Gene

zbtb42

ID

ZDB-GENE-130730-2

Name

zinc finger and BTB domain containing 42

Symbol

zbtb42 Nomenclature History

Previous Names

si:ch211-193k8.4

Type

protein_coding_gene

Location

Chr: 17 Mapping Details/Browsers

Description

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. Used to study distal arthrogryposis. Human ortholog(s) of this gene implicated in lethal congenital contracture syndrome. Orthologous to human ZBTB42 (zinc finger and BTB domain containing 42).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 5 figures from Patel et al., 2014
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Allele	Type	Localization	Consequence	Mutagen	Supplier
sa36284	Allele with one point mutation	Unknown	Premature Stop	ENU	Zebrafish International Resource Center (ZIRC) (order this) European Zebrafish Resource Center (EZRC) (order this)

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Sequence Targeting Reagents

Targeting Reagent	Created Alleles	Citations
MO1-zbtb42	N/A	Patel et al., 2014
MO2-zbtb42	N/A	Patel et al., 2014

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Human Disease

Associated With zbtb42 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		?Lethal congenital contracture syndrome 6	616248

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Associated With zbtb42 Via Experimental Models

Human Disease	Fish	Conditions	Citations
distal arthrogryposis	WT + MO1-zbtb42	standard conditions	Patel et al., 2014

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Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000210	BTB/POZ domain
Domain	IPR013087	Zinc finger C2H2-type
Homologous_superfamily	IPR011333	SKP1/BTB/POZ domain superfamily
Homologous_superfamily	IPR036236	Zinc finger C2H2 superfamily

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Domain Details Per Protein

Protein	Additional Resources	Length	BTB/POZ domain	SKP1/BTB/POZ domain superfamily	Zinc finger C2H2 superfamily	Zinc finger C2H2-type
UniProtKB:A0A0R4IND3	InterPro	463
UniProtKB:A0A8M2B4Y4	InterPro	419

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Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Genome Build: GRCz11Chromosome: 17

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	zbtb42-201 (1) Ensembl	Ensembl		1,656 nt	Select Tool ZFIN BLAST
mRNA	zbtb42-202 (1) Ensembl	Ensembl		1,392 nt	Select Tool ZFIN BLAST

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Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

No data available

Marker Relationships

Relationship	Marker Type	Marker	Accession Numbers	Citations
Contained in	BAC	CH211-193K8	CR855301

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Sequences

Type	Accession #	Length (nt/aa)	Analysis
RNA	RefSeq:XM_005158562 (1)		Select Tool ZFIN BLAST NCBI BLAST MegaBLAST Ensembl UCSC BLAT
Genomic	GenBank:CR855301 (1)	149563 nt	Select Tool MegaBLAST Ensembl
Polypeptide	UniProtKB:A0A0R4IND3 (1)	463 aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Species	Symbol	Chromosome	Accession #	Evidence
Human	ZBTB42	14	Ensembl:ENSG00000179627 Gene:100128927 HGNC:32550 OMIM:613915	Amino acid sequence comparison (2) Conserved genome location (synteny) (1)
Mouse	Zbtb42	12	Ensembl:ENSMUSG00000037638 Gene:382639 MGI:3644133	Conserved genome location (synteny) (1) Amino acid sequence comparison (1)

Citations

Include unpublished citations

Patel, N., Smith, L.L., Faqeih, E., Mohamed, J., Gupta, V.A., Alkuraya, F.S. (2014) ZBTB42 Mutation Defines A Novel Lethal Congenital Contracture Syndrome (LCCS6). Human molecular genetics. 23(24):6584-93

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