1. Gene
  2. PHF6 - PHD finger protein 6 Gene

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

zf-HC5HC2H: PHD-like zinc-binding domain (42 - 132)

zf-HC5HC2H

zf-HC5HC2H: PHD-like zinc-binding domain (239 - 330)

  • 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

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