1. Gene
  2. USF3 - upstream transcription factor family member 3 Gene

USF3 - upstream transcription factor family member 3 Gene

中文名称:上游转录因子家族成员 3

种属: Homo sapiens

同用名: KIAA2018

基因 ID: 205717 | 基因类型: protein coding

关于 USF3

Cytogenetic location: 3q13.2 Genomic coordinates (GRCh38): 3:113,648,385-113,696,642 (from NCBI)

This gene has 4 transcripts (splice variants), 192 orthologues and is associated with 1 phenotype. Ubiquitous expression in bone marrow (RPKM 3.4), kidney (RPKM 3.3) and 25 other tissues.

功能概要

该基因编码一种包含螺旋-环-螺旋结构域和聚谷氨酰胺区域的大蛋白。多聚谷氨酰胺区域的缺失与甲状腺癌的风险相关。[RefSeq 提供,2017 年 5 月]

This gene encodes a large protein that contains a helix-loop-helix domain and a polyglutamine region. A deletion in the polyglutamine region was associated with risk for thyroid carcinoma. [provided by RefSeq, May 2017]

USF3 基因产物(1)

mRNA Protein Name
NM_001009899.4 NP_001009899.3 basic helix-loop-helix domain-containing protein USF3
基因本体论
  • 分子功能
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of epithelial to mesenchymal transition IMP
IMP: 通过突变表型推断
28011713 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
33058301 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

USF3 蛋白结构

HLH

HLH: Helix-loop-helix DNA-binding domain (20 - 69)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2245 a.a.
蛋白主名 其他名称

basic helix-loop-helix domain-containing protein USF3

关联疾病

疾病名称 别名
Cowden Syndrome

Cowden Disease

Multiple Hamartoma Syndrome

Cowden'S Disease

Lhermitte-Duclos Disease

Cd

Cs

Mham

Dysplastic Gangliocytoma Of Cerebellum

Cowden'S Syndrome

Hamartoma Syndrome, Multiple

Cowden Syndrome 1

Bannayan-Riley-Ruvalcaba Syndrome

Pten Hamartoma Tumor Syndrome

Lhermitte-Duclos Disease

Bannayan-Zonana Syndrome

Phts

Riley-Smith Syndrome

Bzs

Ruvalcaba-Myhre-Smith Syndrome

Multiple Hamartoma Syndrome

Rmss

Brrs

Dysplastic Gangliocytoma Of The Cerebellum

CWS1

Cs

Cd

Mham

Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

Macrocephaly Multiple Lipomas And Hemangiomata

Bannayan-Ruvalcaba-Riley Syndrome

Myhre-Riley-Smith Syndrome

LDD

Cerebelloparenchymal Disorder Vi

Hamartoma Syndrome, Multiple

Bbrs

Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata

Macrocephaly, Multiple Lipomas, And Hemangiomata

Macrocephaly Pseudopapilledema And Multiple Hemangiomas

Ruvalcaba -Myhre-Smith Syndrome

Ruvalcaba-Myhre Syndrome

Cowden Disease

Macrocephaly Pseudopapilledema And Multiple Hemangiomata

Cerebellar Granule Cell Hypertrophy And Megalencephaly

Cpd6

Pten Hamartoma Tumor Syndromes

Cowden Syndrome, Type 1

Central Nervous System Sarcoma

Sarcoma Of The Cns

Childhood Disintegrative Disease

Childhood Disintegrative Disorder

Disintegrative Psychosis

Heller'S Syndrome

Symbiotic Psychosis

Dementia Infantilis

Heller Syndrome

Shared Paranoid Disorder

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
Felis catus USF3 VGNC VGNC:102863
Macaca mulatta USF3 VGNC VGNC:110317
Bos taurus USF3 VGNC VGNC:53612
Canis familiaris USF3 VGNC VGNC:53089
Rattus norvegicus USF3 RGD RGD:1560175
Mus musculus USF3 MGD MGI:2685454