RFX7 - regulatory factor X7 Gene

Homo sapiens

Also known as RFXDC2

Gene ID: 64864 | Gene type: protein coding

About RFX7

Cytogenetic location: 15q21.3 Genomic coordinates (GRCh38): 15:56,087,280-56,245,082 (from NCBI)

This gene has 6 transcripts (splice variants), 281 orthologues and 7 paralogues. Ubiquitous expression in testis (RPKM 3.9), lymph node (RPKM 3.3) and 25 other tissues.

Summary

RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009]

RFX7 Products(5)

mRNA	Protein	Name
NM_001368073.2	NP_001355002.1	DNA-binding protein RFX7 isoform 2
NM_001368074.1	NP_001355003.1	DNA-binding protein RFX7 isoform 2
NM_001370554.1	NP_001357483.1	DNA-binding protein RFX7 isoform 3
NM_001370561.1	NP_001357490.1	DNA-binding protein RFX7 isoform 1
NM_022841.7	NP_073752.6	DNA-binding protein RFX7 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables RNA polymerase II core promoter sequence-specific DNA binding	IDA IDA: Inferred from direct assay	29967452	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25752541	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	29967452	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

RFX7 Protein Structure

RFX_DNA_binding

0
300
600
900
1200
1363 a.a.

Protein Preferred Names

Protein Names

DNA-binding protein RFX7

regulatory factor X domain containing 2

Related Diseases

Diseases

Alias

Deafness, Autosomal Dominant 27

DFNA27	Autosomal Dominant Nonsyndromic Deafness 27
Autosomal Dominant Deafness 27	Deafness, Autosomal Dominant, 27

Chromosome 16p11.2 Duplication Syndrome

Proximal 16p11.2 Microduplication Syndrome	Proximal Dup(16)(P11.2)
Proximal Trisomy 16p11.2	Autism, Susceptibility To, 14b
Autism 14b

Fanconi Anemia, Complementation Group C

Fanconi Anemia Complementation Group C	FANCC
Facc	Fac
Fa3	Fanconi Pancytopenia Type 3
Fanconi Pancytopenia, Type 3	Faces Syndrome
Facial Features , Anorexia, Cachexia, Eye And Skin Anomalies	Friedman-Goodman Syndrome
Abnormality Of The Face

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	Purity	Rare Diseases
HY-RS11885	RFX7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	RFX7	VGNC	VGNC:33899
Rattus norvegicus	RFX7	RGD	RGD:1308795
Mus musculus	RFX7	MGD	MGI:2442675
Canis familiaris	RFX7	VGNC	VGNC:45509
Felis catus	RFX7	VGNC	VGNC:64588
Macaca mulatta	RFX7	VGNC	VGNC:76827

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