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TMEM199 transmembrane protein 199 [ Homo sapiens (human) ]

Gene ID: 147007, updated on 20-Dec-2019

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

Genomic context

See TMEM199 in Genome Data Viewer
Location:
17q11.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (28357647..28363683)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (26684687..26689089)

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

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
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
MedGen: C4225190 OMIM: 616829 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular iron ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to increased oxygen levels IMP
Inferred from Mutant Phenotype
more info
PubMed 
lysosomal lumen acidification IMP
Inferred from Mutant Phenotype
more info
PubMed 
lysosomal protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
vacuolar proton-transporting V-type ATPase complex assembly IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
COPI-coated vesicle membrane IDA
Inferred from Direct Assay
more info
PubMed 
cell IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum-Golgi intermediate compartment membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lysosome IEA
Inferred from Electronic Annotation
more info
 
vacuolar proton-transporting V-type ATPase complex IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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 109.20191205

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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