SIX3 - SIX homeobox 3 Gene

Also Known as HPE2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6496

About SIX3

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:44,941,702-44,946,071 (from NCBI)

This gene has 1 transcript (splice variant), 249 orthologues, 6 paralogues and is associated with 11 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009]

SIX3 Products (1)

mRNA	Protein	Name
NM_005413.4	NP_005404.1	homeobox protein SIX3

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	18836447	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12543801	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA
enables transcription corepressor binding	IPI IPI: Inferred from physical interaction	12441302	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in eye development	IDA IDA: Inferred from direct assay	18791198	GOA
involved in forebrain dorsal/ventral pattern formation	IDA IDA: Inferred from direct assay	18791198	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	18791198	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

SIX3 Protein Structure

Homeobox

0
100
200
300
332 a.a.

Protein Preferred Names	Protein Names
homeobox protein SIX3	sine oculis homeobox homolog 3

SIX3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SIX3	O95343	NR4A3	Homo sapiens	Q92570	Gal4 VP16 Complement	12543801
Intra	SIX3	O95343	NR4A3	Homo sapiens	Q92570	Pull Down	12543801

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Holoprosencephaly 2	HPE2 Holoprosencephaly-2 Holoprosencephaly, Type 2
Schizencephaly	Familial Schizencephaly Acquired Schizencephaly SCHZC Schizencephalia
Solitary Median Maxillary Central Incisor	SMMCI Fused Incisors Single Upper Central Incisor Single Central Maxillary Incisor Single Median Maxillary Central Incisor Solitary Median Maxillary Central Incisor Syndrome Incisors Fused Incisors, Fused
Semilobar Holoprosencephaly
Midline Interhemispheric Variant Of Holoprosencephaly	Mih Mih Type Hpe Mihf Mihv Middle Interhemispheric Fusion Variant Middle Interhemispheric Variant Of Holoprosencephaly Syntelencephaly
Microform Holoprosencephaly	Hpe, Minor Form Hpe-L Holoprosencephaly, Minor Form Holoprosencephaly-Like Microform Hpe
Lobar Holoprosencephaly
Septopreoptic Holoprosencephaly	Septopreoptic Hpe
Alobar Holoprosencephaly
Colobomatous Microphthalmia	Anophthalmia-Microphthalmia Syndrome Mac Microphthalmia With Colobomatous Cyst Microphthalmia-Anophthalmia-Coloboma Syndrome Microphthalmia-Anophthalmia-Coloboma Microphthalmia And Mental Deficiency
Holoprosencephaly	Holoprosencephaly Sequence Hpe Hpe - [Holoprosencephaly]
Cerebral Hemisphere Lipoma	Lipoma Of The Cerebral Hemisphere
Corpus Callosum Lipoma	Lipoma Of The Corpus Callosum Lipoma Of Corpus Callosum
Anencephaly	Aprosencephaly Anencephalus Congenital Absence Of Brain Absence Of A Large Part Of The Brain And The Skull Anencephalia Anencephalic Monster Brain Absence Brain Agenesis Brain Aplasia Absent Brain Anencephalic Congenital Absence Of Cerebrum Congenital Hemicrania Incomplete Anencephaly
Holoprosencephaly 4	HPE4 Holoprosencephaly-4 Holoprosencephaly, Type 4
Holoprosencephaly, Recurrent Infections, And Monocytosis
Central Nervous System Lipoma	Lipoma Of The Cns
Holoprosencephaly 1	Arhinencephaly HPE1 Cyclopia Holoprosencephaly, Familial Alobar Hpe, Familial Hpec Demyer Sequence Holoprosencephaly-1
Holoprosencephaly 3	HPE3 Hlp3 Holoprosencephaly-3 Holoprosencephaly, Type 3
Holoprosencephaly 11	HPE11 Holoprosencephaly-11 Holoprosencephaly, Type 11
Holoprosencephaly 6	HPE6
Culler-Jones Syndrome	Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome CJS Pallister-Hall Syndrome 2, Formerly Phs2, Formerly Pallister-Hall Syndrome 2 Phs2
Holoprosencephaly 7	HPE7 Holoprosencephaly-7 Holoprosencephaly, Type 7
Patau Syndrome	Trisomy 13 Complete Trisomy 13 Syndrome Trisomy 13 Syndrome D1 Trisomy Patau'S Syndrome Complete Trisomy 13 Chromosome 13, Trisomy 13 Complete D Trisomy Syndrome Bartholin-Patau Syndrome Chromosome 13 Duplication D1 Trisomy Syndrome D>1< Trisomy Syndrome Patau Chromosome 13 Trisomy Abnormal Autosomes 13
Holoprosencephaly 8	HPE8 Holoprosencephaly-8
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
Hypopituitarism	Pituitary Hypofunction Pituitary Insufficiency Pituitary Hormone Deficiency Subpituitarism Hypophyseal Dystrophy Hypohypophysism Anterior Pituitary Insufficiency Deficient Secretion Of One Or More Pituitary Hormones Hypopituitarism Syndrome Pituitary Deficiency Pituitary Failure Pituitary Insufficiency Nos Anterior Pituitary Hypofunction Deficient Secretion Of All Pituitary Hormones Hypopituitary Dwarfism Hyposomatotropic Dwarfism Hypophyseal Dwarfism Hypopituitary Cachexia Hypophyseal Short Stature Panhypopituitarism Syndrome Pituitary Cachexia Juvenile Hypopituitarism Pituitary Dwarfism Pituitary Gland Hypofunction Primary Hypopituitarism Secondary Hypogonadism Prepubertal Panhypopituitarism Prepubertal Dwarfism Postpartum Panhypopituitary Syndrome Postpartum Hypopituitarism Pituitary Short Stature Pituitary Infantilism Pituitary Hypogonadism Pituitary Hypoadrenocorticism
Holoprosencephaly 9	Pituitary Anomalies With Holoprosencephaly-Like Features HPE9 Holoprosencephaly With Microphthalmia And First Branchial Arch Anomalies Holoprosencephaly-9 Holoprosencephaly, Type 9
Lateral Displacement Of Eye	Lateral Displacement Of Globe
Orofaciodigital Syndrome Viii	Edwards Syndrome Trisomy 18 Complete Trisomy 18 Syndrome OFD8 Orofaciodigital Syndrome 8 Trisomy 18 Syndrome Oral-Facial-Digital Syndrome With Hypoplastic Epiglottis E3 Trisomy Oral-Facial-Digital Syndrome Type 8 Orofaciodigital Syndrome Type 8 Ofds Viii Oral-Facial-Digital Syndrome, Type Viii Ofd Syndrome 8 Ofds 8 Oral Facial Digital Syndrome 8 Oral Facial Digital Syndrome Type 8 18 Trisomy Chromosome 18 Trisomy Trisomy 16-18 Trisomy E Trisomy E Syndrome Chromosome 18 Duplication Oral-Facial-Digital Syndrome, Edwards Type Orofaciodigital Syndrome, Edwards Type Chromosome 18, Trisomy Cleft Lip/Palate With Abnormal Thumbs And Microcephaly Trisomy 18 Chromosome Abnormal Autosomes 18
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
Pallister-Hall Syndrome	PHS Hypothalamic Hamartomas Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly Hypothalamic Hamartoblastoma Syndrome Hamartoma Of The Hypothalamus Pallister Hall Syndrome Hall-Pallister Syndrome Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly Hamartoma, Hypothalamic
Chromosome 18p Deletion Syndrome	18p- Syndrome De Grouchy Syndrome Monosomy 18p 18p- Chromosome 18p Deletion
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
Aniridia 1	Aniridia Congenital Aniridia AN1 An Cataract With Late-Onset Corneal Dystrophy Aplasia Of Iris Absent Iris Irideremia Aniridia Ii, Formerly An2, Formerly An2 Aniridia Type Ii Aniridia, Type 1 An-1 Absence Of Iris Agenesis Of Iris Congenital Absence Of Iris Hereditary Aniridia Sporadic Aniridia
Iris Disease	Iris Diseases
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Coloboma Of Optic Nerve	Morning Glory Disc Anomaly Coloboma Of Optic Disc Morning Glory Syndrome Ectasic Coloboma Coloboma Of Optic Papilla Congenital Coloboma Of The Optic Nerve Optic Nerve Coloboma Optic Nerve Head Pits, Bilateral Congenital Volubilis Syndrome COLON Coloboma Of Optic Disc, Unspecified Eye Congenital Coloboma Of Optic Disc Optic Disk Coloboma
Multiple Benign Circumferential Skin Creases On Limbs	Ccsf Circumferential Skin Creases, Kunze Type Congenital Circumferential Skin Folds Kunze-Riehm Syndrome Kunze Riehm Syndrome Michelin Tire Baby Syndrome
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
Smith-Lemli-Opitz Syndrome	SLOS Rsh Syndrome 7-Dehydrocholesterol Reductase Deficiency Slo Syndrome Rutledge Lethal Multiple Congenital Anomaly Syndrome Lethal Acrodysgenital Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung Smith-Opitz-Inborn Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung Smith Lemli Opitz Syndrome Smith-Lemli-Opitz Syndrome, Type Ii
Keratitis, Hereditary	Keratitis Autosomal Dominant Keratitis Hereditary Keratitis Dominantly Inherited Keratitis Keratitis Hereditary KERH
Orofacial Cleft	Cleft, Orofacial
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
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
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
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12960	SIX3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21433	Six3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27951	Six3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SIX3	VGNC	VGNC:34640
Rattus norvegicus	SIX3	RGD	RGD:620909
Macaca mulatta	SIX3	VGNC	VGNC:106218
Felis catus	SIX3	VGNC	VGNC:81220
Mus musculus	SIX3	MGD	MGI:102764
Canis familiaris	SIX3	VGNC	VGNC:108216
Others	SIX3	NCBI