EPOP - elongin BC and polycomb repressive complex 2 associated protein Gene

Also Known as PRR28; C17orf96

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 100170841

About EPOP

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:38,671,703-38,674,957 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 83 orthologues and 2 paralogues.

Summary

Predicted to enable chromatin binding activity. Predicted to be involved in several processes, including histone H2B conserved C-terminal lysine deubiquitination; neuron fate commitment; and stem cell differentiation. Predicted to be located in chromosome. Predicted to colocalize with ESC/E(Z) complex and elongin complex. [provided by Alliance of Genome Resources, Apr 2022]

EPOP Products (1)

mRNA Protein Name
NM_001130677.2 NP_001124149.1 elongin BC and Polycomb repressive complex 2-associated protein

EPOP Protein Structure

DUF4584

DUF4584: Domain of unknown function (DUF4584) (269 - 373)

  • 0
  • 100
  • 200
  • 300
  • 379 a.a.
Protein Preferred Names Protein Names

elongin BC and Polycomb repressive complex 2-associated protein

  • proline rich 28

Related Diseases

Diseases Alias
Kleefstra Syndrome 2
  • KLEFS2

  • Kleefstra Syndrome, Type 2

Weaver Syndrome
  • Wss

  • Weaver-Smith Syndrome

  • WVS

  • Weaver-Like Syndrome

  • Weaver-Williams Syndrome

  • Camptodactyly-Overgrowth-Unusual Facies Syndrome

  • Camptodactyly - Overgrowth - Unusual Facies

  • Ezh2 Related Overgrowth

  • Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly

  • Weaver Smith Syndrome

  • Weaver Like Syndrome

  • Weaver Williams Syndrome

  • Camptodactyly-Overgrowth-Unusual Facies

  • Weaver Syndrome 1

  • Weaver Syndrome 2

  • Wvs1

  • Wvs2

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
Macaca mulatta EPOP VGNC VGNC:72254
Rattus norvegicus EPOP RGD RGD:1587434
Mus musculus EPOP MGD MGI:2143991
Bos taurus EPOP VGNC VGNC:28550
Canis familiaris EPOP VGNC VGNC:40423
Felis catus EPOP VGNC VGNC:98948
Others EPOP NCBI