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Aliases for TMEM199 Gene

Aliases for TMEM199 Gene

  • Transmembrane Protein 199 2 3 5
  • C17orf32 3 4
  • Chromosome 17 Open Reading Frame 32 2
  • CDG2P 3
  • VMA12 3
  • VPH2 3

External Ids for TMEM199 Gene

Previous HGNC Symbols for TMEM199 Gene

  • C17orf32

Previous GeneCards Identifiers for TMEM199 Gene

  • GC17P023709
  • GC17P026684
  • GC17P022893

Summaries for TMEM199 Gene

Entrez Gene Summary for TMEM199 Gene

  • 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]

GeneCards Summary for TMEM199 Gene

TMEM199 (Transmembrane Protein 199) is a Protein Coding gene. Diseases associated with TMEM199 include Tmem199-Cdg and Congenital Disorder Of Glycosylation, Type Ii.

UniProtKB/Swiss-Prot for TMEM199 Gene

  • May be involved in Golgi homeostasis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM199 Gene

Genomics for TMEM199 Gene

Regulatory Elements for TMEM199 Gene

Enhancers for TMEM199 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F028393 0.8 Ensembl ENCODE 11.6 +39.3 39286 5.7 BCOR GTF2F1 TBP TFAP4 TAL1 JUN ZFP64 ZMYM3 RARA POLR2A POLDIP2 VTN SARM1 TMEM199 MIR4723 TNFAIP1 IFT20 FOXN1 UNC119 PIGS
GH17F028317 0.2 ENCODE 9.6 -38.2 -38213 3.7 HDGF CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS TMEM97 SLC46A1 VTN TMEM199 TRAF4 GC17M028717
GH17F028470 0.8 Ensembl ENCODE 4.1 +113.6 113622 1.8 GATA3 TAL1 MLLT1 TMEM199 RPS7P1 SLC13A2
GH17F028436 0.3 FANTOM5 2 +79.2 79235 0.2 ATF3 BHLHE40 MAX NR3C1 SP7 SLC46A1 FOXN1 NEK8 SUPT6H TMEM199 SDF2 LOC101060112 H3F3BP2
GH17F028355 0.8 ENCODE 0.8 -0.3 -296 2.8 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 SP3 ZHX2 MXD4 SLC46A1 UNC119 PIGS VTN TRAF4 MIR4723 TMEM199 PIR62966
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TMEM199 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM199 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001343343 -81 1801 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 SP3 ZHX2 MXD4

Genomic Location for TMEM199 Gene

Chromosome:
17
Start:
28,357,581 bp from pter
End:
28,363,683 bp from pter
Size:
6,103 bases
Orientation:
Plus strand

Genomic View for TMEM199 Gene

Genes around TMEM199 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM199 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM199 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM199 Gene

Proteins for TMEM199 Gene

  • Protein details for TMEM199 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N511-TM199_HUMAN
    Recommended name:
    Transmembrane protein 199
    Protein Accession:
    Q8N511

    Protein attributes for TMEM199 Gene

    Size:
    208 amino acids
    Molecular mass:
    23130 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TMEM199 Gene

Post-translational modifications for TMEM199 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMEM199 Gene

No data available for DME Specific Peptides for TMEM199 Gene

Domains & Families for TMEM199 Gene

Protein Domains for TMEM199 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM199 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TMEM199: view

No data available for Gene Families and UniProtKB/Swiss-Prot for TMEM199 Gene

Function for TMEM199 Gene

Molecular function for TMEM199 Gene

UniProtKB/Swiss-Prot Function:
May be involved in Golgi homeostasis.

Gene Ontology (GO) - Molecular Function for TMEM199 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with TMEM199: view
genes like me logo Genes that share phenotypes with TMEM199: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM199 Gene

Localization for TMEM199 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM199 Gene

Cytoplasmic vesicle, COPI-coated vesicle membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein. Note=Partial colocalization with GOLGB1. {ECO:0000269 PubMed:26833330}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM199 Gene COMPARTMENTS Subcellular localization image for TMEM199 gene
Compartment Confidence
golgi apparatus 2
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for TMEM199 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0030663 COPI-coated vesicle membrane IEA,IDA 26833330
GO:0031410 cytoplasmic vesicle IEA --
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane IEA,IDA 26833330
genes like me logo Genes that share ontologies with TMEM199: view

Pathways & Interactions for TMEM199 Gene

SuperPathways for TMEM199 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM199 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM199 Gene

Transcripts for TMEM199 Gene

Unigene Clusters for TMEM199 Gene

Transmembrane protein 199:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM199 Gene

No ASD Table

Relevant External Links for TMEM199 Gene

GeneLoc Exon Structure for
TMEM199
ECgene alternative splicing isoforms for
TMEM199

Expression for TMEM199 Gene

mRNA expression in normal human tissues for TMEM199 Gene

Protein differential expression in normal tissues from HIPED for TMEM199 Gene

This gene is overexpressed in Nasal epithelium (52.2) and Bone (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TMEM199 Gene



Protein tissue co-expression partners for TMEM199 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM199 Gene:

TMEM199

SOURCE GeneReport for Unigene cluster for TMEM199 Gene:

Hs.707906
genes like me logo Genes that share expression patterns with TMEM199: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TMEM199 Gene

Orthologs for TMEM199 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM199 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM199 34 35
  • 99.68 (n)
cow
(Bos Taurus)
Mammalia TMEM199 34 35
  • 88.62 (n)
dog
(Canis familiaris)
Mammalia TMEM199 34 35
  • 87.82 (n)
rat
(Rattus norvegicus)
Mammalia Tmem199 34
  • 85.74 (n)
mouse
(Mus musculus)
Mammalia Tmem199 34 16 35
  • 84.46 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM199 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM199 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM199 34 35
  • 65.98 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM199 35
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem199 34
  • 59.97 (n)
Str.15198 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.26151 34
zebrafish
(Danio rerio)
Actinopterygii tmem199 34 35
  • 59.42 (n)
Dr.24936 34
fruit fly
(Drosophila melanogaster)
Insecta CG7071 35
  • 19 (a)
OneToOne
Species where no ortholog for TMEM199 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM199 Gene

ENSEMBL:
Gene Tree for TMEM199 (if available)
TreeFam:
Gene Tree for TMEM199 (if available)

Paralogs for TMEM199 Gene

No data available for Paralogs for TMEM199 Gene

Variants for TMEM199 Gene

Sequence variations from dbSNP and Humsavar for TMEM199 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs369488804 Congenital disorder of glycosylation 2P (CDG2P) [MIM:616829], Pathogenic 28,357,690(+) GCTTG(C/G/T)GGGCG upstream-variant-2KB, reference, missense
rs782531869 Congenital disorder of glycosylation 2P (CDG2P) [MIM:616829], Pathogenic 28,357,762(+) GCTGC(C/G)GGCCG upstream-variant-2KB, reference, missense
rs869025586 Congenital disorder of glycosylation 2P (CDG2P) [MIM:616829], Pathogenic 28,357,710(+) TGCGT(C/G)CTTTG upstream-variant-2KB, reference, missense
rs869025587 Pathogenic 28,360,528(+) TCCCA(A/G)GATAC upstream-variant-2KB, splice-acceptor-variant
rs10664819 -- 28,357,507(+) GGCGG(-/GC)TTCCG nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for TMEM199 Gene

Variant ID Type Subtype PubMed ID
nsv1056839 CNV gain 25217958
nsv2017 CNV insertion 18451855
nsv519388 CNV loss 19592680
nsv574653 CNV gain 21841781

Variation tolerance for TMEM199 Gene

Residual Variation Intolerance Score: 59.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.36; 76.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM199 Gene

Human Gene Mutation Database (HGMD)
TMEM199
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM199

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM199 Gene

Disorders for TMEM199 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TMEM199 Gene - From: ClinVar and Swiss-Prot

Disorder Aliases PubMed IDs
tmem199-cdg
  • cdg syndrome type iip
congenital disorder of glycosylation, type ii
  • congenital disorder of glycosylation, type iie
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TM199_HUMAN
  • Congenital disorder of glycosylation 2P (CDG2P) [MIM:616829]: A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2P is characterized by mild metabolic dysfunction, primarily affecting the liver. Psychomotor development is normal. {ECO:0000269 PubMed:26833330}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TMEM199

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM199
genes like me logo Genes that share disorders with TMEM199: view

No data available for Genatlas for TMEM199 Gene

Publications for TMEM199 Gene

  1. TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. (PMID: 26833330) Jansen J.C. … Lefeber D.J. (Am. J. Hum. Genet. 2016) 2 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3 64

Products for TMEM199 Gene

Sources for TMEM199 Gene

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