PHF3 - PHD finger protein 3 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23469

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
Others PHF3 NCBI