1. Gene
  2. SIX5 - SIX homeobox 5 Gene

SIX5 - SIX homeobox 5 Gene

中文名称:六个同源框 5

种属: Homo sapiens

同用名: BOR2; DMAHP

基因 ID: 147912 | 基因类型: protein coding

关于 SIX5

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:45,764,785-45,769,252 (from NCBI)

This gene has 3 transcripts (splice variants), 264 orthologues, 6 paralogues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 8.6), prostate (RPKM 7.4) and 24 other tissues.

功能概要

由该基因编码的蛋白质是一种含有同源结构域的转录因子,似乎在器官发生的调节中发挥作用。该基因位于肌强直性营养不良蛋白激酶基因的下游。该基因的突变是 2 型鳃肾综合征的原因。[RefSeq 提供,2009 年 7 月]

The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009]

SIX5 基因产物(1)

mRNA Protein Name
NM_175875.5 NP_787071.3 homeobox protein SIX5
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
16713569 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

SIX5 蛋白结构

Homeobox

Homeobox: Homeobox domain (208 - 257)

  • 0
  • 200
  • 400
  • 600
  • 739 a.a.
蛋白主名 其他名称

homeobox protein SIX5

DM locus-associated homeodomain protein

SIX5 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
SIX5 Q8N196 ATXN1 Homo sapiens P54253
Y2H
16713569
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
Branchiootorenal Syndrome 2

BOR2

Bor Syndrome 2

Branchiootorenal Dysplasia 2

Branchio-Oto-Renal Dysplasia 2

Branchio-Oto-Renal Syndrome Type 2

Branchiootorenal Syndrome, Type 2

Branchiootorenal Syndrome

Branchio-Oto-Renal Syndrome

Bor Syndrome

Branchiootorenal Dysplasia

Melnick-Fraser Syndrome

Branchiootorenal Spectrum Disorders

Branchio-Otorenal Dysplasia

Branchio Oto Renal Syndrome

Branchiootorenal/Branchiootic Syndrome

Bo Syndrome

Bor

Bos

Branchio-Otorenal Syndrome

Branchiootic Syndrome

Branchiootorenal Syndrome

Branchiootic Syndrome 1

Atrophy Of Testis

Atrophic Testicle

Atrophy Of Testicle

Testicular Atrophy

Myotonic Dystrophy 1

Myotonic Dystrophy

Dystrophia Myotonica

Steinert Disease

Myotonic Dystrophy Type 1

Myotonia Atrophica

DM1

Congenital Myotonic Dystrophy

Myotonia Dystrophica

Steinert Myotonic Dystrophy

Dystrophia Myotonica 1

Dm

Steinert'S Disease

Steinert Myotonic Dystrophy Syndrome

Myotonic Dystrophy Of Steinert

Dystrophia Myotonica Type 1

Myotonic Dystrophy Congenital

Dystrophy, Myotonic, Type 1

Dm - [Dystrophia Myotonica]

Myotonic Muscular Dystrophy

Branchiootic Syndrome

Bo Syndrome

Branchiootic Dysplasia

Bor

Bo Syndrome 1

Bos1

Branchiootic Syndrome 1

Adult Acute Monocytic Leukemia

Adult Acute Monoblastic And Acute Monocytic Leukemia

Patulous Eustachian Tube

Pet

Myotonic Disease

Myotonic Disorders

Myotonic Syndrome

Symptomatic Myotonia

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Papillorenal Syndrome

Renal Coloboma Syndrome

Coloboma Of Optic Nerve With Renal Disease

Renal-Coloboma Syndrome

Optic Nerve Coloboma With Renal Disease

Optic Coloboma, Vesicoureteral Reflux, And Renal Anomalies

Renal-Coloboma Syndrome With Macular Abnormalities

Congenital Anomalies Of The Kidney And Urinary Tract With Or Without Ocular Abnormalities

Cakut With Or Without Ocular Abnormalities

PAPRS

Optic Coloboma, Vesicoureteral Reflux And Renal Anomalies

Papillo-Renal Syndrome, Optic Nerve Coloboma With Renal Disease

Coloboma-Ureteral-Renal Syndrome

Oncr

Optic Nerve Coloboma Renal Syndrome

Rcs

Papillo-Renal Syndrome

Optic Coloboma Vesicoureteral Reflux And Renal Anomalies

Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct

Enlarged Vestibular Aqueduct

DFNB4

Neurosensory Nonsyndromic Recessive Deafness 4

Enlarged Vestibular Aqueduct Syndrome

Nsrd4

Autosomal Recessive Nonsyndromic Deafness 4

Dilated Vestibular Aqueduct

Dva

Enlarged Vestibular Aqueduct, Digenic

Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct

Large Vestibular Aqueduct Syndrome

Deafness, Autosomal Recessive, 4

Deafness Neurosensory Autosomal Recessive 4

Eva

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4

Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct

Myotonic Dystrophy 2

Myotonic Dystrophy Type 2

Proximal Myotonic Myopathy

Promm

Ricker Syndrome

DM2

Dystrophia Myotonica 2

Myotonic Myopathy, Proximal

Myotonic Disorders

Dystrophia Myotonica Type 2

Proximal Myotonic Dystrophy

Ricker Disease

Myotonic Dystrophy, Type 2

Dystrophy, Myotonic, Type 2

Lacrimal Duct Obstruction

Blocked Lacrimal Canaliculus

Obstruction Of Lacrimal Canaliculus

Obstruction Of Lacrimal Ducts

Townes-Brocks Syndrome

Townes Syndrome

Renal-Ear-Anal-Radial Syndrome

Anus, Imperforate, With Hand, Foot And Ear Anomalies

Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome

Rear Syndrome

Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs

Tbs

Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs

Imperforate Anus With Hand, Foot And Ear Anomalies

Anal-Ear-Renal-Radial Malformation Syndrome

Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

Imperforate Anus-Hand And Foot Anomalies Syndrome

Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs

Fragile X Syndrome

FXS

Martin-Bell Syndrome

Fraxa Syndrome

Marker X Syndrome

X-Linked Mental Retardation And Macroorchidism

Fragile X Mental Retardation Syndrome

Fra Syndrome

Mental Retardation, X-Linked, Associated With Marxq28

X-Linked Intellectual Disability And Macroorchidism

Frax Syndrome

Symptomatic Form Of Fragile X Syndrome In Female Carriers

Fragile-X Syndrome

Fraxe Syndrome

Eustachian Tube Disease

Eustachian Tube Disorder

Auditory Tube Disorder

Disease Of Eustachian Tube

Eustachian Tube Dysfunction

Et- [Eustachian Tube Disorder]

Etd - [Eustachian Tube Dysfunction]

Congenital Anomalies Of Kidney And Urinary Tract 2

CAKUT2

Ureteropelvic Junction Obstruction

Multicystic Renal Dysplasia, Bilateral

Pelviureteric Junction Obstruction

Pujo

Hydronephrosis Due To Pujo

Upjo

Mcrd

Congenital Anomalies Of The Kidney And Urinary Tract 2

Mrd

Pelvi-Ureteric Junction Obstruction

Kidney And Urinary Tract, Anomalies, Congenital, Type 2

Obstruction Of Pelviureteric Junction

Deafness, Autosomal Dominant 10

DFNA10

Autosomal Dominant Nonsyndromic Deafness 10

Autosomal Dominant Deafness 10

Deafness, Autosomal Dominant, 10

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 10

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 10

Deafness, Autosomal Dominant, Type 10

Renal Hypoplasia
Skin Tag

Fibroepithelial Polyp

Fibroepithelial Polyp Of Skin

Soft Fibroma

Skin Tags

Cutaneous Tag

Gardner Fibroma

Acrochordon

Fibroma Molle

Cakut

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1

Lens Disease

Lens Diseases

Vesicoureteral Reflux

Vesico-Ureteral Reflux

Renal Hypodysplasia/Aplasia 1

Renal Agenesis

Renal Adysplasia

Renal Aplasia

RHDA1

Hereditary Renal Aplasia

Hra

Hereditary Urogenital Adysplasia

Hypodysplasia/Aplasia, Renal, Type 1

Congenital Absence Of Kidneys Syndrome

Congenital Absence Of Kidney

Aplastic Kidney

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris SIX5 VGNC VGNC:53984
Mus musculus SIX5 MGD MGI:106220
Felis catus SIX5 VGNC VGNC:65165
Rattus norvegicus SIX5 RGD RGD:1305040
Bos taurus SIX5 VGNC VGNC:34641