RAX - retina and anterior neural fold homeobox Gene

Also Known as RX; RAX1; MCOP3; MCOPS16

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 30062

About RAX

Cytogenetic location: 18q21.32 Genomic coordinates (GRCh38): 18:59,267,038-59,273,454 (from NCBI)

This gene has 4 transcripts (splice variants), 98 orthologues, 50 paralogues and is associated with 5 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009]

RAX Products (1)

mRNA	Protein	Name
NM_013435.3	NP_038463.2	retinal homeobox protein Rx

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	10625658	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	10625658	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 positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	10625658	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

Protein Preferred Names	Protein Names
retinal homeobox protein Rx	retina and anterior neural fold homeobox protein

Related Diseases

Diseases	Alias
Microphthalmia, Isolated 3	Isolated Microphthalmia 3 MCOP3 Microphthalmia, Isolated, 3 Isolated Clinical Anophthalmia Microphthalmia, Isolated, Type 3
Colobomatous Microphthalmia	Anophthalmia-Microphthalmia Syndrome Mac Microphthalmia With Colobomatous Cyst Microphthalmia-Anophthalmia-Coloboma Syndrome Microphthalmia-Anophthalmia-Coloboma Microphthalmia And Mental Deficiency
Nanophthalmos	Nanophthalmia
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 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
Microphthalmia, Syndromic 10	MCOPS10 Moba Microphthalmia And Brain Atrophy Syndromic Microphthalmia 10 Microphthalmia-Brain Atrophy Syndrome Microphthalmia Syndromic 10 Moba Syndrome Syndromic Microphthalmia Type 10
Microphthalmia, Syndromic 6	MCOPS6 Microphthalmia And Pituitary Anomalies Microphthalmia With Brain And Digit Anomalies Microphthalmia With Brain And Digit Developmental Anomalies Syndromic Microphthalmia Type 6 Syndromic Microphthalmia 6 Anophthalmia Clinical With Micrognathia Malformed Ears Digital Anomalies And Abnormal External Genitalia Bakrania-Ragge Syndrome Orofacial Cleft 11 Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia Microphthalmia Syndromic 6 Microphthalmia, Syndromic, 6 Clinical Anophthalmia With Micrognathia, Malformed Ears, Digital Anomalies And Abnormal External Genitalia Microphthalmia Syndromic, Type 6
Microphthalmia, Isolated 2	Isolated Microphthalmia 2 MCOP2 Anophthalmia, Clinical, Isolated Microphthalmia, Isolated, 2 Isolated Clinical Anophthalmia Microphthalmia, Isolated, Type 2
Alveolar Periostitis	Dry Socket Alveolitis Of Jaw Dry Tooth Socket Alveolar Pyorrhea Alveolar Osteitis Alveolitis Sicca Dolorosa Alveolodental Periostitis
Isolated Microphthalmia
Corneal Staphyloma	Staphyloma Of Cornea Congenital Staphyloma
Orbital Cyst
Gillespie Syndrome	GLSP Aniridia, Cerebellar Ataxia And Mental Deficiency Aniridia Cerebellar Ataxia Mental Deficiency Aniridia, Cerebellar Ataxia, And Mental Retardation Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome Aniridia-Cerebellar Ataxia-Intellectual Disability Aniridia-Cerebellar Ataxia-Mental Deficiency Partial Aniridia-Cerebellar Ataxia-Oligophrenia Aniridia, Cerebellar Ataxia, And Intellectual Disability
Sclerocornea	Isolated Congenital Sclerocornea
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
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

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 (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W130236	Methylene Violet 3RAX	Inhibitor	95.54%	Unkown
HY-RS11157	PRKRA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS11711	RAX Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS11712	RAX2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17731	Rax Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24196	Rax Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	RAX	MGD	MGI:109632
Bos taurus	RAX	VGNC	VGNC:56370
Rattus norvegicus	RAX	RGD	RGD:620371
Macaca mulatta	RAX	VGNC	VGNC:82218
Felis catus	RAX	VGNC	VGNC:80477
Canis familiaris	RAX	VGNC	VGNC:53758
Others	RAX	NCBI