OCSTAMP

Summary

OCSTAMP (osteoclast stimulatory transmembrane protein, HGNC:16116) is a protein-coding gene on chromosome 20q13.12, encoding Osteoclast stimulatory transmembrane protein (Q9BR26). Probable cell surface receptor that plays a role in cellular fusion and cell differentiation.

The protein encoded by this gene is orthologous to the mouse osteoclast stimulatory transmembrane protein (OCSTAMP), which is a membrane-anchored cell surface receptor that promotes nucleation of osteoclasts. The mouse protein is also involved in bone resorption and osteoclast differentiation.

Source: NCBI Gene 128506 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 86 total
• MANE Select transcript: NM_080721

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16116
Approved symbol	OCSTAMP
Name	osteoclast stimulatory transmembrane protein
Location	20q13.12
Locus type	gene with protein product
Status	Approved
Aliases	dJ257E24.3
Ensembl gene	ENSG00000149635
Ensembl biotype	protein_coding
OMIM	620432
Entrez	128506

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000279028

RefSeq mRNA: 1 — MANE Select: NM_080721 NM_080721

CCDS: CCDS54468

Canonical transcript exons

ENST00000279028 — 3 exons

Exon	Start	End
ENSE00000991715	46545327	46546329
ENSE00000991716	46540946	46541927
ENSE00001703184	46550517	46550654

Expression profiles

Bgee: expression breadth tissue_specific, 6 present calls, max score 44.35.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.4920 / max 172.1297, expressed in 111 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
187571	1.4920	111

Top tissues by expression

117 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	44.35	gold quality
sural nerve	UBERON:0015488	37.66	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
bone marrow	UBERON:0002371	37.06	gold quality
duodenum	UBERON:0002114	37.00	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
superior frontal gyrus	UBERON:0002661	35.29	gold quality
lymph node	UBERON:0000029	33.85	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
adult mammalian kidney	UBERON:0000082	32.56	silver quality
muscle tissue	UBERON:0002385	32.37	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
kidney	UBERON:0002113	32.03	silver quality
mucosa of stomach	UBERON:0001199	32.01	gold quality
liver	UBERON:0002107	30.44	gold quality
adrenal tissue	UBERON:0018303	30.09	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
vermiform appendix	UBERON:0001154	29.26	gold quality
substantia nigra	UBERON:0002038	29.15	silver quality
islet of Langerhans	UBERON:0000006	29.07	gold quality
monocyte	CL:0000576	28.57	gold quality
leukocyte	CL:0000738	28.48	gold quality
smooth muscle tissue	UBERON:0001135	28.38	silver quality
metanephros cortex	UBERON:0010533	27.93	gold quality
Ammon’s horn	UBERON:0001954	27.90	gold quality
placenta	UBERON:0001987	27.54	gold quality
primary visual cortex	UBERON:0002436	27.39	gold quality
blood	UBERON:0000178	26.88	gold quality
Brodmann (1909) area 9	UBERON:0013540	26.87	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.47

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting OCSTAMP, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-1304-5P	98.90	68.58	1054
HSA-MIR-5011-3P	98.63	64.81	638
HSA-MIR-665	97.60	65.64	1781
HSA-MIR-625-3P	97.32	66.55	554
HSA-MIR-2278	97.30	66.19	1130
HSA-MIR-3121-5P	97.30	66.62	1146
HSA-MIR-6082	96.40	70.86	216
HSA-MIR-877-5P	94.62	66.30	710
HSA-MIR-4732-5P	90.07	64.77	412

Literature-anchored findings (GeneRIF, showing 2)

• Results indicte that oc-stamp may play an important role in macrophage polarization and inhibit the M1 pro-inflammatory state. (PMID:28981605)
• Osteoclast stimulatory transmembrane protein (OC-STAMP) is a promising molecular prognostic indicator for multiple myeloma. (PMID:32282962)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ocstamp	ENSDARG00000022139
mus_musculus	Ocstamp	ENSMUSG00000027670
rattus_norvegicus	Ocstamp	ENSRNOG00000019110

Paralogs (3): DCST2 (ENSG00000163354), DCST1 (ENSG00000163357), DCSTAMP (ENSG00000164935)

Protein

Protein identifiers

Osteoclast stimulatory transmembrane protein — Q9BR26 (reviewed: Q9BR26)

All UniProt accessions (1): Q9BR26

UniProt curated annotations — full annotation on UniProt →

Function. Probable cell surface receptor that plays a role in cellular fusion and cell differentiation. Cooperates with DCSTAMP in modulating cell-cell fusion in both osteoclasts and foreign body giant cells (FBGCs). Involved in osteoclast bone resorption. Promotes osteoclast differentiation and may play a role in the multinucleated osteoclast maturation.

Subcellular location. Membrane.

RefSeq proteins (1): NP_542452* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012858	DC_STAMP-like	Domain
IPR051856	CSR-E3_Ligase_Protein	Family

Pfam: PF07782

UniProt features (15 total): topological domain 7, transmembrane region 6, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BR26-F1	74.40	0.34

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 88 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GOBP_RESPONSE_TO_PEPTIDE, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION, GOBP_REGULATION_OF_HEMOPOIESIS, GOBP_LEUKOCYTE_PROLIFERATION, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM3, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION, GOBP_REGULATION_OF_SYNCYTIUM_FORMATION_BY_PLASMA_MEMBRANE_FUSION

GO Biological Process (7): positive regulation of macrophage fusion (GO:0034241), positive regulation of osteoclast differentiation (GO:0045672), cellular response to tumor necrosis factor (GO:0071356), cellular response to estrogen stimulus (GO:0071391), multinuclear osteoclast differentiation (GO:0072674), positive regulation of osteoclast proliferation (GO:0090290), cell differentiation (GO:0030154)

GO Molecular Function (0):

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
osteoclast differentiation	2
macrophage fusion	1
regulation of macrophage fusion	1
positive regulation of syncytium formation by plasma membrane fusion	1
positive regulation of myeloid leukocyte differentiation	1
regulation of osteoclast differentiation	1
response to tumor necrosis factor	1
cellular response to cytokine stimulus	1
cellular response to hormone stimulus	1
response to estrogen	1
osteoclast proliferation	1
positive regulation of leukocyte proliferation	1
regulation of osteoclast proliferation	1
cellular developmental process	1
cellular anatomical structure	1

Protein interactions and networks

STRING

286 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OCSTAMP	DCSTAMP	Q9H295	930
OCSTAMP	ATP6V0D2	Q8N8Y2	774
OCSTAMP	NFATC1	O95644	750
OCSTAMP	CTSK	P43235	738
OCSTAMP	ACP5	P13686	699
OCSTAMP	TNFSF11	O14788	673
OCSTAMP	OSCAR	Q8IYS5	649
OCSTAMP	MMP9	P14780	615
OCSTAMP	CALCR	P30988	536
OCSTAMP	DCST1	Q5T197	485
OCSTAMP	FOS	P01100	478
OCSTAMP	TRAF6	Q9Y4K3	452
OCSTAMP	CLCN7	P51798	444
OCSTAMP	ITGB3	P05106	427
OCSTAMP	CSF1	P09603	408

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0JN53, A0PJX8, A1L1L2, A1L3T7, A4FV45, B0BMG8, E2JF22, G3HQ82, O15360, O43299, O70491, P60330, Q0KL00, Q0V8E7, Q17Q97, Q24JP3, Q3U829, Q49LS3, Q4QR83, Q562E7, Q5ND34, Q5R7B4, Q5T1A1, Q5XG04, Q6NUQ4, Q6PH58, Q6UX68, Q7L4E1, Q7Z412, Q8BGI5, Q8BM55, Q8BSD4, Q8BXV2, Q8C3R1, Q8C7B8, Q8IXR5, Q8K0R6, Q8N6S5, Q8R115, Q8VCA6

Diamond homologs: Q9BR26, Q9D611

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

86 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	77
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

444 predictions. Top by Δscore:

Variant	Effect	Δscore
20:46541924:CCAC:C	acceptor_gain	1.0000
20:46541925:CAC:C	acceptor_gain	1.0000
20:46541925:CACC:C	acceptor_gain	1.0000
20:46541927:CCT:C	acceptor_gain	1.0000
20:46541927:CCTT:C	acceptor_loss	1.0000
20:46541928:CTTGG:C	acceptor_loss	1.0000
20:46541929:T:A	acceptor_loss	1.0000
20:46541929:T:C	acceptor_gain	1.0000
20:46541929:T:TC	acceptor_gain	1.0000
20:46541923:GCCAC:G	acceptor_gain	0.9900
20:46541924:CCACC:C	acceptor_gain	0.9900
20:46541928:C:CC	acceptor_gain	0.9900
20:46545335:TG:T	donor_gain	0.9900
20:46545325:A:AC	donor_gain	0.9800
20:46545326:C:CC	donor_gain	0.9800
20:46545326:CAT:C	donor_gain	0.9800
20:46541928:C:T	acceptor_gain	0.9700
20:46549303:T:C	donor_gain	0.9700
20:46541926:AC:A	acceptor_gain	0.9600
20:46545320:CACT:C	donor_loss	0.9500
20:46545321:ACTTA:A	donor_loss	0.9500
20:46545322:CTTAC:C	donor_loss	0.9500
20:46545323:TTA:T	donor_loss	0.9500
20:46545324:TACAT:T	donor_loss	0.9500
20:46545325:A:T	donor_loss	0.9500
20:46545326:C:CA	donor_loss	0.9500
20:46542663:ATGT:A	donor_gain	0.9400
20:46545332:A:AC	donor_gain	0.9400
20:46545333:C:CC	donor_gain	0.9400
20:46549302:A:AC	donor_gain	0.9400

AlphaMissense

3580 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:46545612:A:C	F254L	0.975
20:46545612:A:T	F254L	0.975
20:46545614:A:G	F254L	0.975
20:46545402:G:C	F324L	0.970
20:46545402:G:T	F324L	0.970
20:46545404:A:G	F324L	0.970
20:46541676:G:C	F433L	0.956
20:46541676:G:T	F433L	0.956
20:46541678:A:G	F433L	0.956
20:46541673:G:C	F434L	0.953
20:46541673:G:T	F434L	0.953
20:46541675:A:G	F434L	0.953
20:46545996:G:C	S126R	0.951
20:46545996:G:T	S126R	0.951
20:46545998:T:G	S126R	0.951
20:46541835:C:A	W380C	0.943
20:46541835:C:G	W380C	0.943
20:46545951:G:C	N141K	0.942
20:46545951:G:T	N141K	0.942
20:46545606:A:C	N256K	0.938
20:46545606:A:T	N256K	0.938
20:46546047:G:C	S109R	0.937
20:46546047:G:T	S109R	0.937
20:46546049:T:G	S109R	0.937
20:46545923:A:G	C151R	0.922
20:46541904:G:C	F357L	0.917
20:46541904:G:T	F357L	0.917
20:46541906:A:G	F357L	0.917
20:46545897:A:C	S159R	0.913
20:46545897:A:T	S159R	0.913

dbSNP variants (sampled 300 via entrez): RS1000137103 (20:46552544 C>G), RS1000173141 (20:46550749 C>T), RS1000203180 (20:46549582 A>T), RS1000356828 (20:46546773 C>A,G), RS1000693130 (20:46545652 G>A,C,T), RS1001219080 (20:46543795 A>G,T), RS1001507774 (20:46547706 A>G), RS1001594246 (20:46544169 T>G), RS1001755140 (20:46549639 A>C), RS1001843150 (20:46546121 CA>C), RS1001954565 (20:46552429 T>C), RS1002104783 (20:46546381 T>A,C,G), RS1002145182 (20:46549967 T>G), RS1002730156 (20:46541554 G>A), RS1003212695 (20:46545554 G>A,T)

Disease associations

OMIM: gene MIM:620432 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST005956_29	Waist-to-hip ratio adjusted for BMI	4.000000e-10
GCST005957_10	Waist-to-hip ratio adjusted for BMI (age <50)	5.000000e-06
GCST005958_17	Waist-to-hip ratio adjusted for BMI (age >50)	3.000000e-06
GCST005962_25	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	1.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aflatoxin B2	increases methylation	1
Resveratrol	affects cotreatment, decreases expression	1
Leflunomide	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cholesterol	increases expression	1
Malathion	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.