2. Gene
  3. ZBTB18 - zinc finger and BTB domain containing 18 Gene

ZBTB18 - zinc finger and BTB domain containing 18 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 10472 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS15966 ZBTB18 Human Pre-designed siRNA Set A Pre-designed Sets / 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