2. Gene
  3. UBE2A - ubiquitin conjugating enzyme E2 A Gene

UBE2A - ubiquitin conjugating enzyme E2 A Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：泛素结合酶 E2 A

种属: Homo sapiens

同用名: UBC2; HHR6A; MRXSN; RAD6A; MRXS30

基因 ID: 7319 | 基因类型: protein coding

关于 UBE2A

Cytogenetic location: Xq24 Genomic coordinates (GRCh38): X:119,574,563-119,584,423 (from NCBI)

This gene has 14 transcripts (splice variants), 220 orthologues, 24 paralogues and is associated with 3 phenotypes. Ubiquitous expression in placenta (RPKM 31.4), colon (RPKM 30.1) and 25 other tissues.

功能概要

用泛素修饰蛋白质是靶向异常或短寿命蛋白质进行降解的重要细胞机制。泛素化至少涉及三类酶：泛素激活酶、泛素结合酶和泛素蛋白连接酶。该基因编码 E2 泛素结合酶家族的成员。这种酶是复制后 DNA 损伤修复所必需的，并且可能在转录调节中发挥作用。该基因的突变与认知障碍有关。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 8 月]

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating Enzyme family. This Enzyme is required for post-replicative DNA damage repair, and may play a role in transcriptional regulation. Mutations in this gene are associated with cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

UBE2A 基因产物(3)

mRNA Protein Name
NM_001282161.2 NP_001269090.1 ubiquitin-conjugating enzyme E2 A isoform 4
NM_003336.4 NP_003327.2 ubiquitin-conjugating enzyme E2 A isoform 1
NM_181762.3 NP_861427.1 ubiquitin-conjugating enzyme E2 A isoform 2

UBE2A 蛋白结构

UQ_con

UQ_con: Ubiquitin-conjugating enzyme (8 - 143)

  • 0
  • 100
  • 152 a.a.
蛋白主名 其他名称

ubiquitin-conjugating enzyme E2 A

E2 ubiquitin-conjugating enzyme A

重组 UBE2A 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71397 UBE2A Protein, Human (GST-His) P49459-1 (M1-C152) ≥95%

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type

MRXSN

Mental Retardation, X-Linked, Syndromic, Nascimento Type

Mental Retardation, X-Linked, Syndromic 30

Mrxs30

Intellectual Developmental Disorder, X-Linked Syndromic, Nascimento Type

X-Linked Intellectual Disability, Nascimento Type

X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome

Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento-Type
Syndromic X-Linked Intellectual Disability Nascimento Type

Mental Retardation, X-Linked Syndromic, Nascimento-Type

X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome
N1 Diffuse Large B-Cell Lymphoma

N1 Dlbcl

Doid:0081067
Non-Syndromic X-Linked Intellectual Disability 107

Mrx107

X-Linked Mental Retardation 107
Syndromic X-Linked Intellectual Disability Claes-Jensen Type

Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type

Mrxscj

Mrxsj

Syndromic X-Linked Intellectual Disability Due To Jarid1c Mutation

Syndromic X-Linked Mental Retardation Jarid1c-Related
Non-Syndromic X-Linked Intellectual Disability 93

Mrx93

X-Linked Mental Retardation With Macrocephaly
Kaufman Oculocerebrofacial Syndrome

KOS

Blepharophimosis-Ptosis-Intellectual Disability Syndrome

Oculocerebrofacial Syndrome, Kaufman Type

Bpids

Blepharophimosis Ptosis Intellectual Disability Syndrome

Blepharophimosis-Ptosis-Intellectual Disability Syndrome

Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet

Bpid Syndrome
Borjeson-Forssman-Lehmann Syndrome

BFLS

Borj

Borjeson Syndrome

Mrxsbfl

Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome

Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome

Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type

Mental Retardation, Epilepsy, And Endocrine Disorders

Mental Retardation, Epilepsy, And Endocrine Disorder

Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type

Mental Deficiency, Epilepsy And Endocrine Disorders

Boerjeson-Forssman-Lehmann Syndrome

Borjeson-Forssman Syndrome

Mental Deficiency-Epilepsy- Endocrine Disorders
Non-Syndromic X-Linked Intellectual Disability 97

Mrx65

Mrx97

Mrxz

X-Linked Mental Retardation 65

X-Linked Mental Retardation 97
Johanson-Blizzard Syndrome

JBS

Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, And Congenital Deafness

Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia And Congenital Deafness

Johanson Blizzard Syndrome
Ohdo Syndrome, Sbbys Variant

Say-Barber-Biesecker-Young-Simpson Syndrome

SBBYSS

Young-Simpson Syndrome

Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type

Yss

Sbbys Variant Of Ohdo Syndrome

Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type

Young Simpson Syndrome

Sbbyss Syndrome

Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Blepharophimosis And Mental Retardation Syndrome, Say-Barber/Biesecker/Young-Simpson Type

Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/Biesecker/Young-Simpson Type

Bmrs Sbbys

Ohdo Syndrome, Say-Barber-Biesecker Variant

Say-Barber-Biesecker-Young-Simpson Variant Of Ohdo Syndrome

Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome

Say-Barber-Biesecker Variant Of Ohdo Syndrome
Sotos Syndrome 1

Sotos1

Sotos Syndrome, Type 1

Sotos' Syndrome
Ohdo Syndrome

Young Simpson Syndrome

Ohdo Blepharophimosis Syndrome

Blepharophimosis Syndrome Ohdo Type

Blepharophimosis Intellectual Disability Syndromes

Bmrs

Blepharophimosis-Intellectual Disability Syndrome

Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth

Sbbys Syndrome

Say Barber Biesecker Young-Simpson Syndrome

Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type

Bmrs, Ohdo Type

Blepharophimosis Syndrome, Ohdo Type

Ohdo-Madokoro-Sonoda Syndrome

Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type

Blepharophimosis - Intellectual Disability Syndrome
Syndromic Intellectual Disability
Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12
Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS15336 UBE2A Human Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta UBE2A VGNC VGNC:78691
Bos taurus UBE2A VGNC VGNC:36576
Rattus norvegicus UBE2A RGD RGD:1359534
Felis catus UBE2A VGNC VGNC:66757
Canis familiaris UBE2A VGNC VGNC:54384
Mus musculus UBE2A MGD MGI:102959
Others UBE2A NCBI
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z