SIX2 - SIX homeobox 2 Gene

Homo sapiens

Gene ID: 10736 | Gene type: protein coding

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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12959	SIX2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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