2. Gene
  3. ASXL2 - ASXL transcriptional regulator 2 Gene

ASXL2 - ASXL transcriptional regulator 2 Gene

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

中文名称：ASXL 转录调节因子 2

种属: Homo sapiens

同用名: ASXH2; SHAPNS

基因 ID: 55252 | 基因类型: protein coding

关于 ASXL2

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:25,733,753-25,878,487 (from NCBI)

This gene has 7 transcripts (splice variants), 205 orthologues, 2 paralogues and is associated with 97 phenotypes. Ubiquitous expression in testis (RPKM 5.8), thyroid (RPKM 4.6) and 25 other tissues.

功能概要

该基因编码表观遗传调控因子家族的一个成员，该家族可结合各种组蛋白修饰酶，并参与特定基因组位点转录因子的组装。该基因中自然发生的突变与几种组织类型 (乳房、膀胱、胰腺、卵巢、前列腺和血液) 中的癌症有关。该基因在神经发育、心脏功能、脂肪生成和破骨细胞生成中起重要作用。[RefSeq 提供，2017 年 2 月]

This gene encodes a member of a family of epigenetic regulators that bind various histone-modifying Enzymes and are involved in the assembly of transcription factors at specific genomic loci. Naturally occurring mutations in this gene are associated with Cancer in several tissue types (breast, bladder, pancreas, ovary, prostate, and blood). This gene plays an important role in neurodevelopment, cardiac function, adipogenesis, and osteoclastogenesis. [provided by RefSeq, Feb 2017]

ASXL2 基因产物(3)

mRNA Protein Name
NM_001369346.1 NP_001356275.1 putative Polycomb group protein ASXL2 isoform 2
NM_001369347.1 NP_001356276.1 putative Polycomb group protein ASXL2 isoform 3
NM_018263.6 NP_060733.4 putative Polycomb group protein ASXL2 isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables peroxisome proliferator activated receptor binding IDA
IDA: 通过直接分析推断
21047783 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of fat cell differentiation IDA
IDA: 通过直接分析推断
21047783 GOA
involved in positive regulation of peroxisome proliferator activated receptor signaling pathway IDA
IDA: 通过直接分析推断
21047783 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
21047783 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

ASXL2 蛋白结构

HARE-HTH

HARE-HTH: HB1, ASXL, restriction endonuclease HTH domain (1 - 54)

ASXH

ASXH: Asx homology domain (224 - 352)

PHD_3

PHD_3: PHD domain of transcriptional enhancer, Asx (1343 - 1405)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1407 a.a.
蛋白主名 其他名称

putative Polycomb group protein ASXL2

additional sex combs like 2, transcriptional regulator

关联疾病

疾病名称 别名
Shashi-Pena Syndrome

SHAPNS

Asxl2/Shashi-Pena Syndrome
Bainbridge-Ropers Syndrome

BRPS

Severe Feeding Difficulties-Failure To Thrive-Microcephaly Due To Asxl3 Deficiency Syndrome

Asxl3-Related Disorder
Classic Pulmonary Blastoma

Biphasic Pulmonary Blastoma
Core Binding Factor Acute Myeloid Leukemia

Cbf Acute Myeloid Leukemia

Cbf-Aml

Core-Binding Factor Aml
Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To
Hypertelorism

Eyes Wide Apart

Eyes Widely Set

Hypertelorism Of Orbit

Ocular Hypertelorism

Orbital Separation Excessive
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-RS01115 ASXL2 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris ASXL2 VGNC VGNC:38197
Mus musculus ASXL2 MGD MGI:1922552
Bos taurus ASXL2 VGNC VGNC:26229
Felis catus ASXL2 VGNC VGNC:59985
Macaca mulatta ASXL2 VGNC VGNC:70114
Rattus norvegicus ASXL2 RGD RGD:1304710
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