ZBTB20 - zinc finger and BTB domain containing 20 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 26137

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 References 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

BTB: BTB/POZ domain (94 - 196)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (592 - 615)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (634 - 656)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (662 - 684)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (715 - 737)

  • 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

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 Set / 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
Others ZBTB20 NCBI