1. Gene
  2. PHC2 - polyhomeotic homolog 2 Gene

PHC2 - polyhomeotic homolog 2 Gene

Homo sapiens

Also known as PH2; EDR2; HPH2

Gene ID: 1912 | Gene type: protein coding

About PHC2

Cytogenetic location: 1p35.1 Genomic coordinates (GRCh38): 1:33,323,626-33,431,095 (from NCBI)

This gene has 13 transcripts (splice variants), 149 orthologues and 18 paralogues. Ubiquitous expression in testis (RPKM 13.8), endometrium (RPKM 13.8) and 25 other tissues.

Summary

In Drosophila melanogaster, the 'Polycomb' group (PcG) of genes are part of a cellular memory system that is responsible for the stable inheritance of gene activity. PcG proteins form a large multimeric, chromatin-associated protein complex. The protein encoded by this gene has homology to the Drosophila PcG protein 'polyhomeotic' (Ph) and is known to heterodimerize with EDR1 and colocalize with BMI1 in interphase nuclei of human cells. The specific function in human cells has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

PHC2 Products(10)

mRNA Protein Name
NM_001330488.2 NP_001317417.1 polyhomeotic-like protein 2 isoform c
NM_001385109.1 NP_001372038.1 polyhomeotic-like protein 2 isoform e
NM_001385112.1 NP_001372041.1 polyhomeotic-like protein 2 isoform d
NM_001385119.1 NP_001372048.1 polyhomeotic-like protein 2 isoform e
NM_001385120.1 NP_001372049.1 polyhomeotic-like protein 2 isoform e
NM_001385121.1 NP_001372050.1 polyhomeotic-like protein 2 isoform f
NM_001385122.1 NP_001372051.1 polyhomeotic-like protein 2 isoform c
NM_001385123.1 NP_001372052.1 polyhomeotic-like protein 2 isoform g
NM_004427.4 NP_004418.2 polyhomeotic-like protein 2 isoform b
NM_198040.3 NP_932157.1 polyhomeotic-like protein 2 isoform a
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10976766 GOA
Cellular Component GO Annotation Evidence Reference Source
part of PRC1 complex IDA
IDA: Inferred from direct assay
12167701 GOA
part of PcG protein complex IDA
IDA: Inferred from direct assay
21282530 GOA
located in nucleus IDA
IDA: Inferred from direct assay
21282530 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

PHC2 Protein Structure

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (793 - 856)

  • 0
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  • 800
  • 858 a.a.
Protein Preferred Names Protein Names

polyhomeotic-like protein 2

early development regulator 2 (homolog of polyhomeotic 2)

Related Diseases

Diseases Alias
Conventional Angiosarcoma
Akinetopsia
Form Agnosia
Pontocerebellar Hypoplasia, Type 12

PCH12

Pontocerebellar Hypoplasia Type 12

Coasy-Related Pontocerebellar Hypoplasia

Pontocerebellar Hypoplasia 12

Doid:0112327

Hypoplasia, Pontocerebellar, 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

Orthologs Information

Species Symbol Source ID
Felis catus PHC2 VGNC VGNC:64134
Mus musculus PHC2 MGD MGI:1860454
Canis familiaris PHC2 VGNC VGNC:44478
Rattus norvegicus PHC2 RGD RGD:1307912
Macaca mulatta PHC2 VGNC VGNC:75903
Bos taurus PHC2 VGNC VGNC:32811