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FLASH GENE

Symbol

SOX5

contributors: shn/pgu - updated : 20-03-2019

HGNC name	SRY (sex determining region Y)-box 5
HGNC id	11201

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LAMSHF Lamb-Shaffer syndrome
Location	12p12.1      Physical location : 23.685.231 - 24.715.380
Synonym name	transcription factor SOX-5
Synonym symbol(s)	L-SOX5, MGC35153, L-SOX5B, L-SOX5F, LAMSHF

DNA

TYPE	functioning gene
STRUCTURE	1033.20 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

Map	pter - D12S1688 - D12S1606 - SOX5 - D12S1617 - D12S1596 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_152989 (transcript variant 2) 18 splicing 4563 NP_694534 - 750 - 2017 28585545 NM_006940 (transcript variant 1) 15 splicing 4333 NP_008871 - 763 - 2017 28585545 NM_178010 (transcript variant 3) 7 splicing 5926 NP_821078 48 377 - 2017 28137312 S-SOX5 S-SOX5 directly interacts with the SPAG16L promoter may regulate formation of motile cilia/flagella through globally mediating expression of genes encoding axonemal proteins NM_001261414 17 - 7251 NP_001248343 - 642 - 2017 28585545 NM_001330785 15 - 7021 NP_001317714 - 728 - 2017 28585545 NM_001261415 15 - 7150 NP_001248344 - 753 - 2017 28585545

EXPRESSION

Type

widely

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         Homo sapiens Nervous brain forebrain       Homo sapiens   spinal cord       highly Reproductive male system testis     highly Respiratory lung         Homo sapiens

cell lineage	mainly expressed in neural progenitors
cell lines
fluid/secretion

at STAGE

physiological period

fetal

Text	brain
	coexpression of SHOX, SOX5, SOX6 and SOX9 in the fetal growth plate

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a high mobility group (HMG) domain
	a leucine zipper
	a glutamine-rich domain
	a transactivation domain in the carboxyl terminus (transcription activation)

HOMOLOGY

interspecies	ortholog to Sox5, Mus musculus
	ortholog to SOX5, Pan troglodytes
	ortholog to sox5, Danio rerio
	ortholog to Sox5, Rattus norvegicus
	ortholog to Drosophila Sox102F

Homologene

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

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	involved in the regulation of embryonic development and in the determination of the cell fate
	involved in the formation of the cephalic neural crest
	a long form, expressed in chondrogenesis coactivator in association with SOX6 and SOX9 of the chondrocyte-specific enhancer of COL2A1
	modulator of LINE retroposons promoter activity
	sex-determining region Y
	transcription factor that has been shown to regulate chondrogenesis, oligodendrogenesis, and the sequential generation of cortical neurons
	postmitotically controls the laminar positioning, molecular differentiation, and layer-specific pattern of subcortical axonal projections of subplate and deep-layer neurons
	essential for endochondral skeleton formation
	regulates several stages of oligodendrocyte development in spinal cord
	controls the sequential generation of distinct pallium-derived excitatory corticofugal projection neuron populations, regulating their subtype diversity
	a role in roles in the generation of neuronal diversity during neocortical development
	redundantly enhance chondrogenesis, but retard gliogenesis, and hinders melanogenesis, promotes neural crest generation, and controls the pace of neurogenesis
	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
	controls the timing of cell cycle exit by neural progenitors at the G1-S transition by counteracting the mitotic effect of the WNT-CTNNB1 pathway
	is an important brake on WNT-CTNNB1 mitogenic activity during the progression of neurogenesis
	negatively regulates cell cycle progression and it is necessary and sufficient to promote cell cycle arrest at the G1-S transition
	transcription factor involved in the regulation of nervous system development and chondrogenesis
	controls dorsal progenitor and interneuron specification in the spinal cord
	SOX9 and SOX5/SOX6 thus cooperate genome-wide, primarily through super-enhancers (SEs), to implement the growth plate chondrocyte differentiation program
	transcription factors SOX5 and SOX6 exert direct and indirect influences on oligodendroglial migration in spinal cord and forebrain
	islets in T2D display changes reminiscent of dedifferentiation and SOX5 is a regulator of beta-cell phenotype and function
	SOX5 is a critical modulator of neurite outgrowth through the selective activation of DPYSL5 expression
	SOX9 (SOXE group) is essential for chondrocyte fate maintenance and differentiation, and works in cooperation with SOX5 and SOX6 (SOXD group) and other types of transcription factors

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

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

RNA

small molecule

protein	SRY (sex determining region Y)-box 6, SOX6
	SHOX cooperates with SOX5/SOX6 and SOX9 in the activation of the upstream ACAN enhancer
	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
	SOX5 transactivates TWIST1 expression and plays an important role in the regulation of breast cancer progression
	SOX5 and MAF cooperatively induce Th17 cell differentiation via the induction of RORC as downstream targets of STAT3
	transcription factors SOX5 and SOX9 caused a significant increase in transactivation of the CATSPER1 promoter in heterologous systems, and both transcription factors interact with the CATSPER1 promoter
	SOX5 exerts its function by restricting dorsally WNT signaling activity via direct transcriptional induction of the negative WNT pathway regulator AXIN2
	SOX5 has a strong inhibitory effect on MITF expression and seems to have a decisive clinical impact on melanoma during tumor progression
	SOX5 increases DPYSL5 promoter activity, but not if the putative SOX5 binding site is mutated

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

LAMSHF

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   amplification     coamplified with DADR and EKI1 in testicular seminoma tumoral     --over   in breast cancer tissues compared with adjacent healthy tissues, and overexpression of SOX5 was associated with a reduced overall survival rate in patients with breast cancer

Susceptibility

Variant & Polymorphism

Candidate gene	novel candidate gene for late-onset familial Alzheimer disease (LOAD with an important role in neuronal function
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive breast candidate therapeutic target in breast cancer progression cancer digestive liver may be a potential therapeutic target for HCC metastasis

ANIMAL & CELL MODELS

	Sox6 single null mice are born with mild skeletal abnormalities
	Sox5-Sox6 double null fetuses die with a severe, generalized chondrodysplasia
	silencing of the Drosophila ortholog of Sox5 leads to abnormal neuronal development and behavioral impairment