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Aliases for TMEM38B Gene

Aliases for TMEM38B Gene

  • Transmembrane Protein 38B 2 3 4 5
  • C9orf87 3 4
  • TRIC-B 3 4
  • TRICB 3 4
  • Trimeric Intracellular Cation Channel Type B 3
  • Chromosome 9 Open Reading Frame 87 2
  • BA219P18.1 3
  • D4Ertd89e 3
  • OI14 3

External Ids for TMEM38B Gene

Previous HGNC Symbols for TMEM38B Gene

  • C9orf87

Previous GeneCards Identifiers for TMEM38B Gene

  • GC09P105537
  • GC09P107497
  • GC09P108456
  • GC09P078058

Summaries for TMEM38B Gene

Entrez Gene Summary for TMEM38B Gene

  • This gene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this gene may be associated with autosomal recessive osteogenesis. [provided by RefSeq, Oct 2012]

GeneCards Summary for TMEM38B Gene

TMEM38B (Transmembrane Protein 38B) is a Protein Coding gene. Diseases associated with TMEM38B include Osteogenesis Imperfecta, Type Xiv and Osteogenesis Imperfecta, Type Iv. GO annotations related to this gene include potassium channel activity and cation channel activity. An important paralog of this gene is TMEM38A.

UniProtKB/Swiss-Prot for TMEM38B Gene

  • Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM38B Gene

Genomics for TMEM38B Gene

Regulatory Elements for TMEM38B Gene

Enhancers for TMEM38B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F105693 1 ENCODE 24.1 +0.2 216 2.5 ATF1 ARID4B SIN3A DMAP1 ZNF2 KLF13 ZNF263 SP5 MXD4 REST TMEM38B LOC100421293
GH09F105700 0.8 Ensembl ENCODE 23.8 +6.6 6619 1.8 BCOR ZNF121 HDAC2 HLF ZMYM3 CEBPB KDM1A TMEM38B LOC100421293
GH09F105711 0.8 FANTOM5 20.2 +17.5 17491 0.4 PKNOX1 ZSCAN18 INSM2 SIN3A FEZF1 CEBPG ZEB1 ZNF366 PATZ1 GFI1B TMEM38B LOC100421293 GC09P105744
GH09F105683 0.8 ENCODE 18.8 -10.5 -10470 1.2 ELF3 TFAP4 ATF1 SAP130 MLX DMAP1 CEBPG ZNF644 THRB TEAD3 TMEM38B TAL2
GH09F105672 1 Ensembl ENCODE 12.2 -21.5 -21493 0.5 LEF1 ATF1 PKNOX1 FEZF1 ZBTB40 CHAMP1 SCRT2 NFYB ZNF600 CREM TMEM38B TAL2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM38B on UCSC Golden Path with GeneCards custom track

Promoters for TMEM38B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001310595 475 2801 ATF1 ARID4B SIN3A DMAP1 ZNF2 KLF13 ZNF263 SP5 MXD4 REST

Genomic Location for TMEM38B Gene

Chromosome:
9
Start:
105,694,525 bp from pter
End:
105,776,612 bp from pter
Size:
82,088 bases
Orientation:
Plus strand

Genomic View for TMEM38B Gene

Genes around TMEM38B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM38B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM38B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM38B Gene

Proteins for TMEM38B Gene

  • Protein details for TMEM38B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NVV0-TM38B_HUMAN
    Recommended name:
    Trimeric intracellular cation channel type B
    Protein Accession:
    Q9NVV0
    Secondary Accessions:
    • Q5JR63
    • Q5SVN5
    • Q5SVN6
    • Q5VTE2
    • Q6IA97

    Protein attributes for TMEM38B Gene

    Size:
    291 amino acids
    Molecular mass:
    32510 Da
    Quaternary structure:
    • Homotrimer.
    SequenceCaution:
    • Sequence=CAH71458.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI12390.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI12391.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI12392.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI39690.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI39691.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI39692.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for TMEM38B Gene

Post-translational modifications for TMEM38B Gene

  • Ubiquitination at Lys 166
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMEM38B Gene

Domains & Families for TMEM38B Gene

Protein Domains for TMEM38B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM38B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NVV0

UniProtKB/Swiss-Prot:

TM38B_HUMAN :
  • The second transmembrane domain has been proposed to cross only half of the lipid bilayer and to loop back into the cytosol, so that the domains on each side of this domain are both found on the cytosolic face of the membrane. The cytosolic loop may form an ion-conducting pore (By similarity).
  • Belongs to the TMEM38 family.
Domain:
  • The second transmembrane domain has been proposed to cross only half of the lipid bilayer and to loop back into the cytosol, so that the domains on each side of this domain are both found on the cytosolic face of the membrane. The cytosolic loop may form an ion-conducting pore (By similarity).
Family:
  • Belongs to the TMEM38 family.
genes like me logo Genes that share domains with TMEM38B: view

No data available for Gene Families for TMEM38B Gene

Function for TMEM38B Gene

Molecular function for TMEM38B Gene

UniProtKB/Swiss-Prot Function:
Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores (By similarity).

Gene Ontology (GO) - Molecular Function for TMEM38B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005267 potassium channel activity TAS 19095005
GO:0015269 calcium-activated potassium channel activity IBA --
genes like me logo Genes that share ontologies with TMEM38B: view
genes like me logo Genes that share phenotypes with TMEM38B: view

Human Phenotype Ontology for TMEM38B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TMEM38B Gene

MGI Knock Outs for TMEM38B:

Animal Model Products

  • Taconic Biosciences Mouse Models for TMEM38B

miRNA for TMEM38B Gene

miRTarBase miRNAs that target TMEM38B

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TMEM38B Gene

Localization for TMEM38B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM38B Gene

Endoplasmic reticulum 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 TMEM38B gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
plasma membrane 2
peroxisome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for TMEM38B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM38B: view

Pathways & Interactions for TMEM38B Gene

SuperPathways for TMEM38B Gene

No Data Available

Interacting Proteins for TMEM38B Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000363824%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000385269%0d%0a
Selected Interacting proteins: ENSP00000363824 Q9NVV0-TM38B_HUMAN for TMEM38B Gene via STRING IID

Gene Ontology (GO) - Biological Process for TMEM38B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0015672 monovalent inorganic cation transport IEA --
GO:0071805 potassium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with TMEM38B: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM38B Gene

Drugs & Compounds for TMEM38B Gene

(1) Drugs for TMEM38B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with TMEM38B: view

Transcripts for TMEM38B Gene

Unigene Clusters for TMEM38B Gene

Transmembrane protein 38B:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM38B Gene

No ASD Table

Relevant External Links for TMEM38B Gene

GeneLoc Exon Structure for
TMEM38B
ECgene alternative splicing isoforms for
TMEM38B

Expression for TMEM38B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMEM38B Gene

mRNA differential expression in normal tissues according to GTEx for TMEM38B Gene

This gene is overexpressed in Muscle - Skeletal (x7.8).

Protein differential expression in normal tissues from HIPED for TMEM38B Gene

This gene is overexpressed in Testis (22.2), Islet of Langerhans (11.5), Fetal gut (8.4), and Kidney (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TMEM38B Gene



NURSA nuclear receptor signaling pathways regulating expression of TMEM38B Gene:

TMEM38B

SOURCE GeneReport for Unigene cluster for TMEM38B Gene:

Hs.411925
genes like me logo Genes that share expression patterns with TMEM38B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for TMEM38B Gene

Orthologs for TMEM38B Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM38B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM38B 34 35
  • 99.77 (n)
dog
(Canis familiaris)
Mammalia TMEM38B 34 35
  • 88.93 (n)
cow
(Bos Taurus)
Mammalia TMEM38B 34 35
  • 87.86 (n)
rat
(Rattus norvegicus)
Mammalia Tmem38b 34
  • 80.69 (n)
mouse
(Mus musculus)
Mammalia Tmem38b 34 16 35
  • 80.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM38B 35
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM38B 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM38B 34 35
  • 67.14 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM38B 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem38b 34
  • 60.5 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15857 34
zebrafish
(Danio rerio)
Actinopterygii tmem38b 34
  • 53.41 (n)
CABZ01079427.1 35
  • 39 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG4239 35
  • 33 (a)
ManyToMany
CG33061 35
  • 22 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea Y57A10A.10 35
  • 28 (a)
ManyToMany
Y57A10A.28 35
  • 28 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8498 35
  • 27 (a)
OneToMany
Species where no ortholog for TMEM38B 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 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)

Evolution for TMEM38B Gene

ENSEMBL:
Gene Tree for TMEM38B (if available)
TreeFam:
Gene Tree for TMEM38B (if available)

Paralogs for TMEM38B Gene

Paralogs for TMEM38B Gene

(1) SIMAP similar genes for TMEM38B Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for TMEM38B Gene

genes like me logo Genes that share paralogs with TMEM38B: view

Variants for TMEM38B Gene

Sequence variations from dbSNP and Humsavar for TMEM38B Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs10046878 -- 105,749,833(+) ttcat(A/G)taaaa intron-variant
rs10046892 -- 105,751,854(+) AGCAG(G/T)ACCCT intron-variant
rs10114077 -- 105,759,894(+) ATCAA(C/T)ACACC intron-variant
rs10114109 -- 105,760,052(+) TCCAG(A/C)TTCTT intron-variant
rs10114130 -- 105,730,046(+) cctct(C/T)ttcct intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM38B Gene

Variant ID Type Subtype PubMed ID
nsv982335 CNV duplication 23825009
nsv968742 CNV duplication 23825009
nsv825027 CNV gain 20364138
nsv6653 CNV insertion 18451855
nsv615139 CNV loss 21841781
nsv615138 CNV loss 21841781
nsv615127 CNV loss 21841781
nsv615117 CNV loss 21841781
nsv615116 CNV loss 21841781
nsv508558 CNV deletion 20534489
nsv1117521 CNV tandem duplication 24896259
nsv1115217 CNV deletion 24896259
esv3891707 CNV gain 25118596
esv3891705 CNV loss 25118596
esv3621365 CNV loss 21293372
esv3621364 CNV gain 21293372
esv3621363 CNV loss 21293372
esv3621361 CNV loss 21293372
esv3545255 CNV deletion 23714750
esv2738883 CNV deletion 23290073
esv26979 CNV gain 19812545
esv2675392 CNV deletion 23128226
esv2670351 CNV deletion 23128226
esv2666375 CNV deletion 23128226
dgv7698n100 CNV loss 25217958
dgv1369e199 CNV deletion 23128226
dgv12843n54 CNV gain 21841781
dgv12842n54 CNV gain 21841781
dgv12841n54 CNV gain+loss 21841781
dgv12840n54 CNV gain 21841781
dgv12839n54 CNV gain+loss 21841781
dgv12838n54 CNV loss 21841781
dgv12837n54 CNV loss 21841781

Variation tolerance for TMEM38B Gene

Residual Variation Intolerance Score: 58.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.84; 17.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM38B Gene

Human Gene Mutation Database (HGMD)
TMEM38B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM38B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM38B Gene

Disorders for TMEM38B Gene

MalaCards: The human disease database

(4) MalaCards diseases for TMEM38B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
osteogenesis imperfecta, type xiv
  • osteogenesis imperfecta type 14
osteogenesis imperfecta, type iv
  • osteogenesis imperfecta type 4
tmem38b-related osteogenesis imperfecta
osteogenesis imperfecta
  • brittle bone disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TM38B_HUMAN
  • Osteogenesis imperfecta 14 (OI14) [MIM:615066]: An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI14 is characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years. {ECO:0000269 PubMed:23054245, ECO:0000269 PubMed:23316006}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TMEM38B

Genetic Association Database (GAD)
TMEM38B
Human Genome Epidemiology (HuGE) Navigator
TMEM38B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM38B
genes like me logo Genes that share disorders with TMEM38B: view

No data available for Genatlas for TMEM38B Gene

Publications for TMEM38B Gene

  1. A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta. (PMID: 23316006) Volodarsky M. … Birk O.S. (Hum. Mutat. 2013) 2 3 4 64
  2. Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. (PMID: 23054245) Shaheen R. … Alkuraya F.S. (J. Med. Genet. 2012) 3 4 64
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 64
  4. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PMID: 21102462) Elks C.E. … Murray A. (Nat. Genet. 2010) 3 46 64
  5. Meta-analysis of genome-wide association data identifies two loci influencing age at menarche. (PMID: 19448620) Perry J.R. … Murabito J.M. (Nat. Genet. 2009) 3 46 64

Products for TMEM38B Gene

Sources for TMEM38B Gene

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