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] See more...

Aliases for TMEM199 Gene

Aliases for TMEM199 Gene

  • Transmembrane Protein 199 2 3 4 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 Congenital Disorder Of Glycosylation, Type Iip and Congenital Disorder Of Glycosylation, Type Ii.

UniProtKB/Swiss-Prot Summary for TMEM199 Gene

  • Accessory component of the proton-transporting vacuolar (V)-ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation (PubMed:28296633). May be involved in Golgi homeostasis (PubMed:26833330).

Additional gene information for TMEM199 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM199 Gene

Genomics for TMEM199 Gene

GeneHancer (GH) Regulatory Elements for TMEM199 Gene

Promoters and enhancers for TMEM199 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM199 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM199 gene promoter:
  • AhR
  • Arnt
  • ARP-1
  • CREB
  • IRF-2
  • Lhx3a
  • LHX3b
  • Meis-1
  • Meis-1a
  • Meis-1b

Genomic Locations for TMEM199 Gene

Genomic Locations for TMEM199 Gene
chr17:28,357,581-28,363,683
(GRCh38/hg38)
Size:
6,103 bases
Orientation:
Plus strand
chr17:26,684,604-26,708,716
(GRCh37/hg19)
Size:
24,113 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:
    • Accessory component of the multisubunit proton-transporting vacuolar (V)-ATPase protein pump.

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

Gene Families for TMEM199 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Predicted secreted proteins
  • Transporters

Protein Domains for TMEM199 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM199 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 199 (TM199_HUMAN)
genes like me logo Genes that share domains with TMEM199: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TMEM199 Gene

Function for TMEM199 Gene

Molecular function for TMEM199 Gene

UniProtKB/Swiss-Prot Function:
Accessory component of the proton-transporting vacuolar (V)-ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation (PubMed:28296633). May be involved in Golgi homeostasis (PubMed:26833330).

Phenotypes From GWAS Catalog for TMEM199 Gene

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

Human Phenotype Ontology for TMEM199 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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. Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=Partial colocalization with GOLGB1. {ECO:0000269 PubMed:26833330}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM199 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
lysosome 2
peroxisome 1
golgi apparatus 1
mitochondrion 0
cytosol 0

Gene Ontology (GO) - Cellular Components for TMEM199 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005783 endoplasmic reticulum IDA,IEA 28296633
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM199: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEM199 Gene

Pathways & Interactions for TMEM199 Gene

PathCards logo

SuperPathways for TMEM199 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM199 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006879 cellular iron ion homeostasis IMP 28296633
GO:0007042 lysosomal lumen acidification IMP 28296633
GO:0036295 cellular response to increased oxygen levels IMP 28296633
GO:0070072 vacuolar proton-transporting V-type ATPase complex assembly IEA --
GO:1905146 lysosomal protein catabolic process IMP 28296633
genes like me logo Genes that share ontologies with TMEM199: view

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

Drugs & Compounds for TMEM199 Gene

No Compound Related Data Available

Transcripts for TMEM199 Gene

mRNA/cDNA for TMEM199 Gene

CRISPR Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 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

Evidence on tissue expression from TISSUES for TMEM199 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with TMEM199: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 32
  • 99.68 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM199 33 32
  • 88.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM199 33 32
  • 87.82 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem199 32
  • 85.74 (n)
mouse
(Mus musculus)
Mammalia Tmem199 17 33 32
  • 84.46 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM199 33
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM199 33
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM199 33 32
  • 65.98 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM199 33
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem199 32
  • 59.97 (n)
Str.15198 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.26151 32
zebrafish
(Danio rerio)
Actinopterygii tmem199 33 32
  • 59.42 (n)
OneToOne
Dr.24936 32
fruit fly
(Drosophila melanogaster)
Insecta CG7071 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM199: view image

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 Variation AA Info Type
rs369488804 pathogenic, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp, Congenital disorders of glycosylation type II, Congenital disorder of glycosylation 2P (CDG2P) [MIM:616829] 28,357,690(+) C/A/G/T coding_sequence_variant, missense_variant
rs782531869 pathogenic, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp, Congenital disorders of glycosylation type II, Congenital disorder of glycosylation 2P (CDG2P) [MIM:616829] 28,357,762(+) G/C coding_sequence_variant, missense_variant
rs869025586 pathogenic, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp, Congenital disorders of glycosylation type II, Congenital disorder of glycosylation 2P (CDG2P) [MIM:616829] 28,357,710(+) G/C coding_sequence_variant, missense_variant
rs869025587 pathogenic, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp, Congenital disorders of glycosylation type II 28,360,528(+) G/A splice_acceptor_variant
rs35276012 likely-benign, not provided 28,358,960(+) T/C coding_sequence_variant, missense_variant

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)

Additional Variant Information 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: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for 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 JC … Lefeber DJ (American journal of human genetics 2016) 2 3 4 56
  2. The vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1α prolyl hydroxylation by regulating cellular iron levels. (PMID: 28296633) Miles AL … Nathan JA (eLife 2017) 3 4 56
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  4. The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. (PMID: 30639242) Kovalski JR … Khavari PA (Molecular cell 2019) 3 56
  5. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 56

Products for TMEM199 Gene

Sources for TMEM199 Gene