TMEM199 - transmembrane protein 199 Gene

Homo sapiens

Also known as VPH2; CDG2P; VMA12; C17orf32

Gene ID: 147007 | Gene type: protein coding

About TMEM199

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:28,357,647-28,363,683 (from NCBI)

This gene has 9 transcripts (splice variants), 205 orthologues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 6.4), thyroid (RPKM 6.1) and 25 other tissues.

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]

TMEM199 Products(1)

mRNA	Protein	Name
NM_152464.3	NP_689677.1	transmembrane protein 199

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to increased oxygen levels	IMP IMP: Inferred from mutant phenotype	28296633	GOA
involved in intracellular iron ion homeostasis	IMP IMP: Inferred from mutant phenotype	28296633	GOA
involved in lysosomal lumen acidification	IMP IMP: Inferred from mutant phenotype	28296633	GOA
involved in lysosomal protein catabolic process	IMP IMP: Inferred from mutant phenotype	28296633	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in COPI-coated vesicle membrane	IDA IDA: Inferred from direct assay	26833330	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	28296633	GOA
located in endoplasmic reticulum-Golgi intermediate compartment membrane	IDA IDA: Inferred from direct assay	26833330	GOA
part of vacuolar proton-transporting V-type ATPase complex	IDA IDA: Inferred from direct assay	28296633	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TMEM199 Protein Structure

Vma12

0
100
208 a.a.

Protein Preferred Names

Protein Names

transmembrane protein 199

Related Diseases

Diseases

Alias

Congenital Disorder Of Glycosylation, Type Iip

CDG2P	Tmem199-Cdg
Cdg Iip	Congenital Disorder Of Glycosylation Type Iip
Cdgiip	Carbohydrate Deficient Glycoprotein Syndrome Type Iip
Cdg Syndrome Type Iip	Congenital Disorder Of Glycosylation Type 2p
Cdg-Iip	Cdgiidp
Congenital Disorder Of Glycosylation 2p

Immunodeficiency 47

Congenital Disorder Of Glycosylation Type Ii	CDG2E
Congenital Disorder Of Glycosylation Type Iie	IMD47
Cdg2s	Cdg Iis
Cdgiis	Immunodeficiency And Hepatopathy With Or Without Neurologic Features
Congenital Disorder Of Glycosylation, Type Ii	CDG1I
Congenital Disorder Of Glycosylation, Type Iie	Cdg Iie
Congenital Disorder Of Glycosylation Type 2e	Congenital Disorder Of Glycosylation, Type Iis
Cdg Ii	Cdgii
Cdgiie	Carbohydrate Deficient Glycoprotein Syndrome Type Iie
Cdg Syndrome Type Iie	Congenital Disorder Of Glycosylation Ii
Congenital Disorder Of Glycosylation 1i	Cdg-Iie
Alg2-Cdg	Cdg-Ii
Glycosylation, Congenital Disorder Of, Type Ii	Cdgiide
Congenital Disorder Of Glycosylation Type Iis	Cog7-Cdg
Cdg Syndrome Type Ii	Carbohydrate Deficient Glycoprotein Syndrome Type Ii
Congenital Disorder Of Glycosylation Type 1i	Mannosyltransferase 2 Deficiency
Congenital Disorder Of Glycosylation 2e	Congenital Disorder Of Glycosylation 2s
Congenital Disorders Of Glycosylation Type Ii	Glycosylation, Congenital Disorder Of, Type Iie
Immunodeficiency, Type 47	Congenital Disorder Of Glycosylation Type 2a

Congenital Disorder Of Glycosylation, Type Iio

CDG2O	Ccdc115-Cdg
Cdg Iio	Congenital Disorder Of Glycosylation Type Iio
Cdgiio	Carbohydrate Deficient Glycoprotein Syndrome Type Iio
Cdg Syndrome Type Iio	Congenital Disorder Of Glycosylation Type 2o
Cdg-Iio	Cdgiido
Congenital Disorder Of Glycosylation 2o	Glycosylation, Congenital Disorder Of, Type Iio

Cholesterol Ester Storage Disease

Myopathy, X-Linked, With Excessive Autophagy

X-Linked Myopathy With Excessive Autophagy	Xmea
MEAX	Vacuolar Myopathy

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation	CDG1N
Congenital Disorders Of Glycosylation	Cdg In
Cdgin	Congenital Disorder Of Glycosylation 1n
Carbohydrate-Deficient Glycoprotein Syndrome	Cdg
Rft1-Cdg	Cdg-In
Congenital Disorder Of Glycosylation Type In	Carbohydrate Deficient Glycoprotein Syndrome
Cdg Syndrome	Congenital Disorder Of Glycosylation In
Carbohydrate-Deficient Glycoprotein Syndromes	Cdg Syndrome Type In
Carbohydrate Deficient Glycoprotein Syndrome Type In	Congenital Disorder Of Glycosylation Type 1n
Man5glcnac2-Pp-Dol Flippase Deficiency	Glycosylation, Congenital Disorder Of
Glycosylation, Congenital Disorder Of, Type In

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14693	TMEM199 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TMEM199	MGD	MGI:2144113
Bos taurus	TMEM199	VGNC	VGNC:36020
Rattus norvegicus	TMEM199	RGD	RGD:1566425
Macaca mulatta	TMEM199	VGNC	VGNC:79113
Canis familiaris	TMEM199	VGNC	VGNC:47517
Felis catus	TMEM199	VGNC	VGNC:66303

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