Human Gene CD109 (uc003php.3) Description and Page Index
  Description: Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.
RefSeq Summary (NM_133493): This gene encodes a glycosyl phosphatidylinositol (GPI)-linked glycoprotein that localizes to the surface of platelets, activated T-cells, and endothelial cells. The protein binds to and negatively regulates signalling by transforming growth factor beta (TGF-beta). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014].
Transcript (Including UTRs)
   Position: hg19 chr6:74,405,508-74,538,041 Size: 132,534 Total Exon Count: 33 Strand: +
Coding Region
   Position: hg19 chr6:74,405,939-74,533,357 Size: 127,419 Coding Exon Count: 33 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr6:74,405,508-74,538,041)mRNA (may differ from genome)Protein (1445 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
OMIMPubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=CD109 antigen; AltName: Full=150 kDa TGF-beta-1-binding protein; AltName: Full=C3 and PZP-like alpha-2-macroglobulin domain-containing protein 7; AltName: Full=Platelet-specific Gov antigen; AltName: Full=p180; AltName: Full=r150; AltName: CD_antigen=CD109; Flags: Precursor;
FUNCTION: Modulates negatively TGFB1 signaling in keratinocytes.
SUBUNIT: Heterodimer; disulfide-linked. Interacts with TGFB1 and TGFBR1. Forms a heteromeric complex with TGFBR1, TGFBR2 and TGFBR3 in a ligand-independent manner.
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
TISSUE SPECIFICITY: Widely expressed with high level in uterus, aorta, heart, lung, trachea, placenta and in fetal heart, kidney, liver, spleen and lung. Expressed by CD34(+) acute myeloid leukemia cell lines, T-cell lines, activated T-lymphoblasts, endothelial cells and activated platelets. Isoform 5 is expressed in placenta. Isoform 1 is expressed in keratinocytes and placenta.
PTM: N-glycosylated.
PTM: 2 forms of 150 (p150) and 120 kDa (p120) exist due to proteolytic degradation from a 180 kDa form.
POLYMORPHISM: The Gov(b) variant in position 703 defines the Gov alloantigenic determinants.
SIMILARITY: Belongs to the protease inhibitor I39 (alpha-2- macroglobulin) family.
SEQUENCE CAUTION: Sequence=BAG53987.1; Type=Erroneous initiation; Sequence=CAE46045.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAE46045.1; Type=Frameshift; Positions=1282;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CD109
CDC HuGE Published Literature: CD109
Positive Disease Associations: Blood Pressure , Blood Proteins , Body Weight , Cholesterol, HDL , Hip , Iron , Lipids , Platelet Count , Triglycerides
Related Studies:
  1. Blood Pressure
    Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics. [PubMed 17903302]
    These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these analyses.
  2. Blood Proteins
    Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903294]
    Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.
  3. Body Weight
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: CD109
Diseases sorted by gene-association score: fetal and neonatal alloimmune thrombocytopenia* (10), epithelioid sarcoma (7), vulva squamous cell carcinoma (6), uterine body mixed cancer (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 34.28 RPKM in Cells - Transformed fibroblasts
Total median expression: 157.54 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -165.60431-0.384 Picture PostScript Text
3' UTR -1284.524684-0.274 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009048 - A-macroglobulin_rcpt-bd
IPR011626 - A2M_comp
IPR002890 - A2M_N
IPR011625 - A2M_N_2
IPR001599 - Macroglobln_a2
IPR019742 - MacrogloblnA2_CS
IPR019565 - MacrogloblnA2_thiol-ester-bond
IPR008930 - Terpenoid_cyclase/PrenylTrfase

Pfam Domains:
PF00207 - Alpha-2-macroglobulin family
PF01835 - MG2 domain
PF07677 - A-macroglobulin receptor
PF07678 - A-macroglobulin complement component
PF07703 - Alpha-2-macroglobulin family N-terminal region
PF10569 - Alpha-macro-globulin thiol-ester bond-forming region

SCOP Domains:
48239 - Terpenoid cyclases/Protein prenyltransferases
49410 - Alpha-macroglobulin receptor domain

ModBase Predicted Comparative 3D Structure on Q6YHK3
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene Details  Gene DetailsGene DetailsGene Details
Gene Sorter  Gene SorterGene SorterGene Sorter
  Protein SequenceProtein SequenceProtein SequenceProtein Sequence

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004866 endopeptidase inhibitor activity
GO:0004867 serine-type endopeptidase inhibitor activity
GO:0030414 peptidase inhibitor activity
GO:0050431 transforming growth factor beta binding

Biological Process:
GO:0001933 negative regulation of protein phosphorylation
GO:0001942 hair follicle development
GO:0002576 platelet degranulation
GO:0010466 negative regulation of peptidase activity
GO:0010839 negative regulation of keratinocyte proliferation
GO:0010951 negative regulation of endopeptidase activity
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
GO:0045616 regulation of keratinocyte differentiation
GO:0061045 negative regulation of wound healing
GO:0072675 osteoclast fusion

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0031092 platelet alpha granule membrane
GO:0031225 anchored component of membrane

-  Descriptions from all associated GenBank mRNAs
  LF208559 - JP 2014500723-A/16062: Polycomb-Associated Non-Coding RNAs.
AF410459 - Homo sapiens CD109 (CD109) mRNA, complete cds.
AK313636 - Homo sapiens cDNA, FLJ94208, highly similar to Homo sapiens CD109 antigen (Gov platelet alloantigens) (CD109), mRNA.
AK095888 - Homo sapiens cDNA FLJ38569 fis, clone HCHON2006459.
EF553520 - Homo sapiens clone DKFZp686C02145 CD109 (CD109) mRNA, complete cds.
AY788891 - Homo sapiens CD109 mRNA, complete cds.
BX641095 - Homo sapiens mRNA; cDNA DKFZp686N23150 (from clone DKFZp686N23150).
BC148364 - Synthetic construct Homo sapiens clone IMAGE:100015282, MGC:182967 CD109 molecule (CD109) mRNA, encodes complete protein.
BC152996 - Synthetic construct Homo sapiens clone IMAGE:100016301, MGC:184247 CD109 molecule (CD109) mRNA, encodes complete protein.
AY149920 - Homo sapiens activated T-cell marker CD109 (CD109) mRNA, complete cds.
MA444136 - JP 2018138019-A/16062: Polycomb-Associated Non-Coding RNAs.
LF212292 - JP 2014500723-A/19795: Polycomb-Associated Non-Coding RNAs.
JD446731 - Sequence 427755 from Patent EP1572962.
LF377835 - JP 2014500723-A/185338: Polycomb-Associated Non-Coding RNAs.
MA447869 - JP 2018138019-A/19795: Polycomb-Associated Non-Coding RNAs.
MA613412 - JP 2018138019-A/185338: Polycomb-Associated Non-Coding RNAs.
LF377838 - JP 2014500723-A/185341: Polycomb-Associated Non-Coding RNAs.
LF377839 - JP 2014500723-A/185342: Polycomb-Associated Non-Coding RNAs.
LF377842 - JP 2014500723-A/185345: Polycomb-Associated Non-Coding RNAs.
LF377843 - JP 2014500723-A/185346: Polycomb-Associated Non-Coding RNAs.
LF377844 - JP 2014500723-A/185347: Polycomb-Associated Non-Coding RNAs.
LF377845 - JP 2014500723-A/185348: Polycomb-Associated Non-Coding RNAs.
LF377846 - JP 2014500723-A/185349: Polycomb-Associated Non-Coding RNAs.
LF377847 - JP 2014500723-A/185350: Polycomb-Associated Non-Coding RNAs.
AL834478 - Homo sapiens mRNA; cDNA DKFZp762L1111 (from clone DKFZp762L1111).
AK123960 - Homo sapiens cDNA FLJ41966 fis, clone PUAEN2009174, highly similar to Homo sapiens CD109 antigen (Gov platelet alloantigens) (CD109), mRNA.
LF377848 - JP 2014500723-A/185351: Polycomb-Associated Non-Coding RNAs.
LF377849 - JP 2014500723-A/185352: Polycomb-Associated Non-Coding RNAs.
LF377850 - JP 2014500723-A/185353: Polycomb-Associated Non-Coding RNAs.
LF377851 - JP 2014500723-A/185354: Polycomb-Associated Non-Coding RNAs.
LF377852 - JP 2014500723-A/185355: Polycomb-Associated Non-Coding RNAs.
LF377853 - JP 2014500723-A/185356: Polycomb-Associated Non-Coding RNAs.
LF377854 - JP 2014500723-A/185357: Polycomb-Associated Non-Coding RNAs.
LF377855 - JP 2014500723-A/185358: Polycomb-Associated Non-Coding RNAs.
LF377857 - JP 2014500723-A/185360: Polycomb-Associated Non-Coding RNAs.
LF377858 - JP 2014500723-A/185361: Polycomb-Associated Non-Coding RNAs.
LF377860 - JP 2014500723-A/185363: Polycomb-Associated Non-Coding RNAs.
LF377861 - JP 2014500723-A/185364: Polycomb-Associated Non-Coding RNAs.
LF377862 - JP 2014500723-A/185365: Polycomb-Associated Non-Coding RNAs.
LF377863 - JP 2014500723-A/185366: Polycomb-Associated Non-Coding RNAs.
LF377864 - JP 2014500723-A/185367: Polycomb-Associated Non-Coding RNAs.
JD300485 - Sequence 281509 from Patent EP1572962.
LF377865 - JP 2014500723-A/185368: Polycomb-Associated Non-Coding RNAs.
JD168123 - Sequence 149147 from Patent EP1572962.
JD349381 - Sequence 330405 from Patent EP1572962.
JD469588 - Sequence 450612 from Patent EP1572962.
JD440021 - Sequence 421045 from Patent EP1572962.
JD327990 - Sequence 309014 from Patent EP1572962.
JD471377 - Sequence 452401 from Patent EP1572962.
JD250917 - Sequence 231941 from Patent EP1572962.
JD130647 - Sequence 111671 from Patent EP1572962.
JD336130 - Sequence 317154 from Patent EP1572962.
JD121623 - Sequence 102647 from Patent EP1572962.
JD262868 - Sequence 243892 from Patent EP1572962.
JD488558 - Sequence 469582 from Patent EP1572962.
JD124528 - Sequence 105552 from Patent EP1572962.
JD286263 - Sequence 267287 from Patent EP1572962.
JD433096 - Sequence 414120 from Patent EP1572962.
JD228540 - Sequence 209564 from Patent EP1572962.
JD121446 - Sequence 102470 from Patent EP1572962.
JD288101 - Sequence 269125 from Patent EP1572962.
JD492415 - Sequence 473439 from Patent EP1572962.
JD368220 - Sequence 349244 from Patent EP1572962.
JD094547 - Sequence 75571 from Patent EP1572962.
JD078268 - Sequence 59292 from Patent EP1572962.
JD491102 - Sequence 472126 from Patent EP1572962.
JD037804 - Sequence 18828 from Patent EP1572962.
LF377866 - JP 2014500723-A/185369: Polycomb-Associated Non-Coding RNAs.
JD130007 - Sequence 111031 from Patent EP1572962.
LF377867 - JP 2014500723-A/185370: Polycomb-Associated Non-Coding RNAs.
JD259994 - Sequence 241018 from Patent EP1572962.
JD262757 - Sequence 243781 from Patent EP1572962.
JD208485 - Sequence 189509 from Patent EP1572962.
AK130104 - Homo sapiens cDNA FLJ26594 fis, clone LNF08373.
AY374442 - Homo sapiens hepatocellular carcinoma HEPG2 mRNA sequence.
AY374441 - Homo sapiens hepatocellular carcinoma HCP mRNA sequence.
AL110152 - Homo sapiens mRNA; cDNA DKFZp586E1624 (from clone DKFZp586E1624).
MA613415 - JP 2018138019-A/185341: Polycomb-Associated Non-Coding RNAs.
MA613416 - JP 2018138019-A/185342: Polycomb-Associated Non-Coding RNAs.
MA613419 - JP 2018138019-A/185345: Polycomb-Associated Non-Coding RNAs.
MA613420 - JP 2018138019-A/185346: Polycomb-Associated Non-Coding RNAs.
MA613421 - JP 2018138019-A/185347: Polycomb-Associated Non-Coding RNAs.
MA613422 - JP 2018138019-A/185348: Polycomb-Associated Non-Coding RNAs.
MA613423 - JP 2018138019-A/185349: Polycomb-Associated Non-Coding RNAs.
MA613424 - JP 2018138019-A/185350: Polycomb-Associated Non-Coding RNAs.
MA613425 - JP 2018138019-A/185351: Polycomb-Associated Non-Coding RNAs.
MA613426 - JP 2018138019-A/185352: Polycomb-Associated Non-Coding RNAs.
MA613427 - JP 2018138019-A/185353: Polycomb-Associated Non-Coding RNAs.
MA613428 - JP 2018138019-A/185354: Polycomb-Associated Non-Coding RNAs.
MA613429 - JP 2018138019-A/185355: Polycomb-Associated Non-Coding RNAs.
MA613430 - JP 2018138019-A/185356: Polycomb-Associated Non-Coding RNAs.
MA613431 - JP 2018138019-A/185357: Polycomb-Associated Non-Coding RNAs.
MA613432 - JP 2018138019-A/185358: Polycomb-Associated Non-Coding RNAs.
MA613434 - JP 2018138019-A/185360: Polycomb-Associated Non-Coding RNAs.
MA613435 - JP 2018138019-A/185361: Polycomb-Associated Non-Coding RNAs.
MA613437 - JP 2018138019-A/185363: Polycomb-Associated Non-Coding RNAs.
MA613438 - JP 2018138019-A/185364: Polycomb-Associated Non-Coding RNAs.
MA613439 - JP 2018138019-A/185365: Polycomb-Associated Non-Coding RNAs.
MA613440 - JP 2018138019-A/185366: Polycomb-Associated Non-Coding RNAs.
MA613441 - JP 2018138019-A/185367: Polycomb-Associated Non-Coding RNAs.
MA613442 - JP 2018138019-A/185368: Polycomb-Associated Non-Coding RNAs.
MA613443 - JP 2018138019-A/185369: Polycomb-Associated Non-Coding RNAs.
MA613444 - JP 2018138019-A/185370: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q6YHK3 (Reactome details) participates in the following event(s):

R-HSA-481044 Surface deployment of platelet alpha granule membrane components
R-HSA-8940388 GPLD1 hydrolyses GPI-anchors from proteins
R-HSA-114608 Platelet degranulation
R-HSA-163125 Post-translational modification: synthesis of GPI-anchored proteins
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
R-HSA-597592 Post-translational protein modification
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-392499 Metabolism of proteins
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: A5YKK4, B2R948, B3KW25, CD109_HUMAN, CPAMD7, NM_133493, NP_598000, Q0P6K7, Q5SYA8, Q5XUM7, Q5XUM9, Q6MZI7, Q6YHK3, Q8N3A7, Q8N915, Q8TDJ2, Q8TDJ3
UCSC ID: uc003php.3
RefSeq Accession: NM_133493
Protein: Q6YHK3 (aka CD109_HUMAN)
CCDS: CCDS4982.1, CCDS55038.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_133493.3
exon count: 33CDS single in 3' UTR: no RNA size: 9464
ORF size: 4338CDS single in intron: no Alignment % ID: 99.96
txCdsPredict score: 8663.00frame shift in genome: no % Coverage: 99.82
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.