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SOX5 (SRY-box transcription factor 5)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6660
Gene nameGene Name - the full gene name approved by the HGNC.
SRY-box transcription factor 5
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SOX5
SynonymsGene synonyms aliases
L-SOX5, L-SOX5B, L-SOX5F, LAMSHF
ChromosomeChromosome number
12
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p12.1
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after for
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs767241917 G>A Pathogenic, likely-pathogenic Coding sequence variant, stop gained, genic upstream transcript variant
rs773832380 C>A,T Likely-pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs869025321 C>A Pathogenic Coding sequence variant, genic upstream transcript variant, stop gained
rs869312867 G>C Likely-pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
rs895607185 G>A Pathogenic Stop gained, downstream transcript variant, coding sequence variant, genic downstream transcript variant, intron variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000960 hsa-miR-21-5p Western blot, Northern blot 19013014
MIRT000960 hsa-miR-21-5p qRT-PCR 19013014
MIRT000960 hsa-miR-21-5p Luciferase reporter assay 19013014
MIRT006327 hsa-miR-194-5p Luciferase reporter assay, qRT-PCR, Western blot 22396742
MIRT006327 hsa-miR-194-5p Luciferase reporter assay, qRT-PCR, Western blot 22396742
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding IDA 26525805
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P35711
Protein name Transcription factor SOX-5
Protein function Transcription factor involved in chondrocytes differentiation and cartilage formation. Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, includin
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00505 HMG_box
556 624
HMG (high mobility group) box
Domain
Sequence
MLTDPDLPQEFERMSSKRPASPYGEADGEVAMVTSRQKVEEEESDGLPAFHLPLHVSFPN
KPHSEEFQPVSLLTQETCGHRTPTSQHNTMEVDGNKVMSSFAPHNSSTSPQKAEEGGRQS
GESLSSTALGTPERRKGSLADVVDTLKQRKMEELIKNEPEETPSIEKLLSKDWKDKLLAM
GSGNFGEIKGTPESLAEKERQLMGMINQLTSLREQLLAAHDEQKKLAASQIEKQRQQMEL
AKQQQEQIARQQQQLLQQQHKINLLQQQIQVQGQLPPLMIPVFPPDQRTLAAAAQQGFLL
PPGFSYKAGCSDPYPVQLIPTTMAAAAAATPGLGPLQLQQLYAAQLAAMQVSPGGKLPGI
PQGNLGAAVSPTSIHTDKSTNSPPPKSKDEVAQPLNLSAKPKTSDGKSPTSPTSPHMPAL
RINSGAGPLKASVPAALASPSARVSTIGYLNDHDAVTKAIQEARQMKEQLRREQQVLDGK
VAVVNSLGLNNCRTEKEKTTLESLTQQLAVKQNEEGKFSHAMMDFNLSGDSDGSAGVSES
RIYRESRGRGSNEPHIKRPMNAFMVWAKDERRKILQAFPDMHNSNISKILGSRWKAMTNL
EKQPYYEEQARLSKQHLEKYPDYK
YKPRPKRTCLVDGKKLRIGEYKAIMRNRRQEMRQYF
NVGQQAQIPIATAGVVYPGAIAMAGMPSPHLPSEHSSVSSSPEPGMPVIQSTYGVKGEEP
HIKEEIQAEDINGEIYDEYDEEEDDPDVDYGSDSENHIAGQAN
Sequence length 763
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675 20062060, 30061737
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs120074176, rs786205019
Autism spectrum disorder Autism Spectrum Disorders rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1452048149, rs370498156, rs756691187, rs1557863430, rs1557863440, rs1557863546, rs769581210, rs202098093, rs1276388879, rs778792467, rs760059077, rs373783340, rs1557867853, rs772572695, rs753214391, rs749270162, rs548226228, rs1557870645, rs1557874046, rs749548928, rs754532606, rs1557901347, rs1557902023, rs1557909572, rs574335012, rs1557909821, rs1372713010, rs561369202, rs1476293577, rs1557910728, rs1557911386, rs375045125, rs998675361, rs1557916296, rs1557935477, rs866632178, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813 20808228
Azoospermia Azoospermia rs200969445, rs144567652, rs765353898 22197933
Unknown
Disease name Disease term dbSNP ID References
12p12.1 microdeletion syndrome 12p12.1 microdeletion syndrome 22290657
Anxiety disorder Anxiety
Clinodactyly Clinodactyly of fingers, Clinodactyly
Congenital epicanthus Congenital Epicanthus

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