COG6 - component of oligomeric golgi complex 6 Gene

中文名称：低聚高尔基复合体 6 的成分

种属: Homo sapiens

同用名: COD2; SHNS; CDG2L

基因 ID: 57511 | 基因类型: protein coding

关于 COG6

Cytogenetic location: 13q14.11 Genomic coordinates (GRCh38): 13:39,655,627-39,791,666 (from NCBI)

This gene has 12 transcripts (splice variants), 203 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 7.0), thyroid (RPKM 5.7) and 25 other tissues.

功能概要

该基因编码保守的低聚高尔基体复合体的一个亚基，该复合体是维持高尔基体正常结构和活性所必需的。编码的蛋白质与保守的低聚高尔基体复合体成分 5、7 和 8 组织成一个称为叶 B 的子复合体。可变剪接导致多个转录变体。[RefSeq 提供，2009 年 2 月]

This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]

COG6 基因产物(2)

mRNA	Protein	Name
NM_001145079.2	NP_001138551.1	conserved oligomeric Golgi complex subunit 6 isoform 2
NM_020751.3	NP_065802.1	conserved oligomeric Golgi complex subunit 6 isoform 1

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	27107012	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in Golgi organization	IMP IMP: 通过突变表型推断	27066481	GOA
involved in glycosylation	IMP IMP: 通过突变表型推断	20605848	GOA
involved in retrograde transport, vesicle recycling within Golgi	IMP IMP: 通过突变表型推断	27066481	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of Golgi transport complex	IDA IDA: 通过直接分析推断	15047703	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

COG6 蛋白结构

COG6

0
200
400
600
657 a.a.

蛋白主名

其他名称

conserved oligomeric Golgi complex subunit 6

COG complex subunit 6

COG6 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
Intra	COG6	Q9Y2V7	SNAP29	Homo sapiens	O95721	Anti Tag CoIP	33961781
Intra	COG6	Q9Y2V7	ARHGEF5	Homo sapiens	Q12774	Validated Y2H	27107012
Intra	COG6	Q9Y2V7	ZBTB16	Homo sapiens	Q05516	Validated Y2H	27107012
Intra	COG6	Q9Y2V7	WASHC3	Homo sapiens	Q9Y3C0	Validated Y2H	32296183
Intra	COG6	Q9Y2V7	SCNM1	Homo sapiens	Q9BWG6	Validated Y2H	27107012
Intra	COG6	Q9Y2V7	BCL10	Homo sapiens	O95999	Validated Y2H	27107012

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 Iil

CDG2L	Congenital Disorder Of Glycosylation Type Iil
Cdg Iil	Cog6-Cgd
Cdgiil	Cdg Syndrome Type Iil
Congenital Disorder Of Glycosylation Type 2l	Cdg-Iil
Cdgiidl	Congenital Disorder Of Glycosylation 2l
Glycosylation, Congenital Disorder Of, Type Iil

Shaheen Syndrome

Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome

SHNS

Congenital Disorder Of Glycosylation, Type Iih

CDG2H	Congenital Disorder Of Glycosylation Type Iih
Cdg Iih	Cdgiih
Carbohydrate Deficient Glycoprotein Syndrome Type Iih	Congenital Disorder Of Glycosylation Type 2h
Cog8-Cdg	Cdg-Iih
Cdgiidh	Cdg Syndrome Type Iih
Congenital Disorder Of Glycosylation 2h	Glycosylation, Congenital Disorder Of, Type Iih

Congenital Disorder Of Glycosylation, Type Iiq

CDG2Q	Cdg Iiq
Cdgiiq	Congenital Disorder Of Glycosylation Type Iiq
Cog2-Cdg	Cog2-Related Congenital Disorder Of Glycosylation
Cdgiidq	Congenital Disorder Of Glycosylation 2q
Cdg-Iiq

Congenital Disorder Of Glycosylation, Type Iij

CDG2J	Congenital Disorder Of Glycosylation Type Iij
Cdg Iij	Cdgiij
Carbohydrate Deficient Glycoprotein Syndrome Type Iij	Cdg Syndrome Type Iij
Congenital Disorder Of Glycosylation Type 2j	Cog4-Cdg
Cdg-Iij	Cdgiidj
Congenital Disorder Of Glycosylation 2j	Glycosylation, Congenital Disorder Of, Type Iij

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 Iii

CDG2I	Congenital Disorder Of Glycosylation Type Iii
Cdgiii	Carbohydrate Deficient Glycoprotein Syndrome Type Iii
Congenital Disorder Of Glycosylation Type 2i	Cog5-Cdg
Cdgiidi	Congenital Disorder Of Glycosylation 2i
Glycosylation, Congenital Disorder Of, Type Iii	Congenital Disorder Of Glycosylation, Type I-Iix

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

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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-RS02955	COG6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	COG6	VGNC	VGNC:39452
Felis catus	COG6	VGNC	VGNC:61049
Rattus norvegicus	COG6	RGD	RGD:1303283
Mus musculus	COG6	MGD	MGI:1914792
Bos taurus	COG6	VGNC	VGNC:27550
Macaca mulatta	COG6	VGNC	VGNC:71207

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