1. Gene
  2. PCGF1 - polycomb group ring finger 1 Gene

PCGF1 - polycomb group ring finger 1 Gene

Homo sapiens

Also known as NSPC1; RNF68; RNF3A-2; 2010002K04Rik

Gene ID: 84759 | Gene type: protein coding

About PCGF1

Cytogenetic location: 2p13.1 Genomic coordinates (GRCh38): 2:74,505,043-74,507,695 (from NCBI)

This gene has 7 transcripts (splice variants), 203 orthologues and 7 paralogues. Ubiquitous expression in thyroid (RPKM 3.8), testis (RPKM 3.8) and 25 other tissues.

Summary

PCGF1 is a mammalian homolog of the Drosophila polycomb group genes, which act as transcriptional repressors to regulate anterior-posterior patterning in early embryonic development (Nunes et al., 2001 [PubMed 11287196]). See also PCGF2 (MIM 600346).[supplied by OMIM, Aug 2008]

PCGF1 Products(1)

mRNA Protein Name
NM_032673.3 NP_116062.2 polycomb group RING finger protein 1

PCGF1 Protein Structure

zf-C3HC4

zf-C3HC4: Zinc finger, C3HC4 type (RING finger) (47 - 85)

  • 0
  • 100
  • 200
  • 259 a.a.
Protein Preferred Names Protein Names

polycomb group RING finger protein 1

RING finger protein 68

Related Diseases

Diseases Alias
Pontocerebellar Hypoplasia, Type 13

PCH13

Pontocerebellar Hypoplasia Type 13

Pontocerebellar Hypoplasia 13

Doid:0112332

Hypoplasia, Pontocerebellar, Type 13

Microphthalmia, Syndromic 2

Oculofaciocardiodental Syndrome

Ofcd Syndrome

MCOPS2

Microphthalmia, Cataracts, Radiculomegaly, And Septal Heart Defects

Syndromic Microphthalmia 2

Anop2

Cataract-Microphthalmia-Radiculomegaly-Cardiac Septal Defect Syndrome

Maa2

Microphthalmia Cataracts Radiculomegaly And Septal Heart Defects

Syndromic Microphthalmia Type 2

Oculo-Facio-Cardio-Dental Syndrome

Anop2, Formerly

Maa2, Formerly

Microphthalmia Syndromic 2

Oculo Facio Cardio Dental Syndrome

Microphthalmia, Syndromic, 2

Marashi-Gorlin Syndrome

Microphthalmia, Cataracts, Radiculomegaly And Septal Heart Defects

Microphthalmia, Syndromic, Type 2

Syndromic Microphthalmia

Microphthalmia, Syndromic

Diffuse Large B-Cell Lymphoma

Dlbcl

Diffuse Large B-Cell Lymphoma, Not Otherwise Specified

Large B-Cell Diffuse Lymphoma

Lymphoma, Large B-Cell, Diffuse

Dlbcl - [Diffuse Large B-Cell Lymphoma]

Diffuse Large Beta Cell Lymphoma

Microphthalmia, Syndromic 1

MCOPS1

Lenz Microphthalmia Syndrome

Lenz Dysplasia

Mcops4

Syndromic Microphthalmia 1

Lenz Microphthalmia

Maa

Microphthalmia Or Anophthalmos With Associated Anomalies

Syndromic Microphthalmia Type 4

Microphthalmia, Syndromic 4

Microphthalmia, Syndromic 4, Formerly

Mcops4, Formerly

Anop1, Formerly

Maa, Formerly

Lenz Type Microphthalmia

Syndromic Microphthalmia 4

Microphthalmia Lenz Type

Microphthalmia Syndromic 1

Syndromic Microphthalmia Type 1

Microphthalmia Syndromic 4

Microphthalmia With Ankyloblepharon And Intellectual Disability

Microphthalmia, Lenz Type

Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome

Microphthalmia, Syndromic, 1

Anop1

Microphthalmia, Syndromic, Type 1

Kidney Clear Cell Sarcoma

Clear Cell Sarcoma Of Kidney

Childhood Kidney Clear Cell Sarcoma

Renal Clear Cell Sarcoma

Ccsk

Clear Cell Sarcoma Of The Kidney

Endometrial Stromal Sarcoma

Ess

Endometrial Stromal Sarcoma, High Grade

Undifferentiated Endometrial Sarcoma

Stromal Sarcoma Of The Corpus Uteri

Sarcoma Endometrial Stromal

Sarcoma, Endometrial Stromal

Undifferentiated Stromal Sarcoma

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
Mus musculus PCGF1 MGD MGI:1917087
Felis catus PCGF1 VGNC VGNC:81141
Canis familiaris PCGF1 VGNC VGNC:44300
Bos taurus PCGF1 VGNC VGNC:32626
Macaca mulatta PCGF1 VGNC VGNC:75640
Rattus norvegicus PCGF1 RGD RGD:1549782