OTX2 - orthodenticle homeobox 2 Gene

Also Known as CPHD6; MCOPS5

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5015

About OTX2

Cytogenetic location: 14q22.3 Genomic coordinates (GRCh38): 14:56,799,905-56,810,479 (from NCBI)

This gene has 12 transcripts (splice variants), 210 orthologues, 50 paralogues and is associated with 10 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a member of the bicoid subfamily of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and plays a role in brain, craniofacial, and sensory organ development. The encoded protein also influences the proliferation and differentiation of dopaminergic neuronal progenitor cells during Mitosis. Mutations in this gene cause syndromic microphthalmia 5 (MCOPS5) and combined pituitary hormone deficiency 6 (CPHD6). This gene is also suspected of having an oncogenic role in medulloblastoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Pseudogenes of this gene are known to exist on chromosomes two and nine. [provided by RefSeq, Jul 2012]

OTX2 Products (5)

mRNA Protein Name
NM_001270523.2 NP_001257452.1 homeobox protein OTX2 isoform b
NM_001270524.2 NP_001257453.1 homeobox protein OTX2 isoform b
NM_001270525.2 NP_001257454.1 homeobox protein OTX2 isoform a
NM_021728.4 NP_068374.1 homeobox protein OTX2 isoform a
NM_172337.3 NP_758840.1 homeobox protein OTX2 isoform b
Molecular Function GO Annotation Evidence References Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
12559959 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
12559959 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20530484 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 axon guidance IDA
IDA: Inferred from direct assay
16267555 GOA
involved in dopaminergic neuron differentiation IGI
IGI: Inferred from genetic interaction
19951692 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
12559959 GOA
involved in protein-containing complex assembly IDA
IDA: Inferred from direct assay
20530484 GOA
Cellular Component GO Annotation Evidence References Source
located in growth cone IDA
IDA: Inferred from direct assay
16267555 GOA
located in nucleus IDA
IDA: Inferred from direct assay
24399192 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
20530484 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

OTX2 Protein Structure

Homeobox

Homeobox: Homeobox domain (39 - 95)

TF_Otx

TF_Otx: Otx1 transcription factor (153 - 235)

  • 0
  • 100
  • 200
  • 289 a.a.
Protein Preferred Names Protein Names

homeobox protein OTX2

  • orthodenticle homolog 2

OTX2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82465 OTX2 Antibody (YA2210) WB Human
HY-P84259 OTX2 Antibody (YA3956) WB, IHC-P, ICC/IF, FC, ELISA Human, Mouse, Rat, Rabbit, Monkey
HY-P84259A OTX2 Antibody (YA3956)(PBS only) WB, IHC-P, ICC/IF, FC, ELISA Human, Mouse, Rat, Rabbit, Monkey
HY-P85307 OTX2 Antibody (YA4999) WB, IHC-P, IHC-F, ICC/IF, FC, IF-Tissue Human, Mouse, Rat

Related Diseases

Diseases Alias
Microphthalmia, Syndromic 5
  • MCOPS5

  • Syndromic Microphthalmia Type 5

  • Retinal Dystrophy, Early-Onset, With Or Without Pituitary Dysfunction

  • Syndromic Microphthalmia 5

  • Syndromic Microphthalmia/Anophthalmia Due To Otx2 Mutation

  • Microphthalmia Syndromic 5

  • Otx2-Related Eye Disorders

  • Microphthalmia, Syndromic, 5

  • RDEOP

  • Microphthalmia, Syndromic, Type 5

Pituitary Hormone Deficiency, Combined, 6
  • CPHD6

  • Hormone Deficiency, Pituitary, Combined, Type 6

Colobomatous Microphthalmia
  • Anophthalmia-Microphthalmia Syndrome

  • Mac

  • Microphthalmia With Colobomatous Cyst

  • Microphthalmia-Anophthalmia-Coloboma Syndrome

  • Microphthalmia-Anophthalmia-Coloboma

  • Microphthalmia And Mental Deficiency

Fryns Microphthalmia Syndrome
  • Anophthalmia

  • Microphthalmia With Facial Clefting

  • Anophthalmia Plus Syndrome

  • Leichtman Wood Rohn Syndrome

  • Anophthalmia-Plus Syndrome

  • Anophthalmia, Cleft Lip/Palate, Facial Anomalies, And Cns Anomalies And Hypothalamic Disorder

  • Fryns Anophthalmia Syndrome

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

Butterfly-Shaped Pigment Dystrophy
  • Butterfly-Shaped Pattern Dystrophy

  • Butterfly-Shaped Pigmentary Macular Dystrophy

Nanophthalmos
  • Nanophthalmia

Combined Pituitary Hormone Deficiencies, Genetic Forms
  • Congenital Hypopituitarism

  • Pituitary Hormone Deficiency, Combined 1

  • Congenital Combined Pituitary Hormone Deficiency

  • Non-Acquired Combined Pituitary Hormone Deficiency

  • Cphd1

  • Familial Congenital Hypopituitarism

  • Multiple Pituitary Hormone Deficiencies, Genetic Forms

  • Combined Pituitary Hormone Deficiencies, Genetic Form

  • Hormone Deficiency, Pituitary, Combined, Type 1

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

Syndromic Microphthalmia
  • Microphthalmia, Syndromic

Agnathia-Otocephaly Complex
  • Otocephaly

  • Holoprosencephaly-Agnathia

  • Dysgnathia Complex Agnathia-Holoprosencephaly

  • AGOTC

  • Agnathia-Holoprosencephaly-Situs Inversus Syndrome

  • Dysgnathia Complex

  • Agnathia-Holoprosencephaly

  • Cervical Auricle

Hypertonia
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

Pattern Dystrophy
  • Patterned Dystrophy Of The Retinal Pigment Epithelium

46,Xy Partial Gonadal Dysgenesis
  • 46,Xy Pgd

  • 46,Xy Partial Testicular Dysgenesis

Anxiety
  • Anxiety Disorder

  • Anxiety Disorders

  • Anxiety State

  • Anxieties

  • Anxiety Neurosis

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

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

Dysostosis
  • Dysostoses

Cataract
  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities

Desmoplastic Nodular Medulloblastoma
  • Medulloblastoma With Extensive Nodularity

  • Nodular Medulloblastoma

  • Desmoplastic/Nodular Medulloblastoma

  • Mben

  • Medulloblastoma, With Extensive Nodularity

Macular Degeneration, Age-Related, 7
  • Age Related Macular Degeneration 7

  • ARMD7

  • Macular Degeneration, Age-Related, Neovascular Type

  • Susceptibility To Neovascular Type Of Age-Related Macular Degeneration

  • Macular Degeneration, Age-Related, Type 7

Medullomyoblastoma
Large Cell Medulloblastoma
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

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

Pituitary Hypoplasia
  • Hypoplasia Of The Pituitary Gland

Microphthalmia, Isolated 3
  • Isolated Microphthalmia 3

  • MCOP3

  • Microphthalmia, Isolated, 3

  • Isolated Clinical Anophthalmia

  • Microphthalmia, Isolated, Type 3

Isolated Microphthalmia
Arthrogryposis, Distal, Type 2a
  • Freeman-Sheldon Syndrome

  • Craniocarpotarsal Dystrophy

  • Craniocarpotarsal Dysplasia

  • DA2A

  • Whistling Face-Windmill Vane Hand Syndrome

  • Fss

  • Distal Arthrogryposis Type 2a

  • Whistling Face Syndrome

  • Freeman-Burian Syndrome

  • Arthrogryposis Distal Type 2a

  • Distal Arthrogryposis, Type 2a

  • Fbs

  • Arthrogryposis, Distal, 2a

Craniofacial Microsomia
  • Goldenhar Syndrome

  • Hemifacial Microsomia

  • Oculoauriculovertebral Spectrum

  • Oavs

  • Oculo-Auriculo-Vertebral Spectrum

  • CFM

  • Oav Dysplasia

  • Facioauriculovertebral Sequence

  • Fav Sequence

  • First And Second Branchial Arch Syndrome

  • Otomandibular Dysostosis

  • Hfm

  • Oculoauriculovertebral Dysplasia

  • Facio-Auriculo-Vertebral Spectrum

  • Facioauriculovertebral Dysplasia

  • Oculo-Auriculo-Vertebral Dysplasia

  • First Arch Syndrome

  • Oav Dysplasia

  • Goldenhar Disease

  • Expanded Spectrum Hemifacial Microsomia

  • Expanded Spectrum Of Hemifacial Microsomia

  • Oculoauriculovertebral Syndrome

  • Oavd

  • Asymmetric Hypoplasia Of Facial Structures

  • Auriculobranchiogenic Dysplasia

  • Fav

  • First And Second Pharyngeal Arch Syndromes

  • Goldenhar-Gorlin Syndrome

  • Lateral Facial Dysplasia

  • Oav Complex

  • Oral-Mandibular-Auricular Syndrome

  • Unilateral Intrauterine Facial Necrosis

  • Unilateral Mandibulofacial Dysostosis

  • Oav Spectrum

  • Oculoauricular Vertebral Dysplasia

  • Microsomia, Hemifacial

  • Goldenhar Syndrome With Ipsilateral Radial Defect

Microphthalmia, Syndromic 8
  • MCOPS8

  • Mmep Syndrome

  • Mmep

  • Syndromic Microphthalmia Type 8

  • Viljoen-Smart Syndrome

  • Microcephaly, Microphthalmia, Ectrodactyly Of Lower Limbs, And Prognathism

  • Syndromic Microphthalmia 8

  • Microcephaly-Microphthalmia-Ectrodactyly Of Lower Limbs-Prognathism Syndrome

  • Microphthalmia Syndromic 8

  • Microcephaly Microphthalmia Ectrodactyly Of Lower Limbs And Prognathism

  • Viljoen Smart Syndrome

  • Microphthalmia, Syndromic, 8

  • Microcephaly, Microphthalmia, Ectrodactyly Of Lower Limbs And Prognathism

Pituitary Hormone Deficiency, Combined, 2
  • Panhypopituitarism

  • Combined Pituitary Hormone Deficiency

  • CPHD2

  • Ateliotic Dwarfism With Hypogonadism

  • Pituitary Dwarfism Iii

  • Hanhart Dwarfism

  • Simmond'S Disease

  • Simmonds' Disease

  • Cphd

  • Pituitary Hormone Deficiency, Combined

  • Hormone Deficiency, Pituitary, Combined, Type 2

  • Pituitary Dwarfism Type 3

  • Sheehan Syndrome

Amblyopia
  • Lazy Eye

Macular Dystrophy, Patterned, 1
  • Patterned Macular Dystrophy 1

  • MDPT1

  • Patterned Dystrophy Of Retinal Pigment Epithelium

  • Macular Dystrophy, Butterfly-Shaped Pigmentary

  • Butterfly Dystrophy Of Retinal Pigment Epithelium

  • Butterfly-Shaped Pigmentary Maculary Dystrophy 1

  • Dystrophy, Macular, Patterned, Type 1

Vitreous Disease
  • Disorder Of Vitreous Body

Enhanced S-Cone Syndrome
  • Goldmann-Favre Syndrome

  • ESCS

  • Favre Hyaloideoretinal Degeneration

  • Retinoschisis With Early Hemeralopia

  • Retinoschisis With Early Nyctalopia

  • Enhanced S Cone Syndrome

  • S-Cone Syndrome, Enhanced

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

Sclerocornea
  • Isolated Congenital Sclerocornea

Microphthalmia, Isolated 2
  • Isolated Microphthalmia 2

  • MCOP2

  • Anophthalmia, Clinical, Isolated

  • Microphthalmia, Isolated, 2

  • Isolated Clinical Anophthalmia

  • Microphthalmia, Isolated, Type 2

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

Macular Degeneration, Age-Related, 1
  • Macular Degeneration

  • Age-Related Macular Degeneration

  • Macular Degeneration, Age-Related

  • Age Related Macular Degeneration

  • Age Related Macular Degeneration 1

  • ARMD1

  • Senile Macular Degeneration

  • Maculopathy, Age-Related, 1

  • Macular Degeneration, Age-Related, Reduced Risk Of

  • Age Related Maculopathy 1

  • Age Related Maculopathies

  • Age Related Maculopathy

  • Senile Macular Retinal Degeneration

  • Macular Degeneration Of Retina

  • Age-Related Maculopathy

  • Amd

  • Armd

  • Age-Related Maculopathy, Susceptibility To

  • Maculopathy Age-Related

  • Macular Degeneration, Age-Related, 1, Susceptibility To

  • Maculopathy, Age-Related

  • Macular Degeneration, Age-Related, Type 1

  • Macular Degeneration, Age-Related, 2

Valproate Embryopathy
  • Fetal Valproate Syndrome

  • Fetal Valproic Acid Syndrome

  • Fvs

  • Valproic Acid Embryopathy

  • Fetal Valproate Spectrum Disorder

  • Valproate Embryopathy, Susceptibility To

  • Foetal Valproate Syndrome

  • Foetal Valproic Acid Syndrome

  • Susceptibility To Valproate Embryopathy

  • Valproic Acid Antenatal Infection

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

Infratentorial Cancer
  • Infratentorial Neoplasms

  • Brain Neoplasm, Infratentorial

  • Malignant Infratentorial Tumors

Basal Cell Nevus Syndrome
  • Nevoid Basal Cell Carcinoma Syndrome

  • Gorlin Syndrome

  • Nbccs

  • BCNS

  • Gorlin-Goltz Syndrome

  • Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies

  • Cerebral Gigantism Jaw Cysts

  • Cramer Niederdellmann Syndrome

  • Gorlin Syndrome Or Gorlin-Goltz Syndrome

  • Naevoid Basal Cell Carcinoma Syndrome

Childhood Medulloblastoma
  • Medulloblastoma, Childhood

  • Pediatric Medulloblastoma

  • Medulloblastoma Childhood

Optic Nerve Hypoplasia, Bilateral
  • Optic Nerve Hypoplasia

  • Bilateral Optic Nerve Hypoplasia

  • Optic Nerve Hypoplasia, Familial Bilateral

  • Familial Bilateral Optic Nerve Hypoplasia

  • Isolated Optic Nerve Hypoplasia/Aplasia

  • Optic Nerve Aplasia, Bilateral

  • Onh

  • BONH

  • Bilateral Optic Nerve Aplasia

  • Hypoplasia, Optic Nerve, Bilateral

Exotropia
  • Divergent Concomitant Strabismus

  • Divergent Strabismus

  • Divergent Squint

  • External Strabismus

  • Xt - [Exotropia]

Iris Disease
  • Iris Diseases

Persistent Hyperplastic Primary Vitreous
  • Congenital Retinal Detachment

  • Ncrna Disease

  • Non-Syndromic Congenital Retinal Non-Attachment

  • Pfvs

  • Phpv

  • Persistent Fetal Vasculature Syndrome

Branchiootic Syndrome
  • Bo Syndrome

  • Branchiootic Dysplasia

  • Bor

  • Bo Syndrome 1

  • Bos1

  • Branchiootic Syndrome 1

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

Pituitary Gland Disease
  • Pituitary Diseases

  • Pituitary Dysfunction

  • Pituitary Disease

  • Pituitary Deficiency

  • Pituitary Disorders

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

Esotropia
  • Convergence In Manifest Squint

  • Crossed Eyes

  • Internal Strabismus

  • Convergent Concomitant Strabismus

  • Convergent Squint

  • Convergent Strabismus

  • Cross-Eye

Atypical Teratoid Rhabdoid Tumor
  • Rhabdoid Tumor Predisposition Syndrome

  • Rtps

  • Atypical Teratoid/Rhabdoid Tumor

  • Rhabdoid Predisposition Syndrome

  • Familial Posterior Fossa Brain Tumor Of Infancy

  • Familial Rhabdoid Tumor

  • At/Rt

  • Atypical Teratoid Rhabdoid Tumour

  • Atypical Teratoid/Rhabdoid Tumour

  • Rhabdoid Tumor Of The Cns

  • Rhabdoid Tumour Of The Cns

  • Familial Posterior Fossa Brain Tumor Syndrome

  • Hereditary Swi/Snf Deficiency Syndrome

  • Atrt

Holoprosencephaly
  • Holoprosencephaly Sequence

  • Hpe

  • Hpe - [Holoprosencephaly]

Orofacial Cleft
  • Cleft, Orofacial

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Cryptorchidism, Unilateral Or Bilateral
  • Cryptorchidism

  • Undescended Testicle

  • Undescended Testis

  • Cryptorchism

  • Undescended Testicles

  • CRYPTO

  • Impaired Testicular Descent

  • Cryptosporidiosis

  • Retained Testis

  • Unilateral Cryptorchidism

  • Unilateral Undescended Testis

  • Nondescent Unilateral Testicle

  • Unilateral Cryptorchism

  • Ectopic Testis, Unilateral

  • Bilateral Cryptorchidism

  • Bilateral Cryptorchism

  • Bilateral Nondescent Testicle

  • Bilateral Undescended Testes

  • Bilateral Ectopic Testes

Eye Disease
  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy

Strabismus
  • Strabismus, Susceptibility To

  • Strabismus, Susceptibility To, 1

  • Strabismus 1

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

Joubert Syndrome 1
  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • 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

Orthologs Information

Species Symbol Source ID
Mus musculus OTX2 MGD MGI:97451
Rattus norvegicus OTX2 RGD RGD:1305705
Canis familiaris OTX2 VGNC VGNC:44194
Bos taurus OTX2 VGNC VGNC:32503
Macaca mulatta OTX2 VGNC VGNC:84414
Felis catus OTX2 VGNC VGNC:80888
Others OTX2 NCBI