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    CD109 CD109 molecule [ Homo sapiens (human) ]

    Gene ID: 135228, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CD109provided by HGNC
    Official Full Name
    CD109 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:21685
    See related
    Ensembl:ENSG00000156535 MIM:608859; AllianceGenome:HGNC:21685
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    p180; r150; CPAMD7
    Summary
    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]
    Expression
    Broad expression in skin (RPKM 9.8), endometrium (RPKM 7.6) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CD109 in Genome Data Viewer
    Location:
    6q13
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (73679192..73828313)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (74857189..75006336)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (74405926..74538037)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17337 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17336 Neighboring gene EEF1A1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24752 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:74273247-74273796 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:74275447-74275996 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:74285738-74286453 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:74289636-74290835 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:74291165-74292007 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94401 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94402 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94403 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94405 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:74329139-74329367 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:74333473-74333650 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94408 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94412 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94411 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94413 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94414 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94416 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24754 Neighboring gene solute carrier family 17 member 5 Neighboring gene Sharpr-MPRA regulatory region 11313 Neighboring gene ribosomal protein S27 pseudogene 15 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24755 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:74405769-74406483 Neighboring gene MPRA-validated peak5902 silencer Neighboring gene CD109 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 9272 Neighboring gene MPRA-validated peak5903 silencer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:74550244-74550817 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:74560911-74561502 Neighboring gene uncharacterized LOC101928516 Neighboring gene thioredoxin pseudogene 7 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94479 Neighboring gene family with sequence similarity 136 member A pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Human platelet antigen genotyping and expression of CD109 (human platelet antigen 15) mRNA in various human cell types. Hwang SM, et al. Biomed Res Int, 2013. PMID 23509816, Free PMC Article
    2. CD109 promotes the tumorigenic ability and metastatic motility of pancreatic ductal adenocarcinoma cells. Hatsuzawa Y, et al. Pancreatology, 2020 Apr. PMID 32007357
    3. CD109 acts as a gatekeeper of the epithelial trait by suppressing epithelial to mesenchymal transition in squamous cell carcinoma cells in vitro. Zhou S, et al. Sci Rep, 2019 Nov 6. PMID 31695056, Free PMC Article
    4. CD109, a negative regulator of TGF-β signaling, is a putative risk marker in diffuse large B-cell lymphoma. Yokoyama M, et al. Int J Hematol, 2017 May. PMID 28032275
    5. Association of down-regulation of CD109 expression with up-expression of Smad7 in pathogenesis of psoriasis. Liu XX, et al. J Huazhong Univ Sci Technolog Med Sci, 2016 Feb. PMID 26838754

    See all (104) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. H3K27 acetylation activated-CD109 evokes 5-fluorouracil resistance in gastric cancer via the JNK/MAPK signaling pathway.
      Title: H3K27 acetylation activated-CD109 evokes 5-fluorouracil resistance in gastric cancer via the JNK/MAPK signaling pathway.
    2. CD109 Promotes Drug Resistance in A2780 Ovarian Cancer Cells by Regulating the STAT3-NOTCH1 Signaling Axis.
      Title: CD109 Promotes Drug Resistance in A2780 Ovarian Cancer Cells by Regulating the STAT3-NOTCH1 Signaling Axis.
    3. CD109-regulated mechanical properties of endothelial cells.
      Title: CD109-regulated mechanical properties of endothelial cells.
    4. Significance of expression of CD109 in osteosarcoma and its involvement in tumor progression via BMP signaling.
      Title: Significance of expression of CD109 in osteosarcoma and its involvement in tumor progression via BMP signaling.
    5. Placental and plasma early predictive biomarkers for gestational diabetes mellitus.
      Title: Placental and plasma early predictive biomarkers for gestational diabetes mellitus.
    6. CD109 expression in tumor cells and stroma correlates with progression and prognosis in pancreatic cancer.
      Title: CD109 expression in tumor cells and stroma correlates with progression and prognosis in pancreatic cancer.
    7. The Significance of CD109 Expression in Oropharyngeal Squamous Cell Carcinoma.
      Title: The Significance of CD109 Expression in Oropharyngeal Squamous Cell Carcinoma.
    8. The GPI-anchored protein CD109 protects hematopoietic progenitor cells from undergoing erythroid differentiation induced by TGF-beta.
      Title: The GPI-anchored protein CD109 protects hematopoietic progenitor cells from undergoing erythroid differentiation induced by TGF-β.
    9. Single-cell analysis pinpoints distinct populations of cytotoxic CD4(+) T cells and an IL-10(+)CD109(+) TH2 cell population in nasal polyps.
      Title: Single-cell analysis pinpoints distinct populations of cytotoxic CD4(+) T cells and an IL-10(+)CD109(+) T(H)2 cell population in nasal polyps.
    10. CD109-GP130 interaction drives glioblastoma stem cell plasticity and chemoresistance through STAT3 activity.
      Title: CD109-GP130 interaction drives glioblastoma stem cell plasticity and chemoresistance through STAT3 activity.
    Submit: New GeneRIF Correction See all GeneRIFs (58)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Both HIV-1 Nef and Vpu downregulate the cell surface expression of CD109 PubMed
    Vpu vpu Both HIV-1 Nef and Vpu downregulate the cell surface expression of CD109 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38569, FLJ41966, DKFZp762L1111

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables serine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in hair follicle development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in keratinocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of keratinocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of wound healing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in osteoclast fusion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cell surface HDA PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in platelet alpha granule membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in side of membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    CD109 antigen
    Names
    150 kDa TGF-beta-1-binding protein
    C3 and PZP-like alpha-2-macroglobulin domain-containing protein 7
    Gov platelet alloantigens
    activated T-cell marker CD109
    platelet-specific Gov antigen

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033971.1 RefSeqGene

      Range
      5419..137529
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1002

    mRNA and Protein(s)

    1. NM_001159587.3 → NP_001153059.1  CD109 antigen isoform 2 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AF410459, AK095888, AK130104, AL834478, AY788891, BM722643, BX107999, BX646244, CB529476, CB853216
      Consensus CDS
      CCDS55038.1
      UniProtKB/Swiss-Prot
      Q6YHK3
      Related
      ENSP00000388062.2, ENST00000437994.6
      Conserved Domains (6) summary
      COG2373
      Location:66 → 1000
      YfaS; Uncharacterized conserved protein YfaS, alpha-2-macroglobulin family [General function prediction only]
      cd02897
      Location:907 → 1194
      A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
      pfam00207
      Location:693 → 784
      A2M; Alpha-2-macroglobulin family
      pfam07677
      Location:1292 → 1379
      A2M_recep; A-macroglobulin receptor
      pfam07703
      Location:468 → 599
      A2M_N_2; Alpha-2-macroglobulin family N-terminal region
      pfam17791
      Location:223 → 301
      MG3; Macroglobulin domain MG3

    2. NM_001159588.3 → NP_001153060.1  CD109 antigen isoform 3 preproprotein

      See identical proteins and their annotated locations for NP_001153060.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AK130104, AL834478, BM722643, BX107999, BX641095, BX646244, CB529476, CB853216
      Consensus CDS
      CCDS55039.1
      UniProtKB/Swiss-Prot
      Q6YHK3
      Related
      ENSP00000404475.2, ENST00000422508.6
      Conserved Domains (6) summary
      cd02897
      Location:830 → 1117
      A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
      pfam00207
      Location:616 → 705
      A2M; Alpha-2-macroglobulin family
      pfam07677
      Location:1234 → 1318
      A2M_recep; A-macroglobulin receptor
      pfam07678
      Location:882 → 1119
      A2M_comp; A-macroglobulin complement component
      pfam07703
      Location:393 → 519
      A2M_N_2; Alpha-2-macroglobulin family N-terminal region
      cl19929
      Location:87 → 144
      A2M_N; MG2 domain

    3. NM_133493.5 → NP_598000.2  CD109 antigen isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_598000.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF410459, AK095888, AK130104, AL834478, BM722643, BX107999, BX646244, CB529476, CB853216
      Consensus CDS
      CCDS4982.1
      UniProtKB/Swiss-Prot
      A5YKK4, B2R948, B3KW25, Q0P6K7, Q5SYA8, Q5XUM7, Q5XUM9, Q6MZI7, Q6YHK3, Q8N3A7, Q8N915, Q8TDJ2, Q8TDJ3
      Related
      ENSP00000287097.4, ENST00000287097.6
      Conserved Domains (7) summary
      COG2373
      Location:66 → 1000
      YfaS; Uncharacterized conserved protein YfaS, alpha-2-macroglobulin family [General function prediction only]
      cd02897
      Location:907 → 1194
      A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
      pfam00207
      Location:693 → 782
      A2M; Alpha-2-macroglobulin family
      pfam01835
      Location:130 → 221
      A2M_N; MG2 domain
      pfam07677
      Location:1311 → 1395
      A2M_recep; A-macroglobulin receptor
      pfam07678
      Location:959 → 1196
      A2M_comp; A-macroglobulin complement component
      pfam07703
      Location:470 → 596
      A2M_N_2; Alpha-2-macroglobulin family N-terminal region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      73679192..73828313
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418211.1 → XP_047274167.1  CD109 antigen isoform X1

    2. XM_047418212.1 → XP_047274168.1  CD109 antigen isoform X2

    3. XM_047418215.1 → XP_047274171.1  CD109 antigen isoform X2

    4. XM_047418213.1 → XP_047274169.1  CD109 antigen isoform X2

    5. XM_047418216.1 → XP_047274172.1  CD109 antigen isoform X2

    6. XM_047418214.1 → XP_047274170.1  CD109 antigen isoform X2

    7. XM_047418217.1 → XP_047274173.1  CD109 antigen isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      74857189..75006336
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354302.1 → XP_054210277.1  CD109 antigen isoform X1

    2. XM_054354304.1 → XP_054210279.1  CD109 antigen isoform X2

    3. XM_054354303.1 → XP_054210278.1  CD109 antigen isoform X2

    4. XM_054354305.1 → XP_054210280.1  CD109 antigen isoform X2

    5. XM_054354306.1 → XP_054210281.1  CD109 antigen isoform X2

    6. XM_054354307.1 → XP_054210282.1  CD109 antigen isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6YHK3.2 GenPept UniProtKB/Swiss-Prot:Q6YHK3

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