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    TMEM132B transmembrane protein 132B [ Homo sapiens (human) ]

    Gene ID: 114795, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TMEM132Bprovided by HGNC
    Official Full Name
    transmembrane protein 132Bprovided by HGNC
    Primary source
    HGNC:HGNC:29397
    See related
    Ensembl:ENSG00000139364 MIM:620260; AllianceGenome:HGNC:29397
    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
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in brain (RPKM 6.4), thyroid (RPKM 1.0) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM132B in Genome Data Viewer
    Location:
    12q24.31-q24.32
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (125186386..125662377)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (125194368..125670799)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (125670932..126146923)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5080 Neighboring gene NANOG hESC enhancer GRCh37_chr12:125567653-125568164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125575617-125576118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125589377-125589878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125589879-125590378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7321 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125605981-125606930 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125617807-125618438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125627653-125628227 Neighboring gene uncharacterized LOC105370053 Neighboring gene acetoacetyl-CoA synthetase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125644140-125644640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125670133-125670666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5081 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125678461-125678992 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:125691417-125691667 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125692947-125693686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125730381-125730881 Neighboring gene uncharacterized LOC105370054 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125764586-125765449 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125765450-125766312 Neighboring gene uncharacterized LOC107984445 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125798555-125799056 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125813668-125814394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125814395-125815120 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5083 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:125861407-125861906 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:125893185-125893373 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:125917777-125917975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7322 Neighboring gene NANOG hESC enhancer GRCh37_chr12:125920548-125921070 Neighboring gene Sharpr-MPRA regulatory region 9406 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:126022594-126023793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5084 Neighboring gene uncharacterized LOC105370055 Neighboring gene uncharacterized LOC124903047

    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. Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm. Farlow JL, et al. PLoS One, 2015. PMID 25803036, Free PMC Article
    2. TMEM132: an ancient architecture of cohesin and immunoglobulin domains define a new family of neural adhesion molecules. Sanchez-Pulido L, et al. Bioinformatics, 2018 Mar 1. PMID 29088312, Free PMC Article
    3. Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2. Winham SJ, et al. Mol Psychiatry, 2014 Sep. PMID 24322204
    4. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. Nagase T, et al. DNA Res, 2001 Aug 31. PMID 11572484
    5. Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. Xie T, et al. Neurobiol Aging, 2014 Jul. PMID 24529757

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMEM132B is differentially expressed in intracranial aneurysm samples as compared to controls.
      Title: Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm.
    2. 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

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog
    Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ37467, KIAA1786, KIAA1906

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 132B

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001286219.2 → NP_001273148.1  transmembrane protein 132B isoform b

      See identical proteins and their annotated locations for NP_001273148.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks multiple 5' coding exons, and contains an alternate 5' terminal exon, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (b) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AC005146, BC113366, HY012039
      Consensus CDS
      CCDS66501.1
      UniProtKB/Swiss-Prot
      Q14DG7
      Related
      ENSP00000482788.1, ENST00000613307.1
      Conserved Domains (2) summary
      pfam15706
      Location:382 → 465
      TMEM132D_C; Mature oligodendrocyte transmembrane protein, TMEM132D, C-term
      pfam16070
      Location:1 → 282
      TMEM132; Transmembrane protein family 132

    2. NM_001366854.1 → NP_001353783.1  transmembrane protein 132B isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC004806, AC005146, AC026370, AC093028
      Consensus CDS
      CCDS91772.1
      UniProtKB/TrEMBL
      A0A804HK64
      Related
      ENSP00000507790.1, ENST00000682704.1
      Conserved Domains (3) summary
      pfam15705
      Location:46 → 174
      TMEM132D_N; Mature oligodendrocyte transmembrane protein, TMEM132D, N-term
      pfam15706
      Location:875 → 956
      TMEM132D_C; Mature oligodendrocyte transmembrane protein, TMEM132D, C-term
      pfam16070
      Location:434 → 775
      TMEM132; Transmembrane protein family 132

    3. NM_052907.3 → NP_443139.2  transmembrane protein 132B isoform a

      See identical proteins and their annotated locations for NP_443139.2

      Status: VALIDATED

      Source sequence(s)
      AB058689, AC005146, AC026370, AC093028, AK093097
      Consensus CDS
      CCDS41859.1
      UniProtKB/Swiss-Prot
      A2RRG8, Q14DG7, Q8NA73, Q96JN9, Q96PY1
      Related
      ENSP00000299308.3, ENST00000299308.7
      Conserved Domains (3) summary
      pfam15705
      Location:41 → 170
      TMEM132D_N; Mature oligodendrocyte transmembrane protein, TMEM132D, N-term
      pfam15706
      Location:870 → 953
      TMEM132D_C; Mature oligodendrocyte transmembrane protein, TMEM132D, C-term
      pfam16070
      Location:429 → 770
      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
      125186386..125662377
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428245.1 → XP_047284201.1  transmembrane protein 132B isoform X4

    2. XM_047428243.1 → XP_047284199.1  transmembrane protein 132B isoform X1

    3. XM_047428241.1 → XP_047284197.1  transmembrane protein 132B isoform X1

    4. XM_047428240.1 → XP_047284196.1  transmembrane protein 132B isoform X1

    5. XM_047428239.1 → XP_047284195.1  transmembrane protein 132B isoform X1

    6. XM_047428242.1 → XP_047284198.1  transmembrane protein 132B isoform X1

    7. XM_017018767.2 → XP_016874256.1  transmembrane protein 132B isoform X1

    8. XM_047428244.1 → XP_047284200.1  transmembrane protein 132B isoform X2

    9. XM_011537854.3 → XP_011536156.1  transmembrane protein 132B isoform X3

      See identical proteins and their annotated locations for XP_011536156.1

      UniProtKB/Swiss-Prot
      Q14DG7
      Conserved Domains (2) summary
      pfam15706
      Location:382 → 465
      TMEM132D_C; Mature oligodendrocyte transmembrane protein, TMEM132D, C-term
      pfam16070
      Location:1 → 282
      TMEM132; Transmembrane protein family 132

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      125194368..125670799
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371001.1 → XP_054226976.1  transmembrane protein 132B isoform X4

    2. XM_054370998.1 → XP_054226973.1  transmembrane protein 132B isoform X1

    3. XM_054370997.1 → XP_054226972.1  transmembrane protein 132B isoform X1

    4. XM_054370996.1 → XP_054226971.1  transmembrane protein 132B isoform X1

    5. XM_054370995.1 → XP_054226970.1  transmembrane protein 132B isoform X1

    6. XM_054370999.1 → XP_054226974.1  transmembrane protein 132B isoform X1

    7. XM_054371000.1 → XP_054226975.1  transmembrane protein 132B isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14DG7.2 GenPept UniProtKB/Swiss-Prot:Q14DG7

    Gene LinkOut

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

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