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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	6473
Gene name	SHOX homeobox
Gene symbol	SHOX
Synonyms (NCBI Gene)	GCFXPHOGSHOX1SHOXYSS
Chromosome	X\|Y
Chromosome location	X;Y
Summary	This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome pati

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SNP ID	Visualize variation	Clinical significance	Consequence
rs111549748	G>C	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant
rs113313554	C>A,T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant
rs137852552	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs137852553	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs137852554	C>G	Pathogenic	Missense variant, coding sequence variant
rs137852555	G>T	Pathogenic	Missense variant, coding sequence variant
rs137852556	C>T	Pathogenic	Missense variant, coding sequence variant
rs137852557	C>T	Pathogenic	Missense variant, coding sequence variant
rs137852558	G>T	Pathogenic	Coding sequence variant, stop gained
rs137852559	T>C	Pathogenic	Terminator codon variant, intron variant, stop lost
rs193922466	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs397514461	G>C	Pathogenic	Missense variant, coding sequence variant
rs397514462	C>A	Pathogenic	Missense variant, coding sequence variant
rs576542942	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs750638027	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs757845999	C>-,CC	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs778921118	G>C,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs886043634	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs1057518701	G>A	Pathogenic	Splice donor variant
rs1159449478	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1556450972	->GTT	Pathogenic	5 prime UTR variant
rs1556468777	TAC>AG	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1569493663	AG>-,AGAG	Pathogenic	Frameshift variant, coding sequence variant

353

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miRTarBase ID	miRNA	Experiments	Reference
MIRT666377	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT666376	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT666375	hsa-miR-940	HITS-CLIP	23824327
MIRT666374	hsa-miR-3929	HITS-CLIP	23824327
MIRT666373	hsa-miR-4419b	HITS-CLIP	23824327
MIRT666372	hsa-miR-4478	HITS-CLIP	23824327
MIRT666371	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT666370	hsa-miR-5690	HITS-CLIP	23824327
MIRT666369	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT666368	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT666367	hsa-miR-1827	HITS-CLIP	23824327
MIRT666366	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT666365	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT666364	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT666363	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT666362	hsa-miR-7977	HITS-CLIP	23824327
MIRT666361	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT666360	hsa-miR-665	HITS-CLIP	23824327
MIRT618618	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT618617	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT618616	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT618615	hsa-miR-3183	HITS-CLIP	23824327
MIRT618614	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT618613	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT618612	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618611	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618610	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618609	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618608	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT618618	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT618617	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT618616	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT618615	hsa-miR-3183	HITS-CLIP	23824327
MIRT618614	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT618613	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT618612	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618611	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618610	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618609	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618608	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT618618	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT618617	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT618616	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT618615	hsa-miR-3183	HITS-CLIP	23824327
MIRT618614	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT618613	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT618612	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618611	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618610	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618609	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618608	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT618618	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT618617	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT618616	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT618615	hsa-miR-3183	HITS-CLIP	23824327
MIRT618614	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT618613	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT618612	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618611	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618610	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618609	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618608	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT666377	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT666376	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT666375	hsa-miR-940	HITS-CLIP	23824327
MIRT666374	hsa-miR-3929	HITS-CLIP	23824327
MIRT666373	hsa-miR-4419b	HITS-CLIP	23824327
MIRT666372	hsa-miR-4478	HITS-CLIP	23824327
MIRT666371	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT666370	hsa-miR-5690	HITS-CLIP	23824327
MIRT666369	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT666368	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT666367	hsa-miR-1827	HITS-CLIP	23824327
MIRT666366	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT666365	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT666364	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT666363	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT666362	hsa-miR-7977	HITS-CLIP	23824327
MIRT666361	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT666360	hsa-miR-665	HITS-CLIP	23824327
MIRT618618	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT618617	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT618616	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT618615	hsa-miR-3183	HITS-CLIP	23824327
MIRT618614	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT618613	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT618612	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618611	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618610	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618609	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618608	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT618618	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT618617	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT618616	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT618615	hsa-miR-3183	HITS-CLIP	23824327
MIRT618614	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT618613	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT618612	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618611	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618610	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618609	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618608	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT618618	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT618617	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT618616	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT618615	hsa-miR-3183	HITS-CLIP	23824327
MIRT618614	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT618613	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT618612	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618611	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618610	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618609	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618608	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT618618	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT618617	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT618616	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT618615	hsa-miR-3183	HITS-CLIP	23824327
MIRT618614	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT618613	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT618612	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618611	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618610	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618609	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618608	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT1347552	hsa-miR-1207-5p	CLIP-seq
MIRT1347553	hsa-miR-1293	CLIP-seq
MIRT1347554	hsa-miR-1908	CLIP-seq
MIRT1347555	hsa-miR-299-5p	CLIP-seq
MIRT1347556	hsa-miR-3665	CLIP-seq
MIRT1347557	hsa-miR-3937	CLIP-seq
MIRT1347558	hsa-miR-4483	CLIP-seq
MIRT1347559	hsa-miR-4651	CLIP-seq
MIRT1347560	hsa-miR-4736	CLIP-seq
MIRT1347561	hsa-miR-4755-3p	CLIP-seq
MIRT1347562	hsa-miR-4763-3p	CLIP-seq
MIRT1347563	hsa-miR-4787-5p	CLIP-seq
MIRT1347564	hsa-miR-608	CLIP-seq
MIRT1347565	hsa-miR-629	CLIP-seq
MIRT1347566	hsa-miR-663	CLIP-seq
MIRT1347567	hsa-miR-764	CLIP-seq
MIRT1347568	hsa-miR-1225-3p	CLIP-seq
MIRT1347569	hsa-miR-1233	CLIP-seq
MIRT1347570	hsa-miR-1273e	CLIP-seq
MIRT1347571	hsa-miR-1304	CLIP-seq
MIRT1347572	hsa-miR-141	CLIP-seq
MIRT1347573	hsa-miR-200a	CLIP-seq
MIRT1347574	hsa-miR-2054	CLIP-seq
MIRT1347575	hsa-miR-2114	CLIP-seq
MIRT1347576	hsa-miR-2467-5p	CLIP-seq
MIRT1347577	hsa-miR-3122	CLIP-seq
MIRT1347578	hsa-miR-3165	CLIP-seq
MIRT1347579	hsa-miR-3174	CLIP-seq
MIRT1347580	hsa-miR-3188	CLIP-seq
MIRT1347581	hsa-miR-323-5p	CLIP-seq
MIRT1347582	hsa-miR-3545-3p	CLIP-seq
MIRT1347583	hsa-miR-3622a-3p	CLIP-seq
MIRT1347584	hsa-miR-3622b-3p	CLIP-seq
MIRT1347585	hsa-miR-3656	CLIP-seq
MIRT1347586	hsa-miR-3664-3p	CLIP-seq
MIRT1347587	hsa-miR-3689a-3p	CLIP-seq
MIRT1347588	hsa-miR-3689c	CLIP-seq
MIRT1347589	hsa-miR-3689d	CLIP-seq
MIRT1347590	hsa-miR-3913-5p	CLIP-seq
MIRT1347591	hsa-miR-3926	CLIP-seq
MIRT1347592	hsa-miR-3975	CLIP-seq
MIRT1347593	hsa-miR-4433	CLIP-seq
MIRT1347594	hsa-miR-4459	CLIP-seq
MIRT1347595	hsa-miR-4680-5p	CLIP-seq
MIRT1347596	hsa-miR-4695-5p	CLIP-seq
MIRT1347597	hsa-miR-4728-5p	CLIP-seq
MIRT1347598	hsa-miR-4768-3p	CLIP-seq
MIRT1347599	hsa-miR-4786-5p	CLIP-seq
MIRT1347600	hsa-miR-510	CLIP-seq
MIRT1347601	hsa-miR-512-5p	CLIP-seq
MIRT1347602	hsa-miR-524-3p	CLIP-seq
MIRT1347603	hsa-miR-525-3p	CLIP-seq
MIRT1347604	hsa-miR-541	CLIP-seq
MIRT1347605	hsa-miR-544b	CLIP-seq
MIRT1347606	hsa-miR-548s	CLIP-seq
MIRT1347607	hsa-miR-550a	CLIP-seq
MIRT1347608	hsa-miR-610	CLIP-seq
MIRT1347609	hsa-miR-654-5p	CLIP-seq
MIRT1347610	hsa-miR-658	CLIP-seq
MIRT1347611	hsa-miR-876-3p	CLIP-seq
MIRT1347593	hsa-miR-4433	CLIP-seq
MIRT1922374	hsa-miR-3613-3p	CLIP-seq
MIRT1347568	hsa-miR-1225-3p	CLIP-seq
MIRT1347569	hsa-miR-1233	CLIP-seq
MIRT1347570	hsa-miR-1273e	CLIP-seq
MIRT1347571	hsa-miR-1304	CLIP-seq
MIRT1347575	hsa-miR-2114	CLIP-seq
MIRT1347576	hsa-miR-2467-5p	CLIP-seq
MIRT1347578	hsa-miR-3165	CLIP-seq
MIRT1347579	hsa-miR-3174	CLIP-seq
MIRT1347580	hsa-miR-3188	CLIP-seq
MIRT1347582	hsa-miR-3545-3p	CLIP-seq
MIRT1347583	hsa-miR-3622a-3p	CLIP-seq
MIRT1347584	hsa-miR-3622b-3p	CLIP-seq
MIRT1347585	hsa-miR-3656	CLIP-seq
MIRT1347586	hsa-miR-3664-3p	CLIP-seq
MIRT1347587	hsa-miR-3689a-3p	CLIP-seq
MIRT1347588	hsa-miR-3689c	CLIP-seq
MIRT1347591	hsa-miR-3926	CLIP-seq
MIRT1347592	hsa-miR-3975	CLIP-seq
MIRT1347593	hsa-miR-4433	CLIP-seq
MIRT1347594	hsa-miR-4459	CLIP-seq
MIRT1347595	hsa-miR-4680-5p	CLIP-seq
MIRT1347596	hsa-miR-4695-5p	CLIP-seq
MIRT1347597	hsa-miR-4728-5p	CLIP-seq
MIRT1347598	hsa-miR-4768-3p	CLIP-seq
MIRT2102923	hsa-miR-4785	CLIP-seq
MIRT1347599	hsa-miR-4786-5p	CLIP-seq
MIRT1347600	hsa-miR-510	CLIP-seq
MIRT1347601	hsa-miR-512-5p	CLIP-seq
MIRT1347602	hsa-miR-524-3p	CLIP-seq
MIRT1347603	hsa-miR-525-3p	CLIP-seq
MIRT1347604	hsa-miR-541	CLIP-seq
MIRT1347605	hsa-miR-544b	CLIP-seq
MIRT1347606	hsa-miR-548s	CLIP-seq
MIRT1347607	hsa-miR-550a	CLIP-seq
MIRT1347608	hsa-miR-610	CLIP-seq
MIRT1347609	hsa-miR-654-5p	CLIP-seq
MIRT1347610	hsa-miR-658	CLIP-seq
MIRT1347568	hsa-miR-1225-3p	CLIP-seq
MIRT1347569	hsa-miR-1233	CLIP-seq
MIRT2327241	hsa-miR-1262	CLIP-seq
MIRT1347570	hsa-miR-1273e	CLIP-seq
MIRT1347571	hsa-miR-1304	CLIP-seq
MIRT2327242	hsa-miR-199a-5p	CLIP-seq
MIRT2327243	hsa-miR-199b-5p	CLIP-seq
MIRT1347575	hsa-miR-2114	CLIP-seq
MIRT1347576	hsa-miR-2467-5p	CLIP-seq
MIRT1347577	hsa-miR-3122	CLIP-seq
MIRT1347578	hsa-miR-3165	CLIP-seq
MIRT1347579	hsa-miR-3174	CLIP-seq
MIRT1347580	hsa-miR-3188	CLIP-seq
MIRT1347581	hsa-miR-323-5p	CLIP-seq
MIRT1347582	hsa-miR-3545-3p	CLIP-seq
MIRT1347583	hsa-miR-3622a-3p	CLIP-seq
MIRT1347584	hsa-miR-3622b-3p	CLIP-seq
MIRT1347585	hsa-miR-3656	CLIP-seq
MIRT1347586	hsa-miR-3664-3p	CLIP-seq
MIRT1347587	hsa-miR-3689a-3p	CLIP-seq
MIRT1347588	hsa-miR-3689c	CLIP-seq
MIRT1347590	hsa-miR-3913-5p	CLIP-seq
MIRT1347592	hsa-miR-3975	CLIP-seq
MIRT2327244	hsa-miR-4302	CLIP-seq
MIRT1347593	hsa-miR-4433	CLIP-seq
MIRT1347594	hsa-miR-4459	CLIP-seq
MIRT1347595	hsa-miR-4680-5p	CLIP-seq
MIRT1347596	hsa-miR-4695-5p	CLIP-seq
MIRT2327245	hsa-miR-4701-3p	CLIP-seq
MIRT1347597	hsa-miR-4728-5p	CLIP-seq
MIRT1347598	hsa-miR-4768-3p	CLIP-seq
MIRT1347599	hsa-miR-4786-5p	CLIP-seq
MIRT1347600	hsa-miR-510	CLIP-seq
MIRT1347601	hsa-miR-512-5p	CLIP-seq
MIRT1347602	hsa-miR-524-3p	CLIP-seq
MIRT1347603	hsa-miR-525-3p	CLIP-seq
MIRT1347604	hsa-miR-541	CLIP-seq
MIRT2327246	hsa-miR-542-3p	CLIP-seq
MIRT1347605	hsa-miR-544b	CLIP-seq
MIRT1347607	hsa-miR-550a	CLIP-seq
MIRT1347608	hsa-miR-610	CLIP-seq
MIRT2327247	hsa-miR-648	CLIP-seq
MIRT1347609	hsa-miR-654-5p	CLIP-seq
MIRT1347610	hsa-miR-658	CLIP-seq
MIRT2327248	hsa-miR-661	CLIP-seq
MIRT2327249	hsa-miR-766	CLIP-seq
MIRT1347611	hsa-miR-876-3p	CLIP-seq
MIRT1347568	hsa-miR-1225-3p	CLIP-seq
MIRT1347569	hsa-miR-1233	CLIP-seq
MIRT2327241	hsa-miR-1262	CLIP-seq
MIRT1347570	hsa-miR-1273e	CLIP-seq
MIRT1347571	hsa-miR-1304	CLIP-seq
MIRT2327242	hsa-miR-199a-5p	CLIP-seq
MIRT2327243	hsa-miR-199b-5p	CLIP-seq
MIRT1347575	hsa-miR-2114	CLIP-seq
MIRT1347576	hsa-miR-2467-5p	CLIP-seq
MIRT1347579	hsa-miR-3174	CLIP-seq
MIRT1347580	hsa-miR-3188	CLIP-seq
MIRT1347582	hsa-miR-3545-3p	CLIP-seq
MIRT1347586	hsa-miR-3664-3p	CLIP-seq
MIRT1347587	hsa-miR-3689a-3p	CLIP-seq
MIRT1347588	hsa-miR-3689c	CLIP-seq
MIRT1347592	hsa-miR-3975	CLIP-seq
MIRT2327244	hsa-miR-4302	CLIP-seq
MIRT1347593	hsa-miR-4433	CLIP-seq
MIRT1347594	hsa-miR-4459	CLIP-seq
MIRT1347595	hsa-miR-4680-5p	CLIP-seq
MIRT1347596	hsa-miR-4695-5p	CLIP-seq
MIRT2327245	hsa-miR-4701-3p	CLIP-seq
MIRT1347597	hsa-miR-4728-5p	CLIP-seq
MIRT1347598	hsa-miR-4768-3p	CLIP-seq
MIRT2102923	hsa-miR-4785	CLIP-seq
MIRT1347600	hsa-miR-510	CLIP-seq
MIRT1347601	hsa-miR-512-5p	CLIP-seq
MIRT2327246	hsa-miR-542-3p	CLIP-seq
MIRT1347607	hsa-miR-550a	CLIP-seq
MIRT1347608	hsa-miR-610	CLIP-seq
MIRT2327247	hsa-miR-648	CLIP-seq
MIRT1347610	hsa-miR-658	CLIP-seq
MIRT2327248	hsa-miR-661	CLIP-seq
MIRT2327249	hsa-miR-766	CLIP-seq
MIRT2327241	hsa-miR-1262	CLIP-seq
MIRT2327242	hsa-miR-199a-5p	CLIP-seq
MIRT2327243	hsa-miR-199b-5p	CLIP-seq
MIRT2459328	hsa-miR-3647-3p	CLIP-seq
MIRT2459329	hsa-miR-3675-3p	CLIP-seq
MIRT2327244	hsa-miR-4302	CLIP-seq
MIRT2459330	hsa-miR-4684-5p	CLIP-seq
MIRT2327245	hsa-miR-4701-3p	CLIP-seq
MIRT2459331	hsa-miR-4724-5p	CLIP-seq
MIRT2327246	hsa-miR-542-3p	CLIP-seq
MIRT2327247	hsa-miR-648	CLIP-seq
MIRT2327248	hsa-miR-661	CLIP-seq
MIRT2327249	hsa-miR-766	CLIP-seq
MIRT2622553	hsa-miR-1254	CLIP-seq
MIRT2622554	hsa-miR-1273	CLIP-seq
MIRT2622555	hsa-miR-1273c	CLIP-seq
MIRT2622556	hsa-miR-137	CLIP-seq
MIRT2622557	hsa-miR-146a	CLIP-seq
MIRT2622558	hsa-miR-146b-5p	CLIP-seq
MIRT2622559	hsa-miR-3116	CLIP-seq
MIRT2622560	hsa-miR-3120-5p	CLIP-seq
MIRT2622561	hsa-miR-330-3p	CLIP-seq
MIRT1922374	hsa-miR-3613-3p	CLIP-seq
MIRT2622562	hsa-miR-371-5p	CLIP-seq
MIRT2622563	hsa-miR-371b-5p	CLIP-seq
MIRT2622564	hsa-miR-4486	CLIP-seq
MIRT2622565	hsa-miR-4649-5p	CLIP-seq
MIRT2459330	hsa-miR-4684-5p	CLIP-seq
MIRT2622566	hsa-miR-508-5p	CLIP-seq
MIRT2622567	hsa-miR-593	CLIP-seq
MIRT2327248	hsa-miR-661	CLIP-seq
MIRT2327249	hsa-miR-766	CLIP-seq
MIRT2622553	hsa-miR-1254	CLIP-seq
MIRT2622554	hsa-miR-1273	CLIP-seq
MIRT2622555	hsa-miR-1273c	CLIP-seq
MIRT2622556	hsa-miR-137	CLIP-seq
MIRT2622559	hsa-miR-3116	CLIP-seq
MIRT2622560	hsa-miR-3120-5p	CLIP-seq
MIRT2622561	hsa-miR-330-3p	CLIP-seq
MIRT1922374	hsa-miR-3613-3p	CLIP-seq
MIRT2622562	hsa-miR-371-5p	CLIP-seq
MIRT2622563	hsa-miR-371b-5p	CLIP-seq
MIRT2622564	hsa-miR-4486	CLIP-seq
MIRT2622565	hsa-miR-4649-5p	CLIP-seq
MIRT2459330	hsa-miR-4684-5p	CLIP-seq
MIRT2622566	hsa-miR-508-5p	CLIP-seq
MIRT2622567	hsa-miR-593	CLIP-seq
MIRT2327248	hsa-miR-661	CLIP-seq
MIRT2327249	hsa-miR-766	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
HOXA9	Unknown	23028966

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
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	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	11751690
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	11751690
GO:0001501	Process	Skeletal system development	TAS	9590292
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	21262861, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0043565	Function	Sequence-specific DNA binding	IDA	11751690
GO:0043565	Function	Sequence-specific DNA binding	IMP	11751690
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	11751690
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IBA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
312865	N/A	HGNC

O15266

Protein name

Short stature homeobox protein (Pseudoautosomal homeobox-containing osteogenic protein) (Short stature homeobox-containing protein)

Protein function

Controls fundamental aspects of growth and development.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	118 → 174	Homeodomain	Domain
PF03826	OAR	271 → 288	OAR motif	Motif

Tissue specificity

TISSUE SPECIFICITY: SHOXA is expressed in skeletal muscle, placenta, pancreas, heart and bone marrow fibroblast and SHOXB is highly expressed in bone marrow fibroblast followed by kidney and skeletal muscle. SHOXB is not expressed in brain, kidney, liver

Sequence

MEELTAFVSKSFDQKSKDGNGGGGGGGGKKDSITYREVLESGLARSRELGTSDSSLQDIT
EGGGHCPVHLFKDHVDNDKEKLKEFGTARVAEGIYECKEKREDVKSEDEDGQTKLKQRRS
RTNFTLEQLNELERLFDETHYPDAFMREELSQRLGLSEARVQVWFQNRRAKCRKQENQMH
KGVILGTANHLDACRVAPYVNMGALRMPFQQVQAQLQLEGVAHAHPHLHPHLAAHAPYLM
FPPPPFGLPIASLAESASAAAVVAAAAKSNSKNSSIADLRLKARKHAEALGL

Sequence length

292

Interactions

View interactions

123

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Connective tissue disorder	Likely pathogenic	rs2124165604	RCV002278796
Langer mesomelic dysplasia syndrome	Likely pathogenic; Pathogenic	rs137852557, rs757845999, rs1569493663, rs2522102022, rs397514461	RCV000010555 RCV000010557 RCV000010558 RCV003985970 RCV000022888
Leri-Weill dyschondrosteosis	Pathogenic; Likely pathogenic	rs746801054, rs2124154821, rs1425206026, rs757391565, rs765251991, rs2052925859, rs752208304, rs1569495224, rs2522102328, rs137852552, rs137852553, rs137852554, rs137852555, rs2522084197, rs137852556 View all (9 more)	RCV002246450 RCV001808132 RCV002246699 RCV002246700 RCV002246702 RCV002246703 RCV002246704 RCV002246706 RCV004700770 RCV002247313 RCV000010548 RCV000010551 RCV000010552 RCV000010553 RCV000010554 RCV000010556 RCV002247314 RCV000010559 RCV003985970 RCV004006253 RCV000022887 RCV000022889 RCV002509522 RCV002249789
Nonpapillary renal cell carcinoma	Likely pathogenic	rs2522131120	RCV005933649
SHOX-related disorder	Pathogenic; Likely pathogenic	rs137852552, rs137852556, rs2522102405, rs2522102225	RCV004757100 RCV004757101 RCV003982614 RCV003893904
SHOX-related short stature	Pathogenic; Likely pathogenic	rs1556450972, rs137852552, rs778921118, rs1057518701, rs1159449478, rs201157428, rs2052635829, rs2052711401	RCV000190325 RCV000010547 RCV000256224 RCV000415164 RCV000786992 RCV001201340 RCV001290977 RCV001262830

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Gastric cancer	Benign	rs28474801	RCV005901808
Uterine carcinosarcoma	Benign	rs28474801	RCV005901809

Show/Hide Text Mining Associations (59)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acrophobia	Associate	17182655
Atypical Squamous Cells of the Cervix	Associate	32647378
Bone Diseases	Associate	30626445
CATSHL syndrome	Stimulate	19016538
CATSHL syndrome	Associate	20425825
Chromosome Aberrations	Associate	31158835
Clubfoot	Associate	32518174
Colorectal Neoplasms	Associate	23456391
Congenital Abnormalities	Associate	16597678, 21252244, 25056248, 37806643
Congenital Bone Marrow Failure Syndromes	Associate	15145945
Cubitus Valgus with Mental Retardation and Unusual Facies	Associate	11523902, 17182655
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	32344414, 32647378, 34811950
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Inhibit	32647378
Disorders of Sex Development	Associate	24088663
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions	Associate	20538086, 27387244
Dwarfism Pituitary	Associate	30626445
Dyslipidemias	Associate	32633455
Epilepsy Generalized	Associate	14636323
Episodic Ataxia	Associate	24398799
Forearm Injuries	Associate	32295321
gaze palsy familial horizontal with progressive scoliosis	Associate	19016538
Genetic Diseases Inborn	Associate	37107635
Growth Disorders	Associate	11523902, 11546827, 15145945, 15931595, 16597678, 17182655, 19578035, 20538086, 21448463, 23208451, 23426818, 24398799, 27387244, 30626445, 31412912 View all (5 more)
Growth Disorders	Inhibit	19016538
HEM dysplasia	Associate	28768959, 32518174, 37107635
Hodgkin Disease	Associate	10521308
Hodgkin disease X linked pseudoautosomal	Stimulate	33344636
Hypertension	Associate	32633455
Hypertrophy	Associate	17182655
Hypospadias	Associate	28498391
Ichthyosis	Associate	14636323
Immunologic Deficiency Syndromes	Inhibit	15145945, 23426818
Immunologic Deficiency Syndromes	Associate	23426818
Kyphosis	Associate	19016538
Langer Giedion Syndrome	Associate	17182655
Langer mesomelic dysplasia	Associate	15931595, 16175500, 21712857, 30626445, 32295321, 37107635
Leri Weil syndrome	Associate	10507731, 10521308, 15145945, 15931595, 16175500, 17182655, 19578035, 20538086, 21712857, 22071895, 25056248, 25217032, 27387244, 30626445, 31158835 View all (5 more)
Leri Weil syndrome	Inhibit	29469136
Lipomatosis Multiple Symmetrical	Associate	25217032
Madelung Deformity	Associate	11523902, 17182655, 21712857, 25056248, 32344414
Mental Retardation X Linked with Short Stature	Associate	19016538
Mesomelia synostoses syndrome	Associate	32344414
Mesomelic Limb Shortening and Bowing	Associate	21712857
Mullerian aplasia	Associate	20847698, 33432050
Musculoskeletal Abnormalities	Associate	11546827, 15145945, 32295321
Neoplasms	Associate	29469136
Neoplasms Cystic Mucinous and Serous	Associate	39198908
Oligospermia	Associate	36251127
Prader Willi Syndrome	Associate	33006547, 35842787
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	29469136
Puberty Precocious	Associate	30626445
Renal Insufficiency	Associate	19578035
Scoliosis	Associate	19016538
Sex Chromosome Disorders	Stimulate	20425825
Short Stature Idiopathic Autosomal	Associate	15931595, 16175500, 16803952, 19578035, 22071895, 26758084, 27387244, 30626445, 31158835, 32295321, 32518174, 32647378, 33850126, 34680940
SHORT syndrome	Associate	21252244
Turner Syndrome	Associate	11523902, 11546827, 15931595, 17182655, 25217032, 30530863
Turner Syndrome	Inhibit	19016538
Urogenital Abnormalities	Associate	30626445

SHOX (SHOX homeobox)