SIX6 - SIX homeobox 6 Gene

Homo sapiens

Also known as Six9; ODRMD; OPTX2; MCOPCT2

Gene ID: 4990 | Gene type: protein coding

About SIX6

Cytogenetic location: 14q23.1 Genomic coordinates (GRCh38): 14:60,509,146-60,512,850 (from NCBI)

This gene has 1 transcript (splice variant), 208 orthologues, 6 paralogues and is associated with 7 phenotypes. Low expression observed in reference dataset.

Summary

The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008]

SIX6 Products(1)

mRNA	Protein	Name
NM_007374.3	NP_031400.2	homeobox protein SIX6

SIX6 Protein Structure

Homeobox

0
100
200
246 a.a.

Protein Preferred Names

Protein Names

homeobox protein SIX6

homeodomain protein OPTX2

Related Diseases

Diseases

Alias

Optic Disc Anomalies With Retinal And/Or Macular Dystrophy

Colobomatous Optic Disc-Macular Atrophy-Chorioretinopathy Syndrome	ODRMD
Optic Disk Anomalies With Retinal And/Or Macular Dystrophy

Sclerocornea

Isolated Congenital Sclerocornea

Congenital Cornea Plana

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Microphthalmia, Syndromic 3

MCOPS3	Aeg Syndrome
Microphthalmia And Esophageal Atresia Syndrome	Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia-Esophageal-Genital Syndrome	Optic Nerve Hypoplasia And Abnormalities Of The Central Nervous System
Syndromic Microphthalmia 3	Sox2 Anophthalmia Syndrome
Anophthalmia Clinical With Associated Anomalies	Anophthalmia Esophageal Genital Syndrome
Anophthalmia Microphthalmia Esophageal Atresia	Syndromic Microphthalmia Type 3
Sox2-Related Eye Disorders	Anophthalmia, Clinical, With Associated Anomalies
Syndromic Microphthalmia, Type 3	Microphthalmia, Syndromic, 3
Anophthalmia/Microphthalmia-Esophageal Atresia	Microphthalmia Syndromic, Type 3

Isolated Microphthalmia

Nanophthalmos

Nanophthalmia

Colobomatous Microphthalmia

Anophthalmia-Microphthalmia Syndrome	Mac
Microphthalmia With Colobomatous Cyst	Microphthalmia-Anophthalmia-Coloboma Syndrome
Microphthalmia-Anophthalmia-Coloboma	Microphthalmia And Mental Deficiency

Lateral Displacement Of Eye

Lateral Displacement Of Globe

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Nystagmus 7, Congenital, Autosomal Dominant

NYS7	Congenital Nystagmus 7
Autosomal Dominant Congenital Nystagmus 7

Glaucoma, Normal Tension

Low Tension Glaucoma	Glaucoma, Normal Tension, Susceptibility To
Normal Tension Glaucoma	Ntg
Glaucoma, Normal Pressure	NPG
Glaucoma, Normal Pressure, Susceptibility To	Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]

Bardet-Biedl Syndrome 8

BBS8	Bardet-Biedl Syndrome, Type 8

Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E	Primary Open Angle Glaucoma
POAG	Adult-Onset Primary Open Angle Glaucoma
Chronic Simple Glaucoma	GLC1E
Primary Open Angle Glaucoma 1e	Glaucoma, Open Angle, Primary

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

Nystagmus 3, Congenital, Autosomal Dominant

NYS3	Congenital Nystagmus 3
Autosomal Dominant Congenital Nystagmus 3

Pituitary Hypoplasia

Hypoplasia Of The Pituitary Gland

Branchiootic Syndrome

Bo Syndrome	Branchiootic Dysplasia
Bor	Bo Syndrome 1
Bos1	Branchiootic Syndrome 1

Ocular Pigment Dispersion With Or Without Glaucoma

Pigment Dispersion Syndrome	Glaucoma-Related Pigment Dispersion Syndrome
OPDG	Pds
Glaucoma, Pigment-Dispersion Type	Gpds1
Pigment-Dispersion Type Glaucoma	Pigment-Dispersion Syndrome
Glaucoma, Open-Angle

Myopia

Near-Sightedness	Short-Sightedness
Nearsightedness	Nearsighted
Near Vision	Close Sighted
Myopic	Short-Sighted
Near Sighted

Open-Angle Glaucoma

Glaucoma Simplex	Pigmentary Glaucoma
Wide-Angle Glaucoma	Glaucoma, Open-Angle
Open Angle Glaucoma	Glaucoma Open-Angle
Chronic Simple Glaucoma	Coag - [Chronic Open-Angle Glaucoma]
Csg - [Chronic Simple Glaucoma]	Poag - [Primary Open-Angle Glaucoma]
Oag - [Open-Angle Glaucoma]	Chronic Glaucoma
Chronic Open Angle Glaucoma	Simple Glaucoma
Chronic Noncongestive Glaucoma	Ltg - [Low Tension Glaucoma]
Noncongestive Glaucoma	Nonobstructive Glaucoma
Normal Pressure Glaucoma	Primary Low Tension Glaucoma
Low-Tension Glaucoma	Residual Stage Low Tension Glaucoma
Open Cleft Glaucoma

Intraocular Pressure Quantitative Trait Locus

Glaucoma	IOPQTL
Glaucoma, Susceptibility To	Postinfectious Glaucoma
Glaucoma With Ocular Inflammation	Glaucoma Secondary To Eye Inflammation
Traumatic Glaucoma	Glaucoma With Concussion Of Globe
Glaucoma Due To Ocular Trauma	Glaucoma Associated With Ocular Trauma
Glaucoma Secondary To Drugs

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

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

Septooptic Dysplasia

Septo-Optic Dysplasia	De Morsier Syndrome
Growth Hormone Deficiency With Pituitary Anomalies	SOD
Pituitary Hormone Deficiency, Combined, 5	Septo-Optic Dysplasia Spectrum
Septo-Optic Dysplasia With Growth Hormone Deficiency	Pituitary Hormone Deficiency, Combined 5
Hypopituitarism And Septooptic 'Dysplasia'	GHDPA
CPHD5	Dysplasia, Septo-Optic
Kallmann Syndrome

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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-RS12963	SIX6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SIX6	RGD	RGD:1310497
Canis familiaris	SIX6	VGNC	VGNC:51685
Bos taurus	SIX6	VGNC	VGNC:34642
Mus musculus	SIX6	MGD	MGI:1341840
Felis catus	SIX6	VGNC	VGNC:65166

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