1. Gene
  2. AEBP2 - AE binding protein 2 Gene

AEBP2 - AE binding protein 2 Gene

中文名称:AE 结合蛋白 2

种属: Homo sapiens

基因 ID: 121536 | 基因类型: protein coding

关于 AEBP2

Cytogenetic location: 12p12.3 Genomic coordinates (GRCh38): 12:19,404,072-19,522,227 (from NCBI)

This gene has 9 transcripts (splice variants), 254 orthologues and 14 paralogues. Ubiquitous expression in placenta (RPKM 7.9), thyroid (RPKM 7.0) and 25 other tissues.

功能概要

预测启用转录共调节因子活动。预计参与 RNA 聚合酶 II 的转录调控。预计在转录调节的上游或调节内起作用,以 DNA 为模板。位于核质中。 ESC/E (Z) 复合体的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of transcription, DNA-templated. Located in nucleoplasm. Part of ESC/E(Z) complex. [provided by Alliance of Genome Resources, Apr 2022]

AEBP2 基因产物(4)

mRNA Protein Name
NM_001114176.2 NP_001107648.1 zinc finger protein AEBP2 isoform b
NM_001267043.2 NP_001253972.1 zinc finger protein AEBP2 isoform c
NM_001363736.2 NP_001350665.1 zinc finger protein AEBP2 isoform d
NM_153207.5 NP_694939.2 zinc finger protein AEBP2 isoform a
基因本体论
  • 分子功能
  • 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
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of ESC/E(Z) complex IDA
IDA: 通过直接分析推断
20075857 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

AEBP2 蛋白结构

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (315 - 340)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 517 a.a.
蛋白主名 其他名称

zinc finger protein AEBP2

AE(adipocyte enhancer)-binding protein 2

AEBP2 抗体

目录号 产品名 应用 反应物种
HY-P84650 AEBP2 Antibody (YA4347) WB, ICC/IF, FC, ELISA Human

关联疾病

疾病名称 别名
Pontocerebellar Hypoplasia, Type 13

PCH13

Pontocerebellar Hypoplasia Type 13

Pontocerebellar Hypoplasia 13

Doid:0112332

Hypoplasia, Pontocerebellar, Type 13

Adult Malignant Schwannoma

Adult Mpnst

Adult Neurofibrosarcoma

Weaver Syndrome

Wss

Weaver-Smith Syndrome

WVS

Weaver-Like Syndrome

Weaver-Williams Syndrome

Camptodactyly-Overgrowth-Unusual Facies Syndrome

Camptodactyly - Overgrowth - Unusual Facies

Ezh2 Related Overgrowth

Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly

Weaver Smith Syndrome

Weaver Like Syndrome

Weaver Williams Syndrome

Camptodactyly-Overgrowth-Unusual Facies

Weaver Syndrome 1

Weaver Syndrome 2

Wvs1

Wvs2

Atypical Neurofibroma
Waardenburg'S Syndrome

Waardenburg Syndrome

Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome

Van Der Hoeve Halbertsona Waardenburg Syndrome

Waardenburg Shah Syndrome

Waardenburg, Types I And/Or Ii

Mende Syndrome

Waardenburgs Syndrome

Waardenburg Syndrome, Type 4a

Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon

Hscr

Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

HSCR1

Mgc

Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic

Macrocolon

Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon

Aganglionosis

Congenital Aganglionic Megacolon

Aganglionosis Of Colon

Bowel Aganglionosis

Colon Aganglionosis

Hirschsprung Megacolon

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus AEBP2 VGNC VGNC:25704
Felis catus AEBP2 VGNC VGNC:59663
Canis familiaris AEBP2 VGNC VGNC:37682
Macaca mulatta AEBP2 VGNC VGNC:99879
Rattus norvegicus AEBP2 RGD RGD:1307233
Mus musculus AEBP2 MGD MGI:1338038