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    TMEM38B transmembrane protein 38B [ Homo sapiens (human) ]

    Gene ID: 55151, updated on 17-Jun-2024

    Summary

    Official Symbol
    TMEM38Bprovided by HGNC
    Official Full Name
    transmembrane protein 38Bprovided by HGNC
    Primary source
    HGNC:HGNC:25535
    See related
    Ensembl:ENSG00000095209 MIM:611236; AllianceGenome:HGNC:25535
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OI14; TRICB; TRIC-B; C9orf87; D4Ertd89e; bA219P18.1
    Summary
    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]
    Expression
    Broad expression in thyroid (RPKM 13.5), testis (RPKM 9.6) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TMEM38B in Genome Data Viewer
    Location:
    9q31.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (105694541..105776629)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (117869221..117951308)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (108456822..108538910)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28744 Neighboring gene NANOG hESC enhancer GRCh37_chr9:108355386-108355925 Neighboring gene FKTN antisense RNA 1 Neighboring gene GATA motif-containing MPRA enhancer 228 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:108413980-108414542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28746 Neighboring gene fukutin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20154 Neighboring gene uncharacterized LOC107987107 Neighboring gene serine and arginine rich splicing factor 10 pseudogene Neighboring gene Sharpr-MPRA regulatory region 1451 Neighboring gene MPRA-validated peak7316 silencer Neighboring gene TAL bHLH transcription factor 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:108544378-108545028 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:108545029-108545679 Neighboring gene DEP domain containing 1 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:108597740-108598240 Neighboring gene solute carrier family 25 member 6 pseudogene 5 Neighboring gene uncharacterized LOC107987108 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:108720067-108720622 Neighboring gene uncharacterized LOC107987109

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Osteogenesis imperfecta type 14
    MedGen: C3554428 OMIM: 615066 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    EBI GWAS Catalog
    Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association data identifies two loci influencing age at menarche.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 is identified to have a physical interaction with transmembrane protein 38B (TMEM38B) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 is identified to have a physical interaction with transmembrane protein 38B (TMEM38B) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10493

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables potassium channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nuclear membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleus HDA PubMed 
    located_in sarcoplasmic reticulum membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    trimeric intracellular cation channel type B

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032971.1 RefSeqGene

      Range
      5017..87105
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018112.3NP_060582.1  trimeric intracellular cation channel type B

      See identical proteins and their annotated locations for NP_060582.1

      Status: REVIEWED

      Source sequence(s)
      AK001355, AL592488, BC000049, BU728078, BX112234
      Consensus CDS
      CCDS6768.1
      UniProtKB/Swiss-Prot
      Q5JR63, Q5SVN5, Q5SVN6, Q5VTE2, Q6IA97, Q9NVV0
      Related
      ENSP00000363824.3, ENST00000374692.8
      Conserved Domains (1) summary
      pfam05197
      Location:39221
      TRIC; TRIC channel

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      105694541..105776629
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518832.4XP_011517134.1  trimeric intracellular cation channel type B isoform X3

      Conserved Domains (1) summary
      pfam05197
      Location:39130
      TRIC; TRIC channel
    2. XM_011518831.3XP_011517133.1  trimeric intracellular cation channel type B isoform X2

      See identical proteins and their annotated locations for XP_011517133.1

      Conserved Domains (1) summary
      pfam05197
      Location:39181
      TRIC; TRIC channel
    3. XM_005252075.3XP_005252132.1  trimeric intracellular cation channel type B isoform X1

      See identical proteins and their annotated locations for XP_005252132.1

      UniProtKB/TrEMBL
      A0A0A0MRS4
      Related
      ENSP00000363820.1, ENST00000374688.5
      Conserved Domains (1) summary
      pfam05197
      Location:1167
      TRIC; TRIC channel

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      117869221..117951308
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363215.1XP_054219190.1  trimeric intracellular cation channel type B isoform X3

    2. XM_054363214.1XP_054219189.1  trimeric intracellular cation channel type B isoform X2