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transmembrane protein 199

Summary

Gene Symbol

TMEM199

Aliases

MGC45714
VMA12
VPH2

Organism

Homo sapiens (human)

External Links

NCBI Gene

147007

HGNC

18085

KEGG Gene ID

hsa:147007

PubChem

147007

Alliance of Genome Resources

HGNC:18085

Annotation

Keyword

Acetylation
Congenital disorder of glycosylation
Cytoplasmic vesicle
Disease variant
Endoplasmic reticulum
Reference proteome
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q8N511

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
vacuolar proton-transporting V-type ATPase complex assembly	IEA
intracellular iron ion homeostasis	IMP	28296633
lysosomal lumen acidification	IMP	28296633
lysosomal protein catabolic process	IMP	28296633
cellular response to increased oxygen levels	IMP	28296633

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

catabolic process [inference]

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

primary metabolic process [inference]

protein metabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

protein metabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

cellular process [inference]

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to oxygen levels [inference]

cellular response to increased oxygen levels

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cellular component assembly [inference]

protein-containing complex assembly [inference]

proton-transporting two-sector ATPase complex assembly [inference]

proton-transporting V-type ATPase complex assembly [inference]

vacuolar proton-transporting V-type ATPase complex assembly

protein-containing complex organization [inference]

protein-containing complex assembly [inference]

proton-transporting two-sector ATPase complex assembly [inference]

proton-transporting V-type ATPase complex assembly [inference]

vacuolar proton-transporting V-type ATPase complex assembly

homeostatic process [inference]

cellular homeostasis [inference]

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular iron ion homeostasis

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction [inference]

vacuolar acidification [inference]

lysosomal lumen acidification

chemical homeostasis [inference]

monoatomic ion homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular iron ion homeostasis

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction [inference]

vacuolar acidification [inference]

lysosomal lumen acidification

monoatomic cation homeostasis [inference]

regulation of pH [inference]

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction [inference]

vacuolar acidification [inference]

lysosomal lumen acidification

intracellular monoatomic cation homeostasis [inference]

intracellular iron ion homeostasis

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction [inference]

vacuolar acidification [inference]

lysosomal lumen acidification

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular iron ion homeostasis

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction [inference]

vacuolar acidification [inference]

lysosomal lumen acidification

inorganic ion homeostasis [inference]

intracellular iron ion homeostasis

response to stimulus [inference]

response to abiotic stimulus [inference]

response to oxygen levels [inference]

response to increased oxygen levels [inference]

cellular response to increased oxygen levels

cellular response to oxygen levels [inference]

cellular response to increased oxygen levels

response to chemical [inference]

cellular response to chemical stimulus [inference]

cellular response to oxygen levels [inference]

cellular response to increased oxygen levels

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to oxygen levels [inference]

cellular response to increased oxygen levels

biological regulation [inference]

regulation of pH [inference]

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction [inference]

vacuolar acidification [inference]

lysosomal lumen acidification

regulation of biological quality [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction [inference]

vacuolar acidification [inference]

lysosomal lumen acidification

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
endoplasmic reticulum-Golgi intermediate compartment membrane	IDA	26833330
endoplasmic reticulum	IDA	28296633
COPI-coated vesicle membrane	IDA	26833330
endoplasmic reticulum membrane	IEA
endomembrane system	IBA

GO Hierarchy

cellular component

protein-containing complex [inference]

membrane protein complex [inference]

proton-transporting two-sector ATPase complex [inference]

proton-transporting V-type ATPase complex [inference]

vacuolar proton-transporting V-type ATPase complex

catalytic complex [inference]

ATPase complex [inference]

proton-transporting two-sector ATPase complex [inference]

proton-transporting V-type ATPase complex [inference]

vacuolar proton-transporting V-type ATPase complex

cellular anatomical entity [inference]

endomembrane system

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

vesicle membrane [inference]

cytoplasmic vesicle membrane [inference]

Golgi-associated vesicle membrane [inference]

COPI-coated vesicle membrane

coated vesicle membrane [inference]

COPI-coated vesicle membrane

bounding membrane of organelle [inference]

Golgi-associated vesicle membrane [inference]

COPI-coated vesicle membrane

coated vesicle membrane [inference]

COPI-coated vesicle membrane

endoplasmic reticulum-Golgi intermediate compartment membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

endoplasmic reticulum

Displaying **all 2** entries
GO Term	Evidence Code	PMID
oxysterol binding	ISS
protein binding	IPI	25416956 32296183

GO Hierarchy

molecular function

binding [inference]

protein binding

lipid binding [inference]

steroid binding [inference]

sterol binding [inference]

oxysterol binding

organic cyclic compound binding [inference]

steroid binding [inference]

sterol binding [inference]

oxysterol binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000244045

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K23542

Name

TMEM199 family protein

References

28296633

Disease

Disease Ontology

Displaying **all 8** entries
DO ID	Disease Name	Source
DOID:0060262	gallbladder disease	DisGeNET
DOID:0070268	congenital disorder of glycosylation type IIp	DisGeNET Alliance of Genome Resources
DOID:0080470	developmental and epileptic encephalopathy 36	DisGeNET
DOID:1508	candidiasis	DisGeNET
DOID:1612	breast cancer	DisGeNET DisGeNET
DOID:3459	breast carcinoma	DisGeNET
DOID:409	liver disease	DisGeNET
DOID:9452	steatotic liver disease	DisGeNET DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 12 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0001263	Global developmental delay
HP:0001290	Generalized hypotonia
HP:0001397	Hepatic steatosis
HP:0001410	Decreased liver function
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0003124	Hypercholesterolemia
HP:0003141	Increased LDL cholesterol concentration
HP:0003155	Elevated circulating alkaline phosphatase concentration
HP:0010837	Decreased circulating ceruloplasmin concentration

Displaying 1 entry
Disease ID	Disease Name
OMIM:616829	TMEM199-CDG

PubChem Disease

MedGen Diseases

TMEM199-CDG

OMIM Phenotypes

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp; CDG2P

KEGG Diseases

Congenital disorders of glycosylation type II

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **1 - 10** of 77 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	184242	WB:WBGene00017289
Drosophila melanogaster	42617	FB:FBgn0260467
Latimeria chalumnae	102361853		LATCH02733
Danio rerio	100001648	ZFIN:ZDB-GENE-050522-150	DANRE45929
Astyanax mexicanus	103036653		ASTMX04411
Ictalurus punctatus	108277783		ICTPU10475
Electrophorus electricus	113569686		ELEEL06482
Salmo salar	106612664		SALSA140118
Salmo trutta	115163094		SALTR98584
Salmo trutta	115206042		SALTR110335

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements