Zbtb18 MGI Mouse Gene Detail - MGI:1353609 - zinc finger and BTB domain containing 18

Symbol

Zbtb18
Name

zinc finger and BTB domain containing 18
Synonyms

RP58, Zfp238

Feature Type

protein coding gene
IDs

MGI:1353609
NCBI Gene: 30928
Alliance

gene page
Transcription Start Sites

21 TSS

Sequence Map

Chr1:177269917-177278330 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 82.72 cM, cytoband H3
Mapping Data

1 experiment

SNPs within 2kb

85 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1353609	protein coding gene	Chr1:177269892-177278330 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016848	protein coding gene	Chr1:183619311-183628098 (+)
A/J	MGP_AJ_G0016827	protein coding gene	Chr1:176218219-176226022 (+)
AKR/J	MGP_AKRJ_G0016793	protein coding gene	Chr1:181490567-181502406 (+)
BALB/cJ	MGP_BALBcJ_G0016784	protein coding gene	Chr1:176752186-176760095 (+)
C3H/HeJ	MGP_C3HHeJ_G0016610	protein coding gene	Chr1:182093307-182103815 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017249	protein coding gene	Chr1:189650408-189657498 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014955	protein coding gene	Chr1:167497319-167504918 (+)
CAST/EiJ	MGP_CASTEiJ_G0016191	protein coding gene	Chr1:181483381-181487958 (+)
CBA/J	MGP_CBAJ_G0016583	protein coding gene	Chr1:196554082-196558654 (+)
DBA/2J	MGP_DBA2J_G0016689	protein coding gene	Chr1:175079341-175087321 (+)
FVB/NJ	MGP_FVBNJ_G0016686	protein coding gene	Chr1:173171844-173176414 (+)
LP/J	MGP_LPJ_G0016764	protein coding gene	Chr1:184809455-184816975 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016717	protein coding gene	Chr1:203803403-203811980 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017285	protein coding gene	Chr1:181232158-181242929 (+)
PWK/PhJ	MGP_PWKPhJ_G0015978	protein coding gene	Chr1:174170057-174177997 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015755	protein coding gene	Chr1:180333800-180341042 (+)
WSB/EiJ	MGP_WSBEiJ_G0016253	protein coding gene	Chr1:181442497-181447070 (+)

Human Ortholog

ZBTB18, zinc finger and BTB domain containing 18

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ZBTB18, zinc finger and BTB domain containing 18
Synonyms

C1DELq42q44, C1DELq43q44, C2H2-171, DEL1Q42Q44, DEL1Q43Q44, MRD22, RP58, TAZ-1, ZNF238
Links

HGNC:13030

NCBI Gene ID: 10472

neXtProt AC: NX_Q99592

UniProt: Q99592
Chr Location

1q44; chr1:244048491-244057476 (+) GRCh38

MGI Vertebrate Homology

Zbtb18 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ZBTB18
Gene Tree

Zbtb18

Diseases

1 with Zbtb18 mouse models; 1 with human ZBTB18 associations

Human Disease

Mouse Models

autosomal dominant intellectual developmental disorder

IDs

View 1 model

autosomal dominant intellectual developmental disorder 22

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

30 phenotypes from 3 alleles in 3 genetic backgrounds
12 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

7
Chemically induced (other)

2
Endonuclease-mediated

1
Targeted

4
Genomic Mutations

2 involving Zbtb18
Incidental Mutations

APF
Find Mice (IMSR)

26 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit neonatal lethality, cortical and hippocampal hypoplasia and laminar disorganization, and abnormal neuron apoptosis and cell cycling.

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All GO Annotations

21
GO References

7

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1052
Tissues

260
cDNA Data

112
Literature Summary

24

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase zbtb18

ZFIN zbtb18

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All Sequences

105
RefSeq

38
UniProt

11
CCDS

CCDS15553.1, CCDS35800.1, CCDS87929.1

Ensembl

ENSMUSG00000063659 (Evidence)
NCBI Gene

30928

			Length	Strain/Species	Flank
genomic	ENSMUSG00000063659	Ensembl Gene Model \| MGI Sequence Detail	8414	C57BL/6J	± kb
transcript	ENSMUST00000094276	Ensembl \| MGI Sequence Detail	4204	Not Applicable
polypeptide	ENSMUSP00000091831	Ensembl \| MGI Sequence Detail	531	Not Applicable

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UniProt

11 Sequences
Protein Ontology

PR:000017773 zinc finger and BTB domain-containing protein 18

(term hierarchy)
InterPro Domains

IPR000210 BTB/POZ domain

IPR011333 SKP1/BTB/POZ domain superfamily

IPR050457 Zinc finger and BTB domain-containing

IPR036236 Zinc finger C2H2 superfamily

IPR013087 Zinc finger C2H2-type
GlyGen

Q9WUK6 2 sites, 1 N-linked glycan (2 sites)

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All nucleic 117

cDNA 113

Primer pair 2

Other 2

Microarray probesets 3

Summaries

All 52

Developmental Gene Expression 24

Diseases 1

Gene Ontology 7

Phenotypes 12
Earliest

J:60308 Meng G, et al., Structural analysis of the gene encoding RP58, a sequence-specific transrepressor associated with heterochromatin. Gene. 2000 Jan 25;242(1-2):59-64
Latest

J:334107 Jin Y, et al., Loss of BAF (mSWI/SNF) chromatin-remodeling ATPase Brg1 causes multiple malformations of cortical development in mice. Hum Mol Genet. 2022 Oct 10;31(20):3504-3520

TSS for Zbtb18:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr10343	Chr1:177269846-177269944 (+)	-22 bp
Tssr10344	Chr1:177269949-177269960 (+)	38 bp
Tssr10345	Chr1:177269978-177269992 (+)	68 bp
Tssr10346	Chr1:177270060-177270089 (+)	158 bp
Tssr10347	Chr1:177270101-177270113 (+)	190 bp
Tssr10348	Chr1:177272199-177272211 (+)	2,288 bp
Tssr10349	Chr1:177272219-177272235 (+)	2,310 bp
Tssr10350	Chr1:177272255-177272266 (+)	2,344 bp
Tssr10351	Chr1:177272297-177272308 (+)	2,386 bp
Tssr10352	Chr1:177273226-177273238 (+)	3,315 bp
Tssr10353	Chr1:177274681-177274701 (+)	4,774 bp
Tssr10354	Chr1:177274713-177274722 (+)	4,801 bp
Tssr312	Chr1:177274725-177274744 (+)	4,818 bp
Tssr10355	Chr1:177274755-177274766 (+)	4,844 bp
Tssr10356	Chr1:177274843-177274857 (+)	4,933 bp
Tssr10357	Chr1:177274919-177274941 (+)	5,013 bp
Tssr10358	Chr1:177275013-177275024 (+)	5,102 bp
Tssr10359	Chr1:177275030-177275039 (+)	5,118 bp
Tssr313	Chr1:177275416-177275428 (+)	5,505 bp
Tssr10360	Chr1:177275765-177275776 (+)	5,854 bp
Tssr10361	Chr1:177275809-177275817 (+)	5,896 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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