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TMEM199 transmembrane protein 199 [ Homo sapiens (human) ]

Gene ID: 147007, updated on 5-Sep-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
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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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