1. Gene
  2. PHF12 - PHD finger protein 12 Gene

PHF12 - PHD finger protein 12 Gene

Homo sapiens

Also known as PF1

Gene ID: 57649 | Gene type: protein coding

About PHF12

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:28,905,250-28,951,518 (from NCBI)

This gene has 17 transcripts (splice variants), 252 orthologues and 5 paralogues. Ubiquitous expression in bone marrow (RPKM 8.9), spleen (RPKM 8.2) and 25 other tissues.

Summary

Enables phosphatidylinositol binding activity and transcription corepressor activity. Involved in negative regulation of transcription, DNA-templated. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of Sin3 complex and transcription repressor complex. [provided by Alliance of Genome Resources, Apr 2022]

PHF12 Products(3)

mRNA Protein Name
NM_001033561.2 NP_001028733.1 PHD finger protein 12 isoform 1
NM_001290131.2 NP_001277060.1 PHD finger protein 12 isoform 3
NM_020889.3 NP_065940.1 PHD finger protein 12 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables phosphatidylinositol binding IDA
IDA: Inferred from direct assay
16893883 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11390640 GOA
enables transcription corepressor activity IDA
IDA: Inferred from direct assay
22048773 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
11390640 GOA
acts upstream of or within negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
22048773 GOA
Cellular Component GO Annotation Evidence Reference Source
part of Sin3-type complex IDA
IDA: Inferred from direct assay
22048773 GOA
located in nucleus IDA
IDA: Inferred from direct assay
11390640 GOA
part of transcription repressor complex IDA
IDA: Inferred from direct assay
11390640 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

PHF12 Protein Structure

PHD

PHD: PHD-finger (59 - 104)

PHD

PHD: PHD-finger (273 - 316)

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  • 800
  • 1004 a.a.
Protein Preferred Names Protein Names

PHD finger protein 12

PHD factor 1

Related Diseases

Diseases Alias
Peroneal Nerve Paralysis

Peroneal Nerve Palsy

Heel Spur

Calcaneal Spur

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
Canis familiaris PHF12 VGNC VGNC:44482
Macaca mulatta PHF12 VGNC VGNC:75838
Felis catus PHF12 VGNC VGNC:64138
Rattus norvegicus PHF12 RGD RGD:1305731
Mus musculus PHF12 MGD MGI:1924057
Bos taurus PHF12 VGNC VGNC:32814