TMEM199 - transmembrane protein 199 Gene

Also Known as VPH2; CDG2P; VMA12; C17orf32

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 147007

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	References	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	References	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

TMEM199 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TMEM199	Q8N511	JAGN1	Homo sapiens	Q8N5M9	Y2H Prey Pooling	32296183
Intra	TMEM199	Q8N511	JAGN1	Homo sapiens	Q8N5M9	Validated Y2H	32296183
Intra	TMEM199	Q8N511	JAGN1	Homo sapiens	Q8N5M9	Y2H Array	32296183
Intra	TMEM199	Q8N511	CD300A	Homo sapiens	Q9UGN4	Validated Y2H	32296183
Intra	TMEM199	Q8N511	CD300A	Homo sapiens	Q9UGN4	Y2H Array	32296183
Intra	TMEM199	Q8N511	CD300A	Homo sapiens	Q9UGN4	Y2H Prey Pooling	32296183
Intra	TMEM199	Q8N511	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	TMEM199	Q8N511	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Intra	TMEM199	Q8N511	SLC10A4	Homo sapiens	Q96EP9	Y2H Prey Pooling	32296183
Intra	TMEM199	Q8N511	SLC10A4	Homo sapiens	Q96EP9	Validated Y2H	32296183
Intra	TMEM199	Q8N511	SLC10A4	Homo sapiens	Q96EP9	Y2H Array	32296183
Intra	TMEM199	Q8N511	ELOVL4	Homo sapiens	Q9GZR5	Y2H Prey Pooling	32296183
Intra	TMEM199	Q8N511	ELOVL4	Homo sapiens	Q9GZR5	Validated Y2H	32296183
Intra	TMEM199	Q8N511	ELOVL4	Homo sapiens	Q9GZR5	Y2H Array	32296183
Intra	TMEM199	Q8N511	ERLIN1	Homo sapiens	O75477	Y2H Prey Pooling	25416956
Intra	TMEM199	Q8N511	IFNGR2	Homo sapiens	P38484	Y2H Prey Pooling	32296183
Intra	TMEM199	Q8N511	IFNGR2	Homo sapiens	P38484	Y2H Array	32296183
Intra	TMEM199	Q8N511	EBP	Homo sapiens	Q15125	Y2H Array	32296183
Intra	TMEM199	Q8N511	EBP	Homo sapiens	Q15125	Y2H Prey Pooling	32296183
Intra	TMEM199	Q8N511	TIMMDC1	Homo sapiens	Q9NPL8	Validated Y2H	32296183
Intra	TMEM199	Q8N511	TIMMDC1	Homo sapiens	Q9NPL8	Y2H Array	32296183
Intra	TMEM199	Q8N511	TIMMDC1	Homo sapiens	Q9NPL8	Y2H Prey Pooling	32296183
Intra	TMEM199	Q8N511	BIK	Homo sapiens	Q13323	Y2H Prey Pooling	32296183
Intra	TMEM199	Q8N511	BIK	Homo sapiens	Q13323	Y2H Array	32296183
Intra	TMEM199	Q8N511	STX1A	Homo sapiens	Q16623	Y2H Array	32296183
Intra	TMEM199	Q8N511	STX1A	Homo sapiens	Q16623	Y2H Prey Pooling	32296183
Intra	TMEM199	Q8N511	STX4	Homo sapiens	Q12846	Y2H Array	32296183
Intra	TMEM199	Q8N511	STX4	Homo sapiens	Q12846	Y2H Prey Pooling	32296183
Intra	TMEM199	Q8N511	KASH5	Homo sapiens	Q8N6L0	Y2H Array	25416956
Intra	TMEM199	Q8N511	REEP4	Homo sapiens	Q9H6H4	Y2H Prey Pooling	32296183
Intra	TMEM199	Q8N511	REEP4	Homo sapiens	Q9H6H4	Validated Y2H	32296183
Intra	TMEM199	Q8N511	REEP4	Homo sapiens	Q9H6H4	Y2H Array	32296183
Intra	TMEM199	Q8N511	TMEM14B	Homo sapiens	Q9NUH8	Y2H Prey Pooling	32296183
Intra	TMEM199	Q8N511	TMEM14B	Homo sapiens	Q9NUH8	Validated Y2H	32296183
Intra	TMEM199	Q8N511	TMEM14B	Homo sapiens	Q9NUH8	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS14693	TMEM199 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	TMEM199	NCBI