
iHOPTAGLN
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 15:04:10 CET 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.