SHOX - short stature homeobox Gene

Also Known as SS; GCFX; PHOG; SHOXY

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6473

About SHOX

Cytogenetic location: Xp22.33 Genomic coordinates (GRCh38): X:624,344-659,411 (from NCBI)

This gene has 4 transcripts (splice variants), 186 orthologues, 50 paralogues and is associated with 8 phenotypes. Low expression observed in reference dataset.

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 patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

SHOX Products (2)

mRNA	Protein	Name
NM_000451.4	NP_000442.1	short stature homeobox protein isoform SHOXa
NM_006883.2	NP_006874.1	short stature homeobox protein isoform SHOXb

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	11751690	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP IMP: Inferred from mutant phenotype	11751690	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21262861	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	11751690	GOA
enables sequence-specific DNA binding	IMP IMP: Inferred from mutant phenotype	11751690	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	11751690	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SHOX Protein Structure

Homeobox

OAR

0
100
200
292 a.a.

Protein Preferred Names	Protein Names
short stature homeobox protein	growth control factor, X-linked

SHOX Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SHOX	O15266	SOX6	Homo sapiens	P35712	Y2H	21262861
Intra	SHOX	O15266	SOX6	Homo sapiens	P35712	Anti Tag CoIP	21262861

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Leri-Weill Dyschondrosteosis	LWD Dyschondrosteosis Dco Léri-Weill Dyschondrosteosis Leri Weill Dyschondrosteosis Leri-Weill Syndrome Leri-Weil Syndrome Dyschondrosteosis, Leri-Weill
Langer Mesomelic Dysplasia	LMD Dyschondrosteosis, Homozygous Mesomelic Dwarfism Of The Hypoplastic Ulna, Fibula, And Mandible Type Langer Mesomelic Dysplasia Syndrome Mesomelic Dwarfism Of The Hypoplastic Ulna, Fibula And Mandible Type Dyschondrosteosis Homozygous Langer Mesomelic Dwarfism Mesomelic Dwarfism, Langer Type Dysplasia, Mesomelic, Langer
Short Stature, Idiopathic, X-Linked	ISS Short Stature, Idiopathic Familial Stature, Short, Idiopathic Familial
Shox-Related Short Stature	Idiopathic Familial Short Stature
Turner Syndrome	Monosomy X Gonadal Dysgenesis Turner Type Ullrich-Turner Syndrome Bonnevie-Ullrich Syndrome Karyotype 45, X Genital Dwarfism, Turner Type Gonadal Dysgenesis 45,X Turner'S Syndrome Gonadal Dysgenesis - Turner Monosomy X Syndrome Xo Syndrome Genital Dwarfism 45, X Syndrome Bonnevie-Ulrich Syndrome Chromosome X Monosomy X Schereshevkii Turner Syndrome Turner Varny Syndrome Ts 45,X Syndrome 45,X/46,Xx Syndrome Turners Syndrome Gonadal Dysgenesis, 45,X X0 Syndrome
Madelung Deformity	Madelungs Deformity
Hypochondroplasia	HCH Hypochondrodysplasia Chondrogenesis Imperfecta Hypochondroplastic Dwarfism Hypochondroplastic Short Stature
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Shox Deficiency Disorders
Eunuchism
Mesomelic Dysplasia, Kantaputra Type	Mdk MMDK Mesomelic Dysplasia, Thai Type Kantaputra Mesomelic Dysplasia Mesomelic Dysplasia With Ankle, Carpal, And Tarsal Synostosis Mesomelic Dysplasia Kantaputra Type Mesomelic Dysplasia Thai Type Mesomelic Dysplasia With Ankle Carpal And Tarsal Synostosis
Blount'S Disease	Blount Disease Tibia Vara Osteochondrosis Deformans Tibiae Osteochondrosis Deformans Tibiae, Familial Infantile Type Familial Infantile Type Osteochondrosis Deformans Tibiae Blount-Barber Syndrome Erlacher-Blount Syndrome Infantile Tibia Vara Tibia Vara Blount Blount Disease, Infantile
Achondroplasia	Achondroplastic Dwarfism ACH Osteosclerosis Congenita Achondroplastic Physique Chondrodystrophia Dwarf, Achondroplastic Achondroplastic Short Stature Congenital Osteosclerosis
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Spondyloepiphyseal Dysplasia, Kimberley Type	SEDK Spondyloepiphyseal Dysplasia Kimberley Type Spondyloepiphyseal Dysplasia Type Kimberley Dysplasia, Spondyloepiphyseal, Kimberley Type
Isolated Growth Hormone Deficiency, Type Ia	Ighd Ia Primordial Dwarfism Isolated Growth Hormone Deficiency Type Ia Sexual Ateleiotic Dwarfism Pituitary Dwarfism I IGHD1A Illig-Type Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, Type Ia Congenital Ighd Type Ia Congenital Isolated Gh Deficiency Type Ia Congenital Isolated Growth Hormone Deficiency Type Ia Pituitary Dwarfism 1 Growth Hormone Deficiency, Isolated, Autosomal Recessive Autosomal Recessive Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 1a Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Autosomal Recessive Illig Type Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, 1a Growth Hormone Deficiency Isolated Autosomal Recessive Dwarfism, Primordial Dwarfism
Acromesomelic Dysplasia 1	Acromesomelic Dysplasia, Maroteaux Type Amdm Acromesomelic Dysplasia 1, Maroteaux Type AMD1 St. Helena Dysplasia Acromesomelic Dysplasia-1 Acromesomelic Dysplasia Maroteaux Type Acromesomelic Dwarfism Maroteux Type Dysplasia, Acromesomelic, Type 1, Maroteaux Acromesomelic Dysplasia Hunter-Thompson Type
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Spondylometaphyseal Dysplasia Strudwick Syndrome Dappled Metaphysis Syndrome Semd, Strudwick Type Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type Smed, Strudwick Type Smd Smed Strudwick Type SEMDSTWK Smed, Type I Semdc Smed Type 1 Spondyloepimetaphyseal Dysplasia Strudwick Type Sed Strudwick Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type Smed Type I Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses Dysplasia, Spondyloepimetaphyseal, Strudwick Type Dysplasia, Spondylometaphyseal
Raynaud-Claes Syndrome	Mrx49 MRXSRC Mental Retardation, X-Linked 49 Mrx15 Clcn4-Related X-Linked Intellectual Disability Syndrome Mental Retardation, X-Linked 15 X-Linked Mental Retardation 15 X-Linked Mental Retardation 49 Mental Retardation, X-Linked-49
Phelan-Mcdermid Syndrome	Chromosome 22q13.3 Deletion Syndrome 22q13.3 Deletion Syndrome Telomeric 22q13 Monosomy Syndrome PHMDS Deletion 22q13 Syndrome 22q13.3 Deletion Deletion 22q13.3 Syndrome Monosomy 22q13 Monosomy 22q13.3 22q13 Deletion Syndrome Monosomy 22q13 Syndrome 22q13 Deletion Chromosome Deletion
Bone Development Disease
Acromesomelic Dysplasia	Acromesomelic Dwarfism Dysplasia, Acromesomelic Acromesomelic Dysplasia Hunter-Thompson Type
Cerebral Hemisphere Lipoma	Lipoma Of The Cerebral Hemisphere
Corpus Callosum Lipoma	Lipoma Of The Corpus Callosum Lipoma Of Corpus Callosum
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Murcs Association Mayer-Rokitansky-Kuster-Hauser Syndrome Type 2 Mrkh Syndrome Type 2 Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 MURCS Klippel-Feil Deformity, Conductive Deafness, And Absent Vagina Atypical Mrkh Syndrome Mullerian Duct Aplasia-Renal Dysplasia-Cervical Somite Anomalies Syndrome Mayer-Rokitansky-Kuster-Hauser Syndrome, Type Ii Mrkh, Type Ii Mullerian Duct Aplasia, Unilateral Renal Aplasia, And Cervicothoracic Somite Dysplasia Klippel-Feil Deformity - Conductive Deafness - Absent Vagina Müllerian Aplasia - Renal Aplasia - Cervicothoracic Somite Dysplasia
Hypogonadotropic Hypogonadism	Klinefelter Syndrome Klinefelter'S Syndrome Xxy Syndrome Xxy Trisomy Hypogonadotropism 47, Xxy Congenital Idiopathic Hypogonadotropic Hypogonadism Isolated Congenital Gonadotropin Deficiency 47,Xxy Syndrome 47, Xxy Syndrome Klinefelters Syndrome Hypogonadism Klinefelter Syndrome In Males Klinefelter Syndrome, Unspecified Klinefelter Syndrome Karyotype 47, Xxy
Mayer-Rokitansky-Kuster-Hauser Syndrome	Mrkh Syndrome Rokitansky Syndrome Mullerian Aplasia Mrkh Anomaly Congenital Absence Of Uterus And Vagina Congenital Absence Of The Uterus And Vagina Genital Renal Ear Syndrome Mayer-Rokitansky-Küster-Hauser Syndrome Mullerian Dysgenesis Müllerian Agenesis Rokitansky Kuster Hauser Syndrome MRKH Mullerian Aplasia/Dysgenesis Von Mayer-Rokitansky-Kuster Anomaly Mrk Anomaly Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida Cauv Mullerian Agenesis Aplasia Of The Mullerian Ducts Mullerian Duct Failure Müllerian Aplasia Rokitansky-Kuster-Hauser Syndrome RKH SYNDROME
Scoliosis
Clubfoot	Congenital Talipes Equinovarus Congenital Clubfoot Congenital Equinovarus Equinovarus Deformity Of Foot Club Foot
Eiken Syndrome	Eiken Skeletal Dysplasia Bone Modeling Defect Of Hands And Feet EKNS
Mixed Gonadal Dysgenesis	Gonadal Dysgenesis Mixed Gonadal Dysgenesis, Mixed
Chondrodysplasia Punctata Syndrome	Chondrodysplasia Punctata Chondrodysplasia Punctata Congenita Toriello Higgins Miller Syndrome Chondrodysplasia Punctata, Toriello Type Toriello-Higgins-Miller Syndrome Cdp Chondrodysplasia Punctata, X-Linked Dominant Type Chondrodysplasia Punctata Group Dysplasia Punctata Epiphysis Dysplasia Punctata Dysplasia Epiphysealis Punctata Chondrodystrophy Of Punctata
Disorder Of Sexual Development	Disorder Of Sex Development Disorders Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Sex Differentiation Disorders
Gonadal Dysgenesis	Gonadal Dysgenesis Syndrome Turner Syndrome
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Thanatophoric Dysplasia, Type I	Thanatophoric Dysplasia Thanatophoric Dwarfism Thanatophoric Dysplasia Type 1 TD1 Td Thanatophoric Short Stature Thanatophoric Dwarfism Type 1 Thanatophoric Dysplasia Type I Platyspondylic Lethal Skeletal Dysplasia, San Diego Type Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type Skeletal Dysplasia, San Diego Type Plsd San Diego Type Thanatophoric Dwarfism 1 Dwarfism Thanatophoric Dwarf, Thanatophoric Thanatophoric Dysplasia 1 Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type Platyspondylic Lethal Skeletal Dysplasia San Diego Type Thanatophoric Dwarf Thanatophoric Dwarfism Or Short Stature Thanatophoric Dwarfism Syndrome Td - [Thanatophoric Dwarfism]
Three M Syndrome 1	3-M Syndrome Yakut Short Stature Syndrome 3m Syndrome Le Merrer Syndrome Dolichospondylic Dysplasia Gloomy Face Syndrome Three M Syndrome 3M1 3m Syndrome 1 Miller-Mckusick-Malvaux Syndrome 3-Msbn Three-M Slender-Boned Nanism Miller-Mckusick-Malvaux-Syndrome 3-M Syndrome 1 3m Syndrome-1 3m Syndrome, Type 1 Dwarfism Dwarfism Tall Vertebrae
Chromosomal Duplication Syndrome
Campomelic Dysplasia	Acampomelic Campomelic Dysplasia Camptomelic Dysplasia Campomelic Dysplasia With Autosomal Sex Reversal Cmpd CMD1 Cmpd1 Cmpd1/Sra1 Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal Campomelic Dwarfism Campomelic Syndrome Dysplasia, Campomelic Chronic Myeloproliferative Disorder Familial Dilated Cardiomyopathy
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease
Silver-Russell Syndrome 1	Silver-Russell Syndrome Russell-Silver Syndrome Silver-Russell Dwarfism Rss SRS1 Srs Silver Russell Dwarfism Russell Silver Syndrome Silver Russell Syndrome
Spermatogenic Failure	Azoospermia Spgf Spermatogenic Failure, Susceptibility To Absent Sperm Aspermatogenesis Infertility Due To Azoospermia Hypospermatogenesis Azoospermatism
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Prader-Willi Syndrome	Prader-Labhart-Willi Syndrome PWS Willi-Prader Syndrome Prader-Willi Syndrome Due To Translocation Prader-Willi Syndrome Due To Imprinting Mutation Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 Prader Willi Syndrome Upd(15)Mat
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12879	SHOX Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12880	SHOX2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SHOX	VGNC	VGNC:46153
Rattus norvegicus	SHOX	RGD	RGD:1586239
Bos taurus	SHOX	VGNC	VGNC:49963