DCSTAMP dendrocyte expressed seven transmembrane protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: DCSTAMPprovided by HGNC
Official Full Name: dendrocyte expressed seven transmembrane proteinprovided by HGNC
Primary source: HGNC:HGNC:18549
See related: Ensembl:ENSG00000164935 MIM:605933; AllianceGenome:HGNC:18549
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: FIND; TM7SF4; hDC-STAMP
Summary: This gene encodes a seven-pass transmembrane protein that is primarily expressed in dendritic cells. The encoded protein is involved in a range of immunological functions carried out by dendritic cells. This protein plays a role in osteoclastogenesis and myeloid differentiation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Expression: Biased expression in lung (RPKM 1.3), liver (RPKM 0.2) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q22.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (104339796..104356689)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (105466609..105484210)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (105352024..105368917)

Chromosome 8 - NC_000008.11 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 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?

Upregulation of dendrocyte-expressed seven transmembrane protein is associated with unfavorable outcomes in differentiated thyroid cancer.
Title: Upregulation of dendrocyte-expressed seven transmembrane protein is associated with unfavorable outcomes in differentiated thyroid cancer.
Genetic regulatory mechanisms in human osteoclasts suggest a role for the STMP1 and DCSTAMP genes in Paget's disease of bone.
Title: Genetic regulatory mechanisms in human osteoclasts suggest a role for the STMP1 and DCSTAMP genes in Paget's disease of bone.
TM7SF4 may be involved in the progression of lung cancer.
Title: Downregulation of TM7SF4 inhibits cell proliferation and metastasis of A549 cells through regulating the PI3K/AKT/mTOR signaling pathway.
Our results suggest that the rare genetic variant of TM7SF4 gene, found in our French-Canadian cohort of patients with Paget's disease of bone and which encodes the DC-STAMP protein, increase the number of nuclei per multinucleated cells and affect DC-STAMP expression during osteoclastogenesis in Paget's disease of bone.
Title: Effect of a rare genetic variant of TM7SF4 gene on osteoclasts of patients with Paget's disease of bone.
TM7SF4 plays an essential role in regulating cell cycle progression in breast cancer.
Title: Transmembrane 7 superfamily member 4 regulates cell cycle progression in breast cancer cells.
The EP in TKA differed from EP in aseptically failed THA by lower CCL3 and DC-STAMP mRNA and protein expression. EP of all studied inflammatory and osteoclastogenic molecules were similar in knee and hip OA.
Title: Comparison of periprosthetic tissues in knee and hip joints: differential expression of CCL3 and DC-STAMP in total knee and hip arthroplasty and similar cytokine profiles in primary knee and hip osteoarthritis.
Our findings also suggest that next generation sequencing may help explore the pathogenesis and aid the diagnosis of Juvenile Paget's disease.
Title: Polymorphisms of CSF1 and TM7SF4 genes in a case of mild juvenile Paget's disease found using next-generation sequencing.
Rs62620995 in the TM7SF4 gene was found to have a marginal association with Paget's disease of bone in the French-Canadian population.
Title: Identification of rare genetic variants in novel loci associated with Paget's disease of bone.
DC-STAMP inhibition by RNA interference consequently suppressed fusion and bone resorption of human osteoclasts.
Title: Lentivirus-mediated RNA interference of DC-STAMP expression inhibits the fusion and resorptive activity of human osteoclasts.
An interaction between OS9 and DC-STAMP was confirmed by yeast-2-hybrid analysis and cellular colocalization.ER-to-Golgi translocation of DC-STAMP following TLR stimulation in CHO cells was demonstrated, involving the DC-STAMP/OS9 interaction. The data indicate that OS9 is critically involved in ER-to-Golgi transport of DC-STAMP, and may be important in both myeloid differentiation and cell fusion.
Title: OS9 interacts with DC-STAMP and modulates its intracellular localization in response to TLR ligation.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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
Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DCSTAMP__4680 (e-PCR)
- UniSTS:471413

NoName (e-PCR)
- UniSTS:490190

NoName (e-PCR)
- UniSTS:480467

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to interleukin-4	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to macrophage colony-stimulating factor stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to transforming growth factor beta stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to tumor necrosis factor	ISS Inferred from Sequence or Structural Similarity more info
involved_in membrane fusion	ISS Inferred from Sequence or Structural Similarity more info
involved_in myeloid dendritic cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in osteoclast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in osteoclast fusion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of bone resorption	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of macrophage fusion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of monocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	IEA Inferred from Electronic Annotation more info
located_in endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dendritic cell-specific transmembrane protein

Names: DC-specific transmembrane protein; Dendritic cells (DC)-specific transmembrane protein; IL-4-induced protein; IL-Four (IL-4) induced; IL-Four INDuced; IL-four-induced protein; transmembrane 7 superfamily member 4

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.

mRNA and Protein(s)

NM_001257317.1 → NP_001244246.1 dendritic cell-specific transmembrane protein isoform 2

See identical proteins and their annotated locations for NP_001244246.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the coding region and uses an alternate splice site which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AF277290, AP003471, BC171732, DA154308

Consensus CDS

CCDS59111.1

UniProtKB/Swiss-Prot

Q9H295

Related

ENSP00000480546.1, ENST00000622554.1

Conserved Domains (1) summary

pfam07782
Location:242 → 278

DC_STAMP; DC-STAMP-like protein
NM_030788.4 → NP_110415.1 dendritic cell-specific transmembrane protein isoform 1

See identical proteins and their annotated locations for NP_110415.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AF277290, AP003471, BC069349

Consensus CDS

CCDS6301.1

UniProtKB/Swiss-Prot

B7ZVW2, E7ESG0, Q2M2D5, Q9H295

UniProtKB/TrEMBL

B3KTD8

Related

ENSP00000297581.2, ENST00000297581.2

Conserved Domains (1) summary

pfam07782
Location:242 → 421

DC_STAMP; DC-STAMP-like protein

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

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

104339796..104356689

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024447288.2 → XP_024303056.1 dendritic cell-specific transmembrane protein isoform X1

UniProtKB/Swiss-Prot

B7ZVW2, E7ESG0, Q2M2D5, Q9H295

UniProtKB/TrEMBL

B3KTD8

Conserved Domains (1) summary

pfam07782
Location:242 → 421

DC_STAMP; DC-STAMP-like protein
XM_024447289.2 → XP_024303057.1 dendritic cell-specific transmembrane protein isoform X2

Conserved Domains (1) summary

pfam07782
Location:242 → 356

DC_STAMP; DC-STAMP-like protein
XM_047422277.1 → XP_047278233.1 dendritic cell-specific transmembrane protein isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

105466609..105484210

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054361300.1 → XP_054217275.1 dendritic cell-specific transmembrane protein isoform X1

UniProtKB/Swiss-Prot

B7ZVW2, E7ESG0, Q2M2D5, Q9H295
XM_054361304.1 → XP_054217279.1 dendritic cell-specific transmembrane protein isoform X3
XM_054361299.1 → XP_054217274.1 dendritic cell-specific transmembrane protein isoform X1

UniProtKB/Swiss-Prot

B7ZVW2, E7ESG0, Q2M2D5, Q9H295
XM_054361302.1 → XP_054217277.1 dendritic cell-specific transmembrane protein isoform X2
XM_054361303.1 → XP_054217278.1 dendritic cell-specific transmembrane protein isoform X2
XM_054361301.1 → XP_054217276.1 dendritic cell-specific transmembrane protein isoform X1

UniProtKB/Swiss-Prot

B7ZVW2, E7ESG0, Q2M2D5, Q9H295