PHF8 - PHD finger protein 8 Gene

Also Known as KDM7B; JHDM1F; MRXSSD; ZNF422

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23133

About PHF8

Cytogenetic location: Xp11.22 Genomic coordinates (GRCh38): X:53,936,680-54,048,936 (from NCBI)

This gene has 22 transcripts (splice variants), 206 orthologues, 4 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 19.3), ovary (RPKM 6.7) and 25 other tissues.

Summary

The protein encoded by this gene is a histone lysine demethylase that preferentially acts on histones in the monomethyl or dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxoglutarate, and oxygen for its catalytic activity. The protein has an N-terminal PHD finger and a central Jumonji C domain. This gene is thought to function as a transcription activator. Defects in this gene are a cause of syndromic X-linked Siderius type intellectual disability (MRXSSD) and over-expression of this gene is associated with several forms of Cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

PHF8 Products (4)

mRNA	Protein	Name
NM_001184896.1	NP_001171825.1	histone lysine demethylase PHF8 isoform 1
NM_001184897.2	NP_001171826.1	histone lysine demethylase PHF8 isoform 3
NM_001184898.2	NP_001171827.1	histone lysine demethylase PHF8 isoform 4
NM_015107.3	NP_055922.1	histone lysine demethylase PHF8 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 2-oxoglutarate-dependent dioxygenase activity	IDA IDA: Inferred from direct assay	20023638	GOA
enables chromatin binding	IDA IDA: Inferred from direct assay	20622854	GOA
enables histone H3K27me2/H3K27me3 demethylase activity	IDA IDA: Inferred from direct assay	20622853	GOA
enables histone H3K36 demethylase activity	IDA IDA: Inferred from direct assay	20208542	GOA
enables histone H3K9 demethylase activity	IDA IDA: Inferred from direct assay	20023638	GOA
enables histone H4K20 demethylase activity	IDA IDA: Inferred from direct assay	20622853	GOA
enables histone demethylase activity	IDA IDA: Inferred from direct assay	19843542	GOA
enables iron ion binding	IDA IDA: Inferred from direct assay	20023638	GOA
enables methylated histone binding	IDA IDA: Inferred from direct assay	20023638	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20208542	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	20023638	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in G1/S transition of mitotic cell cycle	IMP IMP: Inferred from mutant phenotype	20622854	GOA
involved in negative regulation of rDNA heterochromatin formation	IDA IDA: Inferred from direct assay	20208542	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	20622853	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	20346720	GOA
involved in positive regulation of transcription by RNA polymerase I	IDA IDA: Inferred from direct assay	20208542	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	31691806	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleolus	IDA IDA: Inferred from direct assay	20208542	GOA
located in nucleus	IDA IDA: Inferred from direct assay	19843542	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

PHF8 Protein Structure

PHD

JmjC

0
200
400
600
800
1000
1060 a.a.

Protein Preferred Names	Protein Names
histone lysine demethylase PHF8	[histone H3]-dimethyl-L-lysine(36) demethylase PHF8

PHF8 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PHF8	Q9UPP1	ARX	Homo sapiens	Q96QS3	Anti Bait CoIP	34356104
Intra	PHF8	Q9UPP1	ARX	Homo sapiens	Q96QS3	Anti Tag CoIP	34356104
Intra	PHF8	Q9UPP1	ZNF711	Homo sapiens	Q9Y462	Anti Bait CoIP	20346720
Intra	PHF8	Q9UPP1	ZNF711	Homo sapiens	Q9Y462	Anti Tag CoIP	20346720
Intra	PHF8	Q9UPP1	ZNF711	Homo sapiens	Q9Y462	Y2H	20346720
Intra	PHF8	Q9UPP1	ZNF711	Homo sapiens	Q9Y462	Anti Tag CoIP	34356104
Intra	PHF8	Q9UPP1	RBPJ	Homo sapiens	Q06330	Anti Tag CoIP	23022380

Cross: Cross-species interaction Intra: Intraspecies interaction

PHF8 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82579	PHF8 Antibody (YA2324)	WB, ICC/IF, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	MRXSSD Siderius-Hamel Syndrome X-Linked Intellectual Disability, Siderius Type Intellectual Deficit X-Linked Siderius Type Mental Retardation, X-Linked, Syndromic, Siderius Type Intellectual Developmental Disorder, X-Linked Syndromic, Siderius Type Siderius Hamel Syndrome X-Linked Intellectual Disability Hamel Type Syndromic X-Linked Mental Retardation, Siderius Type X-Linked Mental Retardation Hamel Type Siderius X-Linked Mental Retardation Syndrome
Syndromic X-Linked Intellectual Disability Siderius Type	Mrxssd Siderius-Hamel Syndrome Siderius X-Linked Mental Retardation Syndrome
Cleft Lip	Cheiloschisis Labium Leporinum Cleft Lip, Unilateral, Complete Complete Unilateral Cleft Lip Hare Lip Congenital Fissure Of Lip Isolated Cleft Lip Cleft Lip Without Cleft Palate Cleft Lip Without Cleft Palate, Unilateral Isolated Cleft Lip, Unilateral Cleft Lip Without Cleft Palate, Bilateral Isolated Cleft Lip, Bilateral
Stocco Dos Santos Type X-Linked Intellectual Disability	X-Linked Intellectual Disability, Stocco Dos Santos Type Stocco Dos Santos Syndrome Sdsx Stocco Dos Santos X-Linked Mental Retardation Syndrome
Borjeson-Forssman-Lehmann Syndrome	BFLS Borj Borjeson Syndrome Mrxsbfl Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type Mental Retardation, Epilepsy, And Endocrine Disorders Mental Retardation, Epilepsy, And Endocrine Disorder Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type Mental Deficiency, Epilepsy And Endocrine Disorders Boerjeson-Forssman-Lehmann Syndrome Borjeson-Forssman Syndrome Mental Deficiency-Epilepsy- Endocrine Disorders
Van Der Woude Syndrome	Lip-Pit Syndrome Vws Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip Vdws Lps Lip Pit Syndrome Cleft Lip/Palate With Mucous Cysts Of Lower Lip Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments
Kabuki Syndrome 1	Kabuki Syndrome Niikawa-Kuroki Syndrome Kabuki Make-Up Syndrome Kms KABUK1 Kabuki Make Up Syndrome Nks Kabuki Makeup Syndrome Kabuki Syndrome, Type 1
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Orofacial Cleft	Cleft, Orofacial
Syndromic X-Linked Intellectual Disability	X-Linked Syndromic Intellectual Disability
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Syndromic Intellectual Disability

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

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-13643	Daminozide	Inhibitor	99.79%	Unkown
HY-153608	JHDM-IN-1	Inhibitor	97.60%	Unkown
HY-RS10431	PHF8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18042	Phf8 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24516	Phf8 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PHF8	VGNC	VGNC:64147
Bos taurus	PHF8	VGNC	VGNC:32828
Mus musculus	PHF8	MGD	MGI:2444341
Macaca mulatta	PHF8	VGNC	VGNC:75836
Canis familiaris	PHF8	VGNC	VGNC:44494
Rattus norvegicus	PHF8	RGD	RGD:1561065
Others	PHF8	NCBI