Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	PHF8
Symbol Alias	ZNF422, KIAA1111, JHDM1F
Approved Name	PHD finger protein 8
Name Alias	jumonji C domain-containing histone demethylase 1F
Location	Xp11.22
Position	chrX:53936676-54048958, -1
External Links	HGNC: 20672 Entrez Gene: 23133 Ensembl: ENSG00000172943 UCSC: uc004dsu.3
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Curtis, D.,2011	SNP: rs7065696	There is a trend of this gene for significant association.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 28)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007420	brain development	biological process	ISS	25
GO:0005634	nucleus	cellular component	IC[20023638]; IDA	283

GO terms by database search (count: 26)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0000082	G1/S transition of mitotic cell cycle	biological process	IMP[20622854]	9
GO:0045893	positive regulation of transcription, DNA-templated	biological process	IDA[20622853]; IMP[20346720]	58
GO:0005730	nucleolus	cellular component	IDA[20208542]	28
GO:0035064	methylated histone binding	molecular function	IDA[20023638]	3
GO:0035575	histone demethylase activity (H4-K20 specific)	molecular function	IDA[20622853]	1
GO:0045943	positive regulation of transcription from RNA polymerase I promoter	biological process	IDA[20208542]	2
GO:0051864	histone demethylase activity (H3-K36 specific)	molecular function	IDA[20208542]	1
GO:0070544	histone H3-K36 demethylation	biological process	IDA[20208542]	1
GO:0032452	histone demethylase activity	molecular function	IDA[19843542]	1
GO:0071558	histone demethylase activity (H3-K27 specific)	molecular function	IDA[20622853]	1
GO:0005515	protein binding	molecular function	IPI[20208542]	563
GO:0005654	nucleoplasm	cellular component	TAS	163
GO:0005506	iron ion binding	molecular function	IDA[20023638]	8
GO:0071557	histone H3-K27 demethylation	biological process	IDA[20622853]	1
GO:0033169	histone H3-K9 demethylation	biological process	IDA[20023638]	1
GO:0006325	chromatin organization	biological process	TAS	14
GO:0055114	oxidation-reduction process	biological process	IEA	43
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0016706	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors	molecular function	IDA[20023638]	2
GO:0035574	histone H4-K20 demethylation	biological process	IDA[20622853]	1
GO:0008270	zinc ion binding	molecular function	IDA[20023638]	77
GO:0003682	chromatin binding	molecular function	IDA[20622854]	23
GO:0000278	mitotic cell cycle	biological process	TAS	33
GO:0061188	negative regulation of chromatin silencing at rDNA	biological process	IDA[20208542]	1
GO:0032454	histone demethylase activity (H3-K9 specific)	molecular function	IDA[20023638]	1
GO:0031965	nuclear membrane	cellular component	IDA	15

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 8)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs7065696	chrX:53947621 - 53947621(1)	intron_variant; upstream_gene_variant	1(0/0/1)

LD-proxies (count: 7)

rs_ID	Location	Functional Annotation
rs7883722	chrX:53989788 - 53989788(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs7883019	chrX:53942914 - 53942914(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs7879511	chrX:53989707 - 53989707(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs7886772	chrX:53940551 - 53940551(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs17002479	chrX:54038353 - 54038353(1)	downstream_gene_variant; intron_variant
rs7892782	chrX:53937191 - 53937191(1)	3_prime_UTR_variant; downstream_gene_variant
rs17002477	chrX:54038102 - 54038102(1)	downstream_gene_variant; intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 0)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
21057379	There is a trend of this gene for significant association.	Trend

Overlap with SZ from candidate gene intersection analysis (count: 0)

Gene relationship with MDD

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Region: chrX:53936676..54048958 View in gBrowse