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  2. SIX2 - SIX homeobox 2 Gene

SIX2 - SIX homeobox 2 Gene

中文名称:六个同源框 2

种属: Homo sapiens

基因 ID: 10736 | 基因类型: protein coding

关于 SIX2

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:45,005,182-45,009,452 (from NCBI)

This gene has 1 transcript (splice variant), 207 orthologues, 6 paralogues and is associated with 42 phenotypes. Biased expression in salivary gland (RPKM 4.1), prostate (RPKM 2.7) and 4 other tissues.

功能概要

该基因是脊椎动物基因家族的成员,该家族编码与果蝇“sine oculis”同源框蛋白同源的蛋白质。编码的蛋白质是一种转录因子,与该基因家族的其他成员一样,可能参与肢体或眼睛的发育。[RefSeq 提供,2008 年 12 月]

This gene is a member of the vertebrate gene family which encode proteins homologous to the Drosophila 'sine oculis' homeobox protein. The encoded protein is a transcription factor which, like other members of this gene family, may be involved in limb or eye development. [provided by RefSeq, Dec 2008]

SIX2 基因产物(1)

mRNA Protein Name
NM_016932.5 NP_058628.3 homeobox protein SIX2
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 protein binding IPI
IPI: 通过物理相互作用推断
30894749 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 cell migration IDA
IDA: 通过直接分析推断
22995329 GOA
involved in cell population proliferation IDA
IDA: 通过直接分析推断
22995329 GOA
involved in kidney development IMP
IMP: 通过突变表型推断
18305125 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

SIX2 蛋白结构

Homeobox

Homeobox: Homeobox domain (130 - 180)

  • 0
  • 100
  • 200
  • 291 a.a.
蛋白主名 其他名称

homeobox protein SIX2

sine oculis homeobox homolog 2

SIX2 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
Intra SIX2 Q9NPC8 RELA Homo sapiens Q04206-1
Anti Tag CoIP
30894749
Intra SIX2 Q9NPC8 TLE5 Homo sapiens Q08117-2
Y2H Array
32296183
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
Six2-Related Frontonasal Dysplasia

Six2-Related Fnd

Frontonasal Dysplasia 1

Frontorhiny

Frontonasal Dysplasia

Fnd

Frontonasal Malformation

Fnm

Median Facial Cleft Syndrome

Midline Facial Cleft

FND1

Median Cleft Face Syndrome

Median Cleft Syndrome

Frontonasal Dysplasia Sequence

Median Facial Cleft

Tessier Number 0-14 And 30 Facial Cleft

Alx3-Related Frontonasal Dysplasia

Frontonasal Dysplasia Type 1

Isolated Median Cleft Face Syndrome

Doid:0081044

Doid:0081045

Dysplasia, Frontonasal, Type

Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type

Wilson-Turner Syndrome

WTS

Mrxs6

X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome

Mrxswt

Wilson-Turner X-Linked Mental Retardation Syndrome

Mental Retardation, X-Linked, Syndromic 6

Mental Retardation, X-Linked, With Gynecomastia And Obesity

Intellectual Disability, X-Linked, Syndromic 6

Intellectual Disability, X-Linked, With Gynecomastia And Obesity

Wilson Turner Intellectual Disability Syndrome

X-Linked Intellectual Disability - Gynecomastia - Obesity

Renal Hypoplasia
Branchiootic Syndrome

Bo Syndrome

Branchiootic Dysplasia

Bor

Bo Syndrome 1

Bos1

Branchiootic Syndrome 1

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

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

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

Duodenogastric Reflux
Esophageal Atresia

Tracheoesophageal Fistula

Congenital Atresia Of Esophagus

Congenital Imperforate Esophagus

Imperforate Esophagus

Oesophageal Atresia

Te Fistula

Tef

Tracheoesophageal Fistula With Or Without Esophageal Atresia

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

Hypertrophic Pyloric Stenosis

Congenital Hypertrophic Pyloric Stenosis

Pyloric Stenosis, Hypertrophic

Congenital Or Infantile Stricture Of Pylorus

Achalasia Of The Pylorus

Congenital Hypertrophy Of The Pylorus

Infantile Hypertrophy Of The Pylorus

Infantile Constriction Of The Pylorus

Congenital Stenosis Of The Pylorus

Congenital Constriction Of The Pylorus

Congenital Stricture Of The Pylorus

Infantile Hypertrophic Pyloric Stenosis

Infantile Stenosis Of The Pylorus

Infantile Stricture Of The Pylorus

Congenital Or Infantile Constriction Of Pylorus

Infantile Pyloric Obstruction

Infantile Pyloric Hypertrophy

Pylorus Achalasia

Pyloric Constriction

Infantile Pyloric Stricture

Infantile Pyloric Stenosis

Congenital Spasm Of Pylorus

Congenital Pylorospasm

Congenital Pyloric Stricture

Congenital Pyloric Spasm

Congenital Or Infantile Spasm Of Pylorus

Congenital Or Infantile Obstruction Of Pylorus

Congenital Pyloric Stenosis

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Perlman Syndrome

Nephroblastomatosis, Fetal Ascites, Macrosomia And Wilms Tumor

PRLMNS

Renal Hamartomas, Nephroblastomatosis, And Fetal Gigantism

Nephroblastomatosis Fetal Ascites Macrosomia And Wilms Tumor

Nephroblastomatosis, Fetal Ascites, Macrosomia, And Wilms Tumor

Nephroblastomatosis - Fetal Ascites - Macrosomia - Wilms Tumor

Renal Hamartomas, Nephroblastomatosis And Fetal Gigantism

Nephroblastomatosis-Fetal Ascites-Macrosomia-Wilms Tumor Syndrome

Renal Hamartomas Nephroblastomatosis And Fetal Gigantism

Nephroblastoma

Fetal Macrosomia

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

Wilms Tumor 1

Nephroblastoma

Wilms Tumor

WT1

Wilms' Tumor

Bilateral Wilms Tumor

Wilms Tumor, Type 1

Wilms Tumor, Somatic

Adult Nephroblastoma

Wt1 Disorder

Renal Embryonic Tumor

Adult Kidney Wilms Tumor

Childhood Kidney Wilms Tumor

Nonanaplastic Kidney Wilms Tumor

Vesicoureteral Reflux

Vesico-Ureteral Reflux

Syndromic Intellectual Disability
Hydronephrosis

Stricture Of Ureteropelvic Junction With Hydronephrosis

Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified

Congenital Ptosis

Congenital Blepharoptosis

Congenital Eyelid Ptosis

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Cystic Kidney Disease

Renal Cyst

Simple Renal Cyst

Kidney Cysts

Kidney Diseases, Cystic

Renal Cysts

Kidney Cyst

Cystic Kidney

Congenital Cystic Kidney Disease

Cystic Kidney Diseases

Bosniak 1 Cyst

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome

Meckel Syndrome

Dysencephalia Splanchnocystica

Meckel Syndrome 1

MKS1

Mks

Gruber Syndrome

Meckel-Gruber Syndrome, Type 1

Mes

Dysencephalia Splachnocystica

Meckel Gruber Syndrome

Meckel Syndrome Type 1

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type

Adpkd

Polycystic Kidney Diseases

Polycystic Kidney, Autosomal Dominant

Congenital Biliary Ectasias

Polycystic Kidney And Hepatic Disease 1

Polycystic Kidney Disease, Autosomal Dominant

Kidney, Polycystic, Disease, Autosomal Dominant

Adult Polycystic Kidney Disease

Polycystic Kidney, Adult Type

Apckd - [Autosomal Polycystic Kidney Disease]

Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

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
Rattus norvegicus SIX2 RGD RGD:1310792
Bos taurus SIX2 VGNC VGNC:34639
Macaca mulatta SIX2 VGNC VGNC:81570
Felis catus SIX2 VGNC VGNC:65164
Canis familiaris SIX2 VGNC VGNC:46191
Mus musculus SIX2 MGD MGI:102778