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    TMEM127 transmembrane protein 127 [ Homo sapiens (human) ]

    Gene ID: 55654, updated on 21-May-2024

    Summary

    Official Symbol
    TMEM127provided by HGNC
    Official Full Name
    transmembrane protein 127provided by HGNC
    Primary source
    HGNC:HGNC:26038
    See related
    Ensembl:ENSG00000135956 MIM:613403; AllianceGenome:HGNC:26038
    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
    Summary
    This gene encodes a transmembrane protein with four predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2022]
    Expression
    Ubiquitous expression in heart (RPKM 15.7), esophagus (RPKM 13.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TMEM127 in Genome Data Viewer
    Location:
    2q11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (96248514..96265997, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (96755122..96772605, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (96914252..96931735, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene StAR related lipid transfer domain containing 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11757 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:96874259-96874849 Neighboring gene STARD7 antisense RNA 1 Neighboring gene small nucleolar RNA, H/ACA box 112 Neighboring gene Sharpr-MPRA regulatory region 4718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16209 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16210 Neighboring gene VISTA enhancer hs1919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11760 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11761 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16213 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:96933152-96934351 Neighboring gene cytosolic iron-sulfur assembly component 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:96944520-96945719 Neighboring gene small nuclear ribonucleoprotein U5 subunit 200 Neighboring gene Sharpr-MPRA regulatory region 61

    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
    Pheochromocytoma Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-07-13)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2021-07-13)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of transmembrane protein 127 (TMEM127; FLJ20507) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20507, FLJ22257

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables small GTPase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in endosome organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of TOR signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of TOR signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    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_027695.1 RefSeqGene

      Range
      5001..20806
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_528

    mRNA and Protein(s)

    1. NM_001193304.3NP_001180233.1  transmembrane protein 127 isoform 1

      See identical proteins and their annotated locations for NP_001180233.1

      Status: REVIEWED

      Source sequence(s)
      AC012307, BC028575, DA212468
      Consensus CDS
      CCDS2018.1
      UniProtKB/Swiss-Prot
      D3DXH0, O75204
      UniProtKB/TrEMBL
      B4DDP4
      Related
      ENSP00000416660.1, ENST00000432959.1
      Conserved Domains (1) summary
      cl21598
      Location:38192
      Claudin_2; PMP-22/EMP/MP20/Claudin tight junction
    2. NM_001407282.1NP_001394211.1  transmembrane protein 127 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC012307
      Consensus CDS
      CCDS92812.1
      UniProtKB/TrEMBL
      C9J4H2
      Related
      ENSP00000411810.1, ENST00000435268.2
    3. NM_001407283.1NP_001394212.1  transmembrane protein 127 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC012307, AC021188
      Consensus CDS
      CCDS92812.1
      UniProtKB/TrEMBL
      C9J4H2
      Related
      ENSP00000519053.1, ENST00000713752.1
    4. NM_017849.4NP_060319.1  transmembrane protein 127 isoform 1

      See identical proteins and their annotated locations for NP_060319.1

      Status: REVIEWED

      Source sequence(s)
      AC012307, BC039892, DA212468
      Consensus CDS
      CCDS2018.1
      UniProtKB/Swiss-Prot
      D3DXH0, O75204
      UniProtKB/TrEMBL
      B4DDP4
      Related
      ENSP00000258439.3, ENST00000258439.8
      Conserved Domains (1) summary
      cl21598
      Location:38192
      Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      96248514..96265997 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      96755122..96772605 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032218.1: Suppressed sequence

      Description
      NM_032218.1: This RefSeq was permanently suppressed because it is primarily UTR sequence.