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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. Gene Ontology (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.

Additional gene information for TMEM38B Gene

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

Genomics for TMEM38B Gene

GeneHancer (GH) Regulatory Elements for TMEM38B Gene

Promoters and enhancers for TMEM38B 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
GH09I105693 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 574.1 +0.2 226 2.5 ATF1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B ZNF143 ZNF263 TMEM38B LOC100421293
GH09I105700 Enhancer 0.6 ENCODE 23.9 +6.6 6618 1.8 BCOR ZNF189 CEBPB ZMYM3 CEBPG MNT ZNF121 PRDM6 HDAC2 KDM1A TMEM38B LOC100421293
GH09I105293 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 6.9 -397.1 -397100 7 ATF1 BRCA1 ZBTB40 TCF12 ZNF766 EGR1 SCRT2 FOS ETV6 RUNX3 SLC44A1 ABCA1 TMEM38B FSD1L
GH09I105646 Enhancer 0.9 ENCODE 11.1 -47.0 -47004 1.7 HDGF PKNOX1 SMAD1 ATF1 ARNT NCOA2 TCF12 ZNF766 GATA2 FOS TMEM38B FKTN FSD1L ENSG00000279609 GC09M105565
GH09I105673 Enhancer 0.7 ENCODE 12.2 -21.5 -21450 0.2 MEIS2 PKNOX1 LEF1 ATF1 FEZF1 ZBTB40 CHAMP1 CC2D1A CTBP1 ZNF600 TMEM38B TAL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEM38B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM38B gene promoter:

Genomic Locations for TMEM38B Gene

Genomic Locations for TMEM38B Gene
chr9:105,694,525-105,776,612
(GRCh38/hg38)
Size:
82,088 bases
Orientation:
Plus strand
chr9:108,456,825-108,538,893
(GRCh37/hg19)

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; trimerization probably requires binding to phosphatidylinositol 4,5-bisphosphate (PIP2).
    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

No data available for DME Specific Peptides for TMEM38B Gene

Domains & Families for TMEM38B Gene

Gene Families for TMEM38B Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins
  • Transporters

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 :
  • Belongs to the TMEM38 family.
Family:
  • Belongs to the TMEM38 family.
genes like me logo Genes that share domains with TMEM38B: view

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.

Phenotypes From GWAS Catalog for TMEM38B Gene

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

CRISPR Products

miRNA for TMEM38B Gene

miRTarBase miRNAs that target TMEM38B

Inhibitory RNA Products

Clone 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,HDA 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEM38B Gene

Pathways & Interactions for TMEM38B Gene

SuperPathways for TMEM38B Gene

No Data Available

Interacting Proteins for TMEM38B Gene

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 Approved 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:

CRISPR Products

Inhibitory RNA Products

Clone 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 CGAP 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

Evidence on tissue expression from TISSUES for TMEM38B Gene

  • Kidney(4.3)
  • Nervous system(3.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM38B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • biliary tract
  • kidney
  • liver
Pelvis:
  • pelvis
  • ureter
  • uterus
  • vagina
Limb:
  • 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
General:
  • blood
  • blood vessel
  • skin
  • spinal column
  • vertebrae
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 33 34
  • 99.77 (n)
dog
(Canis familiaris)
Mammalia TMEM38B 33 34
  • 88.93 (n)
cow
(Bos Taurus)
Mammalia TMEM38B 33 34
  • 87.86 (n)
rat
(Rattus norvegicus)
Mammalia Tmem38b 33
  • 80.69 (n)
mouse
(Mus musculus)
Mammalia Tmem38b 33 16 34
  • 80.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM38B 34
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM38B 34
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM38B 33 34
  • 67.14 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM38B 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem38b 33
  • 60.5 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15857 33
zebrafish
(Danio rerio)
Actinopterygii tmem38b 33
  • 53.41 (n)
CABZ01079427.1 34
  • 39 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG4239 34
  • 33 (a)
ManyToMany
CG33061 34
  • 22 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea Y57A10A.10 34
  • 28 (a)
ManyToMany
Y57A10A.28 34
  • 28 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8498 34
  • 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 Variation AA Info Type
rs1000006331 -- 105,742,314(+) G/C intron_variant
rs1000013241 -- 105,767,191(+) T/G genic_downstream_transcript_variant, intron_variant
rs1000035636 -- 105,702,952(+) T/C intron_variant
rs1000115891 -- 105,731,513(+) G/A intron_variant
rs1000118642 -- 105,774,603(+) G/T 3_prime_UTR_variant, genic_downstream_transcript_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)

Additional Variant Information 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: HGMD, OMIM, ClinVar, GTR, Orphanet, and DISEASES

- 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.

Additional Disease Information for TMEM38B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 OS (Human mutation 2013) 2 3 4 58
  2. Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. (PMID: 23054245) Shaheen R … Alkuraya FS (Journal of medical genetics 2012) 3 4 58
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
  4. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PMID: 21102462) Elks CE … Murray A (Nature genetics 2010) 3 44 58
  5. Meta-analysis of genome-wide association data identifies two loci influencing age at menarche. (PMID: 19448620) Perry JR … Murabito JM (Nature genetics 2009) 3 44 58

Products for TMEM38B Gene

Sources for TMEM38B Gene

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