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. [provided by RefSeq, Feb 2017] See more...

Aliases for OCSTAMP Gene

Aliases for OCSTAMP Gene

  • Osteoclast Stimulatory Transmembrane Protein 2 3 4 5
  • C20orf123 3 4
  • OC-STAMP 3 4
  • Chromosome 20 Open Reading Frame 123 2
  • Transmembrane Protein C20orf123 3
  • DJ257E24.3 3

External Ids for OCSTAMP Gene

Previous HGNC Symbols for OCSTAMP Gene

  • C20orf123

Previous GeneCards Identifiers for OCSTAMP Gene

  • GC20M045170

Summaries for OCSTAMP Gene

Entrez Gene Summary for OCSTAMP Gene

  • 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. [provided by RefSeq, Feb 2017]

GeneCards Summary for OCSTAMP Gene

OCSTAMP (Osteoclast Stimulatory Transmembrane Protein) is a Protein Coding gene. Diseases associated with OCSTAMP include Osteopetrosis, Autosomal Recessive 8. An important paralog of this gene is DCST2.

UniProtKB/Swiss-Prot Summary for OCSTAMP Gene

  • 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 (By similarity).

Additional gene information for OCSTAMP Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OCSTAMP Gene

Genomics for OCSTAMP Gene

GeneHancer (GH) Regulatory Elements for OCSTAMP Gene

Promoters and enhancers for OCSTAMP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J046552 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 505.4 -1.9 -1926 2 SP1 EP300 RELA MEF2C RCOR1 TRIM22 POLR2A RBM25 BCL11A TCF12 OCSTAMP SLC13A3 ZNF334 CD40 lnc-SLC2A10-5
GH20J046551 Promoter/Enhancer 0.9 Ensembl dbSUPER 500.7 +0.6 553 1.4 ZNF623 CTCF SPI1 ZFHX2 IKZF1 FOSL2 KDM1A POLR2A JUND OCSTAMP SLC13A3 ZNF334 HSALNG0130491
GH20J046548 Enhancer 0.5 Ensembl dbSUPER 500.7 +2.0 1953 0.2 MAFF MAFK HSALNG0130491 OCSTAMP
GH20J046682 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 10.9 -133.3 -133283 2.4 ZSCAN5C POLR2G USF1 SAP30 REST USF2 TOE1 MYC NFRKB TAF9B SLC13A3 ENSG00000273893 SLC2A10 OCSTAMP TP53RK
GH20J046582 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.5 -33.3 -33347 2.4 FOXK2 USF1 NCOR1 ZIC2 TCF7 TOE1 SKI TEAD1 CTCF HDAC2 OCSTAMP lnc-OCSTAMP-2 lnc-OCSTAMP-1 SLC13A3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OCSTAMP on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OCSTAMP

Genomic Locations for OCSTAMP Gene

Genomic Locations for OCSTAMP Gene
chr20:46,540,946-46,550,654
(GRCh38/hg38)
Size:
9,709 bases
Orientation:
Minus strand
chr20:45,169,585-45,179,213
(GRCh37/hg19)
Size:
9,629 bases
Orientation:
Minus strand

Genomic View for OCSTAMP Gene

Genes around OCSTAMP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OCSTAMP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OCSTAMP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OCSTAMP Gene

Proteins for OCSTAMP Gene

  • Protein details for OCSTAMP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BR26-OCSTP_HUMAN
    Recommended name:
    Osteoclast stimulatory transmembrane protein
    Protein Accession:
    Q9BR26

    Protein attributes for OCSTAMP Gene

    Size:
    566 amino acids
    Molecular mass:
    61579 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AL935075; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for OCSTAMP Gene

Post-translational modifications for OCSTAMP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OCSTAMP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OCSTAMP Gene

Domains & Families for OCSTAMP Gene

Gene Families for OCSTAMP Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for OCSTAMP Gene

Blocks:
  • DC-STAMP-like
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OCSTAMP Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein C20orf123 (CT123_HUMAN)
genes like me logo Genes that share domains with OCSTAMP: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for OCSTAMP Gene

Function for OCSTAMP Gene

Molecular function for OCSTAMP Gene

UniProtKB/Swiss-Prot 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 (By similarity).

Phenotypes From GWAS Catalog for OCSTAMP Gene

genes like me logo Genes that share phenotypes with OCSTAMP: view

Animal Models for OCSTAMP Gene

MGI Knock Outs for OCSTAMP:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for OCSTAMP Gene

Localization for OCSTAMP Gene

Subcellular locations from UniProtKB/Swiss-Prot for OCSTAMP Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OCSTAMP gene
Compartment Confidence
plasma membrane 4
nucleus 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for OCSTAMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with OCSTAMP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OCSTAMP Gene

Pathways & Interactions for OCSTAMP Gene

PathCards logo

SuperPathways for OCSTAMP Gene

No Data Available

Interacting Proteins for OCSTAMP Gene

;

Gene Ontology (GO) - Biological Process for OCSTAMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030154 cell differentiation IEA --
GO:0034241 positive regulation of macrophage fusion IEA --
GO:0045672 positive regulation of osteoclast differentiation IEA,ISS --
GO:0071356 cellular response to tumor necrosis factor IEA,ISS --
GO:0071391 cellular response to estrogen stimulus IEA,ISS --
genes like me logo Genes that share ontologies with OCSTAMP: view

No data available for Pathways by source and SIGNOR curated interactions for OCSTAMP Gene

Drugs & Compounds for OCSTAMP Gene

No Compound Related Data Available

Transcripts for OCSTAMP Gene

mRNA/cDNA for OCSTAMP Gene

1 REFSEQ mRNAs :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for OCSTAMP Gene

No ASD Table

Relevant External Links for OCSTAMP Gene

GeneLoc Exon Structure for
OCSTAMP

Expression for OCSTAMP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OCSTAMP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OCSTAMP Gene

This gene is overexpressed in Testis (x9.0) and Kidney - Cortex (x5.9).

Protein differential expression in normal tissues from HIPED for OCSTAMP Gene

This gene is overexpressed in Pancreatic juice (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for OCSTAMP Gene



Protein tissue co-expression partners for OCSTAMP Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OCSTAMP

SOURCE GeneReport for Unigene cluster for OCSTAMP Gene:

Hs.526636

Evidence on tissue expression from TISSUES for OCSTAMP Gene

  • Bone(2)
genes like me logo Genes that share expression patterns with OCSTAMP: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for OCSTAMP Gene

Orthologs for OCSTAMP Gene

This gene was present in the common ancestor of chordates.

Orthologs for OCSTAMP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OCSTAMP 31 30
  • 98.99 (n)
OneToOne
cow
(Bos Taurus)
Mammalia OCSTAMP 31 30
  • 79.67 (n)
OneToOne
dog
(Canis familiaris)
Mammalia OCSTAMP 31 30
  • 78.31 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zfp334 30
  • 77.08 (n)
mouse
(Mus musculus)
Mammalia Ocstamp 17 31 30
  • 76.99 (n)
oppossum
(Monodelphis domestica)
Mammalia OCSTAMP 31
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves C20H20ORF123 30
  • 50.36 (n)
OCSTAMP 31
  • 33 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OCSTAMP 31
  • 35 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493211 30
  • 47.16 (n)
zebrafish
(Danio rerio)
Actinopterygii ocstamp 31 30
  • 43.45 (n)
OneToOne
Species where no ortholog for OCSTAMP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OCSTAMP Gene

ENSEMBL:
Gene Tree for OCSTAMP (if available)
TreeFam:
Gene Tree for OCSTAMP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OCSTAMP: view image

Paralogs for OCSTAMP Gene

Paralogs for OCSTAMP Gene

genes like me logo Genes that share paralogs with OCSTAMP: view

Variants for OCSTAMP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OCSTAMP Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs847079 - p.Pro565Ser

Additional dbSNP identifiers (rs#s) for OCSTAMP Gene

Structural Variations from Database of Genomic Variants (DGV) for OCSTAMP Gene

Variant ID Type Subtype PubMed ID
nsv1061899 CNV loss 25217958
nsv833994 CNV gain 17160897

Variation tolerance for OCSTAMP Gene

Gene Damage Index Score: 3.75; 57.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OCSTAMP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OCSTAMP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OCSTAMP Gene

Disorders for OCSTAMP Gene

MalaCards: The human disease database

(1) MalaCards diseases for OCSTAMP Gene - From: DISEASES

Disorder Aliases PubMed IDs
osteopetrosis, autosomal recessive 8
  • optb8
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for OCSTAMP

genes like me logo Genes that share disorders with OCSTAMP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OCSTAMP Gene

Publications for OCSTAMP Gene

  1. Osteoclast stimulatory transmembrane protein (OC-STAMP), a novel protein induced by RANKL that promotes osteoclast differentiation. (PMID: 18064667) Yang M … Odgren PR (Journal of cellular physiology 2008) 2 3 54
  2. Osteoclast stimulatory transmembrane protein induces a phenotypic switch in macrophage polarization suppressing an M1 pro-inflammatory state. (PMID: 28981605) Yuan H … Chen F (Acta biochimica et biophysica Sinica 2017) 3 54
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54
  4. The sequence of the human genome. (PMID: 11181995) Venter JC … Zhu X (Science (New York, N.Y.) 2001) 3 54
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 4 54

Products for OCSTAMP Gene

Sources for OCSTAMP Gene