SATB2 - SATB homeobox 2 Gene

Homo sapiens

Also known as GLSS

Gene ID: 23314 | Gene type: protein coding

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	Reference	Source
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	Reference	Source
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

Related Diseases

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12458	SATB2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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