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FLASH GENE

Symbol

SOX8

contributors: mct - updated : 02-10-2019

HGNC name	SRY (sex determining region Y)-box 8
HGNC id	11203

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ATR16 alpha thalassemia/ mental retardation syndrome
Location	16p13.3      Physical location : 1.031.807 - 1.036.978
Synonym name	SRY related HMG box gene 8
	transcription factor SOX-8
Synonym symbol(s)	MGC24837

DNA

TYPE	functioning gene
STRUCTURE	5.17 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

Map	pter - HBA1 HBA1 - SOX8 - cen - AXIN1 - SOX8 - TPSAB1 - CCNF - CREBBP - TSC2 TSC2 - PKD1 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014587 3 - 3049 NP_055402 - 446 - 2001 11483257

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         Endocrine pancreas         Nervous brain       highly Reproductive male system testis       Homo sapiens Urinary kidney

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Nervous glia Nervous oligodendrocyte Homo sapiens Reproductive Sertoli cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	in developing Sertoli cells; strongly expressed in the embryonic and adult brain, and in the developing cerebellum

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	DNA binding motif (HMG) domain
	a central transactivation domain
	two separate transactivation domains
	a N terminal hydrophobic region
	a C terminal hydrophilic region

HOMOLOGY

interspecies	homolog to murine Sox8
	homolog to C.elegans f14f3.1

intraspecies

homolog to SOX9

Homologene

FAMILY	SRY-related HMG box family of transcription factors
	SoxE group of high mobility group (HMG) superfamily

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	playing a role in sex determination or differentiation but the role is subordinated to that of SOX9
	novel function of SOX8, whose tightly controlled expression is critical for bone formation
	SOX8 transactivated genes have key roles in adult Sertoli-cell function and its elimination results in progressive male infertility
	critical regulator of adult Sertoli cell function and is required for both its cytoarchitectural and paracrine interactions with germ cells
	may be a critical regulator of Sertoli cell function for the maintenance of male fertility beyond the first wave of spermatogenesis
	SOX9 and SOX8 maintain integrity of the basal lamina to prevent testis cord disintegration and both factors actively suppress the ovarian program during early testis
	in addition to its crucial role in testis development, SOX9, together with SOX8 and coordinately with DMRT1, also controls adult testis maintenance
	SOX8 and SOX10 are jointly required for myelin maintenance and impact myelin gene
	SOX8 plays an essential role in the development of Microfold (M) cells to establish mucosal immune responses

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

text	central nervous system development

PATHWAY

metabolism

signaling

a component

SOX8, SOX9 and SOX10 compose the SOXE transcription factor group

INTERACTION

DNA	binding to the consensus motif 5'-[AT][AT]CAA[AT]G-3'

RNA

small molecule

protein	with some targets of SOX9 (AMH)
	interacting with SOX9 (concerted SOX9 and SOX8 function in Sertoli cells is essential for the maintenance of testicular function)
	SOX8 expression is regulated by SOX9, and both together with SOX5 and SOX6 are required as a SOX quartet for transcription of COL2A1 and a large number of other chondrogenic molecules
	ZEB1 is a transcriptional activator of SOX8 that enhanced SOX8 expression by binding to its promoter

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ATR16

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in triple-negative breast cancer (TNBC) tumoral     --over   high expression of SOX8 usually has a poor independent prognostic factor for Colorectal cancer

Susceptibility

Variant & Polymorphism

Candidate gene	for mental retardation in ATR16 patients with 16p microdeletion
Marker	early glial marker that may provide more detailed insight into the cellular makeup and consequent behaviour of medulloblastomas
Therapy target
	System Type Disorder Pubmed cancer reproductive breast ZEB1-SOX8 regulatory axis could be a promising therapeutic target for triple-negative breast cancer (TNBC)

ANIMAL & CELL MODELS

phenotypes in adult Sox8-deficient mice include mild osteopenia, late-onset male infertility, and reduced weight