SATB2 - SATB homeobox 2 Gene

Also Known as GLSS

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 23314

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	参考文献	由来
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	22825848	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	22825848	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20829881	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	22825848	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

SATB2 Protein Structure

CUT

Homeobox

0
200
400
600
733 a.a.

Protein Preferred Names	Protein Names
DNA-binding protein SATB2	SATB family member 2

SATB2 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	SATB2	Q9UPW6	POLR2J3	Homo sapiens	Q9H1A7	Y2H Array	32296183
Intra	SATB2	Q9UPW6	POLR2J3	Homo sapiens	Q9H1A7	Y2H Prey Pooling	32296183
Intra	SATB2	Q9UPW6	TP63	Homo sapiens	Q9H3D4-2	Anti Bait CoIP	20829881
Intra	SATB2	Q9UPW6	TP63	Homo sapiens	Q9H3D4-2	Anti Tag CoIP	20829881
Intra	SATB2	Q9UPW6	RAB3IL1	Homo sapiens	Q8TBN0	Y2H Prey Pooling	25416956
Intra	SATB2	Q9UPW6	RAB3IL1	Homo sapiens	Q8TBN0	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

SATB2 抗体

製品番号	製品名	アプリケーション	反応性
HY-P80958	SATB2 Antibody (YA842)	WB, ICC/IF, IHC-P, FC	Human, Mouse, Rat
HY-P84882	SATB2 Antibody (YA4579)	IHC-P, FC, ELISA	Human
HY-P84882A	SATB2 Antibody (YA4579)(PBS only)	IHC-P, FC, ELISA	Human
HY-P86093	SATB2 Antibody (YA5785)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

関連疾患

Diseases	Alias
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

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 (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS12458	SATB2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	SATB2	NCBI