SIX2 - SIX homeobox 2 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10736

About 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.

Summary

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 Products (1)

mRNA	Protein	Name
NM_016932.5	NP_058628.3	homeobox protein SIX2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	30894749	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cell migration	IDA IDA: Inferred from direct assay	22995329	GOA
involved in cell population proliferation	IDA IDA: Inferred from direct assay	22995329	GOA
involved in kidney development	IMP IMP: Inferred from mutant phenotype	18305125	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

SIX2 Protein Structure

Homeobox

0
100
200
291 a.a.

Protein Preferred Names	Protein Names
homeobox protein SIX2	sine oculis homeobox homolog 2

SIX2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SIX2	Q9NPC8	RELA	Homo sapiens	Q04206-1	Anti Tag CoIP	30894749
Intra	SIX2	Q9NPC8	TLE5	Homo sapiens	Q08117-2	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

SIX2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86363	SIX2 Antibody (YA6055)	WB, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12959	SIX2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19955	Six2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26457	Six2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	SIX2	NCBI