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FLASH GENE

Symbol

SOX13

contributors: mct/npt - updated : 17-05-2010

HGNC name	SRY (sex determining region Y)-box 13
HGNC id	11192

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	1q32.1      Physical location : 204.042.245 - 204.096.869
Synonym name	type 1 diabetes autoantigen
	type 1 diabetes autoantigen ICA12
	islet cell antibody 12
	SRY-related HMG-box gene 13
Synonym symbol(s)	ICA12, SRY-box 13, MGC117216

DNA

TYPE	functioning gene
STRUCTURE	54.62 kb     14 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	putative long or short forms (Argentaro 2001)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005686 14 - 4088 NP_005677 - 622 - Marfil (2010)

EXPRESSION

Type

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 Cardiovascular heart       highly   vessels         Digestive esophagus       highly   mouth       highly Nervous nerve       highly Reproductive female system uterus     highly   male system testis     highly Respiratory respiratory tract trachea     highly   respiratory tract larynx     highly Skin/Tegument skin       predominantly

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...)

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	highly, in kidney, placenta
	expressed in the developing central nervous system including the neural tube and the developing brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal leucine-zipper Q domain
	a central high mobility group (HMG) box DNA-binding domain
	a neighboring glutamine stretch (D subfamily)

HOMOLOGY

interspecies	homolog to rattus Sox13 (89 pc)
	homolog to murine Sox13 (90.4 pc)
	homolog to Drosophila Sox102F (75 pc)

Homologene

FAMILY	SRY-related HMG box family of transcription factors
	SoxD transcription factor family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	acting as a modulator of LINE retroposons promoter
	involved in the regulation of embryonic development and in the determination of cell fate
	exhibits a distinct spatial and temporal expression pattern during chondrogenesis, neurogenesis, and limb development (Wang 2006)
	repress Wnt/TCF signaling by interacting with HNF1A (Marfil 2010)
	modulates T cell specification and is an autoimmune antigen (Lefebvre 2010)
	enhance transactivation by SOX9 in chondrocytes, but antagonize SOX9 and other SoxE proteins in oligodendrocytes and melanocytes, and also repress transcription through various mechanisms in several other lineages (Lefebvre 2010)
	may have a function in signaling by the developmentally important Wnt/T cell factor (TCF) pathway (Melichar 2007)

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding to the sequence 5'-AACAAT-3'

RNA

small molecule

protein

interaction between HHEX (hematopoietically expressed homeobox) and SOX13 that modulates Wnt/TCF pathway activity (this interaction may contribute to control Wnt/TCF signaling in the early embryo) (Marfil 2010)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS