PHF21A - PHD finger protein 21A Gene

Also Known as BHC80; NEDMS; BM-006; IDDBCS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51317

About PHF21A

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:45,929,319-46,121,454 (from NCBI)

This gene has 36 transcripts (splice variants), 235 orthologues, 5 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 7.2), ovary (RPKM 5.9) and 25 other tissues.

Summary

The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM, Nov 2010]

PHF21A Products (10)

mRNA	Protein	Name
NM_001101802.3	NP_001095272.1	PHD finger protein 21A isoform a
NM_001352025.3	NP_001338954.1	PHD finger protein 21A isoform c
NM_001352026.3	NP_001338955.1	PHD finger protein 21A isoform c
NM_001352027.3	NP_001338956.1	PHD finger protein 21A isoform c
NM_001352028.1	NP_001338957.1	PHD finger protein 21A isoform b
NM_001352029.1	NP_001338958.1	PHD finger protein 21A isoform b
NM_001352030.3	NP_001338959.1	PHD finger protein 21A isoform 8
NM_001352031.3	NP_001338960.1	PHD finger protein 21A isoform d
NM_001352032.3	NP_001338961.1	PHD finger protein 21A isoform d
NM_016621.5	NP_057705.3	PHD finger protein 21A isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	15325272	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of DNA repair complex	IDA IDA: Inferred from direct assay	24217620	GOA
part of histone deacetylase complex	IDA IDA: Inferred from direct assay	15325272	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

PHF21A Protein Structure

AT_hook

PHD

0
200
400
600
680 a.a.

Protein Preferred Names	Protein Names
PHD finger protein 21A	BHC80a

PHF21A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PHF21A	Q96BD5	BANP	Homo sapiens	Q8N9N5-2	Y2H Prey Pooling	32296183
Intra	PHF21A	Q96BD5	BANP	Homo sapiens	Q8N9N5-2	Y2H Array	32296183
Intra	PHF21A	Q96BD5	BANP	Homo sapiens	Q8N9N5-2	Y2H Array	31515488
Intra	PHF21A	Q96BD5	L3MBTL3	Homo sapiens	Q96JM7-2	Validated Y2H	32296183
Intra	PHF21A	Q96BD5	L3MBTL3	Homo sapiens	Q96JM7-2	Y2H Prey Pooling	32296183
Intra	PHF21A	Q96BD5	L3MBTL3	Homo sapiens	Q96JM7-2	Y2H Array	32296183
Intra	PHF21A	Q96BD5	NUP62	Homo sapiens	P37198	Y2H Prey Pooling	32296183
Intra	PHF21A	Q96BD5	NUP62	Homo sapiens	P37198	Y2H Array	25416956
Intra	PHF21A	Q96BD5	NUP62	Homo sapiens	P37198	Y2H Array	32296183
Intra	PHF21A	Q96BD5	SP3	Homo sapiens	Q02447	Y2H Array	32296183
Intra	PHF21A	Q96BD5	SP3	Homo sapiens	Q02447	Y2H Prey Pooling	32296183
Intra	PHF21A	Q96BD5	TRAF1	Homo sapiens	Q13077	Y2H Prey Pooling	25416956
Intra	PHF21A	Q96BD5	EXOSC8	Homo sapiens	Q96B26	Y2H Prey Pooling	32296183
Intra	PHF21A	Q96BD5	EXOSC8	Homo sapiens	Q96B26	Y2H Array	32296183
Intra	PHF21A	Q96BD5	ZYX	Homo sapiens	Q15942	Y2H Array	31515488
Intra	PHF21A	Q96BD5	ZYX	Homo sapiens	Q15942	Validated Y2H	25416956
Intra	PHF21A	Q96BD5	ZYX	Homo sapiens	Q15942	Y2H Array	29892012
Intra	PHF21A	Q96BD5	FHL2	Homo sapiens	Q14192	Y2H Prey Pooling	32296183
Intra	PHF21A	Q96BD5	FHL2	Homo sapiens	Q14192	Y2H Array	32296183
Intra	PHF21A	Q96BD5	FHL3	Homo sapiens	Q13643	Y2H Array	25416956
Intra	PHF21A	Q96BD5	FHL3	Homo sapiens	Q13643	Y2H Prey Pooling	32296183
Intra	PHF21A	Q96BD5	FHL3	Homo sapiens	Q13643	Y2H Array	32296183
Intra	PHF21A	Q96BD5	FHL3	Homo sapiens	Q13643	Y2H Prey Pooling	25416956
Intra	PHF21A	Q96BD5	FHL3	Homo sapiens	Q13643	Validated Y2H	25416956
Intra	PHF21A	Q96BD5	BANP	Homo sapiens	Q8N9N5	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	IDDBCS Neurodevelopmental Disorder With Macrocephaly And With Or Without Seizures Nedms
Potocki-Shaffer Syndrome	Proximal 11p Deletion Syndrome Chromosome 11p11.2 Deletion Syndrome Pss 11p11.2 Deletion P11pds Defect11 Syndrome Deletion Of Chromosome 11p11.2 POSHS
Parietal Foramina	Enlarged Parietal Foramina Hereditary Cranium Bifidum Symmetric Parietal Foramina Catlin Marks Foramina Parietalia Permagna Caitlin Marks Cranium Bifidum Cranium Bifidum Occultum Fenestrae Parietals Symmetricae Fpp Giant Parietal Foramina Pfm Fenestrae Parietales Symmetricae Foramina, Parietal
Frontonasal Dysplasia 2	FND2 Frontonasal Dysplasia With Alopecia And Genital Anomaly Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome Alx4-Related Fndag Craniofrontonasal Dysplasia With Alopecia And Hypogonadism Frontonasal Dysplasia Type 2 Frontonasal Dysplasia With Alopecia And Genital Abnomality Doid:0081046 Dysplasia, Frontonasal, Type 2
Meier-Gorlin Syndrome 1	Meier-Gorlin Syndrome Ear, Patella, Short Stature Syndrome Microtia, Absent Patellae, Micrognathia Syndrome MGORS1 Eps Ear-Patella-Short Stature Syndrome Ear Patella Short Stature Syndrome Microtia Absent Patellae Micrognathia Syndrome Meier-Gorlin Syndrome, Type 1
Miles-Carpenter Syndrome	X-Linked Intellectual Disability, Miles-Carpenter Type Mcs Mental Retardation, X-Linked, Syndromic 4 Mental Retardation, X-Linked, With Congenital Contractures And Low Fingertip Arches Mrxs4 Miles-Carpenter X-Linked Mental Retardation Syndrome
Sotos Syndrome 3	Sotos3 Sotos Syndrome, Type 3
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Hepatic Venoocclusive Disease With Immunodeficiency	VODI Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome Hepatic Veno-Occlusive Disease With Immunodeficiency Familial Veno-Occlusive Disease With Immunodeficiency Veno-Occlusive Disease And Immunodeficiency Syndrome Vodi Syndrome Vodi - [Veno-Occlusive Disease Immunodeficiency] Syndrome
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
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
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
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Wagr Syndrome 11p Partial Monosomy Syndrome Chromosome 11p13 Deletion Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome 11p Deletion Syndrome Chromosome 11p Deletion Syndrome Wagr Complex Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome Deletion 11p13 WAGR Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome Chromosome 11p Deletion 11p Deletion 11p Monosomy Deletion 11p Monosomy 11p Partial Monosomy 11p Agr Triad Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome Wagr Contiguous Gene Syndrome Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome Del(11)(P13) Monosomy 11p13 Chromosome 11, Deletion 11p
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10423	PHF21A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PHF21A	VGNC	VGNC:75855
Mus musculus	PHF21A	MGD	MGI:2384756
Canis familiaris	PHF21A	VGNC	VGNC:44487
Rattus norvegicus	PHF21A	RGD	RGD:1560612
Felis catus	PHF21A	VGNC	VGNC:64142
Bos taurus	PHF21A	VGNC	VGNC:32821
Others	PHF21A	NCBI