ENSG00000185960


Homo sapiens

Features
Gene ID: ENSG00000185960
  
Biological name :SHOX
  
Synonyms : O15266 / short stature homeobox / SHOX
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: p22.33
Gene start: 624344
Gene end: 659411
  
Corresponding Affymetrix probe sets: 207570_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000335505
Ensembl peptide - ENSP00000370987
Ensembl peptide - ENSP00000370990
NCBI entrez gene - 6473     See in Manteia.
OMIM - 312865
OMIM - 400020
RefSeq - NM_000451
RefSeq - NM_006883
RefSeq Peptide - NP_000442
RefSeq Peptide - NP_006874
swissprot - A0A024R385
swissprot - O15266
Ensembl - ENSG00000185960
  
Related genetic diseases (OMIM): 127300 - Leri-Weill dyschondrosteosis, 127300
  249700 - Langer mesomelic dysplasia, 249700
  300582 - Short stature, idiopathic familial, 300582

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 shoxENSDARG00000025891Danio rerio
 SHOXENSGALG00000016698Gallus gallus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SHOX2 / O60902 / short stature homeobox 2ENSG0000016877967
ESX1 / Q8N693 / ESX homeobox 1ENSG0000012357624
OTP / Q5XKR4 / orthopedia homeoboxENSG0000017154023
Q9BQY4 / RHOXF2 / Rhox homeobox family member 2ENSG0000013172117
P0C7M4 / RHOXF2B / Rhox homeobox family member 2BENSG0000020398916
Q8NHV9 / RHOXF1 / Rhox homeobox family member 1ENSG0000010188313


Protein motifs (from Interpro)
Interpro ID Name
 IPR000047  Helix-turn-helix motif
 IPR001356  Homeobox domain
 IPR003654  OAR domain
 IPR009057  Homeobox-like domain superfamily
 IPR017970  Homeobox, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001501 skeletal system development TAS
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II TAS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IMP
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IMP


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000218 High palate "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428]
Show

 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
Show

 HP:0000431 Broad nasal bridge "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators]
Show

 HP:0000470 Short neck 
Show

 HP:0000944 Abnormality of the metaphyses 
Show

 HP:0001156 Brachydactyly 
Show

 HP:0001191 Abnormality of the carpal bones "An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate)." [HPO:curators]
Show

 HP:0001387 Joint stiffness "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators]
Show

 HP:0001513 Obesity "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765]
Show

 HP:0001773 Short, broad feet "Abnormally short and wide feet." [HPO:curators]
Show

 HP:0001804 Hypoplastic fingernails "Underdeveloped fingernails." [HPO:curators]
Show

 HP:0002648 Abnormality of skull shape "An abnormality of the shape of the skull." [HPO:curators]
Show

 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
Show

 HP:0002823 Abnormality of the femur "Abnormality of the femur (i.e., the thigh bone)." [HPO:curators]
Show

 HP:0002857 Genu valgum 
Show

 HP:0002967 Cubitus valgus 
Show

 HP:0002970 Genu varum 
Show

 HP:0002982 Tibial bowing "A developmental defect with posteromedial tibial angulation." [HPO:curators]
Show

 HP:0002983 Micromelia 
Show

 HP:0002984 Hypoplasia of the radius "Underdevelopment of the radius." [HPO:curators]
Show

 HP:0002986 Radial bowing 
Show

 HP:0002997 Abnormality of the ulna "Ab abnormality of the ulna bone of the forearm." [HPO:curators]
Show

 HP:0003022 Hypoplasia of the ulna "Underdevelopment of the ulna." [HPO:curators]
Show

 HP:0003027 Mesomelia "Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments." [HPO:sdoelken]
Show

 HP:0003031 Ulnar bowing "Bending of the diaphysis (shaft) of the ulna, usually in the convex posterior direction." [HPO:curators]
Show

 HP:0003042 Elbow dislocation "A dislocation affecting the elbow joint, where the radius, ulna, and humerus meet." [HPO:curators]
Show

 HP:0003063 Abnormality of the humerus "An abnormality of the humerus (i.e., upper arm bone)." [HPO:curators]
Show

 HP:0003067 Madelung deformity 
Show

 HP:0003272 Abnormality of the hip "An abnormality of the hip joint or the surrounding anatomic region." [HPO:curators]
Show

 HP:0003510 Short stature, severe "A severe degree of short stature." [HPO:curators]
Show

 HP:0003712 Muscle hypertrophy "Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells)." [HPO:curators]
Show

 HP:0004209 Clinodactyly of the 5th finger "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators]
Show

 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
Show

 HP:0005019 Diaphyseal thickening 
Show

 HP:0005026 mesomelic/rhizomelic limb shortening 
Show

 HP:0005280 Depressed nasal root and bridge 
Show

 HP:0005736 Hypoplastic tibia 
Show

 HP:0005856 Ulnar dislocation of radial heads 
Show

 HP:0005930 Abnormality of the epiphyses 
Show

 HP:0005974 Ketoacidosis, episodic 
Show

 HP:0006248 Limited wrist movement "An abnormal limitation of the mobility of the wrist." [HPO:curators]
Show

 HP:0006443 Patellar aplasia "Absence of the patella." [HPO:curators]
Show

 HP:0006459 Dorsal subluxation of ulna "Partial dislocation of the ulna in the dorsal direction." [HPO:curators]
Show

 HP:0006487 Bowing of the long bones 
Show

 HP:0006492 Aplasia/Hypoplasia of the fibula "Absence or underdevelopment of the fibula." [HPO:curators]
Show

 HP:0008873 Short stature, disproportionate short-limbed "A type of short stature characterized by a short limbs but an average-sized trunk." [HPO:curators]
Show

 HP:0009465 Ulnar deviation of fingers 
Show

 HP:0009816 Hypoplasia involving bones of the lower limbs 
Show

 HP:0009821 Hypoplasia involving forearm bones 
Show

 HP:0010579 Cone-shaped epiphyses 
Show

 HP:0010624 Aplastic/hypoplastic toenails 
Show

 HP:0100777 Exostoses 
Show

 HP:0100864 Hypoplasia of the femoral neck 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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