AEBP2 - AE binding protein 2 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 121536

About AEBP2

Cytogenetic location: 12p12.3 Genomic coordinates (GRCh38): 12:19,404,072-19,522,227 (from NCBI)

This gene has 9 transcripts (splice variants), 254 orthologues and 14 paralogues. Ubiquitous expression in placenta (RPKM 7.9), thyroid (RPKM 7.0) and 25 other tissues.

Summary

Predicted to enable transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of transcription, DNA-templated. Located in nucleoplasm. Part of ESC/E(Z) complex. [provided by Alliance of Genome Resources, Apr 2022]

AEBP2 Products (4)

mRNA Protein Name
NM_001114176.2 NP_001107648.1 zinc finger protein AEBP2 isoform b
NM_001267043.2 NP_001253972.1 zinc finger protein AEBP2 isoform c
NM_001363736.2 NP_001350665.1 zinc finger protein AEBP2 isoform d
NM_153207.5 NP_694939.2 zinc finger protein AEBP2 isoform a

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Cellular Component GO Annotation Evidence References Source
part of ESC/E(Z) complex IDA
IDA: Inferred from direct assay
20075857 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

AEBP2 Protein Structure

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (315 - 340)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 517 a.a.
Protein Preferred Names Protein Names

zinc finger protein AEBP2

  • AE(adipocyte enhancer)-binding protein 2

AEBP2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P84650 AEBP2 Antibody (YA4347) WB, ICC/IF, FC, ELISA Human
HY-P84650A AEBP2 Antibody (YA4347)(PBS only) WB, ICC/IF, FC, ELISA Human

Related Diseases

Diseases Alias
Pontocerebellar Hypoplasia, Type 13

  • PCH13

  • Pontocerebellar Hypoplasia Type 13

  • Pontocerebellar Hypoplasia 13

  • Doid:0112332

  • Hypoplasia, Pontocerebellar, Type 13
Adult Malignant Schwannoma

  • Adult Mpnst

  • Adult Neurofibrosarcoma
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
Atypical Neurofibroma
Waardenburg'S Syndrome

  • Waardenburg Syndrome

  • Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome

  • Van Der Hoeve Halbertsona Waardenburg Syndrome

  • Waardenburg Shah Syndrome

  • Waardenburg, Types I And/Or Ii

  • Mende Syndrome

  • Waardenburgs Syndrome

  • Waardenburg Syndrome, Type 4a
Hirschsprung Disease 1

  • Hirschsprung Disease

  • Aganglionic Megacolon

  • Hscr

  • Hirschsprung'S Disease

  • Congenital Megacolon

  • Congenital Intestinal Aganglionosis

  • Colonic Aganglionosis

  • Hirschsprung Disease, Susceptibility To, 1

  • Hirschsprung Disease, Protection Against

  • HSCR1

  • Mgc

  • Pelvirectal Achalasia

  • Total Intestinal Aganglionosis

  • Megacolon, Aganglionic

  • Macrocolon

  • Hscr 1

  • Hirschsprung Disease Type 1

  • Hirschsprung Disease, Type 1

  • Congenital Dilatation Of Colon

  • Aganglionosis

  • Congenital Aganglionic Megacolon

  • Aganglionosis Of Colon

  • Bowel Aganglionosis

  • Colon Aganglionosis

  • Hirschsprung Megacolon
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-174372 EZH2-IN-23 Inhibitor / Unkown
HY-RS00423 AEBP2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22380 Aebp2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28904 Aebp2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus AEBP2 VGNC VGNC:25704
Felis catus AEBP2 VGNC VGNC:59663
Canis familiaris AEBP2 VGNC VGNC:37682
Macaca mulatta AEBP2 VGNC VGNC:99879
Rattus norvegicus AEBP2 RGD RGD:1307233
Mus musculus AEBP2 MGD MGI:1338038
Others AEBP2 NCBI