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TMEM38B Gene

protein-coding   GIFtS: 54
GCID: GC09P108456

Transmembrane Protein 38B

(Previous name: chromosome 9 open reading frame 87)
(Previous symbol: C9orf87)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Transmembrane Protein 38B1 2 3     Chromosome 9 Open Reading Frame 871
C9orf871 2 3     D4Ertd89e2
TRICB2 3 5     bA219P18.12
TRIC-B2 3     Trimeric Intracellular Cation Channel Type B2
OI142 5     

External Ids:    HGNC: 255351   Entrez Gene: 551512   Ensembl: ENSG000000952097   OMIM: 6112365   UniProtKB: Q9NVV03   

Export aliases for TMEM38B gene to outside databases

Previous GC identifers: GC09P105537 GC09P107497 GC09P078058


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 4. GO annotations related to this gene include potassium channel activity. An important paralog of this gene is TMEM38A.

UniProtKB/Swiss-Prot: TM38B_HUMAN, Q9NVV0
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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM38B gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   POU2F2   C/EBPalpha   POU2F1   FOXJ2 (long isoform)   POU2F1a   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM38B promoter sequence
   Search Chromatin IP Primers for TMEM38B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM38B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q31.2   Ensembl cytogenetic band:  9q31.2   HGNC cytogenetic band: 9q31.3

TMEM38B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM38B gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P108456:  view genomic region     (about GC identifiers)

Start:
108,456,825 bp from pter      End:
108,538,893 bp from pter
Size:
82,069 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TM38B_HUMAN, Q9NVV0 (See protein sequence)
Recommended Name: Trimeric intracellular cation channel type B  
Size: 291 amino acids; 32510 Da
Subunit: Homotrimer (By similarity)
Sequence caution: Sequence=CAH71458.1; Type=Erroneous gene model prediction; Sequence=CAI12390.1; Type=Erroneous
gene model prediction; Sequence=CAI12391.1; Type=Erroneous gene model prediction; Sequence=CAI12392.1;
Type=Erroneous gene model prediction; Sequence=CAI39690.1; Type=Erroneous initiation; Sequence=CAI39691.1;
Type=Erroneous gene model prediction; Sequence=CAI39692.1; Type=Erroneous gene model prediction;
Secondary accessions: Q5JR63 Q5SVN5 Q5SVN6 Q5VTE2 Q6IA97

Explore the universe of human proteins at neXtProt for TMEM38B: NX_Q9NVV0

Explore proteomics data for TMEM38B at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys166
  • Modification sites at PhosphoSitePlus

  • See TMEM38B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060582.1  
    ENSEMBL proteins: 
     ENSP00000403026   ENSP00000363824   ENSP00000363820   ENSP00000410800   ENSP00000416680  

    TMEM38B Human Recombinant Protein Products:

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    Browse Sino Biological Recombinant Proteins
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    Cloud-Clone Corp. Proteins for TMEM38B

    TMEM38B Antibody Products:

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    TMEM38B Assay Products:

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    Cloud-Clone Corp. CLIAs for TMEM38B


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR007866 TRIC_channel

    Graphical View of Domain Structure for InterPro Entry Q9NVV0

    ProtoNet protein and cluster: Q9NVV0

    UniProtKB/Swiss-Prot: TM38B_HUMAN, Q9NVV0
    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)
    Similarity: Belongs to the TMEM38 family


    TMEM38B for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TM38B_HUMAN, Q9NVV0
    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): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005261cation channel activity ----
    GO:0005267potassium channel activity TAS19095005
         
    TMEM38B for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tmem38b):
     cardiovascular system  homeostasis/metabolism  mortality/aging  muscle  respiratory system 

    TMEM38B for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tmem38btm1Hta for TMEM38B

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMEM38B
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TMEM38B
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TMEM38B

    miRNA
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    miRTarBase miRNAs that target TMEM38B:
    hsa-mir-98-5p (MIRT027604), hsa-mir-7-5p (MIRT025820)

    Block miRNA regulation of human, mouse, rat TMEM38B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TMEM38B (see all 12):
    hsa-miR-142-5p hsa-miR-3163 hsa-miR-130a* hsa-miR-513a-3p hsa-miR-548e hsa-miR-23c hsa-miR-548a-3p hsa-miR-23b
    SwitchGear 3'UTR luciferase reporter plasmidTMEM38B 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TMEM38B

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: TMEM38B (NM_018112)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM38B

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for TMEM38B 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM38B


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TM38B_HUMAN, Q9NVV0: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    nucleus4
    plasma membrane2
    cytosol1
    lysosome1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0031965nuclear membrane NAS19095005
    GO:0033017sarcoplasmic reticulum membrane NAS19095005

    TMEM38B for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TMEM38B
    Interactions:

        Search GeneGlobe Interaction Network for TMEM38B

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for TMEM38B (Q9NVV03 ENSP000003638244) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015672monovalent inorganic cation transport ----

    TMEM38B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TMEM38B (TM38B)

    1 HMDB Compound for TMEM38B    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TMEM38B gene: 
    NM_018112.2  

    Unigene Cluster for TMEM38B:

    Transmembrane protein 38B
    Hs.411925  [show with all ESTs]
    Unigene Representative Sequence: NM_018112
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000434214 ENST00000374692(uc004bcu.1 uc010mtn.1) ENST00000374688
    ENST00000435034 ENST00000451560
    miRNA
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    Block miRNA regulation of human, mouse, rat TMEM38B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TMEM38B (see all 12):
    hsa-miR-142-5p hsa-miR-3163 hsa-miR-130a* hsa-miR-513a-3p hsa-miR-548e hsa-miR-23c hsa-miR-548a-3p hsa-miR-23b
    SwitchGear 3'UTR luciferase reporter plasmidTMEM38B 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TMEM38B
    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM38B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM38B
    Primer
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    OriGene qPCR primer pairs and template standards for TMEM38B
    OriGene qSTAR qPCR primer pairs in human, mouse for TMEM38B
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TMEM38B
      QuantiTect SYBR Green Assays in human, mouse, rat TMEM38B
      QuantiFast Probe-based Assays in human, mouse, rat TMEM38B

    Additional mRNA sequence: 

    AK001355.1 AK309686.1 BC000049.2 BC031938.1 CR457258.1 

    8 DOTS entries:

    DT.102649  DT.92067653  DT.203541  DT.92434816  DT.100785949  DT.101980981  DT.75100950  DT.92434809 

    Selected AceView cDNA sequences (see all 154):

    AI926566 AI613044 AI796730 AU154397 NM_018112 BC000049 BX112234 AA365184 
    AI494173 CA314060 AU132973 CB853348 BM917147 CD364527 BG430893 BM090798 
    AA365183 AA370694 CD243835 BQ009453 BX500610 CB045000 AK001355 AL701712 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TMEM38B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAATGTGTTA
    TMEM38B Expression
    About this image

    TMEM38B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMEM38B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.411925
        Custom PCR Arrays for TMEM38B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM38B

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TMEM38B gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem38b1 , 5 transmembrane protein 38B1, 5 80.57(n)1
    72.76(a)1
      4 (28.76 cM)5
    520761  NM_028053.21  NP_082329.11 
     538260455 
    chicken
    (Gallus gallus)
    Aves TMEM38B1 transmembrane protein 38B 67.14(n)
    56.18(a)
      427305  XM_424887.3  XP_424887.1 
    lizard
    (Anolis carolinensis)
    Reptilia TMEM38B6
    transmembrane protein 38B
    57(a)
    1 ↔ 1
    GL343218.1(1341651-1386452)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.158572 Xenopus laevis transcribed sequence with weak similarity more 76.1(n)    BQ728908.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tmem38b1 transmembrane protein 38B 53.41(n)
    47.08(a)
      393145  NM_200176.1  NP_956470.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG42396
    CG330616
    --
    33(a)
    22(a)
    many ↔ many
    many ↔ many
    X(16279348-16282736)
    3L(16322895-16324327)
    worm
    (Caenorhabditis elegans)
    Secernentea Y57A10A.106
    Y57A10A.286
    Protein Y57A10A.10 (Y57A10A.10) mRNA, complete cds...
    Protein Y57A10A.28 (Y57A10A.28) mRNA, complete cds...
    28(a)
    28(a)
    many ↔ many
    many ↔ many
    II(12256950-12266221) WBGene00013255
    II(12276322-12279379) WBGene00013268


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TMEM38B gene
    TMEM38A2  
    1 SIMAP similar gene for TMEM38B using alignment to 3 protein entries:     TM38B_HUMAN (see all proteins):
    TMEM38A

    TMEM38B for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TMEM38B
    PGOHUM00000237871


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TMEM38B (see all 1761)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs340030831,2
    C,F--78075247(+) GTCTC-/AAAAAA 1 -- int12Minor allele frequency- A:0.50NA CSA 4
    rs604528031,2
    C--78081253(+) TTTTAG/-AAACA 1 -- int13Minor allele frequency- -:0.17NA CSA 6
    rs339122361,2
    C--78087236(+) TTGTA-/T/TT  
            
    TTTTT
    1 -- int12NA CSA 4
    rs1430530661,2
    C--78096478(+) CCATT-/GGTCTG 1 -- int10--------
    rs2004101871,2
    C--78101165(-) GGACTC/TTTACT 1 -- int10--------
    rs1127522861,2
    C--78105939(+) ATTAAATGA    
       AAG
    /-
    AAGGC
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs603665631,2
    C--78105940(+) TTAAATGAA    
       AGA
    /-
    AGGCT
    1 -- int11Minor allele frequency- -:0.50NA 2
    rs2020503221,2
    C--78105945(-) GCCTTC/TTTTCA 1 -- int10--------
    rs78534021,2
    C,A--78126416(+) ctcatC/Aatttt 1 -- int11Minor allele frequency- A:0.50NA 2
    rs108163211,2
    A--78128378(+) GAACTA/GCAAAC 1 -- int10--------

    HapMap Linkage Disequilibrium report for TMEM38B (108456825 - 108538893 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TMEM38B (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1369e199CNV Deletion23128226
    esv2666375CNV Deletion23128226
    esv2675392CNV Deletion23128226
    esv2670351CNV Deletion23128226
    esv2738883CNV Deletion23290073
    nsv6653CNV Insertion18451855
    nsv508558CNV Loss20534489
    nsv893693CNV Gain21882294
    nsv825027CNV Gain20364138
    esv26979CNV Gain19812545

    Human Gene Mutation Database (HGMD): TMEM38B
    Locus Specific Mutation Databases (LSDB): TMEM38B

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TMEM38B
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM38B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611236   
    OMIM disorders: 615066  
    UniProtKB/Swiss-Prot: TM38B_HUMAN, Q9NVV0
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for TMEM38B:    
    About MalaCards
    osteogenesis imperfecta, type xiv    osteogenesis imperfecta type 4    osteogenesis imperfecta    cleft lip
    multiple myeloma    myeloma

    1 disease from the University of Copenhagen DISEASES database for TMEM38B:
    Osteogenesis imperfecta

    TMEM38B for disorders           About GeneDecksing

    Genetic Association Database (GAD): TMEM38B
    Human Genome Epidemiology (HuGE) Navigator: TMEM38B (4 documents)

    Export disorders for TMEM38B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TMEM38B gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with TMEM38B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta. (PubMed id 23316006)1, 2, 3 Volodarsky M.... Birk O.S. (Hum. Mutat. 2013)
    2. Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. (PubMed id 23054245)1, 2 Shaheen R.... Alkuraya F.S. (J. Med. Genet. 2012)
    3. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PubMed id 21102462)1, 4 Elks C.E....Murray A. (Nat. Genet. 2010)
    4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    5. Meta-analysis of genome-wide association data identifies two loci influencing age at menarche. (PubMed id 19448620)1, 4 Perry J.R....Murabito J.M. (Nat. Genet. 2009)
    6. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PubMed id 18464913)1, 4 Melzer D....Ferrucci L. (PLoS Genet. 2008)
    7. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PubMed id 18978678)1, 4 Vieira A.R....Marazita M.L. (Genet. Med. 2008)
    8. TRIC channels are essential for Ca2+ handling in intracellular stores. (PubMed id 17611541)1, 3 Yazawa M.... Takeshima H. (Nature 2007)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. (PubMed id 23449627)1 Cousminer D.L....WidAcn E. (Hum. Mol. Genet. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55151 HGNC: 25535 AceView: C9orf87 Ensembl:ENSG00000095209 euGenes: HUgn55151
    ECgene: TMEM38B H-InvDB: TMEM38B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TMEM38B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TMEM38B gene:
    Search GeneIP for patents involving TMEM38B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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