Human Gene CD109 (ENST00000287097.6) from GENCODE V44
  Description: Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA. (from RefSeq NM_133493)
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].
Gencode Transcript: ENST00000287097.6
Gencode Gene: ENSG00000156535.15
Transcript (Including UTRs)
   Position: hg38 chr6:73,696,203-73,828,313 Size: 132,111 Total Exon Count: 33 Strand: +
Coding Region
   Position: hg38 chr6:73,696,216-73,823,633 Size: 127,418 Coding Exon Count: 33 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:73,696,203-73,828,313)mRNA (may differ from genome)Protein (1445 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CD109_HUMAN
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;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 34.28 RPKM in Cells - Cultured 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
3' UTR -1239.304680-0.265 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
PF07678 - A-macroglobulin complement component
PF01835 - MG2 domain
PF07703 - Alpha-2-macroglobulin family N-terminal region
PF07677 - A-macroglobulin receptor
PF10569 - Alpha-macro-globulin thiol-ester bond-forming region

ModBase Predicted Comparative 3D Structure on Q6YHK3
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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
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  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.
MA444136 - JP 2018138019-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.
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.
LF212292 - JP 2014500723-A/19795: Polycomb-Associated Non-Coding RNAs.
MA447869 - JP 2018138019-A/19795: Polycomb-Associated Non-Coding RNAs.
LF377835 - JP 2014500723-A/185338: 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.
MA613415 - JP 2018138019-A/185341: Polycomb-Associated Non-Coding RNAs.
LF377839 - JP 2014500723-A/185342: Polycomb-Associated Non-Coding RNAs.
MA613416 - JP 2018138019-A/185342: Polycomb-Associated Non-Coding RNAs.
LF377842 - JP 2014500723-A/185345: Polycomb-Associated Non-Coding RNAs.
MA613419 - JP 2018138019-A/185345: Polycomb-Associated Non-Coding RNAs.
LF377843 - JP 2014500723-A/185346: Polycomb-Associated Non-Coding RNAs.
MA613420 - JP 2018138019-A/185346: Polycomb-Associated Non-Coding RNAs.
LF377844 - JP 2014500723-A/185347: Polycomb-Associated Non-Coding RNAs.
MA613421 - JP 2018138019-A/185347: Polycomb-Associated Non-Coding RNAs.
LF377845 - JP 2014500723-A/185348: Polycomb-Associated Non-Coding RNAs.
MA613422 - JP 2018138019-A/185348: Polycomb-Associated Non-Coding RNAs.
LF377846 - JP 2014500723-A/185349: Polycomb-Associated Non-Coding RNAs.
MA613423 - JP 2018138019-A/185349: Polycomb-Associated Non-Coding RNAs.
LF377847 - JP 2014500723-A/185350: Polycomb-Associated Non-Coding RNAs.
MA613424 - JP 2018138019-A/185350: Polycomb-Associated Non-Coding RNAs.
LF377848 - JP 2014500723-A/185351: Polycomb-Associated Non-Coding RNAs.
MA613425 - JP 2018138019-A/185351: Polycomb-Associated Non-Coding RNAs.
LF377849 - JP 2014500723-A/185352: Polycomb-Associated Non-Coding RNAs.
MA613426 - JP 2018138019-A/185352: Polycomb-Associated Non-Coding RNAs.
LF377850 - JP 2014500723-A/185353: Polycomb-Associated Non-Coding RNAs.
MA613427 - JP 2018138019-A/185353: Polycomb-Associated Non-Coding RNAs.
LF377851 - JP 2014500723-A/185354: Polycomb-Associated Non-Coding RNAs.
MA613428 - JP 2018138019-A/185354: Polycomb-Associated Non-Coding RNAs.
LF377852 - JP 2014500723-A/185355: Polycomb-Associated Non-Coding RNAs.
MA613429 - JP 2018138019-A/185355: Polycomb-Associated Non-Coding RNAs.
LF377853 - JP 2014500723-A/185356: Polycomb-Associated Non-Coding RNAs.
MA613430 - JP 2018138019-A/185356: Polycomb-Associated Non-Coding RNAs.
LF377854 - JP 2014500723-A/185357: Polycomb-Associated Non-Coding RNAs.
MA613431 - JP 2018138019-A/185357: Polycomb-Associated Non-Coding RNAs.
LF377855 - JP 2014500723-A/185358: Polycomb-Associated Non-Coding RNAs.
MA613432 - JP 2018138019-A/185358: Polycomb-Associated Non-Coding RNAs.
LF377857 - JP 2014500723-A/185360: Polycomb-Associated Non-Coding RNAs.
MA613434 - JP 2018138019-A/185360: Polycomb-Associated Non-Coding RNAs.
LF377858 - JP 2014500723-A/185361: Polycomb-Associated Non-Coding RNAs.
MA613435 - JP 2018138019-A/185361: Polycomb-Associated Non-Coding RNAs.
LF377860 - JP 2014500723-A/185363: Polycomb-Associated Non-Coding RNAs.
MA613437 - JP 2018138019-A/185363: Polycomb-Associated Non-Coding RNAs.
LF377861 - JP 2014500723-A/185364: Polycomb-Associated Non-Coding RNAs.
MA613438 - JP 2018138019-A/185364: Polycomb-Associated Non-Coding RNAs.
LF377862 - JP 2014500723-A/185365: Polycomb-Associated Non-Coding RNAs.
MA613439 - JP 2018138019-A/185365: Polycomb-Associated Non-Coding RNAs.
LF377863 - JP 2014500723-A/185366: Polycomb-Associated Non-Coding RNAs.
MA613440 - JP 2018138019-A/185366: Polycomb-Associated Non-Coding RNAs.
LF377864 - JP 2014500723-A/185367: Polycomb-Associated Non-Coding RNAs.
MA613441 - JP 2018138019-A/185367: Polycomb-Associated Non-Coding RNAs.
JD300485 - Sequence 281509 from Patent EP1572962.
LF377865 - JP 2014500723-A/185368: Polycomb-Associated Non-Coding RNAs.
MA613442 - JP 2018138019-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.
JD466689 - Sequence 447713 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.
MA613443 - JP 2018138019-A/185369: Polycomb-Associated Non-Coding RNAs.
JD130007 - Sequence 111031 from Patent EP1572962.
LF377867 - JP 2014500723-A/185370: Polycomb-Associated Non-Coding RNAs.
MA613444 - JP 2018138019-A/185370: Polycomb-Associated Non-Coding RNAs.
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.
JD488594 - Sequence 469618 from Patent EP1572962.
JD155914 - Sequence 136938 from Patent EP1572962.
JD534849 - Sequence 515873 from Patent EP1572962.
JD517780 - Sequence 498804 from Patent EP1572962.
JD105996 - Sequence 87020 from Patent EP1572962.
AL110152 - Homo sapiens mRNA; cDNA DKFZp586E1624 (from clone DKFZp586E1624).

-  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, ENST00000287097.1, ENST00000287097.2, ENST00000287097.3, ENST00000287097.4, ENST00000287097.5, NM_133493, Q0P6K7, Q5SYA8, Q5XUM7, Q5XUM9, Q6MZI7, Q6YHK3, Q8N3A7, Q8N915, Q8TDJ2, Q8TDJ3, uc003php.1, uc003php.2, uc003php.3, uc003php.4, uc003php.5
UCSC ID: ENST00000287097.6
RefSeq Accession: NM_133493
Protein: Q6YHK3 (aka CD109_HUMAN)
CCDS: CCDS4982.1, CCDS55038.1

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