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 2... See more...

Aliases for CD109 Gene

Aliases for CD109 Gene

  • CD109 Molecule 2 3 5
  • C3 And PZP-Like Alpha-2-Macroglobulin Domain-Containing Protein 7 3 4
  • 150 KDa TGF-Beta-1-Binding Protein 3 4
  • Platelet-Specific Gov Antigen 3 4
  • CD109 Antigen 3 4
  • CPAMD7 3 4
  • P180 3 4
  • R150 3 4
  • CD109 Antigen (Gov Platelet Alloantigens) 2
  • Activated T-Cell Marker CD109 3
  • Gov Platelet Alloantigens 3

External Ids for CD109 Gene

Previous GeneCards Identifiers for CD109 Gene

  • GC06P074364
  • GC06P074401
  • GC06P074462
  • GC06P071605

Summaries for CD109 Gene

Entrez Gene Summary for CD109 Gene

  • 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]

GeneCards Summary for CD109 Gene

CD109 (CD109 Molecule) is a Protein Coding gene. Diseases associated with CD109 include Fetal And Neonatal Alloimmune Thrombocytopenia and Gallbladder Squamous Cell Carcinoma. Among its related pathways are Metabolism of proteins and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity and transforming growth factor beta binding. An important paralog of this gene is A2M.

UniProtKB/Swiss-Prot Summary for CD109 Gene

Gene Wiki entry for CD109 Gene

Additional gene information for CD109 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CD109 Gene

Genomics for CD109 Gene

GeneHancer (GH) Regulatory Elements for CD109 Gene

Promoters and enhancers for CD109 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CD109 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CD109

Top Transcription factor binding sites by QIAGEN in the CD109 gene promoter:
  • AP-4
  • c-Myb
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • POU2F1
  • Sox9

Genomic Locations for CD109 Gene

Genomic Locations for CD109 Gene
chr6:73,672,182-73,828,317
(GRCh38/hg38)
Size:
156,136 bases
Orientation:
Plus strand
chr6:74,405,508-74,538,041
(GRCh37/hg19)
Size:
132,534 bases
Orientation:
Plus strand

Genomic View for CD109 Gene

Genes around CD109 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD109 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD109 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD109 Gene

Proteins for CD109 Gene

  • Protein details for CD109 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6YHK3-CD109_HUMAN
    Recommended name:
    CD109 antigen
    Protein Accession:
    Q6YHK3
    Secondary Accessions:
    • A5YKK4
    • B2R948
    • B3KW25
    • Q0P6K7
    • Q5SYA8
    • Q5XUM7
    • Q5XUM9
    • Q6MZI7
    • Q8N3A7
    • Q8N915
    • Q8TDJ2
    • Q8TDJ3

    Protein attributes for CD109 Gene

    Size:
    1445 amino acids
    Molecular mass:
    161689 Da
    Quaternary structure:
    • Heterodimer; disulfide-linked. Interacts with TGFB1 and TGFBR1. Forms a heteromeric complex with TGFBR1, TGFBR2 and TGFBR3 in a ligand-independent manner.
    SequenceCaution:
    • Sequence=BAG53987.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAE46045.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAE46045.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for CD109 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CD109 Gene

Post-translational modifications for CD109 Gene

  • N-glycosylated.
  • 2 forms of 150 (p150) and 120 kDa (p120) exist due to proteolytic degradation from a 180 kDa form.
  • Glycosylation at Asn41, Asn68, Asn118, Asn247, Asn279, Asn287, Asn337, Asn365, Asn419, Asn513, Asn645, Asn1086, and Asn1355
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CD109_HUMAN (795)

Other Protein References for CD109 Gene

No data available for DME Specific Peptides for CD109 Gene

Domains & Families for CD109 Gene

Gene Families for CD109 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for CD109 Gene

Suggested Antigen Peptide Sequences for CD109 Gene

GenScript: Design optimal peptide antigens:
  • r150 (CD109_HUMAN)
  • CD109 antigen (F1C639_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6YHK3

UniProtKB/Swiss-Prot:

CD109_HUMAN :
  • Belongs to the protease inhibitor I39 (alpha-2-macroglobulin) family.
Family:
  • Belongs to the protease inhibitor I39 (alpha-2-macroglobulin) family.
genes like me logo Genes that share domains with CD109: view

Function for CD109 Gene

Molecular function for CD109 Gene

UniProtKB/Swiss-Prot Function:
Modulates negatively TGFB1 signaling in keratinocytes.

Phenotypes From GWAS Catalog for CD109 Gene

Gene Ontology (GO) - Molecular Function for CD109 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004866 endopeptidase inhibitor activity IEA --
GO:0004867 serine-type endopeptidase inhibitor activity IEA --
GO:0030414 peptidase inhibitor activity IEA --
GO:0050431 transforming growth factor beta binding IPI 16754747
genes like me logo Genes that share ontologies with CD109: view
genes like me logo Genes that share phenotypes with CD109: view

Human Phenotype Ontology for CD109 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CD109 Gene

MGI Knock Outs for CD109:
  • Cd109 Cd109<tm1Mat>
  • Cd109 Cd109<tm1.1(KOMP)Vlcg>

Animal Model Products

  • Taconic Biosciences Mouse Models for CD109

CRISPR Products

Clone Products

  • Addgene plasmids for CD109

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CD109 Gene

Localization for CD109 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD109 Gene

Cell membrane; Lipid-anchor, GPI-anchor.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CD109 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytosol 4
mitochondrion 2
endoplasmic reticulum 2
cytoskeleton 1
nucleus 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CD109 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface HDA 19581412
genes like me logo Genes that share ontologies with CD109: view

Pathways & Interactions for CD109 Gene

genes like me logo Genes that share pathways with CD109: view

Gene Ontology (GO) - Biological Process for CD109 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001933 negative regulation of protein phosphorylation IEA --
GO:0001942 hair follicle development IEA --
GO:0002576 platelet degranulation TAS --
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010839 negative regulation of keratinocyte proliferation IEA --
genes like me logo Genes that share ontologies with CD109: view

No data available for SIGNOR curated interactions for CD109 Gene

Drugs & Compounds for CD109 Gene

No Compound Related Data Available

Transcripts for CD109 Gene

mRNA/cDNA for CD109 Gene

3 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for CD109

Alternative Splicing Database (ASD) splice patterns (SP) for CD109 Gene

No ASD Table

Relevant External Links for CD109 Gene

GeneLoc Exon Structure for
CD109

Expression for CD109 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CD109 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CD109 Gene

This gene is overexpressed in Serum (18.7), Liver (13.9), and Hair follicle (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CD109 Gene



Protein tissue co-expression partners for CD109 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CD109

SOURCE GeneReport for Unigene cluster for CD109 Gene:

Hs.399891

mRNA Expression by UniProt/SwissProt for CD109 Gene:

Q6YHK3-CD109_HUMAN
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 4 is expressed in placenta. Isoform 1 is expressed in keratinocytes and placenta.

Evidence on tissue expression from TISSUES for CD109 Gene

  • Blood(4.4)
  • Heart(4.4)
  • Bone marrow(4.2)
  • Intestine(4.2)
  • Liver(4.2)
  • Thyroid gland(2.9)
  • Skin(2)
genes like me logo Genes that share expression patterns with CD109: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CD109 Gene

Orthologs for CD109 Gene

This gene was present in the common ancestor of animals.

Orthologs for CD109 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CD109 31 30
  • 99.35 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CD109 31 30
  • 89.92 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CD109 31 30
  • 87.31 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cd109 17 31 30
  • 79.51 (n)
rat
(Rattus norvegicus)
Mammalia Cd109 30
  • 77.89 (n)
oppossum
(Monodelphis domestica)
Mammalia CD109 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves CD109 31 30
  • 65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CD109 31
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486953 30
  • 59.83 (n)
zebrafish
(Danio rerio)
Actinopterygii cd109 30
  • 50.84 (n)
CD109 31
  • 38 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta TEP15 30
  • 45.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta Tep3 30
  • 42.48 (n)
TepII 31 32
  • 30 (a)
OneToMany
TepI 31 32
  • 29 (a)
OneToMany
TepIII 31 32
  • 27 (a)
OneToMany
TepIV 31 32
  • 26 (a)
OneToMany
Mcr 32
  • 25 (a)
CG13079 31
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tep-1 31 30
  • 46.57 (n)
OneToOne
ZK337.1a 32
  • 31 (a)
ZK337.1b 32
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6169 31
  • 24 (a)
OneToOne
Species where no ortholog for CD109 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CD109 Gene

ENSEMBL:
Gene Tree for CD109 (if available)
TreeFam:
Gene Tree for CD109 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CD109: view image

Paralogs for CD109 Gene

Paralogs for CD109 Gene

genes like me logo Genes that share paralogs with CD109: view

Variants for CD109 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CD109 Gene

CD109_HUMAN-Q6YHK3
The Gov(b) variant in position 703 defines the Gov alloantigenic determinants.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CD109 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs1454572681 A colorectal cancer sample p.Gln1007Glu
rs1562082456 Uncertain Significance: Severe Myopia 73,808,239(+) G/C MISSENSE_VARIANT
VAR_036237 A colorectal cancer sample p.Asn1065Lys
rs10455097 - p.Tyr703Ser
rs13207595 - p.His1296Arg

Additional dbSNP identifiers (rs#s) for CD109 Gene

Structural Variations from Database of Genomic Variants (DGV) for CD109 Gene

Variant ID Type Subtype PubMed ID
dgv6015n100 CNV gain 25217958
esv1316113 CNV deletion 17803354
esv2379909 CNV deletion 18987734
esv2499472 CNV deletion 19546169
esv2732297 CNV deletion 23290073
esv29490 CNV gain 19812545
esv3439259 CNV insertion 20981092
esv3539981 CNV deletion 23714750
esv3576178 CNV gain 25503493
esv3609516 CNV gain 21293372
esv9431 CNV loss 19470904
nsv1074411 CNV deletion 25765185
nsv1114840 CNV deletion 24896259
nsv1137113 CNV deletion 24896259
nsv1146204 CNV deletion 26484159
nsv348528 CNV deletion 16902084
nsv463154 CNV gain 19166990
nsv527906 CNV loss 19592680
nsv528148 CNV loss 19592680
nsv603695 CNV gain 21841781
nsv956541 CNV deletion 24416366

Variation tolerance for CD109 Gene

Residual Variation Intolerance Score: 96.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.46; 91.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CD109 Gene

Human Gene Mutation Database (HGMD)
CD109
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD109

SNP Genotyping and Copy Number Assay Products

Disorders for CD109 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CD109 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
fetal and neonatal alloimmune thrombocytopenia
  • nait
gallbladder squamous cell carcinoma
  • epidermoid gallbladder carcinoma
adenosquamous gallbladder carcinoma
  • adenosquamous carcinoma of gallbladder
epithelioid sarcoma
  • epithelioid cell sarcoma
vulva squamous cell carcinoma
  • squamous cell carcinoma of vulva
- elite association - COSMIC cancer census association via MalaCards
Search CD109 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CD109

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CD109: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CD109 Gene

Publications for CD109 Gene

  1. A tyrosine703serine polymorphism of CD109 defines the Gov platelet alloantigens. (PMID: 11861285) Schuh AC … Ouwehand WH (Blood 2002) 2 3 4 23 54
  2. Cell surface antigen CD109 is a novel member of the alpha(2) macroglobulin/C3, C4, C5 family of thioester-containing proteins. (PMID: 11861284) Lin M … Schuh AC (Blood 2002) 2 3 4 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. Human platelet antigen polymorphisms (HPA-1, -2, -3, -4, -5 and -15) in major ethnic groups of Pakistan. (PMID: 19948007) Bhatti FA … Bugert P (Transfusion medicine (Oxford, England) 2010) 3 41 54
  5. Simultaneous genotyping of human platelet antigen-1 to 17w by polymerase chain reaction sequence-based typing. (PMID: 19570064) Xu X … Yan L (Vox sanguinis 2009) 3 41 54

Products for CD109 Gene

Sources for CD109 Gene