TMEM199 - transmembrane protein 199 Gene

中文名称：跨膜蛋白 199

种属: Homo sapiens

同用名: VPH2; CDG2P; VMA12; C17orf32

基因 ID: 147007 | 基因类型: protein coding

关于 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.

功能概要

已观察到由该基因编码的蛋白质定位于某些人类细胞中的内质网 (ER) -高尔基中间室 (ERGIC) 和外壳蛋白复合物 I (COPI) 。编码的蛋白质与酵母蛋白 Vma12 有一些同源性。该基因的缺陷是导致先天性糖基化障碍 IIp 型的原因。[RefSeq 提供，2016 年 3 月]

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 基因产物(1)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cellular response to increased oxygen levels	IMP IMP: 通过突变表型推断	28296633	GOA
involved in intracellular iron ion homeostasis	IMP IMP: 通过突变表型推断	28296633	GOA
involved in lysosomal lumen acidification	IMP IMP: 通过突变表型推断	28296633	GOA
involved in lysosomal protein catabolic process	IMP IMP: 通过突变表型推断	28296633	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in COPI-coated vesicle membrane	IDA IDA: 通过直接分析推断	26833330	GOA
located in endoplasmic reticulum	IDA IDA: 通过直接分析推断	28296633	GOA
located in endoplasmic reticulum-Golgi intermediate compartment membrane	IDA IDA: 通过直接分析推断	26833330	GOA
part of vacuolar proton-transporting V-type ATPase complex	IDA IDA: 通过直接分析推断	28296633	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

TMEM199 蛋白结构

Vma12

0
100
208 a.a.

蛋白主名

其他名称

transmembrane protein 199

TMEM199 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	TMEM199	Q8N511	JAGN1	Homo sapiens	Q8N5M9	Y2H Prey Pooling	32296183
种属内	TMEM199	Q8N511	JAGN1	Homo sapiens	Q8N5M9	Validated Y2H	32296183
种属内	TMEM199	Q8N511	JAGN1	Homo sapiens	Q8N5M9	Y2H Array	32296183
种属内	TMEM199	Q8N511	CD300A	Homo sapiens	Q9UGN4	Validated Y2H	32296183
种属内	TMEM199	Q8N511	CD300A	Homo sapiens	Q9UGN4	Y2H Array	32296183
种属内	TMEM199	Q8N511	CD300A	Homo sapiens	Q9UGN4	Y2H Prey Pooling	32296183
种属内	TMEM199	Q8N511	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
种属内	TMEM199	Q8N511	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
种属内	TMEM199	Q8N511	SLC10A4	Homo sapiens	Q96EP9	Y2H Prey Pooling	32296183
种属内	TMEM199	Q8N511	SLC10A4	Homo sapiens	Q96EP9	Validated Y2H	32296183
种属内	TMEM199	Q8N511	SLC10A4	Homo sapiens	Q96EP9	Y2H Array	32296183
种属内	TMEM199	Q8N511	ELOVL4	Homo sapiens	Q9GZR5	Y2H Prey Pooling	32296183
种属内	TMEM199	Q8N511	ELOVL4	Homo sapiens	Q9GZR5	Validated Y2H	32296183
种属内	TMEM199	Q8N511	ELOVL4	Homo sapiens	Q9GZR5	Y2H Array	32296183
种属内	TMEM199	Q8N511	ERLIN1	Homo sapiens	O75477	Y2H Prey Pooling	25416956
种属内	TMEM199	Q8N511	IFNGR2	Homo sapiens	P38484	Y2H Prey Pooling	32296183
种属内	TMEM199	Q8N511	IFNGR2	Homo sapiens	P38484	Y2H Array	32296183
种属内	TMEM199	Q8N511	EBP	Homo sapiens	Q15125	Y2H Array	32296183
种属内	TMEM199	Q8N511	EBP	Homo sapiens	Q15125	Y2H Prey Pooling	32296183
种属内	TMEM199	Q8N511	TIMMDC1	Homo sapiens	Q9NPL8	Validated Y2H	32296183
种属内	TMEM199	Q8N511	TIMMDC1	Homo sapiens	Q9NPL8	Y2H Array	32296183
种属内	TMEM199	Q8N511	TIMMDC1	Homo sapiens	Q9NPL8	Y2H Prey Pooling	32296183
种属内	TMEM199	Q8N511	BIK	Homo sapiens	Q13323	Y2H Prey Pooling	32296183
种属内	TMEM199	Q8N511	BIK	Homo sapiens	Q13323	Y2H Array	32296183
种属内	TMEM199	Q8N511	STX1A	Homo sapiens	Q16623	Y2H Array	32296183
种属内	TMEM199	Q8N511	STX1A	Homo sapiens	Q16623	Y2H Prey Pooling	32296183
种属内	TMEM199	Q8N511	STX4	Homo sapiens	Q12846	Y2H Array	32296183
种属内	TMEM199	Q8N511	STX4	Homo sapiens	Q12846	Y2H Prey Pooling	32296183
种属内	TMEM199	Q8N511	KASH5	Homo sapiens	Q8N6L0	Y2H Array	25416956
种属内	TMEM199	Q8N511	REEP4	Homo sapiens	Q9H6H4	Y2H Prey Pooling	32296183
种属内	TMEM199	Q8N511	REEP4	Homo sapiens	Q9H6H4	Validated Y2H	32296183
种属内	TMEM199	Q8N511	REEP4	Homo sapiens	Q9H6H4	Y2H Array	32296183
种属内	TMEM199	Q8N511	TMEM14B	Homo sapiens	Q9NUH8	Y2H Prey Pooling	32296183
种属内	TMEM199	Q8N511	TMEM14B	Homo sapiens	Q9NUH8	Validated Y2H	32296183
种属内	TMEM199	Q8N511	TMEM14B	Homo sapiens	Q9NUH8	Y2H Array	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS14693	TMEM199 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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