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  2. PHF3 - PHD finger protein 3 Gene

PHF3 - PHD finger protein 3 Gene

Homo sapiens
Gene ID: 23469 | Gene type: protein coding

About PHF3

Cytogenetic location: 6q12 Genomic coordinates (GRCh38): 6:63,635,802-63,726,011 (from NCBI)

This gene has 12 transcripts (splice variants), 218 orthologues and 2 paralogues. Ubiquitous expression in testis (RPKM 15.6), thyroid (RPKM 14.4) and 25 other tissues.

Summary

This gene encodes a member of a PHD finger-containing gene family. This gene may function as a transcription factor and may be involved in glioblastomas development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

PHF3 Products(6)

mRNA Protein Name
NM_001290259.2 NP_001277188.1 PHD finger protein 3 isoform 2
NM_001290260.2 NP_001277189.1 PHD finger protein 3 isoform 3
NM_001370348.2 NP_001357277.1 PHD finger protein 3 isoform 1
NM_001370349.2 NP_001357278.1 PHD finger protein 3 isoform 2
NM_001370350.2 NP_001357279.1 PHD finger protein 3 isoform 4
NM_015153.4 NP_055968.1 PHD finger protein 3 isoform 1

PHF3 Protein Structure

PHD

PHD: PHD-finger (720 - 770)

TFIIS_M

TFIIS_M: Transcription factor S-II (TFIIS), central domain (925 - 1038)

SPOC

SPOC: SPOC domain (1209 - 1315)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2039 a.a.
Protein Preferred Names Protein Names

PHD finger protein 3

Related Diseases

Diseases Alias
Retinitis Pigmentosa 25

RP25

Retinitis Pigmentosa-25

Retinitis Pigmentosa, Type 25

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Combined Oxidative Phosphorylation Deficiency 24

COXPD24

Combined Oxidative Phosphorylation Defect Type 24

Oxidative Phosphorylation Deficiency, Combined, Type 24

Combined Oxidative Phosphorylation Deficiency 20

COXPD20

Combined Oxidative Phosphorylation Defect Type 20

Oxidative Phosphorylation Deficiency, Combined, Type 20

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

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

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 PHF3 VGNC VGNC:32825
Macaca mulatta PHF3 VGNC VGNC:75975
Felis catus PHF3 VGNC VGNC:68823
Mus musculus PHF3 MGD MGI:2446126
Rattus norvegicus PHF3 RGD RGD:1304925
Canis familiaris PHF3 VGNC VGNC:44490