ZBTB20 - zinc finger and BTB domain containing 20 Gene

Homo sapiens

Also known as HOF; DPZF; PRIMS; ODA-8S; ZNF288

Gene ID: 26137 | Gene type: protein coding

About ZBTB20

Cytogenetic location: 3q13.31 Genomic coordinates (GRCh38): 3:114,314,500-115,147,288 (from NCBI)

This gene has 24 transcripts (splice variants), 202 orthologues, 36 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 4.0), ovary (RPKM 3.7) and 25 other tissues.

Summary

This gene, which was initially designated as dendritic cell-derived BTB/POZ zinc finger (DPZF), belongs to a family of transcription factors with an N-terminal BTB/POZ domain and a C-terminal DNA-bindng zinc finger domain. The BTB/POZ domain is a hydrophobic region of approximately 120 aa which mediates association with Other BTB/POZ domain-containing proteins. This gene acts as a transcriptional repressor and plays a role in many processes including neurogenesis, glucose homeostasis, and postnatal growth. Mutations in this gene have been associated with Primrose syndrome as well as the 3q13.31 microdeletion syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]

ZBTB20 Products(17)

mRNA	Protein	Name
NM_001164342.2	NP_001157814.1	zinc finger and BTB domain-containing protein 20 isoform 1
NM_001164343.2	NP_001157815.1	zinc finger and BTB domain-containing protein 20 isoform 2
NM_001164344.4	NP_001157816.1	zinc finger and BTB domain-containing protein 20 isoform 2
NM_001164345.4	NP_001157817.1	zinc finger and BTB domain-containing protein 20 isoform 2
NM_001164346.2	NP_001157818.1	zinc finger and BTB domain-containing protein 20 isoform 2
NM_001164347.2	NP_001157819.1	zinc finger and BTB domain-containing protein 20 isoform 2
NM_001348800.3	NP_001335729.1	zinc finger and BTB domain-containing protein 20 isoform 1
NM_001348801.3	NP_001335730.1	zinc finger and BTB domain-containing protein 20 isoform 2
NM_001348802.3	NP_001335731.1	zinc finger and BTB domain-containing protein 20 isoform 2
NM_001348803.3	NP_001335732.1	zinc finger and BTB domain-containing protein 20 isoform 1
NM_001348804.3	NP_001335733.1	zinc finger and BTB domain-containing protein 20 isoform 2
NM_001348805.3	NP_001335734.1	zinc finger and BTB domain-containing protein 20 isoform 2
NM_001393393.1	NP_001380322.1	zinc finger and BTB domain-containing protein 20 isoform 1
NM_001393394.1	NP_001380323.1	zinc finger and BTB domain-containing protein 20 isoform 1
NM_001393395.1	NP_001380324.1	zinc finger and BTB domain-containing protein 20 isoform 2
NM_001393396.1	NP_001380325.1	zinc finger and BTB domain-containing protein 20 isoform 2
NM_015642.7	NP_056457.3	zinc finger and BTB domain-containing protein 20 isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	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

ZBTB20 Protein Structure

BTB

zf-H2C2_2

zf-C2H2

zf-C2H2_4

0
200
400
600
741 a.a.

Protein Preferred Names

Protein Names

zinc finger and BTB domain-containing protein 20

BTB/POZ zinc finger protein DPZF

Related Diseases

Diseases

Alias

Primrose Syndrome

Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Ossified Ear Cartilages With Mental Deficiency, Muscle Wasting, And Bony Changes
PRIMS

Hypereosinophilic Syndrome

Eosinophilia	HES
Eosinophilic Leukocytosis	Hypereosinophilic Syndrome, Idiopathic
Idiopathic Hypereosinophilic Syndrome	Disseminated Eosinophilic Collagen Disease
Eosinophilic Disorder	Disorders With Increased Eosinophil Counts

Myeloproliferative Neoplasm

Myeloproliferative Disorder	Chronic Myeloproliferative Disease
Myeloproliferative Neoplasms	Chronic Myeloproliferative Disorder
Cmpd	Cmpd, U
Chronic Myeloproliferative Disorders	Mpd
Mpn	Myeloproliferative Disorders
Myeloproliferative Disease	Campomelic Dysplasia

Congenital Hypothyroidism

Cretinism	Neonatal Hypothyroidism
Ch	Cht
Congenital Myxedema	Myxedema, Congenital
Endemic Cretinism	Congenital Iodine-Deficiency Syndrome
Fetal Iodine Deficiency Syndrome	Congenital Iodine-Deficiency Hypothyroidism Nos

Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

BBSOAS

Optic Atrophy-Intellectual Disability Syndrome

Cardia Cancer

Ca Cardia - Stomach

Malignant Neoplasm Of Cardia Of Stomach

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-RS15968	ZBTB20 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ZBTB20	RGD	RGD:1560387
Canis familiaris	ZBTB20	VGNC	VGNC:48526
Mus musculus	ZBTB20	MGD	MGI:1929213
Bos taurus	ZBTB20	VGNC	VGNC:37065
Felis catus	ZBTB20	VGNC	VGNC:67164

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