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FLASH GENE

Symbol

FOXI1

contributors: - updated : 23-05-2007

HGNC name	forkhead box I1
HGNC id	3815

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	like-sequence
STRUCTURE	3.00 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 2 - - 2011 - 283 - Rodriguez-Antona variant 1 - - 2296 - 378 - Rodriguez-Antona

EXPRESSION

Type	restricted

constitutive of

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 breast mammary gland     Urinary kidney

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	kidney,iotic vesicle

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a forkhead (FH, winged helix) domain
	with two loops-wings on the C-terminal side of helix-turn-helix homeo domain

HOMOLOGY

interspecies	homolog to Drosophila homeo forkhead DNA binding domain
	ortholog to murine Fkhl10

Homologene

FAMILY

HNF-3 forkhead family of transcriptional activator

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION

embryonic transcriptional regulator necessary for the development of both cochlea and vestibulum

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

text

inner ear

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

transcriptional activator of SLC26A4

cell & other

REGULATION

Other

maybe associated with the common cavity phenotype

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in Pendred syndrome constitutional germinal mutation       in hearing loss associated with enlarged vestibular aqueduct (DFNB4)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mice with a targetted disruption of Frhl10 have a gross structural malformation of the cochlea and vestibulum replaced by a single irregular cavity