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

Homo sapiens

Also known as PRR28; C17orf96

Gene ID: 100170841 | Gene type: protein coding

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04447	EPOP Human Pre-designed siRNA Set A		/	Unkown

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