AEBP2 - AE binding protein 2 Gene

Homo sapiens

Gene ID: 121536 | Gene type: protein coding

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

AEBP2 Protein Structure

zf-H2C2_2

0
100
200
300
400
517 a.a.

Protein Preferred Names

Protein Names

zinc finger protein AEBP2

AE(adipocyte enhancer)-binding protein 2

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00423	AEBP2 Human Pre-designed siRNA Set A		/	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

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