1. Gene
  2. OTX2 - orthodenticle homeobox 2 Gene

OTX2 - orthodenticle homeobox 2 Gene

Homo sapiens

Also known as CPHD6; MCOPS5

Gene ID: 5015 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference 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

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