1. Gene
  2. RFX8 - regulatory factor X8 Gene

RFX8 - regulatory factor X8 Gene

Homo sapiens
Gene ID: 731220 | Gene type: protein coding

About RFX8

This gene has 6 transcripts (splice variants), 102 orthologues and 7 paralogues. Biased expression in bone marrow (RPKM 1.7), testis (RPKM 0.8) and 12 other tissues.

Summary

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022]

RFX8 Products(4)

mRNA Protein Name
NM_001145664.2 NP_001139136.2 DNA-binding protein RFX8 isoform 1
NM_001367508.1 NP_001354437.1 DNA-binding protein RFX8 isoform 2
NM_001367509.1 NP_001354438.1 DNA-binding protein RFX8 isoform 2
NM_001367510.1 NP_001354439.1 DNA-binding protein RFX8 isoform 2
Protein Preferred Names Protein Names

DNA-binding protein RFX8

RFX family member 8, lacking RFX DNA binding domain

Related Diseases

Diseases Alias
Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

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
Mus musculus RFX8 MGD MGI:3588206
Canis familiaris RFX8 VGNC VGNC:45510
Macaca mulatta RFX8 VGNC VGNC:106210
Rattus norvegicus RFX8 RGD RGD:1560724
Bos taurus RFX8 VGNC VGNC:58404
Felis catus RFX8 VGNC VGNC:64589