SHOX - short stature homeobox Gene

中文名称：身材矮小的同源盒

种属: Homo sapiens

同用名: SS; GCFX; PHOG; SHOXY

基因 ID: 6473 | 基因类型: protein coding

关于 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.

功能概要

该基因属于配对同源盒家族，位于 X 和 Y 染色体的假常染色体区域 1 (PAR1) 。该基因的缺陷与特纳综合征患者的特发性生长迟缓和身材矮小表型有关。该基因在从哺乳动物到鱼类再到苍蝇的所有物种中高度保守。已经注意到该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2008 年 7 月]

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 基因产物(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

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: 通过直接分析推断	11751690	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP IMP: 通过突变表型推断	11751690	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	21262861	GOA
enables sequence-specific DNA binding	IDA IDA: 通过直接分析推断	11751690	GOA
enables sequence-specific DNA binding	IMP IMP: 通过突变表型推断	11751690	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: 通过直接分析推断	28473536	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: 通过突变表型推断	11751690	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SHOX 蛋白结构

Homeobox

OAR

0
100
200
292 a.a.

蛋白主名

其他名称

short stature homeobox protein

growth control factor, X-linked

SHOX 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	SHOX	O15266	SOX6	Homo sapiens	P35712	Y2H	21262861
种属内	SHOX	O15266	SOX6	Homo sapiens	P35712	Anti Tag CoIP	21262861

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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