ZBTB18 - zinc finger and BTB domain containing 18 Gene

Also Known as RP58; MRD22; TAZ-1; ZNF238; C2H2-171

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10472

About ZBTB18

Cytogenetic location: 1q44 Genomic coordinates (GRCh38): 1:244,048,491-244,057,476 (from NCBI)

This gene has 7 transcripts (splice variants), 200 orthologues, 36 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 20.3), testis (RPKM 12.1) and 25 other tissues.

Summary

This gene encodes a C2H2-type Zinc Finger Protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruits components of chromatin to target genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

ZBTB18 Products (3)

mRNA Protein Name
NM_001278196.2 NP_001265125.1 zinc finger and BTB domain-containing protein 18 isoform 2
NM_006352.4 NP_006343.2 zinc finger and BTB domain-containing protein 18 isoform 2
NM_205768.3 NP_991331.1 zinc finger and BTB domain-containing protein 18 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
9756912 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
24722188 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
9756912 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
9756912 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
25796446 GOA
Cellular Component GO Annotation Evidence References Source
located in heterochromatin IDA
IDA: Inferred from direct assay
9756912 GOA
located in nucleus IDA
IDA: Inferred from direct assay
25796446 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

ZBTB18 Protein Structure

BTB

BTB: BTB/POZ domain (23 - 129)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (379 - 401)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (434 - 456)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (461 - 485)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 531 a.a.
Protein Preferred Names Protein Names

zinc finger and BTB domain-containing protein 18

  • 58 kDa repressor protein

ZBTB18 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ZBTB18 Q99592 CTBP1 Homo sapiens Q13363-2
Anti Bait CoIP
36414381
Intra
ZBTB18 Q99592 CTBP1 Homo sapiens Q13363-2
Anti Tag CoIP
35800763
Intra
ZBTB18 Q99592 CTBP2 Homo sapiens P56545-3
Validated Y2H
25416956
Intra
ZBTB18 Q99592 CTBP2 Homo sapiens P56545-3
Y2H Prey Pooling
25416956
Intra
ZBTB18 Q99592 CTBP2 Homo sapiens P56545-3
Y2H Array
25416956
Intra
ZBTB18 Q99592 CTBP2 Homo sapiens P56545
Anti Tag CoIP
33961781
Intra
ZBTB18 Q99592 CTBP2 Homo sapiens P56545
Anti Bait CoIP
36414381
Intra
ZBTB18 Q99592 CTBP2 Homo sapiens P56545
Anti Tag CoIP
36414381
Intra
ZBTB18 Q99592 CTBP2 Homo sapiens P56545
Anti Bait CoIP
35800763
Intra
ZBTB18 Q99592 CTBP2 Homo sapiens P56545
Anti Tag CoIP
35800763
Intra
ZBTB18 Q99592 CTBP1 Homo sapiens Q13363
Anti Bait CoIP
36414381
Intra
ZBTB18 Q99592 CTBP1 Homo sapiens Q13363
Anti Tag CoIP
36414381
Intra
ZBTB18 Q99592 CTBP1 Homo sapiens Q13363
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Dominant 22

  • MRD22

  • Mental Retardation, Autosomal Dominant 22

  • Autosomal Dominant Non-Syndromic Intellectual Disability 22

  • Distal Monosomy 1q

  • Autosomal Dominant Intellectual Developmental Disorder 22

  • Autosomal Dominant Mental Retardation 22

  • Distal Deletion 1q

  • Monosomy 1qter

  • Telomeric Deletion 1q

  • Mental Retardation, Autosomal Dominant, Type 22
Retinitis Pigmentosa 58

  • RP58

  • Retinitis Pigmentosa, Type 58
Developmental And Epileptic Encephalopathy 54

  • DEE54

  • Epileptic Encephalopathy, Early Infantile, 54

  • Eiee54

  • Developmental And Epileptic Encephalopathy, 54

  • Early Infantile Epileptic Encephalopathy 54

  • Encephalopathy, Epileptic, Early Infantile, Type 54
Transient Neonatal Thrombocytopenia
Transient Neonatal Neutropenia
Chromosome 3q29 Duplication Syndrome

  • Chromosome 3q29 Microduplication Syndrome

  • Trisomy 3q29

  • Microduplication 3q29 Syndrome

  • 3q29 Microduplication

  • 3q29 Microduplication Syndrome

  • 3q29 Interstitial Microduplication
Barth Syndrome

  • 3-Methylglutaconic Aciduria Type 2

  • BTHS

  • Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria

  • Mga Type Ii

  • Mga2

  • Mgca2

  • Mga Type 2

  • 3-Methylglutaconic Aciduria Type Ii

  • 3-Methylglutaconic Aciduria, Type Ii

  • Mga, Type Ii

  • 3-Methylglutaconicaciduria Type 2

  • 3-Methylglutaconicaciduria Type Ii

  • Taz Defect

  • 3 Methylglutaconic Aciduria, Type Ii

  • Dnajc19 Defect

  • Cardioskeletal Myopathy-Neutropenia Syndrome

  • X-Linked Cardioskeletal Myopathy And Neutropenia

  • 3-Alpha-Methylglutaconic Aciduria Type 2

  • Agm2

  • Cardioskeletal Myopathy-Neutropenia

  • Invm

  • Left Ventricular Non-Compaction Isolated X-Linked

  • Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked

  • Agammaglobulinemia 2, Autosomal Recessive
Developmental And Epileptic Encephalopathy 27

  • DEE27

  • Epileptic Encephalopathy, Early Infantile, 27

  • Eiee27

  • Developmental And Epileptic Encephalopathy, 27

  • Early Infantile Epileptic Encephalopathy 27

  • Encephalopathy, Developmental And Epileptic, Type 27
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
Congenital Ptosis

  • Congenital Blepharoptosis

  • Congenital Eyelid Ptosis
Congenital Nervous System Abnormality

  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder
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-RS15966 ZBTB18 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus ZBTB18 VGNC VGNC:107964
Mus musculus ZBTB18 MGD MGI:1353609
Bos taurus ZBTB18 VGNC VGNC:37063
Canis familiaris ZBTB18 VGNC VGNC:53842
Rattus norvegicus ZBTB18 RGD RGD:621548
Macaca mulatta ZBTB18 VGNC VGNC:78881
Others ZBTB18 NCBI