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SHOX (SHOX homeobox)
Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6473
Gene nameGene Name - the full gene name approved by the HGNC.
SHOX homeobox
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SHOX
SynonymsGene synonyms aliases
GCFX, PHOG, SHOX1, SHOXY, SS
ChromosomeChromosome number
X|Y
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
X;Y
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Transcription factor Regulation Reference
HOXA9 Unknown 23028966
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
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
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
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
Sequence 
MEELTAFVSKSFDQKSKDGNGGGGGGGGKKDSITYREVLESGLARSRELGTSDSSLQDIT
EGGGHCPVHLFKDHVDNDKEKLKEFGTARVAEGIYECKEKREDVKSEDEDGQTKLKQRRS
RTNFTLEQLNELERLFDETHYPDAFMREELSQRLGLSEARVQVWFQNRRAKCRKQENQMH
KGVILGTANHLDACRVAPYVNMGALRMPFQQVQAQLQLEGVAHAHPHLHPHLAAHAPYLM
FPPPPFGLPIASLAESASAAAVVAAAAKSNSKNSSIADLRLKARKHAEALGL
Sequence length 292
Interactions View interactions
Associated diseases
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Langer mesomelic dysplasia syndrome Langer mesomelic dysplasia, Langer Mesomelic Dysplasia Syndrome rs137852557, rs757845999, rs1569493663, rs397514461 21712857, 11889214, 12116254
Leri-weill dyschondrosteosis Leri-Weill dyschondrosteosis rs137852552, rs137852553, rs137852554, rs137852555, rs137852556, rs137852557, rs757845999, rs137852558, rs397514461, rs397514462, rs1569493663 11030412, 11403039, 21712857
Multiple congenital exostosis Hereditary Multiple Exostoses rs119103287, rs119103288, rs119103290, rs886039353, rs1586279285, rs786205593, rs886039357, rs886039356, rs886039355, rs886039354, rs886039352, rs886039486, rs886039561, rs1057520608, rs1554601476, rs1064793753, rs1131692020, rs1554578802, rs1554580149, rs1554601492, rs1554580142, rs1554601502, rs1554580153, rs1554657940, rs1554578798, rs1554579004, rs1554580140, rs1363815113, rs1554657437, rs1554601474, rs1554601534, rs1554601559, rs1554657927, rs1554580147, rs1554601568, rs1554656288, rs1554578992, rs1554656266, rs1554601483, rs1554601525, rs1554580162, rs1554601481, rs1554601504, rs1554601507, rs1227875610, rs1563575697, rs1563659325, rs1563659352, rs1563659467, rs1563659474, rs1563659649, rs1563872934, rs1563575654, rs1131691623, rs1563569983, rs11546829, rs1563571318, rs1563659821, rs1563571296, rs1586989202, rs1586989220, rs1586990317, rs1586990402, rs1587001428, rs1587003655, rs1587004341, rs1586279297, rs1586279535, rs1586279544, rs1586279621, rs1586279835, rs1586279952, rs1586280235, rs1233701691, rs1586997796, rs1587003661, rs1554578710, rs1587003662, rs1586990361, rs1586990398, rs1369118661, rs1586280217, rs1586989189, rs1823212594, rs1823212809, rs1823253080, rs1718310043, rs1823253698, rs1823254238, rs1823254431, rs1823350888, rs1823352329, rs1823353269, rs1811864784, rs1811893325, rs1811940788, rs1812075737, rs1812077342, rs561006425, rs1812078315, rs1812173838, rs1812174128, rs1812200035, rs1812200901, rs1817867776, rs1817872132, rs1817878703, rs1817879125, rs982804750, rs1817884791, rs1817885411, rs1817887343, rs1817889027, rs1817893887, rs1817895168, rs1823350857, rs1811893467, rs1823251224, rs1823251265, rs1823350795, rs1811943967, rs1823354043, rs1812078423, rs1817893036
Unknown
Disease name Disease term dbSNP ID References
Cubitus valgus Acquired cubitus valgus
Camptodactyly of fingers Clinodactyly of the 5th finger
Congenital hypoplasia of radius Congenital hypoplasia of radius
Dwarfism Dwarfism

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