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    TMEM150B transmembrane protein 150B [ Homo sapiens (human) ]

    Gene ID: 284417, updated on 11-Apr-2024

    Summary

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    Official Symbol
    TMEM150Bprovided by HGNC
    Official Full Name
    transmembrane protein 150Bprovided by HGNC
    Primary source
    HGNC:HGNC:34415
    See related
    Ensembl:ENSG00000180061 MIM:617291; AllianceGenome:HGNC:34415
    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
    TTN2; DRAM3; TMEM224
    Summary
    This gene encodes a protein that belongs to the DRAM (damage-regulated autophagy modulator) family of membrane-spanning proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
    Expression
    Biased expression in duodenum (RPKM 9.7), small intestine (RPKM 9.3) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19q13.42
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55309444..55325341, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58404966..58429532, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55824169..55836709, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene protein phosphatase 6 regulatory subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15079 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15080 Neighboring gene microRNA 6803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15081 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15083 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15084 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:55768465-55768658 Neighboring gene Sharpr-MPRA regulatory region 13763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15087 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55781781-55782280 Neighboring gene HSPA (Hsp70) binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55789069-55789569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15089 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11021 Neighboring gene BR serine/threonine kinase 1 Neighboring gene Sharpr-MPRA regulatory region 11129 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55824387-55824912 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55849388-55850162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55850163-55850936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15090 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11023 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55855204-55856008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55856009-55856814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55858005-55858699 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11024 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11025 Neighboring gene lysine methyltransferase 5C Neighboring gene cytochrome c oxidase subunit 6B2

    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
    • 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. Variation analysis of theTMEM150B gene in Chinese women with premature ovarian insufficiency. Shao T, et al. Reprod Biomed Online, 2019 Mar. PMID 30704953
    2. Another DRAM involved in autophagy and cell death. Mrschtik M, et al. Autophagy, 2016. PMID 27046253, Free PMC Article
    3. DRAM-3 modulates autophagy and promotes cell survival in the absence of glucose. Mrschtik M, et al. Cell Death Differ, 2015 Oct. PMID 25929859, Free PMC Article
    4. Tentonin 3/TMEM150c Confers Distinct Mechanosensitive Currents in Dorsal-Root Ganglion Neurons with Proprioceptive Function. Hong GS, et al. Neuron, 2016 Jul 6. PMID 27321926
    5. Plasticity of PI4KIIIα interactions at the plasma membrane. Chung J, et al. EMBO Rep, 2015 Mar. PMID 25608530, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    A genome-wide association study of early menopause and the combined impact of identified variants.
    EBI GWAS Catalog
    Loci at chromosomes 13, 19 and 20 influence age at natural menopause.
    EBI GWAS Catalog
    Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
    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

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in autophagosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    modulator of macroautophagy TMEM150B
    Names
    DRAM-Related/Associated Member 3
    hCG1651476
    protein DRAM-3
    tentonin 2
    transmembrane protein 224
    transmembrane protein LOC284417

    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.

    mRNA and Protein(s)

    1. NM_001085488.3 → NP_001078957.1  modulator of macroautophagy TMEM150B isoform a

      See identical proteins and their annotated locations for NP_001078957.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform a).
      Source sequence(s)
      AC020922, AU311823, BC171893
      Consensus CDS
      CCDS42629.1
      UniProtKB/Swiss-Prot
      A6NC51, B7ZW71
      Conserved Domains (1) summary
      pfam10277
      Location:4 → 206
      Frag1; Frag1/DRAM/Sfk1 family

    2. NM_001282011.2 → NP_001268940.1  modulator of macroautophagy TMEM150B isoform a

      See identical proteins and their annotated locations for NP_001268940.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein (isoform a).
      Source sequence(s)
      AC020922, AU311823, BC171904
      Consensus CDS
      CCDS42629.1
      UniProtKB/Swiss-Prot
      A6NC51, B7ZW71
      Related
      ENSP00000320757.4, ENST00000326652.9
      Conserved Domains (1) summary
      pfam10277
      Location:4 → 206
      Frag1; Frag1/DRAM/Sfk1 family

    RNA

    1. NR_104066.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC020922, AU311823, BC171901, BC171904
      Related
      ENST00000586609.5

    2. NR_104071.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon and uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC020922, AU311823, BC171893
      Related
      ENST00000592603.5

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      55309444..55325341 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526850.4 → XP_011525152.1  modulator of macroautophagy TMEM150B isoform X2

      Conserved Domains (1) summary
      pfam10277
      Location:4 → 168
      Frag1; Frag1/DRAM/Sfk1 family

    2. XM_047438674.1 → XP_047294630.1  modulator of macroautophagy TMEM150B isoform X1

      UniProtKB/Swiss-Prot
      A6NC51, B7ZW71

    3. XM_047438669.1 → XP_047294625.1  modulator of macroautophagy TMEM150B isoform X1

      UniProtKB/Swiss-Prot
      A6NC51, B7ZW71

    4. XM_017026667.3 → XP_016882156.1  modulator of macroautophagy TMEM150B isoform X1

      UniProtKB/Swiss-Prot
      A6NC51, B7ZW71
      Conserved Domains (1) summary
      pfam10277
      Location:4 → 206
      Frag1; Frag1/DRAM/Sfk1 family

    5. XM_047438673.1 → XP_047294629.1  modulator of macroautophagy TMEM150B isoform X1

      UniProtKB/Swiss-Prot
      A6NC51, B7ZW71

    6. XM_005258812.5 → XP_005258869.1  modulator of macroautophagy TMEM150B isoform X1

      See identical proteins and their annotated locations for XP_005258869.1

      UniProtKB/Swiss-Prot
      A6NC51, B7ZW71
      Conserved Domains (1) summary
      pfam10277
      Location:4 → 206
      Frag1; Frag1/DRAM/Sfk1 family

    7. XM_047438675.1 → XP_047294631.1  modulator of macroautophagy TMEM150B isoform X3

    8. XM_047438672.1 → XP_047294628.1  modulator of macroautophagy TMEM150B isoform X1

      UniProtKB/Swiss-Prot
      A6NC51, B7ZW71

    9. XM_047438668.1 → XP_047294624.1  modulator of macroautophagy TMEM150B isoform X1

      UniProtKB/Swiss-Prot
      A6NC51, B7ZW71

    10. XM_011526857.3 → XP_011525159.1  modulator of macroautophagy TMEM150B isoform X3

      Conserved Domains (1) summary
      pfam10277
      Location:1 → 146
      Frag1; Frag1/DRAM/Sfk1 family

    11. XM_047438671.1 → XP_047294627.1  modulator of macroautophagy TMEM150B isoform X1

      UniProtKB/Swiss-Prot
      A6NC51, B7ZW71

    12. XM_011526856.4 → XP_011525158.1  modulator of macroautophagy TMEM150B isoform X1

      See identical proteins and their annotated locations for XP_011525158.1

      UniProtKB/Swiss-Prot
      A6NC51, B7ZW71
      Conserved Domains (1) summary
      pfam10277
      Location:4 → 206
      Frag1; Frag1/DRAM/Sfk1 family

    13. XM_011526854.4 → XP_011525156.1  modulator of macroautophagy TMEM150B isoform X1

      See identical proteins and their annotated locations for XP_011525156.1

      UniProtKB/Swiss-Prot
      A6NC51, B7ZW71
      Conserved Domains (1) summary
      pfam10277
      Location:4 → 206
      Frag1; Frag1/DRAM/Sfk1 family

    14. XM_047438670.1 → XP_047294626.1  modulator of macroautophagy TMEM150B isoform X1

      UniProtKB/Swiss-Prot
      A6NC51, B7ZW71

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      58404966..58429532 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320683.1 → XP_054176658.1  modulator of macroautophagy TMEM150B isoform X2

    2. XM_054320691.1 → XP_054176666.1  modulator of macroautophagy TMEM150B isoform X2

    3. XM_054320686.1 → XP_054176661.1  modulator of macroautophagy TMEM150B isoform X1

    4. XM_054320687.1 → XP_054176662.1  modulator of macroautophagy TMEM150B isoform X1

    5. XM_054320685.1 → XP_054176660.1  modulator of macroautophagy TMEM150B isoform X1

    6. XM_054320688.1 → XP_054176663.1  modulator of macroautophagy TMEM150B isoform X1

    7. XM_054320690.1 → XP_054176665.1  modulator of macroautophagy TMEM150B isoform X1

    8. XM_054320689.1 → XP_054176664.1  modulator of macroautophagy TMEM150B isoform X1

    9. XM_054320692.1 → XP_054176667.1  modulator of macroautophagy TMEM150B isoform X3

    10. XM_054320684.1 → XP_054176659.1  modulator of macroautophagy TMEM150B isoform X4

    11. XM_054320693.1 → XP_054176668.1  modulator of macroautophagy TMEM150B isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NC51.1 GenPept UniProtKB/Swiss-Prot:A6NC51

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