COG8 - component of oligomeric golgi complex 8 Gene

中文名称：低聚高尔基复合体 8 的成分

种属: Homo sapiens

同用名: DOR1; CDG2H

基因 ID: 84342 | 基因类型: protein coding

关于 COG8

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:69,326,428-69,339,564 (from NCBI)

This gene has 6 transcripts (splice variants), 206 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 17.4), kidney (RPKM 11.1) and 25 other tissues.

功能概要

该基因编码的蛋白质是保守的低聚高尔基体 (COG) 复合体的组成部分，COG 复合体是一种多蛋白复合体，在高尔基体中发挥结构性作用，并参与细胞内膜运输和糖蛋白修饰。该基因的突变导致先天性糖基化障碍，IIh 型，这是一种以血清蛋白糖基化不足为特征的疾病，其症状包括严重的精神运动迟缓、发育迟缓、癫痫以及乳制品和小麦产品不耐受。[RefSeq 提供，2008 年 7 月]

This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq, Jul 2008]

COG8 基因产物(8)

mRNA	Protein	Name
NM_001374871.1	NP_001361800.1	conserved oligomeric Golgi complex subunit 8 isoform 2
NM_001379261.1	NP_001366190.1	conserved oligomeric Golgi complex subunit 8 isoform 3
NM_001379262.1	NP_001366191.1	conserved oligomeric Golgi complex subunit 8 isoform 4
NM_001379263.1	NP_001366192.1	conserved oligomeric Golgi complex subunit 8 isoform 5
NM_001379264.1	NP_001366193.1	conserved oligomeric Golgi complex subunit 8 isoform 1
NM_001379265.1	NP_001366194.1	conserved oligomeric Golgi complex subunit 8 isoform 6
NM_001379266.1	NP_001366195.1	conserved oligomeric Golgi complex subunit 8 isoform 7
NM_032382.5	NP_115758.3	conserved oligomeric Golgi complex subunit 8 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	25416956	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	27066481	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

COG8 蛋白结构

Dor1

0
100
200
300
400
500
612 a.a.

蛋白主名

其他名称

conserved oligomeric Golgi complex subunit 8

COG complex subunit 8

COG8 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	COG8	Q96MW5	MYEF2	Homo sapiens	Q9P2K5-2	Y2H Prey Pooling	25416956
种属内	COG8	Q96MW5	MYEF2	Homo sapiens	Q9P2K5-2	Validated Y2H	25416956
种属内	COG8	Q96MW5	MYEF2	Homo sapiens	Q9P2K5-2	Y2H Array	25416956
种属内	COG8	Q96MW5	KIF1B	Homo sapiens	O60333-2	Validated Y2H	32814053
种属内	COG8	Q96MW5	KIF1B	Homo sapiens	O60333-2	Y2H Pooling	32814053
种属内	COG8	Q96MW5	KIF1B	Homo sapiens	O60333-2	Y2H Array	32814053
种属内	COG8	Q96MW5	TTR	Homo sapiens	P02766	Y2H Pooling	32814053
种属内	COG8	Q96MW5	TTR	Homo sapiens	P02766	Validated Y2H	32814053
种属内	COG8	Q96MW5	TTR	Homo sapiens	P02766	Y2H Array	32814053
种属内	COG8	Q96MW5	GEM	Homo sapiens	P55040	Y2H Array	25416956

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 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

Alternating Esotropia

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 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

Cone-Rod Dystrophy, X-Linked, 2

CORDX2	Cod2
X-Linked Cone-Rod Dystrophy 2	Cone Dystrophy 2, X-Linked
Cone Dystrophy, Progressive X-Linked, 2	X-Linked Cone Dystrophy 2
Cone-Rod Dystrophy X-Linked 2	Cone Dystrophy X-Linked 2
Cone Dystrophy-2, X-Linked

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

Developmental And Epileptic Encephalopathy 36

Congenital Disorder Of Glycosylation Type I	Epileptic Encephalopathy, Early Infantile, 36
Congenital Disorder Of Glycosylation, Type Is	Cdg1s
Congenital Disorder Of Glycosylation, Type Ie	CDG1E
Congenital Disorder Of Glycosylation Type 1e	DEE36
Eiee36	Cdg Is
Cdgis	Congenital Disorder Of Glycosylation Ie
Congenital Disorder Of Glycosylation 1e	Cdg-Is
Congenital Disorder Of Glycosylation Type Is	Developmental And Epileptic Encephalopathy, 36
Cdg Ie	Cdgie
Early Infantile Epileptic Encephalopathy 36	Alg13-Cdg
Cdg Syndrome Type Is	Congenital Disorder Of Glycosylation Type 1s
Dpm1-Cdg	Cdg Syndrome Type Ie
Cdg-Ie	Carbohydrate Deficient Glycoprotein Syndrome Type Ie
Congenital Disorder Of Glycosylation Type Ie	Dol-P-Mannosyltransferase Deficiency
Congenital Disorder Of Glycosylation 1s	Glycosylation, Congenital Disorder Of, Type I
Glycosylation, Congenital Disorder Of, Type Ie	Congenital Disorder Of Glycosylation Type 1a
Congenital Disorder Of Glycosylation, Type Iu

Congenital Disorder Of Glycosylation, Type Iig

CDG2G	Congenital Disorder Of Glycosylation Type Iig
Cdg Iig	Cdgiig
Cdgii/Cog1 Cerebrocostomandibular-Like Syndrome	Carbohydrate Deficient Glycoprotein Syndrome Type Iig
Cdg-Iig	Congenital Disorder Of Glycosylation, Type 2g
Cog1-Cdg	Cdg Syndrome Type Iig
Congenital Disorder Of Glycosylation Type 2g	Congenital Disorder Of Glycosylation 2g
Cdg-Ii Caused By Cog1 Deficiency	Glycosylation, Congenital Disorder Of, Type Iig

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Distal Spinal Muscular Atrophy Type 3	DSMA3
Spinal Muscular Atrophy, Chronic Distal, Autosomal Recessive	Autosomal Recessive Distal Spinal Muscular Atrophy Type 3
Dhmn3 And Dhmn4	Distal Hereditary Motor Neuropathy Type 3 And Type 4
Neuronopathy, Distal Hereditary Motor, Type Iv	Hmn4
Dhmn4	Neuropathy, Distal Hereditary Motor, Type Iv
Hmn Iv	Neuronopathy, Distal Hereditary Motor, Type Iii
Hmn3	Dhmn3
Hmn Iii

Accommodative Esotropia

Esotropia With Accommodative Compensation

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

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

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-RS02957	COG8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	COG8	RGD	RGD:1307074
Mus musculus	COG8	MGD	MGI:2142885

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

COG8 - component of oligomeric golgi complex 8 Gene

关于 COG8

功能概要

COG8 基因产物(8)

COG8 蛋白结构

COG8 蛋白互作信息

关联疾病

直系同源

热门区域

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COG8 - component of oligomeric golgi complex 8 Gene

关于 COG8

功能概要

COG8 基因产物(8)

COG8 蛋白结构

COG8 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z