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FLASH GENE

Symbol

TBX22

contributors: mct/npt - updated : 05-12-2009

HGNC name	T-box 22
HGNC id	11600

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CPX cleft palate and/or ankyloglossia
Location	Xq21.1      Physical location : 79.270.254 - 79.287.268
Synonym symbol(s)	TBOX22, TX22, CLPA, TBXX, dJ795G23.1

DNA

TYPE	functioning gene
STRUCTURE	17.01 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_001109878 9 - 2355 NP_001103348 - 520 - Laugier-Anfossi (2000) NM_001109879 9 - 2351 NP_001103349 - 400 - Laugier-Anfossi (2000) NM_016954 8 - 2248 NP_058650 - 520 - Laugier-Anfossi (2000)

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 male system testis       Skin/Tegument skin

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	tongue, mandible, palatal shelves, nasal septum

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal T box region
	a truncated N terminal DNA binding domain missing 20 AA

HOMOLOGY

interspecies

ortholog to murine Tbx22

Homologene

FAMILY

T box family

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	probable transcriptional repressor involved in development processes (palatogenesis)
	may be acting in a pathway directing the transformation of medial edge epithelium into mesenchyme during formation of a continuous palate

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding through T-box

RNA

small molecule

protein

target for the small ubiquitin-like modifier SUMO1 (required for TBX22 repressor activity)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CPX

Susceptibility

to cleft palate with ankyloglossia

Variant & Polymorphism SNP	two SNPs associate significantly with cleft palate, ands pecific promoter haplotypes generated from these variants show reduced transcriptional activity in a promoter assay (Pauws 2009)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS