1. Gene
  2. TFAP2E - transcription factor AP-2 epsilon Gene

TFAP2E - transcription factor AP-2 epsilon Gene

中文名称:转录因子 AP-2 epsilon

种属: Homo sapiens

同用名: AP2E; AP-2epsilon

基因 ID: 339488 | 基因类型: protein coding

关于 TFAP2E

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:35,573,314-35,595,591 (from NCBI)

This gene has 5 transcripts (splice variants), 199 orthologues and 4 paralogues. Broad expression in skin (RPKM 1.5), lymph node (RPKM 1.1) and 22 other tissues.

功能概要

启用序列特异性双链 DNA 结合活性。预计参与解剖结构开发;调节细胞群增殖; RNA 聚合酶 II 对转录的调控。预计在 RNA 聚合酶 II 的转录正调控上游或正调控内起作用。预测是染色质的一部分。预计活跃于核心。 [由基因组资源联盟提供,2022 年 4 月]

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in anatomical structure development; regulation of cell population proliferation; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

TFAP2E 基因产物(1)

mRNA Protein Name
NM_178548.4 NP_848643.2 transcription factor AP-2-epsilon
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 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

TFAP2E 蛋白结构

TF_AP-2

TF_AP-2: Transcription factor AP-2 (215 - 419)

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

transcription factor AP-2-epsilon

AP2-epsilon

关联疾病

疾病名称 别名
Branchiooculofacial Syndrome

Branchio-Oculo-Facial Syndrome

BOFS

Bof Syndrome

Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome

Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome

Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging

Branchial Clefts With Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct And Premature Aging

Bofs Syndrome

Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome

Hypothyroidism, Congenital, Nongoitrous, 2

Thyroid Dysgenesis

CHNG2

Thyroid Hypoplasia

Thyroid Hemiagenesis

Thyroid Agenesis

Athyreotic Hypothyroidism

Rtsh

Thyrotropin Resistance

Hypothyroidism, Congenital, Due To Thyroid Dysgenesis Or Hypoplasia

Congenital Nongoitrous Hypothyroidism 2

Thyroid, Ectopic

Hypothyroidism, Congenital, Due To Thyroid Dysgenesis

Hypothyroidism, Athyreotic

Thyrotropin

Resistance To Thyrotropin

Congenital Hypothyroidism Due To Thyroid Dysgenesis Or Hypoplasia

Hypothyroidism, Congenital, Non-Goitrous, 2

Congenital Hypothyroidism Due To Thyroid Dysgenesis

Thyroid-Stimulating Hormone Resistance

Thyroid Ectopic

Ectopic Thyroid

Hypothyroidism, Congenital, Nongoitrous, 3

Thyroid Hormone Resistance Syndrome

Hypothyroidism, Congenital, Nongoitrous, 1

Char Syndrome

Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits

CHAR

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 TFAP2E VGNC VGNC:35780
Macaca mulatta TFAP2E VGNC VGNC:79878
Mus musculus TFAP2E MGD MGI:2679630
Rattus norvegicus TFAP2E RGD RGD:1563297
Felis catus TFAP2E VGNC VGNC:80377