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FLASH GENE

Symbol

ZBTB42

contributors: mct - updated : 29-11-2016

HGNC name	zinc finger and BTB domain containing 42
HGNC id	32550

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LCCS6 lethal congenital contracture syndrome 6
Location	14q32.33      Physical location : 105.266.932 - 105.271.046
Synonym symbol(s)	FLJ43013, MGC189728, ZNF925

DNA

TYPE	functioning gene
STRUCTURE	4.12 kb     2 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001137601 2 - 3651 NP_001131073 47 422 - 2011 21193930

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive female system ovary     highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	conserved N-terminal BTB domain, usually present as a single copy and implicated in protein–protein interactions
	C-terminal four zinc finger domains

HOMOLOGY

interspecies

homolog to zebrafish zbtb42

Homologene

FAMILY

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm
text	distributed in the nucleoplasm, with particular enrichment in nuclei underlying the neuromuscular junctions
	highly specific localization of ZBTB42 to the nucleoplasm of myofibrils, especially in nuclei at the NMJ

basic FUNCTION	may be involved in metabolic syndrome phenotypes
	likely essential for normal muscle development
	may play a role as a transcription factor that regulates the expression of important muscle developmental genes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

LCCS6

Susceptibility

to insulin resistance and development of the metabolic syndrome

Variant & Polymorphism SNP	SNP that forms part of a small haplotype associated with increased risk of insulin resistance and the development of the metabolic syndrome

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

skeletal muscle of Zbtb42-deficient zebrafish lacked the clearly defined H-zone that is present in wild-type muscles