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    TMEM132D transmembrane protein 132D [ Homo sapiens (human) ]

    Gene ID: 121256, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TMEM132Dprovided by HGNC
    Official Full Name
    transmembrane protein 132Dprovided by HGNC
    Primary source
    HGNC:HGNC:29411
    See related
    Ensembl:ENSG00000151952 MIM:611257; AllianceGenome:HGNC:29411
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MOLT; PPP1R153
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 5.0) and testis (RPKM 0.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM132D in Genome Data Viewer
    Location:
    12q24.33
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (129071726..129904025, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (129103059..129940259, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (129556271..130388570, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370073 Neighboring gene MPRA-validated peak2046 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:129549080-129549585 Neighboring gene uncharacterized LOC124903086 Neighboring gene NLR family pyrin domain containing 9 pseudogene 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25393 Neighboring gene TMEM132D antisense RNA 1 Neighboring gene TMEM132D antisense RNA 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:129694216-129695415 Neighboring gene tRNA-Ile (anticodon AAT) 11-1 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:129818221-129818407 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:129820840-129821772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:129821773-129822705 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_25486 and experimental_25487 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25513 Neighboring gene uncharacterized LOC105370074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:130037777-130038276 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:130091629-130092828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:130184278-130184778 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:130255581-130256164 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:130256165-130256748 Neighboring gene NANOG hESC enhancer GRCh37_chr12:130312018-130312519 Neighboring gene uncharacterized LOC124903085 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:130337885-130339084 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:130356309-130357280 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:130382881-130383382 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25552 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25563 Neighboring gene uncharacterized LOC105370076 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:130481778-130482416 Neighboring gene uncharacterized LOC124903087

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Polymorphisms in the TMEM132D region are associated with panic disorder in HLA-DRB1*13:02-negative individuals of a Japanese population. Shimada-Sugimoto M, et al. Hum Genome Var, 2016. PMID 27081567, Free PMC Article
    2. Higher anxiety and larger amygdala volumes in carriers of a TMEM132D risk variant for panic disorder. Haaker J, et al. Transl Psychiatry, 2014 Feb 4. PMID 24495968, Free PMC Article
    3. TMEM132D, a new candidate for anxiety phenotypes: evidence from human and mouse studies. Erhardt A, et al. Mol Psychiatry, 2011 Jun. PMID 20368705
    4. Replication and meta-analysis of TMEM132D gene variants in panic disorder. Erhardt A, et al. Transl Psychiatry, 2012 Sep 4. PMID 22948381, Free PMC Article
    5. Rare variants in TMEM132D in a case-control sample for panic disorder. Quast C, et al. Am J Med Genet B Neuropsychiatr Genet, 2012 Dec. PMID 22911938

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMEM132D and VIPR2 Polymorphisms as Genetic Risk Loci for Retinal Detachment: A Genome-Wide Association Study and Polygenic Risk Score Analysis.
      Title: TMEM132D and VIPR2 Polymorphisms as Genetic Risk Loci for Retinal Detachment: A Genome-Wide Association Study and Polygenic Risk Score Analysis.
    2. Thus, GPC6 and TMEM132D may serve as predictors of CD8+ T-lymphocyte infiltration and as favorable prognostic markers in early stage ovarian cancer with important consequences for diagnosis.
      Title: Overexpression of GPC6 and TMEM132D in Early Stage Ovarian Cancer Correlates with CD8+ T-Lymphocyte Infiltration and Increased Patient Survival.
    3. TMEM132D, COMT and GABRA6 gene polymorphisms may influence susceptibility to panic disorder(PD) and major depressive disorder(MDD)in Japanese adults; these variants may increase vulnerability to PD by modulating oligodendrocytes and GABA and dopaminergic functions in related brain regions, altering neuronal processing of anxiety-related emotionl signals
      Title: Association of TMEM132D, COMT, and GABRA6 genotypes with cingulate, frontal cortex and hippocampal emotional processing in panic and major depressive disorder.
    4. Enhanced amygdala gray matter volumes and anxiety-related (but not panic-specific) personality profiles are found in healthy normal carriers of the rs11060369 AA TMEM132D genotype.
      Title: Higher anxiety and larger amygdala volumes in carriers of a TMEM132D risk variant for panic disorder.
    5. data suggest that not only common but also putatively functional and/or rare variants within TMEM132D might contribute to the risk to develop anxiety disorders
      Title: Rare variants in TMEM132D in a case-control sample for panic disorder.
    6. TMEM132D was first identified as a possible candidate gene for panic disorder in a genome-wide association study conducted at the Max Planck Institute of Psychiatry in Munich.
      Title: Replication and meta-analysis of TMEM132D gene variants in panic disorder.
    7. We found no genome-wide statistically significant associations but identified several plausible candidate genes among findings at p < 5E-05: TMEM132D, LRRC7, SEMA3A, ALK, and STIP1.
      Title: Genome-wide association study of the child behavior checklist dysregulation profile.
    8. TMEM132D may be an important new candidate gene for PD as well as more generally for anxiety-related behavior.
      Title: TMEM132D, a new candidate for anxiety phenotypes: evidence from human and mouse studies.
    9. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of behavioral disinhibition.
    EBI GWAS Catalog
    Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
    EBI GWAS Catalog
    Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1944, MGC138770, MGC138771

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane protein 132D
    Names
    mature OL transmembrane protein
    mature oligodendrocytes transmembrane protein
    protein phosphatase 1, regulatory subunit 153

    NCBI Reference Sequences (RefSeq)

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    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_052808.1 RefSeqGene

      Range
      4643..836942
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_133448.3 → NP_597705.2  transmembrane protein 132D precursor

      See identical proteins and their annotated locations for NP_597705.2

      Status: VALIDATED

      Source sequence(s)
      AB061814, AC055717, AC107033, BC114626
      Consensus CDS
      CCDS9266.1
      UniProtKB/Swiss-Prot
      Q14C87, Q14C96, Q76M59, Q8N1W9, Q8N3Q5, Q8TF57
      Related
      ENSP00000408581.2, ENST00000422113.7
      Conserved Domains (3) summary
      pfam15705
      Location:49 → 179
      TMEM132D_N; Mature oligodendrocyte transmembrane protein, TMEM132D, N-term
      pfam15706
      Location:886 → 972
      TMEM132D_C; Mature oligodendrocyte transmembrane protein, TMEM132D, C-term
      pfam16070
      Location:436 → 778
      TMEM132; Transmembrane protein family 132

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      129071726..129904025 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      129103059..129940259 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14C87.1 GenPept UniProtKB/Swiss-Prot:Q14C87

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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