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    TMEM199 transmembrane protein 199 [ Homo sapiens (human) ]

    Gene ID: 147007, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:18085
    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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (28357647..28363683)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (29299496..29305534)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (26684670..26690705)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr17:26662195-26662386 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8335 Neighboring gene TNF alpha induced protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:26671214-26671717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:26672221-26672724 Neighboring gene uncharacterized LOC124903963 Neighboring gene DNA polymerase delta interacting protein 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:26683953-26684715 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11924 Neighboring gene microRNA 4723 Neighboring gene SEBOX homeobox Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8337 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8338 Neighboring gene vitronectin Neighboring gene sterile alpha and TIR motif containing 1 Neighboring gene MPRA-validated peak2778 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11925 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:26722700-26723383 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:26724067-26724750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11926 Neighboring gene solute carrier family 46 member 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:26729147-26729889

    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
    TMEM199-CDG
    MedGen: C4225190 OMIM: 616829 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: SARM1

    Clone Names

    • MGC45714

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables oxysterol binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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
     
    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 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)

    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_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
      UniProtKB/TrEMBL
      A8K610, Q53EQ5
      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: 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_000017.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      29299496..29305534
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)