SOX11 - SRY-box transcription factor 11 Gene

Also Known as CSS9; MRD27

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6664

About SOX11

Cytogenetic location: 2p25.2 Genomic coordinates (GRCh38): 2:5,692,384-5,701,385 (from NCBI)

This gene has 1 transcript (splice variant), 176 orthologues, 20 paralogues and is associated with 3 phenotypes.

Summary

This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with Other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis. [provided by RefSeq, Jul 2008]

SOX11 Products (1)

mRNA	Protein	Name
NM_003108.4	NP_003099.1	transcription factor SOX-11

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	19808959	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in negative regulation of gene expression	IMP IMP: Inferred from mutant phenotype	19808959	GOA
involved in negative regulation of glial cell proliferation	IMP IMP: Inferred from mutant phenotype	19808959	GOA
involved in negative regulation of lymphocyte proliferation	IMP IMP: Inferred from mutant phenotype	20624318	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	19808959	GOA
involved in neuron differentiation	IEP IEP: Inferred from expression pattern	10574465	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	19808959	GOA
involved in positive regulation of neuron differentiation	IMP IMP: Inferred from mutant phenotype	19808959	GOA
involved in positive regulation of ossification	IMP IMP: Inferred from mutant phenotype	20626275	GOA
involved in positive regulation of osteoblast differentiation	IMP IMP: Inferred from mutant phenotype	20626275	GOA
involved in positive regulation of stem cell proliferation	IMP IMP: Inferred from mutant phenotype	20626275	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	21124928	GOA
involved in regulation of transforming growth factor beta receptor signaling pathway	IEP IEP: Inferred from expression pattern	20624318	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
located in nucleus	IDA IDA: Inferred from direct assay	17934069	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

SOX11 Protein Structure

HMG_box

0
100
200
300
400
441 a.a.

Protein Preferred Names	Protein Names
transcription factor SOX-11	SRY (sex-determining region Y)-box 11

SOX11 Antibodies

Referencia número	Nombre del producto	Aplicación	Reactivity
HY-P80332	SOX11 Antibody (YA068)	WB, ICC/IF, IP	Human, Mouse, Rat
HY-P84279	SOX11 Antibody (YA3976)	WB, IHC-P, FC, ELISA	Human
HY-P84279A	SOX11 Antibody (YA3976)(PBS only)	WB, IHC-P, FC, ELISA	Human

Related Diseases

Diseases	Alias
Coffin-Siris Syndrome 9	Mrd27 CSS9 Mental Retardation, Autosomal Dominant 27 Autosomal Dominant Mental Retardation 27 Autosomal Dominant Non-Syndromic Intellectual Disability 27 Coffin-Siris Syndrome, Type 9
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Immunodeficiency 49	IMD49 Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities Immunodeficiency 49, Severe Combined Scid, T-Cell Negative, B-Cell Positive, Nk Cell Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities Severe Combined Immunodeficiency, T-Cell Negative, B-Cell Positive, Nk Cell Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities Scid, T-Cell-Negative, B-Cell-Positive, Nk-Cell-Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities
Charge Syndrome	Charge Association Hall-Hittner Syndrome Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies Hhs Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome CHARGES
Appendix Lymphoma	Appendiceal Lymphoma
Hypertrichosis
Burkitt Lymphoma	Burkitt'S Lymphoma BL Burkitt Lymphoma, Somatic Burkitt Lymphoma/Leukaemia Burkitt'S Tumor Burkitt'S Tumor Or Lymphoma Malignant Lymphoma, Burkitt'S Type Small Non-Cleaved Cell Lymphoma, Burkitt'S Type Small Non-Cleaved Cell Lymphoma Burkitt Tumor Burkitts Lymphoma Lymphoma, Small Noncleaved-Cell Burkitt Tumour Diffuse Small Noncleaved Malignant Burkitt Lymphoma Malignant Burkitt Lymphoma “Burkitt-Like” Lymphoma Undifferentiated Burkitt Lymphoma Small Noncleaved Cell Burkitt Lymphoma
Soft Palate Cancer	Malignant Tumor Of Soft Palate Malignant Tumor Of The Soft Palate Palate Cancer Soft Palate
Autosomal Dominant Intellectual Developmental Disorder	Autosomal Dominant Mental Retardation Autosomal Dominant Non-Syndromic Mental Retardation Autosomal Dominant Non-Syndromic Intellectual Disability Mental Retardation, Autosomal Dominant
Mantle Cell Lymphoma	Lymphoma, Mantle Cell Lcm Mcl Mantle Zone Lymphoma Lymphoma Mantle-Cell Lymphoma, Mantle-Cell Malignant Lymphoma, Lymphocytic, Intermediate Differentiation, Diffuse Malignant Lymphoma - Lymphocytic, Intermediate Differentiation Diffuse Small Cleaved-Cell Lymphoma Diffuse Small Cleaved Cell Malignant Lymphoma Small Cleaved Cell Non-Hodgkin Lymphoma Diffuse Non-Hodgkin Small Cleaved Cell Lymphoma Malignant Lymphomatous Polyposis Malignant Small Cell, Noncleaved, Diffuse Lymphoma Malignant Undifferentiated Cell, Non-Burkitt Lymphoma Cleaved Cell Lymphoma Small Cell Mantle Cell Lymphoma Small Cleaved Cell Malignant Lymphoma
Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma	Cll/Sll B-Cell Lymphocytic Leukemia/Small Lymphocytic Lymphoma Icdo:9823/3 Chronic Lymphocytic Leukaemia Of B-Cell Type Without Mention Of Remission Small Cell B-Cell Lymphoma
B-Cell Prolymphocytic Leukemia	B Cell Prolymphocytic Leukemia Prolymphocytic Leukemia, B-Cell Type B-Pll Doid:0081041 Leukemia, Prolymphocytic, B-Cell Pll- [Prolymphocytic Leukaemia] Prolymphocytic Leukaemia Prolymphocytic Leukaemia Of B-Cell Type Without Mention Of Remission
High Grade Glioma	Malignant Glioma Glial Cell Tumor Glioma, Malignant Malignant Neuroglial Tumor Neuroglial Tumor Glioma Malignant Gliomas
Clark-Baraitser Syndrome	CLABARS Baraitser Syndrome Autosomal Dominant Intellectual Disability 49 Mental Retardation, Autosomal Dominant 49, Formerly Mrd49, Formerly Intellectual Developmental Disorder, Autosomal Dominant 49 Autosomal Dominant Mental Retardation 49 Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features Mrd49 Progeria Short Stature Pigmented Nevi
Campomelic Dysplasia	Acampomelic Campomelic Dysplasia Camptomelic Dysplasia Campomelic Dysplasia With Autosomal Sex Reversal Cmpd CMD1 Cmpd1 Cmpd1/Sra1 Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal Campomelic Dwarfism Campomelic Syndrome Dysplasia, Campomelic Chronic Myeloproliferative Disorder Familial Dilated Cardiomyopathy
Medulloblastoma	MDB Cpnet Localized Primitive Neuroectodermal Tumor Classic Medulloblastoma Medulloblastoma Predisposition Syndrome Medulloblastoma, Somatic Brain Medulloblastoma Cns Pnet Infratentorial Primitive Neuroectodermal Tumor Neuroectodermal Tumors, Primitive Medulloblastomas Desmoplastic Medulloblastoma Medulloblastoma, With Extensive Nodularity Medulloblastoma Of Unspecified Site Medullomyoblastoma Of Unspecified Site
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Anterior Segment Dysgenesis	Anterior Segment Developmental Anomaly Anterior Segment Mesenchymal Dysgenesis Corneal Opacification And Other Ocular Anomalies Sclerocornea With Other Ocular Anomalies Asmd Asod Anterior Segment Ocular Dysgenesis Foxe3-Related Ocular Disorder Familial Ocular Anterior Segment Mesenchymal Dysgenesis Dysgenesis, Anterior Segment Irido-Corneal Dysgenesis Axenfeld-Rieger Syndrome, Type 3
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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 (3)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS13584	SOX11 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21764	Sox11 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28281	Sox11 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SOX11	VGNC	VGNC:106944
Macaca mulatta	SOX11	VGNC	VGNC:106223
Mus musculus	SOX11	MGD	MGI:98359
Rattus norvegicus	SOX11	RGD	RGD:69351
Others	SOX11	NCBI