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USF3 - upstream transcription factor family member 3 Gene

Also Known as KIAA2018

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 205717

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	References	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	References	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

Pre-clinical Phase

Bioactive Molecules (1)

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