PHF10 - PHD finger protein 10 Gene

Also Known as BAF45A; XAP135; SMARCG4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55274

About PHF10

Cytogenetic location: 6q27 Genomic coordinates (GRCh38): 6:169,703,902-169,724,500 (from NCBI)

This gene has 6 transcripts (splice variants), 210 orthologues and 9 paralogues. Ubiquitous expression in adrenal (RPKM 31.1), ovary (RPKM 25.5) and 25 other tissues.

Summary

This gene contains a predicted ORF that encodes a protein with two zinc finger domains. The function of the encoded protein is not known. Sequence analysis suggests that multiple alternatively spliced transcript variants are derived from this gene but the full-length nature of only two of them is known. These two splice variants encode different isoforms. A pseudogene for this gene is located on Xq28. [provided by RefSeq, Jul 2008]

PHF10 Products (2)

mRNA	Protein	Name
NM_018288.4	NP_060758.2	PHD finger protein 10 isoform a
NM_133325.3	NP_579866.2	PHD finger protein 10 isoform b

Gene Ontology

Molecular Function

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

PHF10 Protein Structure

PHD

0
100
200
300
400
498 a.a.

Protein Preferred Names	Protein Names
PHD finger protein 10	BRG1-associated factor 45a

Related Diseases

Diseases	Alias
Chromosome 6q24-Q25 Deletion Syndrome	Chromosome 6q25-Q25 Deletion Syndrome 6q25 Microdeletion Syndrome Monosomy 6q25 Del(6)(Q25)
Spinal Meningioma	Spinal Cord Meningioma Meningioma, Spine Meningioma Meningioma, Benign, No Icd-O Subtype
Spinal Canal And Spinal Cord Meningioma
Neurilemmomatosis	Schwannomatosis Neurofibromatosis Type 3 Nf3 Neurilemmomatosis Congenital Cutaneous Neurinomatosis Congenital Cutaneous Neurilemmomatosis Multiple Neurilemmomas Multiple Schwannomas Neurilemmomatosis, Congenital Cutaneous Schwannomatosis 1 Neurofibromatosis 3 Mixed Central And Peripheral Neurofibromatosis Nf3 - [Neurofibromatosis Type 3]
Clark-Baraitser Syndrome	CLABARS Baraitser Syndrome Autosomal Dominant Intellectual Disability 49 Mental Retardation, Autosomal Dominant 49, Formerly Mrd49, Formerly Intellectual Developmental Disorder, Autosomal Dominant 49 Autosomal Dominant Mental Retardation 49 Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features Mrd49 Progeria Short Stature Pigmented Nevi
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
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
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

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-RS10414	PHF10 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PHF10	VGNC	VGNC:75826
Rattus norvegicus	PHF10	RGD	RGD:1305266
Bos taurus	PHF10	VGNC	VGNC:32813
Canis familiaris	PHF10	VGNC	VGNC:44480
Mus musculus	PHF10	MGD	MGI:1919307
Felis catus	PHF10	VGNC	VGNC:64137
Others	PHF10	NCBI