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TMEM199 transmembrane protein 199 [ Homo sapiens (human) ]

Gene ID: 147007, updated on 5-May-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

Location:
17q11.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (28357647..28363683)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (29299496..29305534)
105.20220307 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)

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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
    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_2023_10

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)