RFX7 - regulatory factor X7 Gene

Also Known as RFXDC2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64864

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
Molecular Function GO Annotation Evidence References 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 References 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

RFX_DNA_binding: RFX DNA-binding domain (5 - 87)

  • 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

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
Others RFX7 NCBI