CD109 CD109 molecule [Homo sapiens (human)] - Gene

Summary

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

Location:: 6q13

Exon count:: 38

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (73679192..73828313)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (74857189..75006336)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (74405926..74538037)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
CD109-regulated mechanical properties of endothelial cells.
Title: CD109-regulated mechanical properties of endothelial cells.
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.
Placental and plasma early predictive biomarkers for gestational diabetes mellitus.
Title: Placental and plasma early predictive biomarkers for gestational diabetes mellitus.
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.
The Significance of CD109 Expression in Oropharyngeal Squamous Cell Carcinoma.
Title: The Significance of CD109 Expression in Oropharyngeal Squamous Cell Carcinoma.
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.
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.
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 EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

SHGC-105259 (e-PCR)
- UniSTS:169258

D8S2279 (e-PCR)
- UniSTS:473907

D6S406 (e-PCR)
- UniSTS:33615

CD109_2883 (e-PCR)
- UniSTS:468321

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-3527 (e-PCR)
- UniSTS:7799

RH92600 (e-PCR)
- UniSTS:90813

G62443 (e-PCR)
- UniSTS:139501

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables serine-type endopeptidase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables transforming growth factor beta binding	IPI Inferred from Physical Interaction more info	PubMed

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 protein phosphorylation	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 more info	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

NG_033971.1 RefSeqGene

Range

5419..137529

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1002

mRNA and Protein(s)

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
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
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