USF3 - upstream transcription factor family member 3 Gene

Homo sapiens

Also known as KIAA2018

Gene ID: 205717 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_001009899.4	NP_001009899.3	basic helix-loop-helix domain-containing protein USF3

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	33058301	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	33058301	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of epithelial to mesenchymal transition	IMP IMP: Inferred from mutant phenotype	28011713	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	33058301	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

USF3 Protein Structure

HLH

0
400
800
1200
1600
2000
2245 a.a.

Protein Preferred Names

Protein Names

basic helix-loop-helix domain-containing protein USF3

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect Pre-designed Sets	Purity	Rare Diseases Unkown
HY-RS15515	USF3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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