1. Gene
  2. PHC3 - polyhomeotic homolog 3 Gene

PHC3 - polyhomeotic homolog 3 Gene

Homo sapiens

Also known as EDR3; HPH3

Gene ID: 80012 | Gene type: protein coding

About PHC3

Cytogenetic location: 3q26.2 Genomic coordinates (GRCh38): 3:170,087,584-170,181,733 (from NCBI)

This gene has 17 transcripts (splice variants), 260 orthologues and 18 paralogues. Ubiquitous expression in bone marrow (RPKM 7.6), thyroid (RPKM 6.5) and 25 other tissues.

Summary

Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in negative regulation of transcription, DNA-templated. Located in nucleoplasm. Part of PRC1 complex. [provided by Alliance of Genome Resources, Apr 2022]

PHC3 Products(2)

mRNA Protein Name
NM_001308116.2 NP_001295045.1 polyhomeotic-like protein 3 isoform 2
NM_024947.4 NP_079223.3 polyhomeotic-like protein 3 isoform 1
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 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
17001316 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

PHC3 Protein Structure

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (918 - 981)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 983 a.a.
Protein Preferred Names Protein Names

polyhomeotic-like protein 3

early development regulator 3

Related Diseases

Diseases Alias
Toxic Myocarditis
Hyperoxaluria, Primary, Type Iii

Primary Hyperoxaluria Type 3

HP3

Ph Iii

Primary Hyperoxaluria Type Iii

Hyperoxaluria Primary 3

Hyperoxaluria Non-Hp1/Non-Hp2

Hyperoxaluria Non-Ph I/Ph Ii Form

Hyperoxaluria Primary Type Iii

Hyperoxaluria, Primary, Type Ii

Primary Hyperoxaluria Type 2

D-Glycerate Dehydrogenase Deficiency

Glyoxylate Reductase/Hydroxypyruvate Reductase Deficiency

HP2

Oxalosis Ii

Glyceric Aciduria

L-Glyceric Aciduria

Primary Hyperoxaluria, Type Ii

Oxalosis 2

Hyperoxaluria Primary 2

Hyperoxaluria Primary Type Ii

Ph2

Primary Hyperoxaluria Type Ii

Laurence-Moon Syndrome

LNMS

Laurence-Moon-Biedl Syndrome

Nephronophthisis 2

NPHP2

Nph2

Nephronophthisis 2, Infantile

Infantile Nephronophthisis 2

Infantile Nephronophthisis

Nephronophthisis, Type 2

Retinitis Pigmentosa 30

RP30

Retinitis Pigmentosa-30

Retinitis Pigmentosa, Type 30

46,Xy Sex Reversal 8

SRXY8

Male Pseudohermaphroditism Due To Deficiency Of Testicular 17,20-Desmolase

Tdd

46,Xy Disorder Of Sex Development Due To Testicular 17,20-Desmolase Deficiency

46xy Sex Reversal 8

46xy Sex Reversal 8, Modifier Of

Male Pseudohermaphroditism: Deficiency Of Testicular 17,20-Desmolase

Nephronophthisis 3

NPHP3

Nph3

Adolescent Nephronophthisis

Nephronophthisis, Type 3

Methylmalonic Aciduria And Homocystinuria, Cblx Type

Mental Retardation, X-Linked 3

Methylmalonic Acidemia With Homocystinuria, Type Cblx

MAHCX

Intellectual Developmental Disorder, X-Linked 3

Xlid3

Mrx3

Methylmalonic Acidemia And Homocysteinemia Cblx Type

Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx

Methylmalonic Aciduria With Homocystinuria, Type Cblx

Methylmalonic Acidemia And Homocysteinemia, Cblx Type

Methylmalonic Aciduria And Homocysteinemia, Cblx Type

Methylmalonic Aciduria And Homocysteinemia , Cblx Type

Mental Retardation, X-Linked, Type 3

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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 PHC3 VGNC VGNC:64135
Rattus norvegicus PHC3 RGD RGD:1307998
Mus musculus PHC3 MGD MGI:2181434
Canis familiaris PHC3 VGNC VGNC:53462
Bos taurus PHC3 VGNC VGNC:50022
Macaca mulatta PHC3 VGNC VGNC:75804