ZFIN Gene: sox9a

ZFIN ID: ZDB-GENE-001103-1

ZFIN ID: ZDB-GENE-001103-1

Gene Name:

SRY-box transcription factor 9a

Gene Symbol:

sox9a Nomenclature History

Previous Names:

jef (1), jellyfish, wu:fj17b12, zgc:111921

Gene Type:

protein_coding_gene

Location:

Chr: 12 Mapping Details/Browsers

Description:

Exhibits chromatin binding activity. Involved in cartilage morphogenesis; embryonic morphogenesis; and glial cell differentiation. Localizes to cytoplasm. Is expressed in several structures, including brain; ectoderm; head; reproductive system; and skeletal system. Human ortholog(s) of this gene implicated in 46,XX sex reversal 2; 46,XY sex reversal 10; and campomelic dysplasia. Orthologous to human SOX9 (SRY-box transcription factor 9).

Genome Resources:

Alliance (1), Gene:60641 (1), Ensembl(GRCz11):ENSDARG00000003293 (2)

GENE EXPRESSION
All Expression Data:	166 figures from 127 publications
Wild-type Stages, Structures:	Gastrula:Bud (10.0h-10.33h) to Adult (90d-730d, breeding adult)
	anal fin anal fin lepidotrichium anal fin pterygiophore anal fin radial brain caudal fin lepidotrichium ceratobranchial 1 cartilage ceratobranchial 2 cartilage ceratobranchial 3 cartilage ceratobranchial 4 cartilage ceratobranchial 5 cartilage ceratobranchial bone ceratobranchial cartilage ceratohyal cartilage chondroblast ceratohyal cartilage chondrocyte ceratohyal cartilage chondroblast chondrocranium chondrocranium cartilage chondrocyte cranial cartilage chondrocyte cranial cartilage cranial neural crest cell dorsal fin dorsal fin pterygiophore ectoderm ectomesenchyme ethmoid cartilage eye female organism ovary forebrain gall bladder gill gonad gonad primordium head chondroblast head heart hemal spine hindbrain hindbrain neural keel hindbrain neural plate hyosymplectic cartilage hypobranchial cartilage hypural hypural 1 hypural 2 hypural 3 hypural 4 hypural 5 immature gonad integument kidney male organism testis mandibular arch skeleton chondrocyte mandibular arch skeleton maxilla cranial neural crest cell maxilla Meckel's cartilage chondrocyte Meckel's cartilage mesenchyme midbrain midbrain hindbrain boundary midbrain neural keel muscle musculature system neural crest neural crest cell neurocranial trabecula chondroblast neurocranial trabecula neurocranium posterior region neurocranium neuroectoderm neural crest neurogenic placode cytoplasm neurogenic placode nucleus notochord olfactory region cranial neural crest cell osteoprogenitor cell otic placode anatomical region otic placode otic vesicle ovary palatoquadrate arch palatoquadrate cartilage chondrocyte palatoquadrate cartilage parhypural pectoral fin pectoral fin bud chondrocyte pectoral fin bud pectoral fin cartilage chondroblast pectoral fin cartilage pectoral fin skeleton pectoral girdle pharyngeal arch chondrocyte pharyngeal arch cranial neural crest pharyngeal arch cranial neural crest cell pharyngeal arch neural crest pharyngeal arch pharyngeal arch 1 chondroblast pharyngeal arch 1 chondrocyte pharyngeal arch 1 cranial neural crest cell pharyngeal arch 1 mesenchyme pharyngeal arch 1 pharyngeal arch 2 chondroblast pharyngeal arch 2 chondrocyte pharyngeal arch 2 cranial neural crest cell pharyngeal arch 2 mesenchyme pharyngeal arch 2 pharyngeal arch 2 skeleton pharyngeal arch 3 pharyngeal arch 3 skeleton pharyngeal arch 3-7 chondroblast pharyngeal arch 3-7 chondrocyte pharyngeal arch 3-7 pharyngeal arch 3-7 skeleton pharyngeal arch 4 pharyngeal arch 4 skeleton pharyngeal arch 5 pharyngeal arch 5 skeleton pharyngeal arch 6 skeleton pharyngeal arch cartilage chondrocyte pharyngeal arch cartilage neural crest pharyngeal arch cartilage pharyngeal pouch regenerating fin reproductive system retinal inner nuclear layer scapulocoracoid Sertoli cell somite splanchnocranium spleen statoacoustic (VIII) ganglion telencephalon testis Sertoli cell testis trabecula cranii trunk unspecified ventral hyoid arch ventral mandibular arch whole organism
High Throughput Expression:	GEO (1) Expression Atlas (1)

MUTATIONS AND SEQUENCE TARGETING REAGENTS

Allele	Type	Localization	Consequence	Mutagen	Suppliers
hi1134Tg	Transgenic Insertion	Acceptor Splice Site of Exon 2	Unknown	DNA	Zebrafish International Resource Center (ZIRC) (order this)
sox9a_unspecified	Unspecified	Unknown	Unknown
tw37	Point Mutation	Unknown	Unknown	ENU	European Zebrafish Resource Center (EZRC) (order this)
zc81Tg	Transgenic Insertion	Unknown	Unknown	DNA

Sequence Targeting Reagents

Targeting Reagent	Created Alleles	Publications
MO1-sox9a	N/A	2
MO2-sox9a	N/A	6
MO3-sox9a	N/A	4
MO4-sox9a	N/A	1
MO5-sox9a	N/A	1
MO6-sox9a	N/A	1
MO7-sox9a	N/A	2

PHENOTYPE

Data:

18 figures from 11 publications

Observed in:

DISEASE ASSOCIATED WITH sox9a HUMAN ORTHOLOG

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
campomelic dysplasia	Alliance	Acampomelic campomelic dysplasia	114290
		Campomelic dysplasia	114290
		Campomelic dysplasia with autosomal sex reversal	114290

DISEASE ASSOCIATED WITH sox9a VIA EXPERIMENTAL MODELS No data available

GENE ONTOLOGY

Ontology	GO Term
Biological Process	inner ear development (more)
Cellular Component	cytoplasm (more)
Molecular Function	chromatin binding (more)

GO Terms (all 25)

PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available

TRANSCRIPTS
Type	Name	Length (nt)	Analysis
mRNA	sox9a-201 (1)	1784	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Browsers: UCSC, NCBI, Ensembl, ZFIN

INTERACTIONS AND PATHWAYS

ANTIBODIES

Name	Type	Isotype	Host Organism	Assay	Source	Publications
Ab2-sox9	monoclonal	IgG2a , k	Mouse	IHC	Abcam plc	4

PLASMIDS No data available

CONSTRUCTS WITH SEQUENCES FROM sox9a

Construct	Regulatory Regions	Coding Sequences	Species	Tg Lines	Publications
Tg(-2.4shha-E1:GFP)	shha, sox9a	GFP	Danio rerio	1	2

MARKER RELATIONSHIPS

sox9a Contained in:	[BAC] CH73-314D5 (1)
sox9a Encodes:	[EST] fj17b12 [cDNA] MGC:111921 (1)

SEQUENCE INFORMATION

Type	Accession #	Length (nt/aa)	Analysis
RNA	RefSeq:NM_131643 (1)	1790 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
Genomic	GenBank:CU074420 (1)	97020 nt	Select Tool MegaBLAST Ensembl
Polypeptide	UniProtKB:Q9DFH2 (1)	462 aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast

Sequence Information (all 23)

ORTHOLOGY for sox9a ( Chr: 12 )

CITATIONS (263)

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