PHF6 - PHD finger protein 6 Gene

Homo sapiens

Also known as BFLS; BORJ; CENP-31

Gene ID: 84295 | Gene type: protein coding

About PHF6

Cytogenetic location: Xq26.2 Genomic coordinates (GRCh38): X:134,373,312-134,428,790 (from NCBI)

This gene has 12 transcripts (splice variants), 199 orthologues, 3 paralogues and is associated with 74 phenotypes. Ubiquitous expression in ovary (RPKM 17.4), lymph node (RPKM 13.6) and 25 other tissues.

Summary

This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by cognitive disability, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010]

PHF6 Products(3)

mRNA	Protein	Name
NM_001015877.2	NP_001015877.1	PHD finger protein 6 isoform 1
NM_032335.3	NP_115711.2	PHD finger protein 6 isoform 2
NM_032458.3	NP_115834.1	PHD finger protein 6 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	22720776	GOA
enables histone binding	IPI IPI: Inferred from physical interaction	22720776	GOA
enables histone deacetylase binding	IPI IPI: Inferred from physical interaction	22720776	GOA
enables phosphoprotein binding	IPI IPI: Inferred from physical interaction	22720776	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22720776	GOA
enables ribonucleoprotein complex binding	IPI IPI: Inferred from physical interaction	22720776	GOA
enables scaffold protein binding	IPI IPI: Inferred from physical interaction	22720776	GOA
enables tubulin binding	IPI IPI: Inferred from physical interaction	22720776	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	24554700	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleolus	IDA IDA: Inferred from direct assay	22720776	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	22720776	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

PHF6 Protein Structure

zf-HC5HC2H

0
100
200
300
365 a.a.

Protein Preferred Names

Protein Names

PHD finger protein 6

PHD-like zinc finger protein

Related Diseases

Diseases

Alias

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

Lateral Meningocele Syndrome

Lehman Syndrome	Lms
LMNS	Meningocele, Lateral Syndrome

Gynecomastia

Hypogonadism

Mixed Phenotype Acute Leukemia, T/Myeloid

Doid:0081039

Acute Biphenotypic Leukemia

Mixed Phenotype Acute Leukemia	Acute Leukemia Of Ambiguous Lineage
Acute Undifferentiated Leukemia	Acute Leukemia Of Indeterminate Lineage
Hybrid Acute Leukemia	Mixed Lineage Acute Leukemia
All With Myeloid Markers	Aml With Lymphoid Markers
Acute Leukemia Of Undetermined Lineage	Bal
Biphenotypic Acute Leukemia	Undifferentiated Acute Leukemia
Mpal	Acute Myeloid Leukemia, Minimal Differentiation, Fab M0
Leukemia, Biphenotypic, Acute

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome	Fifth Digit Syndrome
Css	CSS1
Mrd12	Mental Retardation, Autosomal Dominant 12
Hhid	Dwarfism-Onychodysplasia
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features	Autosomal Dominant Mental Retardation 12
Short Stature-Onychodysplasia.	Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails	Short Stature-Onychodysplasia
Coffin-Siris Syndrome, Type 1	Mental Retardation, Autosomal Dominant, Type 12

Partington Syndrome

X-Linked Reticulate Pigmentary Disorder	PRTS
Partington X-Linked Mental Retardation Syndrome	Mrxs1
Mrx36	Intellectual Developmental Disorder, X-Linked, Syndromic 1
Partington Disease	Pdr
Partington-Mulley Syndrome	Russell-Silver Syndrome, X-Linked
Mental Retardation, X-Linked, Syndromic 1	Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures
Mental Retardation, X-Linked 36	X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations
X-Linked Russell-Silver Syndrome	Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome
Intellectual Disability, X-Linked, Syndromic 1	Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures
Partington X-Linked Intellectual Disability Syndrome	X-Linked Intellectual Deficit-Dystonia-Dysarthria
X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures	Familial Cutaneous Amyloidosis
X-Linked Cutaneous Amyloidosis	Xlpdr
X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome	Pigmentary Disorder, Reticulate, With Systemic Manifestations

Syndromic Intellectual Disability

Autosomal Dominant Intellectual Developmental Disorder

Autosomal Dominant Mental Retardation	Autosomal Dominant Non-Syndromic Mental Retardation
Autosomal Dominant Non-Syndromic Intellectual Disability	Mental Retardation, Autosomal Dominant

Pick Disease Of Brain

Pick Disease	Pick'S Disease
Pick Disease Of The Brain	Lobar Atrophy Of Brain
Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions	Behavioral Variant Of Frontotemporal Dementia
Dementia In Pick'S Disease	Lobar Atrophy Of The Brain
Bvftd	Bv-Ftd
PIDB	Picks Disease

Body Mass Index Quantitative Trait Locus 11

OBESITY	Obesity, Susceptibility To
Leanness, Inherited	Obesity, Susceptibility To, Bmiq11
Obesity, Mild, Early-Onset	Obesity, Association With
Obesity, Early-Onset, Susceptibility To	Obesity, Severe
Obesity, Severe, And Type Ii Diabetes	Obesity, Late-Onset
Obesity , Susceptibility To	BMIQ11
Obesity Bmiq11	Obesity, Early-Onset
Simple Obesity Nos	Excess Fat
Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified	Adiposis

Leukemia, Acute Myeloid

Acute Myeloid Leukemia	Leukemia, Acute Myelogenous
Acute Myelogenous Leukemia	AML
Leukemia, Acute Myeloid, Susceptibility To	Acute Myeloblastic Leukemia
Leukemia, Acute Myeloid, Reduced Survival In, Somatic	Acute Myeloid Leukaemia
Leukemia, Myelocytic, Acute	Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
Secondary Aml	Acute Myelocytic Leukemia
Acute Myeloid Leukemia, Somatic	Leukemia, Acute Myeloid, Somatic
Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic	Acute Myeloblastic Leukaemia
Acute Myelogenous Leukaemia	Aml - Acute Myeloid Leukemia
Acute Myeloid Leukemia With Cebpa Somatic Mutations	Aml With Cebpa Somatic Mutations
Inherited Acute Myeloid Leukemia	Familial Aml
Inherited Aml	Pure Familial Aml
Pure Familial Acute Myeloid Leukemia	Secondary Acute Myeloid Leukemia
Therapy-Related Aml And Myelodysplastic Syndrome	Acute Myeloid Leukemia, Secondary
Acute Non-Lymphoblastic Leukemia	Acute Non-Lymphocytic Leukemia
Acute Biphenotypic Leukemia	Acute Undifferentiated Leukemia
Acute Myeloblastic Leukaemia With Multilineage Dysplasia	Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
Acute Myeloid Leukaemia With Myelodysplasia-Related Features

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

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P1675A	Acetyl-PHF6 amide TFA		95.36%	Unkown
HY-P4808A	PHF6 TFA	Activator	99.03%	Unkown
HY-138643	Cl-NQTrp		99.97%	Unkown
HY-P4808	PHF6	Activator	/	Unkown
HY-RS10429	PHF6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PHF6	VGNC	VGNC:97297
Rattus norvegicus	PHF6	RGD	RGD:2323526
Macaca mulatta	PHF6	VGNC	VGNC:75825
Mus musculus	PHF6	MGD	MGI:1918248
Canis familiaris	PHF6	VGNC	VGNC:44492

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