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  2. SATB2 - SATB homeobox 2 Gene

SATB2 - SATB homeobox 2 Gene

中文名称:SATB 同源框 2

种属: Homo sapiens

同用名: GLSS

基因 ID: 23314 | 基因类型: protein coding

关于 SATB2

Cytogenetic location: 2q33.1 Genomic coordinates (GRCh38): 2:199,269,500-199,471,266 (from NCBI)

This gene has 18 transcripts (splice variants), 263 orthologues, 1 paralogue and is associated with 5 phenotypes. Biased expression in colon (RPKM 13.7), brain (RPKM 6.3) and 7 other tissues.

功能概要

该基因编码一种特异性结合核基质附着区的 DNA 结合蛋白。编码的蛋白质参与转录调控和染色质重塑。该基因的缺陷与孤立的腭裂和认知障碍有关。交替剪接导致编码相同蛋白质的多个转录变体。[RefSeq 提供,2010 年 2 月]

This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated with isolated cleft palate and cognitive disability. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Feb 2010]

SATB2 基因产物(3)

mRNA Protein Name
NM_001172509.2 NP_001165980.1 DNA-binding protein SATB2
NM_001172517.1 NP_001165988.1 DNA-binding protein SATB2
NM_015265.4 NP_056080.1 DNA-binding protein SATB2
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
22825848 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
22825848 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20829881 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 IDA
IDA: 通过直接分析推断
22825848 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

SATB2 蛋白结构

CUT

CUT: CUT domain (355 - 437)

CUT

CUT: CUT domain (479 - 559)

Homeobox

Homeobox: Homeobox domain (616 - 671)

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

DNA-binding protein SATB2

SATB family member 2

SATB2 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
SATB2 Q9UPW6 POLR2J3 Homo sapiens Q9H1A7
Y2H Array
32296183
种属内
SATB2 Q9UPW6 POLR2J3 Homo sapiens Q9H1A7
Y2H Prey Pooling
32296183
种属内
SATB2 Q9UPW6 TP63 Homo sapiens Q9H3D4-2
Anti Bait CoIP
20829881
种属内
SATB2 Q9UPW6 TP63 Homo sapiens Q9H3D4-2
Anti Tag CoIP
20829881
种属内
SATB2 Q9UPW6 RAB3IL1 Homo sapiens Q8TBN0
Y2H Prey Pooling
25416956
种属内
SATB2 Q9UPW6 RAB3IL1 Homo sapiens Q8TBN0
Y2H Array
25416956
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
Glass Syndrome

Chromosome 2q32-Q33 Deletion Syndrome

Satb2-Associated Syndrome

2q33.1 Microdeletion Syndrome

Sas

2q32-Q33 Microdeletion Syndrome

2q32q33 Microdeletion Syndrome

Monosomy 2q32

Monosomy 2q32-Q33

Monosomy 2q32q33

2q32 Deletion Syndrome

Del(2)(Q32)

Del(2)(Q32q33)

GLASS

2q32q33 Microdeletion Syndromes

Satb2 Syndrome

Satb2-Associated Syndrome Due To A Chromosomal Rearrangement

Del(2)(Q33.1)

Monosomy 2q33.1

Satb2-Associated Syndrome Due To A Pathogenic Variant

Satb2-Associated Syndrome Due To A Point Mutation

Satb2 Associated Disorder

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Aceruloplasminemia

Cerebellar Ataxia

Hypoceruloplasminemia

Hemosiderosis, Systemic, Due To Aceruloplasminemia

Familial Apoceruloplasmin Deficiency

Hereditary Ceruloplasmin Deficiency

Deficiency Of Ferroxidase

Hypoceruloplasminemia, Hereditary

Ceruloplasmin Deficiency

Systemic Hemosiderosis Due To Aceruloplasminemia

ACERULOP

Appendix Adenocarcinoma

Cystadenocarcinoma

Mucinous Adenocarcinoma

Adenocarcinoma Of Appendix

Appendiceal Adenocarcinoma

Adenocarcinoma Of The Appendix

Colonic Type Adenocarcinoma

Nonmucinous Adenocarcinoma

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Extraosseous Osteosarcoma

Extraskeletal Osteosarcoma

Extraskeletal Osteogenic Sarcoma

Appendiceal Neoplasm

Appendix Neoplasm

Neoplasm Of Appendix

Appendiceal Neoplasms

Appendiceal Cancer

Appendix Cancer

Malignant Neoplasm Of Appendix Vermiformis

Malignant Tumour Of Appendix

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Fibroma
Gallbladder Signet Ring Cell Adenocarcinoma

Signet Ring Cell Carcinoma Of The Gallbladder

Atypical Polypoid Adenomyoma
Small Cell Osteogenic Sarcoma

Small Cell Osteosarcoma

Round Cell Osteosarcoma

Osteosarcoma Small Cell

Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

Ovarian Mucinous Neoplasm

Ovarian Mucinous Tumor

Malignant Ovarian Mucinous Neoplasm

Mucinous Tumor Of Ovary

Malignant Ovarian Mucinous Tumor

Ovarian Mucinous Adenocarcinoma

Mucinous Carcinoma Of Ovary

Peripheral Osteosarcoma

Surface Osteosarcoma

Bone Surface Osteosarcoma

Mucinous Cystadenocarcinoma Of Pancreas

Pancreatic Mucinous Cystadenocarcinoma

Mucinous Cystadenocarcinoma Of The Pancreas

Pancreatic Colloid Cystadenocarcinoma

Conventional Osteosarcoma

Intracortical Osteosarcoma

Conventional Central Osteosarcoma

Intracortical Osteogenic Sarcoma

Medullary Osteosarcoma

Cornelia De Lange Syndrome 2

CDLS2

Cornelia De Lange Syndrome, X-Linked

Cdls, X-Linked

Cornelia De Lange Syndrome X-Linked

Cornelia De Lange Syndrome, Type 2

Congenital Muscular Hypertrophy-Cerebral Syndrome

Krukenberg Carcinoma

Krukenberg Tumor

Krukenberg Neoplasm

Krukenberg'S Tumor

Chondroblastic Osteosarcoma

Chondrosarcomatous Osteogenic Sarcoma

Fibrosarcomatous Osteosarcoma

Fibroblastic Osteosarcoma

Fibrosarcomatous Osteogenic Sarcoma

Parosteal Osteosarcoma

Juxtacortical Osteosarcoma

Parosteal Osteogenic Sarcoma

Osteosarcoma, Juxtacortical

Appendix Cancer

Appendiceal Neoplasms

Cancer Of The Appendix

Malignant Neoplasm Of Appendix Vermiformis

Malignant Tumor Of Appendix

Malignant Tumor Of The Appendix

Malignant Neoplasm Of Appendix

Carcinoma Of The Appendix

Appendix Disease

Disorder Of Appendix

Periosteal Osteogenic Sarcoma

Periosteal Osteosarcoma

Parosteal Osteosarcoma

Osteoblastoma
Bone Osteosarcoma

Osteosarcoma Of Bone

Primary Osteosarcoma Of Bone

Kidney Sarcoma

Renal Sarcoma

Sarcoma Of Kidney

Rett Syndrome

Atypical Rett Syndrome

RTT

Rett Disorder

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant

Pancreatic Cystadenocarcinoma

Cystadenocarcinoma Of Pancreas

Kidney Clear Cell Sarcoma

Clear Cell Sarcoma Of Kidney

Childhood Kidney Clear Cell Sarcoma

Renal Clear Cell Sarcoma

Ccsk

Clear Cell Sarcoma Of The Kidney

Malignant Giant Cell Tumor

Malignant Tumor, Giant Cell Type

Malignant Giant Cell Neoplasm

Bone Benign Neoplasm
Myositis Ossificans

Myisitis Ossificans

Ossification - Muscle

Ossifying Fibroma

Peripheral Ossifying Fibroma

Fibro-Osteoma

Fibroma Ossifying

Fibroma, Ossifying

Autosomal Dominant Intellectual Developmental Disorder 31

Autosomal Dominant Non-Syndromic Intellectual Disability 31

Autosomal Dominant Mental Retardation 31

Mrd31

Bone Giant Cell Tumor

Giant Cell Tumor Of Bone

Osteoclastoma

Gct Of Bone

Bone Giant Cell Tumour

Giant Cell Myeloma

Giant Cell Neoplasm Of Bone

Giant Cell Tumour Of Bone

Orofacial Cleft

Cleft, Orofacial

Stereotypic Movement Disorder

Stereotypy Habit Disorder

Stereotyped Repetitive Movements

Stereotyped Disorder

Stereotypes Nos

Stereotype Habit Disorder

Chromosomal Deletion Syndrome
Colorectal Adenocarcinoma

Adenocarcinoma Of Large Intestine

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Scoliosis
Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

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 SATB2 VGNC VGNC:45876
Bos taurus SATB2 VGNC VGNC:34299
Macaca mulatta SATB2 VGNC VGNC:99401
Rattus norvegicus SATB2 RGD RGD:1562369
Mus musculus SATB2 MGD MGI:2679336