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CD109 (CD109 molecule)

Written2011-08Shinji Mii, Yoshiki Murakumo, Masahide Takahashi
Department of Pathology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan

(Note : for Links provided by Atlas : click)

Identity

Alias_namesCD109 antigen (Gov platelet alloantigens)
Alias_symbol (synonym)FLJ38569
DKFZp762L1111
CPAMD7
Other aliasFLJ41966
RP11-525G3.1
HGNC (Hugo) CD109
LocusID (NCBI) 135228
Atlas_Id 42925
Location 6q13  [Link to chromosome band 6q13]
Location_base_pair Starts at 74405808 and ends at 74538041 bp from pter ( according to hg19-Feb_2009)  [Mapping CD109.png]
Fusion genes
(updated 2016)
CD109 (6q13) / CELF1 (11p11.2)CD109 (6q13) / MTO1 (6q13)CD109 (6q13) / NPHP1 (2q13)
DPP4 (2q24.2) / CD109 (6q13)
Note CD109 is a glycosylphosphatidylinositol (GPI)-anchored cell-surface glycoprotein and is a member of the alpha-2-macroglobulin/C3,C4,C5 family of thioester-containing proteins.

DNA/RNA

 
  Exon-intron structure of CD109 gene. The vertical bars correspond to exons.
Description CD109 is a gene of 132.53 kb comprising 33 exons and 32 introns. The 5' part of exon 1 and the 3' part of exon 33 are non-coding.
Transcription Three splice variants are known. The length of the longest variant is 9464 bp (CDS: 426-4763). mRNA is mainly expressed in skin and testis.
Pseudogene Not known.

Protein

 
  Representation of the CD109 protein with localization of recognized domains. CD109 protein is a GPI-anchored protein having signal peptide, Gov antigen, thioester region, and furinase cleavage site.
Description CD109 is a GPI-anchored cell-surface glycoprotein and is a member of the alpha-2-macroglobulin/C3,C4,C5 family of thioester-containing proteins (Sutherland et al., 1991; Haregewoin et al., 1994; Smith et al., 1995; Lin et al., 2002). The CD109 protein was first identified as a cell-surface antigen detected by a monoclonal antibody raised against the primitive lymphoid/myeloid cell line KG1a (Sutherland et al., 1991). It was also shown that CD109 carries the biallelic platelet-specific alloantigen Gov (Kelton et al., 1990; Smith et al., 1995).
Expression CD109 is expressed on a subset of fetal and adult CD34+ bone marrow mononuclear cells, mesenchymal stem cell subsets, phytohemagglutinin (PHA)-activated T lymphoblasts, thrombin-activated platelets, leukemic megakaryoblasts, endothelial cells, and some human tumor cell lines, but not on fresh peripheral leukocytes and normal bone marrow leukocytes (Kelton et al., 1990; Murray et al., 1999; Giesert et al., 2003).
In normal human tissues other than hematopoietic cells, CD109 is expressed in limited cells including the myoepithelial cells of the mammary, lacrimal, salivary and bronchial glands and the basal cells of the prostate and the bronchial epithelia (Hashimoto et al., 2004; Zhang et al., 2005; Sato et al., 2007; Hasegawa et al., 2007; Hasegawa et al., 2008).
Recently, it has been reported that CD109 is highly expressed in several types of human cancer tissues, in particular squamous cell carcinomas (Hashimoto et al., 2004; Zhang et al., 2005; Sato et al., 2007; Hasegawa et al., 2007; Hasegawa et al., 2008; Järvinen et al., 2008; Hagiwara et al., 2008; Ohshima et al., 2010; Hagikura et al., 2010).
Localisation Plasma membrane.
Function CD109 negatively regulates TGF-beta signaling in keratinocytes by directly modulating TGF-beta receptor activity in vitro (Finnson et al., 2006).
Homology Orthologs: mouse CD109, rat CD109, cow CD109, dog CD109, chicken CD109, hagfish CD109, nematode CD109.
Paralogs: alpha-2-macroglobulin, alpha-2-macroglobulin-like-1, C3, C4, C5, PZP, CPAMD8.

Mutations

Note A Tyr703Ser polymorphism of CD109 is associated with Gova and Govb alloantigenic determination (Schuh et al., 2002).

Implicated in

Note
  
Entity Various cancer
Note CD109 is upregulated in squamous cell carcinomas (SCCs) of lung, esophagus, uterus and oral cavity, malignant melanoma of skin, and urothelial carcinoma of urinary bladder (Hashimoto et al., 2004; Zhang et al., 2005; Sato et al., 2007; Hasegawa et al., 2007; Hasegawa et al., 2008; Järvinen et al., 2008; Hagiwara et al., 2008; Ohshima et al., 2010; Hagikura et al., 2010).
Prognosis The CD109 expression is significantly higher in well-differentiated SCCs of the oral cavity and in low-grade urothelial carcinomas of the urinary bladder than in moderately- or poorly-differentiated SCCs and in high-grade urothelial carcinomas, respectively (Hagiwara et al., 2008; Hagikura et al., 2010).
  
  
Entity Alloimmune thrombocytopenic syndromes
Note Refractoriness to platelet transfusion, post-transfusion purpura, and neonatal alloimmune thrombocytopenia (Smith et al., 1995).
Disease These diseases are included in alloimmune thrombocytopenic syndromes. Gova/b platelet alloantigens, which reside in the CD109 protein, are the cause of these 3 diseases.
  

Bibliography

Identification of CD109 as part of the TGF-beta receptor system in human keratinocytes.
Finnson KW, Tam BY, Liu K, Marcoux A, Lepage P, Roy S, Bizet AA, Philip A.
FASEB J. 2006 Jul;20(9):1525-7. Epub 2006 Jun 5.
PMID 16754747
 
Antibody W7C5 defines a CD109 epitope expressed on CD34+ and CD34- hematopoietic and mesenchymal stem cell subsets.
Giesert C, Marxer A, Sutherland DR, Schuh AC, Kanz L, Buhring HJ.
Ann N Y Acad Sci. 2003 May;996:227-30.
PMID 12799300
 
Correlation of pathological grade and tumor stage of urothelial carcinomas with CD109 expression.
Hagikura M, Murakumo Y, Hasegawa M, Jijiwa M, Hagiwara S, Mii S, Hagikura S, Matsukawa Y, Yoshino Y, Hattori R, Wakai K, Nakamura S, Gotoh M, Takahashi M.
Pathol Int. 2010 Nov;60(11):735-43. doi: 10.1111/j.1440-1827.2010.02592.x. Epub 2010 Oct 6.
PMID 20946523
 
Up-regulation of CD109 expression is associated with carcinogenesis of the squamous epithelium of the oral cavity.
Hagiwara S, Murakumo Y, Sato T, Shigetomi T, Mitsudo K, Tohnai I, Ueda M, Takahashi M.
Cancer Sci. 2008 Oct;99(10):1916-23.
PMID 19016750
 
Cellular expression of a GPI-linked T cell activation protein.
Haregewoin A, Solomon K, Hom RC, Soman G, Bergelson JM, Bhan AK, Finberg RW.
Cell Immunol. 1994 Jul;156(2):357-70.
PMID 8025953
 
CD109 expression in basal-like breast carcinoma.
Hasegawa M, Moritani S, Murakumo Y, Sato T, Hagiwara S, Suzuki C, Mii S, Jijiwa M, Enomoto A, Asai N, Ichihara S, Takahashi M.
Pathol Int. 2008 May;58(5):288-94.
PMID 18429827
 
Expression of CD109 in human cancer.
Hashimoto M, Ichihara M, Watanabe T, Kawai K, Koshikawa K, Yuasa N, Takahashi T, Yatabe Y, Murakumo Y, Zhang JM, Nimura Y, Takahashi M.
Oncogene. 2004 Apr 29;23(20):3716-20.
PMID 15116102
 
High-resolution copy number and gene expression microarray analyses of head and neck squamous cell carcinoma cell lines of tongue and larynx.
Jarvinen AK, Autio R, Kilpinen S, Saarela M, Leivo I, Grenman R, Makitie AA, Monni O.
Genes Chromosomes Cancer. 2008 Jun;47(6):500-9.
PMID 18314910
 
Gova/b alloantigen system on human platelets.
Kelton JG, Smith JW, Horsewood P, Humbert JR, Hayward CP, Warkentin TE.
Blood. 1990 Jun 1;75(11):2172-6.
PMID 2346781
 
Cell surface antigen CD109 is a novel member of the alpha(2) macroglobulin/C3, C4, C5 family of thioester-containing proteins.
Lin M, Sutherland DR, Horsfall W, Totty N, Yeo E, Nayar R, Wu XF, Schuh AC.
Blood. 2002 Mar 1;99(5):1683-91.
PMID 11861284
 
CD109 is expressed on a subpopulation of CD34+ cells enriched in hematopoietic stem and progenitor cells.
Murray LJ, Bruno E, Uchida N, Hoffman R, Nayar R, Yeo EL, Schuh AC, Sutherland DR.
Exp Hematol. 1999 Aug;27(8):1282-94.
PMID 10428505
 
CD109 expression levels in malignant melanoma.
Ohshima Y, Yajima I, Kumasaka MY, Yanagishita T, Watanabe D, Takahashi M, Inoue Y, Ihn H, Matsumoto Y, Kato M.
J Dermatol Sci. 2010 Feb;57(2):140-2. Epub 2010 Jan 7.
PMID 20034764
 
High-level expression of CD109 is frequently detected in lung squamous cell carcinomas.
Sato T, Murakumo Y, Hagiwara S, Jijiwa M, Suzuki C, Yatabe Y, Takahashi M.
Pathol Int. 2007 Nov;57(11):719-24.
PMID 17922683
 
A tyrosine703serine polymorphism of CD109 defines the Gov platelet alloantigens.
Schuh AC, Watkins NA, Nguyen Q, Harmer NJ, Lin M, Prosper JY, Campbell K, Sutherland DR, Metcalfe P, Horsfall W, Ouwehand WH.
Blood. 2002 Mar 1;99(5):1692-8.
PMID 11861285
 
Characterization and localization of the Gova/b alloantigens to the glycosylphosphatidylinositol-anchored protein CDw109 on human platelets.
Smith JW, Hayward CP, Horsewood P, Warkentin TE, Denomme GA, Kelton JG.
Blood. 1995 Oct 1;86(7):2807-14.
PMID 7670116
 
Identification of a cell-surface antigen associated with activated T lymphoblasts and activated platelets.
Sutherland DR, Yeo E, Ryan A, Mills GB, Bailey D, Baker MA.
Blood. 1991 Jan 1;77(1):84-93.
PMID 1984805
 
CD109 expression in squamous cell carcinoma of the uterine cervix.
Zhang JM, Hashimoto M, Kawai K, Murakumo Y, Sato T, Ichihara M, Nakamura S, Takahashi M.
Pathol Int. 2005 Apr;55(4):165-9.
PMID 15826242
 

Citation

This paper should be referenced as such :
Mii, S ; Murakumo, Y ; Takahashi, M
CD109 (CD109 molecule)
Atlas Genet Cytogenet Oncol Haematol. 2012;16(1):34-36.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/CD109ID42925ch6q13.html


External links

Nomenclature
HGNC (Hugo)CD109   21685
LRG (Locus Reference Genomic)LRG_1002
Cards
AtlasCD109ID42925ch6q13
Entrez_Gene (NCBI)CD109  135228  CD109 molecule
AliasesCPAMD7; p180; r150
GeneCards (Weizmann)CD109
Ensembl hg19 (Hinxton)ENSG00000156535 [Gene_View]  chr6:74405808-74538041 [Contig_View]  CD109 [Vega]
Ensembl hg38 (Hinxton)ENSG00000156535 [Gene_View]  chr6:74405808-74538041 [Contig_View]  CD109 [Vega]
ICGC DataPortalENSG00000156535
TCGA cBioPortalCD109
AceView (NCBI)CD109
Genatlas (Paris)CD109
WikiGenes135228
SOURCE (Princeton)CD109
Genetics Home Reference (NIH)CD109
Genomic and cartography
GoldenPath hg19 (UCSC)CD109  -     chr6:74405808-74538041 +  6q14.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CD109  -     6q14.1   [Description]    (hg38-Dec_2013)
EnsemblCD109 - 6q14.1 [CytoView hg19]  CD109 - 6q14.1 [CytoView hg38]
Mapping of homologs : NCBICD109 [Mapview hg19]  CD109 [Mapview hg38]
OMIM608859   
Gene and transcription
Genbank (Entrez)AF410459 AK095888 AK123960 AK130104 AK313636
RefSeq transcript (Entrez)NM_001159587 NM_001159588 NM_133493
RefSeq genomic (Entrez)NC_000006 NC_018917 NG_033971 NT_025741 NW_004929327
Consensus coding sequences : CCDS (NCBI)CD109
Cluster EST : UnigeneHs.399891 [ NCBI ]
CGAP (NCI)Hs.399891
Alternative Splicing GalleryENSG00000156535
Gene ExpressionCD109 [ NCBI-GEO ]   CD109 [ EBI - ARRAY_EXPRESS ]   CD109 [ SEEK ]   CD109 [ MEM ]
Gene Expression Viewer (FireBrowse)CD109 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)135228
GTEX Portal (Tissue expression)CD109
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6YHK3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6YHK3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6YHK3
Splice isoforms : SwissVarQ6YHK3
PhosPhoSitePlusQ6YHK3
Domaine pattern : Prosite (Expaxy)ALPHA_2_MACROGLOBULIN (PS00477)   
Domains : Interpro (EBI)A-macroglobulin_rcpt-bd    A2M_comp    A2M_N    A2M_N_2    Ig_E-set    Macroglobln_a2    MacrogloblnA2_CS    MacrogloblnA2_thiol-ester-bond    Terpenoid_cyclase/PrenylTrfase   
Domain families : Pfam (Sanger)A2M (PF00207)    A2M_comp (PF07678)    A2M_N (PF01835)    A2M_N_2 (PF07703)    A2M_recep (PF07677)    Thiol-ester_cl (PF10569)   
Domain families : Pfam (NCBI)pfam00207    pfam07678    pfam01835    pfam07703    pfam07677    pfam10569   
Conserved Domain (NCBI)CD109
DMDM Disease mutations135228
Blocks (Seattle)CD109
SuperfamilyQ6YHK3
Human Protein AtlasENSG00000156535
Peptide AtlasQ6YHK3
HPRD10590
IPIIPI00152540   IPI00788676   IPI00795327   IPI00795801   
Protein Interaction databases
DIP (DOE-UCLA)Q6YHK3
IntAct (EBI)Q6YHK3
FunCoupENSG00000156535
BioGRIDCD109
STRING (EMBL)CD109
ZODIACCD109
Ontologies - Pathways
QuickGOQ6YHK3
Ontology : AmiGOnegative regulation of protein phosphorylation  hair follicle development  serine-type endopeptidase inhibitor activity  extracellular space  plasma membrane  cell surface  negative regulation of keratinocyte proliferation  negative regulation of endopeptidase activity  negative regulation of transforming growth factor beta receptor signaling pathway  anchored component of membrane  regulation of keratinocyte differentiation  transforming growth factor beta binding  negative regulation of wound healing  osteoclast fusion  
Ontology : EGO-EBInegative regulation of protein phosphorylation  hair follicle development  serine-type endopeptidase inhibitor activity  extracellular space  plasma membrane  cell surface  negative regulation of keratinocyte proliferation  negative regulation of endopeptidase activity  negative regulation of transforming growth factor beta receptor signaling pathway  anchored component of membrane  regulation of keratinocyte differentiation  transforming growth factor beta binding  negative regulation of wound healing  osteoclast fusion  
REACTOMEQ6YHK3 [protein]
REACTOME Pathways114608 [pathway]   163125 [pathway]   
NDEx NetworkCD109
Atlas of Cancer Signalling NetworkCD109
Wikipedia pathwaysCD109
Orthology - Evolution
OrthoDB135228
GeneTree (enSembl)ENSG00000156535
Phylogenetic Trees/Animal Genes : TreeFamCD109
HOVERGENQ6YHK3
HOGENOMQ6YHK3
Homologs : HomoloGeneCD109
Homology/Alignments : Family Browser (UCSC)CD109
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCD109 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CD109
dbVarCD109
ClinVarCD109
1000_GenomesCD109 
Exome Variant ServerCD109
ExAC (Exome Aggregation Consortium)CD109 (select the gene name)
Genetic variants : HAPMAP135228
Genomic Variants (DGV)CD109 [DGVbeta]
DECIPHER (Syndromes)6:74405808-74538041  ENSG00000156535
CONAN: Copy Number AnalysisCD109 
Mutations
ICGC Data PortalCD109 
TCGA Data PortalCD109 
Broad Tumor PortalCD109
OASIS PortalCD109 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCD109  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCD109
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CD109
DgiDB (Drug Gene Interaction Database)CD109
DoCM (Curated mutations)CD109 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CD109 (select a term)
intoGenCD109
NCG5 (London)CD109
Cancer3DCD109(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608859   
Orphanet8692   
MedgenCD109
Genetic Testing Registry CD109
NextProtQ6YHK3 [Medical]
TSGene135228
GENETestsCD109
Huge Navigator CD109 [HugePedia]
snp3D : Map Gene to Disease135228
BioCentury BCIQCD109
ClinGenCD109
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD135228
Chemical/Pharm GKB GenePA134949237
Clinical trialCD109
Miscellaneous
canSAR (ICR)CD109 (select the gene name)
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCD109
EVEXCD109
GoPubMedCD109
iHOPCD109
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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