Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6660
Gene name Gene Name - the full gene name approved by the HGNC.	SRY-box transcription factor 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SOX5
Synonyms (NCBI Gene) Gene synonyms aliases	L-SOX5, L-SOX5B, L-SOX5F, LAMSHF
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12p12.1
Summary Summary 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

Show/Hide all(22)

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
rs1057518928	G>A	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1135401816	G>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1555141265	A>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1555301854	TT>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1555307370	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1565669269	C>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1565669640	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1591833159	T>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1591833497	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1591833522	T>C,G	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1591833842	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1591908568	T>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1591908609	T>C	Pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs1591909421	G>C	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1592099396	->G	Pathogenic	Downstream transcript variant, frameshift variant, genic downstream transcript variant, intron variant, coding sequence variant
rs1592099852	G>A	Pathogenic	3 prime UTR variant, stop gained, intron variant, coding sequence variant
rs1593090725	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant

Show/Hide all(233)

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
MIRT006327	hsa-miR-194-5p	Luciferase reporter assay, qRT-PCR, Western blot	22396742
MIRT016813	hsa-miR-335-5p	Microarray	18185580
MIRT023491	hsa-miR-1-3p	Microarray	18668037
MIRT028774	hsa-miR-26b-5p	Microarray	19088304
MIRT000960	hsa-miR-21-5p	Microarray	18591254
MIRT053393	hsa-miR-96-5p	Microarray	23807165
MIRT053638	hsa-miR-130a-3p	Microarray	22942087
MIRT053681	hsa-miR-181a-5p	Microarray	22942087
MIRT054894	hsa-miR-132-3p	Luciferase reporter assay, Western blot	25305446
MIRT054894	hsa-miR-132-3p	Luciferase reporter assay, Western blot	25305446
MIRT054895	hsa-miR-15a-5p	Luciferase reporter assay, Western blot	25305446
MIRT054895	hsa-miR-15a-5p	Luciferase reporter assay, Western blot	25305446
MIRT054896	hsa-miR-16-5p	Luciferase reporter assay, Western blot	25305446
MIRT054896	hsa-miR-16-5p	Luciferase reporter assay, Western blot	25305446
MIRT720548	hsa-miR-3607-5p	HITS-CLIP	19536157
MIRT720547	hsa-miR-4783-5p	HITS-CLIP	19536157
MIRT720546	hsa-miR-933	HITS-CLIP	19536157
MIRT508327	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT503329	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT503328	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT520979	hsa-miR-555	HITS-CLIP	21572407
MIRT503327	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT503326	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT503325	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT503324	hsa-miR-3924	HITS-CLIP	21572407
MIRT441400	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT508326	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT503328	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT520979	hsa-miR-555	PAR-CLIP	20371350
MIRT573464	hsa-miR-6748-5p	PAR-CLIP	20371350
MIRT573463	hsa-miR-6793-5p	PAR-CLIP	20371350
MIRT503327	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT573462	hsa-miR-6759-5p	PAR-CLIP	20371350
MIRT508326	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT572337	hsa-miR-3529-3p	PAR-CLIP	20371350
MIRT572336	hsa-miR-4704-5p	PAR-CLIP	20371350
MIRT534099	hsa-miR-136-3p	PAR-CLIP	20371350
MIRT534098	hsa-miR-374a-3p	PAR-CLIP	20371350
MIRT508327	hsa-miR-5580-3p	PAR-CLIP	20371350
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT503324	hsa-miR-3924	PAR-CLIP	20371350
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT508327	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503328	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT503327	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503324	hsa-miR-3924	PAR-CLIP	21572407
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508326	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503328	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT503327	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503324	hsa-miR-3924	PAR-CLIP	21572407
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508326	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT508327	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503328	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT503327	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503324	hsa-miR-3924	PAR-CLIP	21572407
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508326	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT534099	hsa-miR-136-3p	PAR-CLIP	22012620
MIRT534098	hsa-miR-374a-3p	PAR-CLIP	22012620
MIRT508327	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503328	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT520979	hsa-miR-555	PAR-CLIP	23446348
MIRT503327	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503324	hsa-miR-3924	PAR-CLIP	23446348
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT508326	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT508327	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503328	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT503327	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503324	hsa-miR-3924	PAR-CLIP	23446348
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT508326	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503328	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT503327	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503324	hsa-miR-3924	PAR-CLIP	23446348
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT441399	hsa-miR-4766-5p	PAR-CLIP	22100165
MIRT441398	hsa-miR-3926	PAR-CLIP	22100165
MIRT441397	hsa-miR-548s	PAR-CLIP	22100165
MIRT441396	hsa-miR-4288	PAR-CLIP	22100165
MIRT441395	hsa-miR-632	PAR-CLIP	22100165
MIRT441394	hsa-miR-1231	PAR-CLIP	22100165
MIRT720548	hsa-miR-3607-5p	HITS-CLIP	19536157
MIRT720547	hsa-miR-4783-5p	HITS-CLIP	19536157
MIRT720546	hsa-miR-933	HITS-CLIP	19536157
MIRT508327	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT503329	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT503328	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT520979	hsa-miR-555	HITS-CLIP	21572407
MIRT503327	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT503326	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT503325	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT503324	hsa-miR-3924	HITS-CLIP	21572407
MIRT441400	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT508326	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT503328	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT520979	hsa-miR-555	PAR-CLIP	20371350
MIRT573464	hsa-miR-6748-5p	PAR-CLIP	20371350
MIRT573463	hsa-miR-6793-5p	PAR-CLIP	20371350
MIRT503327	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT573462	hsa-miR-6759-5p	PAR-CLIP	20371350
MIRT508326	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT572337	hsa-miR-3529-3p	PAR-CLIP	20371350
MIRT572336	hsa-miR-4704-5p	PAR-CLIP	20371350
MIRT534099	hsa-miR-136-3p	PAR-CLIP	20371350
MIRT534098	hsa-miR-374a-3p	PAR-CLIP	20371350
MIRT508327	hsa-miR-5580-3p	PAR-CLIP	20371350
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT503324	hsa-miR-3924	PAR-CLIP	20371350
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT508327	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503328	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT503327	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503324	hsa-miR-3924	PAR-CLIP	21572407
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508326	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503328	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT503327	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503324	hsa-miR-3924	PAR-CLIP	21572407
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508326	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT508327	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503328	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT503327	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503324	hsa-miR-3924	PAR-CLIP	21572407
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508326	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT534099	hsa-miR-136-3p	PAR-CLIP	22012620
MIRT534098	hsa-miR-374a-3p	PAR-CLIP	22012620
MIRT508327	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503328	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT520979	hsa-miR-555	PAR-CLIP	23446348
MIRT503327	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503324	hsa-miR-3924	PAR-CLIP	23446348
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT508326	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT508327	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503328	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT503327	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503324	hsa-miR-3924	PAR-CLIP	23446348
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT508326	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503328	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT503327	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503324	hsa-miR-3924	PAR-CLIP	23446348
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT441399	hsa-miR-4766-5p	PAR-CLIP	22100165
MIRT441398	hsa-miR-3926	PAR-CLIP	22100165
MIRT441397	hsa-miR-548s	PAR-CLIP	22100165
MIRT441396	hsa-miR-4288	PAR-CLIP	22100165
MIRT441395	hsa-miR-632	PAR-CLIP	22100165
MIRT441394	hsa-miR-1231	PAR-CLIP	22100165
MIRT1380639	hsa-miR-4694-5p	CLIP-seq
MIRT1380640	hsa-miR-4787-5p	CLIP-seq
MIRT1922990	hsa-miR-4773	CLIP-seq
MIRT1922991	hsa-miR-513a-3p	CLIP-seq
MIRT1922992	hsa-miR-593	CLIP-seq
MIRT1922993	hsa-miR-654-3p	CLIP-seq
MIRT1922990	hsa-miR-4773	CLIP-seq
MIRT2336923	hsa-miR-569	CLIP-seq
MIRT2394984	hsa-miR-3187-3p	CLIP-seq
MIRT2394985	hsa-miR-4252	CLIP-seq
MIRT2394986	hsa-miR-4435	CLIP-seq
MIRT2394987	hsa-miR-4490	CLIP-seq
MIRT2394988	hsa-miR-4701-5p	CLIP-seq
MIRT2394989	hsa-miR-588	CLIP-seq
MIRT2630408	hsa-miR-218	CLIP-seq
MIRT2394984	hsa-miR-3187-3p	CLIP-seq
MIRT2394985	hsa-miR-4252	CLIP-seq
MIRT2394986	hsa-miR-4435	CLIP-seq
MIRT2394987	hsa-miR-4490	CLIP-seq
MIRT2394988	hsa-miR-4701-5p	CLIP-seq
MIRT2336923	hsa-miR-569	CLIP-seq
MIRT2394989	hsa-miR-588	CLIP-seq
MIRT2630409	hsa-miR-636	CLIP-seq
MIRT2630408	hsa-miR-218	CLIP-seq
MIRT2394984	hsa-miR-3187-3p	CLIP-seq
MIRT2394985	hsa-miR-4252	CLIP-seq
MIRT2394986	hsa-miR-4435	CLIP-seq
MIRT2394987	hsa-miR-4490	CLIP-seq
MIRT2394988	hsa-miR-4701-5p	CLIP-seq
MIRT2336923	hsa-miR-569	CLIP-seq
MIRT2394989	hsa-miR-588	CLIP-seq
MIRT2630409	hsa-miR-636	CLIP-seq

Show/Hide all(25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	26525805
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0001502	Process	Cartilage condensation	ISS
GO:0002062	Process	Chondrocyte differentiation	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8812465
GO:0005515	Function	Protein binding	IPI	21262861, 22458338, 25416956, 31515488, 32296183, 32814053, 35140242
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006366	Process	Transcription by RNA polymerase II	TAS	8812465
GO:0030154	Process	Cell differentiation	IEA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IBA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IDA	21401405
GO:0045165	Process	Cell fate commitment	IBA
GO:0051216	Process	Cartilage development	ISS
GO:0055059	Process	Asymmetric neuroblast division	IGI	23946438
GO:0061036	Process	Positive regulation of cartilage development	IDA	21401405
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IDA	21401405
GO:2000741	Process	Positive regulation of mesenchymal stem cell differentiation	IDA	21401405

MIM	HGNC	e!Ensembl
604975	11201	ENSG00000134532

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
EKQPYYEEQARLSKQHLEKYPDYKYKPRPKRTCLVDGKKLRIGEYKAIMRNRRQEMRQYF
NVGQQAQIPIATAGVVYPGAIAMAGMPSPHLPSEHSSVSSSPEPGMPVIQSTYGVKGEEP
HIKEEIQAEDINGEIYDEYDEEEDDPDVDYGSDSENHIAGQAN

Sequence length

763

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
LAMB-SHAFFER SYNDROME	lamb-shaffer syndrome	rs1591908680, rs1591833497, rs1591833522, rs869025321, rs1940534444, rs1057518845, rs1591833842, rs1135401816, rs1591908568, rs1591909421, rs1555141265, rs895607185, rs767241917, rs1592099396, rs1555301854 View all (6 more)	N/A
Mental retardation	intellectual disability	rs1135401816	N/A

Show/Hide Unknown Diseases (12)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
Attention Deficit Hyperactivity Disorder	Attention deficit hyperactivity disorder	N/A	N/A	GWAS
Developmental And Speech Delay	developmental and speech delay due to SOX5 deficiency	N/A	N/A	GenCC
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Inflammatory Bowel Disease	Inflammatory bowel disease	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Neuroticism	Neuroticism	N/A	N/A	GWAS
Non-obstructive azoospermia	Non-obstructive azoospermia	N/A	N/A	GWAS
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS
tourette syndrome	Tourette syndrome	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (50)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Arthritis Rheumatoid	Associate	29424904, 32678069
Asthma	Associate	24876173
Atrial Fibrillation	Associate	20062060, 25015694, 33350184
Atrial Fibrillation	Inhibit	34833481
Azoospermia	Associate	24303009, 32815100
Azoospermia Nonobstructive	Associate	30863997
Brain Neoplasms	Associate	22688887
Calcinosis Cutis	Stimulate	26927636
Carcinoma Hepatocellular	Associate	35048790
Carcinoma Non Small Cell Lung	Associate	31917898
Colorectal Neoplasms	Associate	24393480
Congenital Abnormalities	Associate	22290657
Cryoglobulinemia Familial Mixed	Associate	21421840
Developmental Disabilities	Associate	22290657
Diabetes Mellitus	Associate	36978091
Diabetes Mellitus Type 1	Associate	35534828
Endometrial Neoplasms	Associate	30888986
Esophageal Squamous Cell Carcinoma	Associate	37531195
Glioma	Associate	22688887
Glycosuria Renal	Associate	36978091
Hypoxia	Stimulate	17537234, 32216582
Ichthyosis X Linked	Associate	37679009
Infertility	Associate	32815100
Infertility Male	Associate	30863997, 32815100
Inflammation	Associate	32678069
Intellectual Disability	Associate	22290657
Isodicentric Chromosome 15 Syndrome	Associate	26043835
Language Development Disorders	Associate	22290657
Melanoma	Associate	26927636
Mental Disorders	Associate	22290657, 30545854
Multiple Sclerosis	Associate	21152067
Neoplasms	Associate	26501866, 35880568
Nevus Pigmented	Associate	30359577
Oligospermia	Associate	24303009
Optic Atrophy	Associate	40180173
Optic Nerve Hypoplasia	Associate	32040484
Osteoarthritis	Stimulate	16735197
Osteochondroma	Associate	26043835
Osteosarcoma	Associate	28365963
Pediatric acute onset neuropsychiatric syndrome	Associate	30545854
Prostatic Neoplasms	Associate	30551470
Psoriasis	Associate	27810495
Pulmonary Disease Chronic Obstructive	Associate	24876173
Rectal Neoplasms	Associate	33124951
Severe Acute Respiratory Syndrome	Associate	33784440
Stomach Neoplasms	Associate	31322222, 32216582, 33124951, 35975639
Syndrome	Associate	32040484
Urinary Bladder Neoplasms	Associate	35880568, 37862152
Ventricular Dysfunction Left	Associate	21791083
Vision Disorders	Associate	26350515

SOX5 (SRY-box transcription factor 5)