This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This pro... See more...

Aliases for OSTM1 Gene

Aliases for OSTM1 Gene

  • Osteoclastogenesis Associated Transmembrane Protein 1 2 3 5
  • Osteopetrosis-Associated Transmembrane Protein 1 3 4
  • Osteopetrosis Associated Transmembrane Protein 1 2 3
  • Chloride Channel 7 Beta Subunit 3 4
  • CLCN7 Accessory Beta Subunit 2 3
  • GL 3 4
  • GAIP-Interacting Protein N Terminus 3
  • Grey-Lethal Osteopetrosis 3
  • Grey-Lethal 2
  • HSPC019 3
  • OPTB5 3
  • GIPN 3

External Ids for OSTM1 Gene

Previous GeneCards Identifiers for OSTM1 Gene

  • GC06M108364
  • GC06M108409
  • GC06M108470
  • GC06M105930
  • GC06M108363

Summaries for OSTM1 Gene

Entrez Gene Summary for OSTM1 Gene

  • This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008]

GeneCards Summary for OSTM1 Gene

OSTM1 (Osteoclastogenesis Associated Transmembrane Protein 1) is a Protein Coding gene. Diseases associated with OSTM1 include Osteopetrosis, Autosomal Recessive 5 and Infantile Osteopetrosis With Neuroaxonal Dysplasia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport.

UniProtKB/Swiss-Prot Summary for OSTM1 Gene

Gene Wiki entry for OSTM1 Gene

Additional gene information for OSTM1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OSTM1 Gene

Genomics for OSTM1 Gene

GeneHancer (GH) Regulatory Elements for OSTM1 Gene

Promoters and enhancers for OSTM1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J108073 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 762.8 +91.3 91284 2.7 SP1 ZBTB6 RBPJ POLR2A ELF1 L3MBTL2 MNT NKRF GTF2F1 ELF3 OSTM1 LINC00222 ENSG00000238490 RF00017-5715
GH06J108166 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 750.6 -1.0 -1047 2.2 SP1 SP7 PRDM1 ZNF680 ZNF560 GLIS2 ZIC2 ZBTB8A PRDM10 ZNF629 OSTM1 lnc-OSTM1-1 NR2E1 OSTM1-AS1 ENSG00000279398
GH06J108133 Promoter/Enhancer 1.2 ENCODE CraniofacialAtlas 12.6 +31.7 31719 1.5 CTCF HLF TEAD4 ZNF652 SP1 CEBPG SP7 PRDM1 GLIS2 PKNOX1 NR2E1 OSTM1 SEC63 OSTM1-AS1 piR-43107-264 lnc-OSTM1-1
GH06J108127 Enhancer 1.1 Ensembl ENCODE 12.6 +37.8 37753 1 SREBF1 FOXA1 MLX RBPJ TCF7L2 CREB1 ZNF362 MNT RERE ZBTB33 NR2E1 OSTM1 OSTM1-AS1 piR-43107-264 lnc-OSTM1-1
GH06J108348 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.3 -184.2 -184187 4.5 ZNF24 SP1 JUND ETV6 ZNF687 CREM ZBTB33 IKZF1 BACH1 TRIM22 OSTM1 NR2E1 ENSG00000279498 NONHSAG044548.2 piR-38579-038 AFG1L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OSTM1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for OSTM1 Gene

Genomic Locations for OSTM1 Gene
124,446 bases
Minus strand
124,446 bases
Minus strand

Genomic View for OSTM1 Gene

Genes around OSTM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OSTM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OSTM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OSTM1 Gene

Proteins for OSTM1 Gene

  • Protein details for OSTM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Osteopetrosis-associated transmembrane protein 1
    Protein Accession:
    Secondary Accessions:
    • E1P5E3
    • Q5R391
    • Q6PCA7
    • Q7RTW6
    • Q8NC29
    • Q8TC82
    • Q9Y2S9

    Protein attributes for OSTM1 Gene

    334 amino acids
    Molecular mass:
    37257 Da
    Quaternary structure:
    • Chloride channel 7 are heteromers of alpha (CLCN7) and beta (OSTM1) subunits.
    • Sequence=AAD27000.1; Type=Frameshift; Positions=221; Evidence={ECO:0000305};

neXtProt entry for OSTM1 Gene

Post-translational modifications for OSTM1 Gene

  • Undergoes proteolytic cleavage in the luminal domain, the cleaved fragments might be linked by disulfide bonds with the remnant of the protein.
  • Highly N-glycosylated.
  • Glycosylation at Asn93, Asn128, Asn135, Asn163, Asn177, Asn184, Asn194, Asn216, Asn263, and Asn274
  • Ubiquitination at Lys321
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • OSTM1_HUMAN (1589)

Other Protein References for OSTM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OSTM1 Gene

Domains & Families for OSTM1 Gene

Gene Families for OSTM1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for OSTM1 Gene


Suggested Antigen Peptide Sequences for OSTM1 Gene

GenScript: Design optimal peptide antigens:
  • Osteopetrosis associated transmembrane protein 1 (A6ZJA1_HUMAN)
  • Osteopetrosis-associated transmembrane protein 1 (OSTM1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the OSTM1 family.
  • Belongs to the OSTM1 family.
genes like me logo Genes that share domains with OSTM1: view

Function for OSTM1 Gene

Molecular function for OSTM1 Gene

UniProtKB/Swiss-Prot Function:
Required for osteoclast and melanocyte maturation and function.

Phenotypes From GWAS Catalog for OSTM1 Gene

genes like me logo Genes that share phenotypes with OSTM1: view

Human Phenotype Ontology for OSTM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for OSTM1

CRISPR Products

miRNA for OSTM1 Gene

miRTarBase miRNAs that target OSTM1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for OSTM1 Gene

Localization for OSTM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OSTM1 Gene

Lysosome membrane; Single-pass type I membrane protein. Note=Requires CLCN7 to travel to lysosomes.

Subcellular locations from

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 OSTM1 gene
Compartment Confidence
lysosome 4
cytosol 3
plasma membrane 2
extracellular 1
peroxisome 1
endosome 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OSTM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane TAS --
GO:0005829 cytosol IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with OSTM1: view

Pathways & Interactions for OSTM1 Gene

genes like me logo Genes that share pathways with OSTM1: view

Pathways by source for OSTM1 Gene

Gene Ontology (GO) - Biological Process for OSTM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030316 osteoclast differentiation IEA --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with OSTM1: view

No data available for SIGNOR curated interactions for OSTM1 Gene

Drugs & Compounds for OSTM1 Gene

No Compound Related Data Available

Transcripts for OSTM1 Gene

mRNA/cDNA for OSTM1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for OSTM1 Gene

No ASD Table

Relevant External Links for OSTM1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for OSTM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OSTM1 Gene

Protein differential expression in normal tissues from HIPED for OSTM1 Gene

This gene is overexpressed in Monocytes (19.3), Peripheral blood mononuclear cells (11.7), Retina (11.0), Placenta (9.6), and Testis (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for OSTM1 Gene

Protein tissue co-expression partners for OSTM1 Gene

NURSA nuclear receptor signaling pathways regulating expression of OSTM1 Gene:


SOURCE GeneReport for Unigene cluster for OSTM1 Gene:


Evidence on tissue expression from TISSUES for OSTM1 Gene

  • Blood(4.2)
  • Liver(4.2)
  • Nervous system(3.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for OSTM1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • skull
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with OSTM1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for OSTM1 Gene

Orthologs for OSTM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for OSTM1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia OSTM1 33 32
  • 99.5 (n)
(Canis familiaris)
Mammalia OSTM1 33 32
  • 91.36 (n)
(Bos Taurus)
Mammalia OSTM1 33 32
  • 89.43 (n)
(Mus musculus)
Mammalia Ostm1 17 33 32
  • 79.58 (n)
(Rattus norvegicus)
Mammalia Ostm1 32
  • 79.14 (n)
(Ornithorhynchus anatinus)
Mammalia OSTM1 33
  • 79 (a)
(Monodelphis domestica)
Mammalia OSTM1 33
  • 78 (a)
(Gallus gallus)
Aves OSTM1 33 32
  • 70.16 (n)
(Anolis carolinensis)
Reptilia OSTM1 33
  • 63 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ostm1 32
  • 61.74 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3285 32
(Danio rerio)
Actinopterygii ostm1 33 32
  • 55.31 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14969 33
  • 21 (a)
Species where no ortholog for OSTM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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 OSTM1 Gene

Gene Tree for OSTM1 (if available)
Gene Tree for OSTM1 (if available)
Evolutionary constrained regions (ECRs) for OSTM1: view image

Paralogs for OSTM1 Gene

No data available for Paralogs for OSTM1 Gene

Variants for OSTM1 Gene

Sequence variations from dbSNP and Humsavar for OSTM1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1064346 benign, Osteopetrosis 108,043,747(-) T/C 3_prime_UTR_variant, non_coding_transcript_variant
rs111332944 likely-benign, Osteopetrosis 108,042,238(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs112283202 benign, Osteopetrosis 108,042,502(-) A/C/G 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs112424495 likely-benign, Osteopetrosis 108,041,456(-) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs112792700 benign, Osteopetrosis 108,042,456(-) C/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for OSTM1 Gene

Variant ID Type Subtype PubMed ID
esv3610308 CNV loss 21293372
nsv1031826 CNV loss 25217958
nsv472800 CNV novel sequence insertion 20440878
nsv604456 CNV loss 21841781
nsv820169 CNV loss 19587683

Variation tolerance for OSTM1 Gene

Residual Variation Intolerance Score: 37.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.71; 57.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OSTM1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OSTM1 Gene

Disorders for OSTM1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for OSTM1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
osteopetrosis, autosomal recessive 5
  • optb5
infantile osteopetrosis with neuroaxonal dysplasia
  • albers-schonberg osteopetrosis
endosteal hyperostosis, autosomal dominant
  • hyperostosis corticalis generalisata, benign form of worth, with torus palatinus
bone disease
  • skeletal disease
- elite association - COSMIC cancer census association via MalaCards
Search OSTM1 in MalaCards View complete list of genes associated with diseases


  • Osteopetrosis, autosomal recessive 5 (OPTB5) [MIM:259720]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB5 patients manifest primary central nervous system involvement in addition to the classical stigmata of severe bone sclerosis, growth failure, anemia, thrombocytopenia and visual impairment with optic atrophy. {ECO:0000269 PubMed:12627228, ECO:0000269 PubMed:16813530}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for OSTM1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with OSTM1: view

No data available for Genatlas for OSTM1 Gene

Publications for OSTM1 Gene

  1. Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. (PMID: 12627228) Chalhoub N … Vacher J (Nature medicine 2003) 2 3 4 23 56
  2. ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity. (PMID: 21527911) Leisle L … Stauber T (The EMBO journal 2011) 2 3 4 56
  3. Secretion of a truncated osteopetrosis-associated transmembrane protein 1 (OSTM1) mutant inhibits osteoclastogenesis through down-regulation of the B lymphocyte-induced maturation protein 1 (BLIMP1)-nuclear factor of activated T cells c1 (NFATc1) axis. (PMID: 25359771) Shin B … Rho J (The Journal of biological chemistry 2014) 2 3 56
  4. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 43 56
  5. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira AR … Marazita ML (Genetics in medicine : official journal of the American College of Medical Genetics 2008) 3 43 56

Products for OSTM1 Gene

Sources for OSTM1 Gene