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    TMEM199 transmembrane protein 199 [ Homo sapiens (human) ]

    Gene ID: 147007, updated on 4-Jul-2021

    Summary

    Official Symbol
    TMEM199provided by HGNC
    Official Full Name
    transmembrane protein 199provided by HGNC
    Primary source
    HGNC:HGNC:18085
    See related
    Ensembl:ENSG00000244045 MIM:616815
    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
    VPH2; CDG2P; VMA12; C17orf32
    Summary
    The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) in some human cells. The encoded protein shares some homology with the yeast protein Vma12. Defects in this gene are a cause of congenital disorder of glycosylation, type IIp. [provided by RefSeq, Mar 2016]
    Expression
    Ubiquitous expression in kidney (RPKM 6.4), thyroid (RPKM 6.1) and 25 other tissues See more
    Orthologs
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    Genomic context

    See TMEM199 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (28357647..28363683)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (26684670..26690705)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 97 Neighboring gene intraflagellar transport 20 Neighboring gene TNF alpha induced protein 1 Neighboring gene DNA polymerase delta interacting protein 2 Neighboring gene microRNA 4723 Neighboring gene SEBOX homeobox Neighboring gene vitronectin Neighboring gene sterile alpha and TIR motif containing 1 Neighboring gene solute carrier family 46 member 1

    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
    Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels.
    GeneReviews: Not available
    TMEM199-CDG
    MedGen: C4225190 OMIM: 616829 GeneReviews: Not available
    Compare labs

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: SARM1

    Homology

    Clone Names

    • MGC45714

    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 COPI-coated vesicle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum-Golgi intermediate compartment membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    part_of vacuolar proton-transporting V-type ATPase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    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_046803.1 RefSeqGene

      Range
      5067..11103
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_152464.3NP_689677.1  transmembrane protein 199

      See identical proteins and their annotated locations for NP_689677.1

      Status: REVIEWED

      Source sequence(s)
      AA279827, AC002094, BC033113, BQ891740, DC327155
      Consensus CDS
      CCDS11228.1
      UniProtKB/Swiss-Prot
      Q8N511
      Related
      ENSP00000292114.3, ENST00000292114.8
      Conserved Domains (1) summary
      pfam11712
      Location:78202
      Vma12; Endoplasmic reticulum-based factor for assembly of V-ATPase

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      28357647..28363683
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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