DCSTAMP (dendrocyte expressed seven transmembrane protein)

Gene

• Entrez ID: 81501
• Gene name: Dendrocyte expressed seven transmembrane protein
• Gene symbol: DCSTAMP
• Synonyms (NCBI Gene): FIND, TM7SF4, hDC-STAMP
• Chromosome: 8
• Chromosome location: 8q22.3
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018900	hsa-miR-335-5p	Microarray	18185580
MIRT030239	hsa-miR-26b-5p	Microarray	19088304
MIRT053788	hsa-miR-452-5p	Microarray, qRT-PCR	22952876

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	20546900
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	15601667, 20546900
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	11169400
GO:0009986	Component	Cell surface	IEA
GO:0010008	Component	Endosome membrane	IEA
GO:0010008	Component	Endosome membrane	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11169400
GO:0030154	Process	Cell differentiation	IEA
GO:0030308	Process	Negative regulation of cell growth	IEA
GO:0030308	Process	Negative regulation of cell growth	ISS
GO:0030316	Process	Osteoclast differentiation	IEA
GO:0030316	Process	Osteoclast differentiation	ISS
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	IEA
GO:0034241	Process	Positive regulation of macrophage fusion	IEA
GO:0034241	Process	Positive regulation of macrophage fusion	ISS
GO:0036006	Process	Cellular response to macrophage colony-stimulating factor stimulus	IEA
GO:0036006	Process	Cellular response to macrophage colony-stimulating factor stimulus	ISS
GO:0043011	Process	Myeloid dendritic cell differentiation	IEA
GO:0043011	Process	Myeloid dendritic cell differentiation	ISS
GO:0045657	Process	Positive regulation of monocyte differentiation	IEA
GO:0045657	Process	Positive regulation of monocyte differentiation	ISS
GO:0045780	Process	Positive regulation of bone resorption	IEA
GO:0045780	Process	Positive regulation of bone resorption	ISS
GO:0061025	Process	Membrane fusion	IEA
GO:0061025	Process	Membrane fusion	ISS
GO:0071353	Process	Cellular response to interleukin-4	IDA	15601667
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	ISS
GO:0072675	Process	Osteoclast fusion	IEA
GO:0072675	Process	Osteoclast fusion	ISS

Other IDs

• MIM: 605933
• HGNC: 18549
• e!Ensembl: ENSG00000164935

Protein

• UniProt ID: Q9H295
• Protein name: Dendritic cell-specific transmembrane protein (DC-STAMP) (hDC-STAMP) (Dendrocyte-expressed seven transmembrane protein) (IL-four-induced protein) (FIND) (Transmembrane 7 superfamily member 4)
• Protein function: Probable cell surface receptor that plays several roles in cellular fusion, cell differentiation, bone and immune homeostasis. Plays a role in TNFSF11-mediated osteoclastogenesis. Cooperates with OCSTAMP in modulating cell-cell fusion in both os
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07782	DC_STAMP	242 → 421	DC-STAMP-like protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Preferentially expressed by dendritic cells (DCs). Detected in both immature and mature DCs. Highly expressed in lymph nodes, lung, kidney and liver. Expressed at lower levels in pancreas, bone marrow, spleen, leukocytes, in freshly is
• Sequence:

  MGIWTSGTDIFLSLWEIYVSPRSPGWMDFIQHLGVCCLVALISVGLLSVAACWFLPSIIA
  AAASWIITCVLLCCSKHARCFILLVFLSCGLREGRNALIAAGTGIVILGHVENIFHNFKG
  LLDGMTCNLRAKSFSIHFPLLKKYIEAIQWIYGLATPLSVFDDLVSWNQTLAVSLFSPSH
  VLEAQLNDSKGEVLSVLYQMATTTEVLSSLGQKLLAFAGLSLVLLGTGLFMKRFLGPCGW
  KYENIYITRQFVQFDERERHQQRPCVLPLNKEERRKYVIIPTFWPTPKERKNLGLFFLPI
  LIHLCIWVLFAAVDYLLYRLIFSVSKQFQSLPGFEVHLKLHGEKQGTQDIIHDSSFNISV
  FEPNCIPKPKFLLSETWVPLSVILLILVMLGLLSSILMQLKILVSASFYPSVERKRIQYL
  HAKLLKKRSKQPLGEVKRRLSLYLTKIHFWLPVLKMIRKKQMDMASADKS

• Sequence length: 470

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	26636523	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28849122		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	17729302		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	20864642		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	20864642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperphosphatasemia with bone disease	Hyperphosphatasemia With Bone Disease	BEFREE	25891874		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28849122		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28849122		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	GWASDB_DG	20436471, 21623375		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	20839008, 21623375, 28524179, 29145829, 30705363		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	GWASCAT_DG	21623375		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	CTD_human_DG	21623375		★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	25151085		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	30439432		★☆☆☆☆ Found in Text Mining only
Paget Disease	Paget disease	GWASDB_DG	20436471, 21623375		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	19259350		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	28199142		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	32374812	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	21179278, 26636523	Associate	★☆☆☆☆ Found in Text Mining only