Gene Report

Basic Info
Approved Symbol RFX4
Approved Name regulatory factor X, 4 (influences HLA class II expression)
Location 12q24
Position chr12:106582907-106762803, 1
External Links HGNC: 9985
Entrez Gene: 5992
Ensembl: ENSG00000111783
UCSC: uc001tlt.3
No. of Studies 2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ? NO
Overlap with MDD? NO
Gene related studies (count: 2)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Yosifova, A.,2009 SNP: rs10778502 No SNP of this gene had significant association with BD in our population. Negative Comment on Study
Glaser, B.,2005(a) Haplotype: rs10778502 - ss24735177(), rs10778502 - ss24735177 - D12S2072()
Other variant: RFX4_D12S2072
In conclusion, the current study demonstrates the association of BPD with a haplotype at RFX4 derived from marker rs10778502 and ss24735177. Investigation of RFX4 brain cDNA tagged by rs10778502 provided evidence for significant differences in allelic expression, which might be modulated through variation at ss24735177. Positive Comment on Study
Gene functional annotation
Gene related GO terms (count: 16)

GO terms by PBA (count: 2)

GO terms by database search (count: 14)

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Related other genetic factors
Gene related SNPs (count: 37)

Literature-origin SNPs (count: 1)

LD-proxies (count: 36)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Gene related regions (count: 4)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Gene relationship with MDD

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Region: chr12:106582907..106762803 View in gBrowse
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