CRX cone-rod homeobox [Homo sapiens (human)] - Gene

Summary

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Official Symbol: CRXprovided by HGNC
Official Full Name: cone-rod homeoboxprovided by HGNC
Primary source: HGNC:2383
See related: Ensembl:ENSG00000105392; HPRD:03748; MIM:602225; Vega:OTTHUMG00000170610
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CRD; LCA7; OTX3; CORD2
Summary: The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: 19q13.3

Sequence :: Chromosome: 19; NC_000019.9 (48325099..48346587)

See CRX in Epigenomics

Chromosome 19 - NC_000019.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

In this study, three variations were detected in 3 of 130 families with CORD, including two novel mutations, c.239A>G (p.Glu80Gly) and c.362C>T (p.Ala121Val)
Title: CRX variants in cone-rod dystrophy and mutation overview.
These findings suggest that CRX is a useful marker to discriminate metastatic retinoblastoma from other, more common, malignant small round cell tumors of childhood
Title: Immunohistochemical expression of CRX in extracranial malignant small round cell tumors.
Photosensitive photoreceptor cells can be generated by combinations of transcription factors. The combination of CRX and RX generate immature photoreceptors: and additional NEUROD promotes maturation.
Title: Derivation of human differential photoreceptor-like cells from the iris by defined combinations of CRX, RX and NEUROD.
Data show no interaction of barrier-to-autointegration factor (BAF) with HIV-1 MA, cone-rod homeobox (Crx) or MAN1-C in absence of DNA.
Title: No interaction of barrier-to-autointegration factor (BAF) with HIV-1 MA, cone-rod homeobox (Crx) or MAN1-C in absence of DNA.
Observational study of genetic testing. (HuGE Navigator)
Title: Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
CRX has a role in retinal and pineal lineage tumors
Title: CRX is a diagnostic marker of retinal and pineal lineage tumors.
DNA-binding domain mutations in NR2E3 affect in vivo dimerization and interaction with CRX
Title: Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.
CRX expression in the inner nuclear layer of the retina.
Title: Differential CRX and OTX2 expression in human retina and retinoblastoma.
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
authors identified a novel disease causing mutation, c.636delC, in the CRX gene, associated with autosomal dominant cone-rod dystrophy
Title: Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.

Submit: New GeneRIF Correction See all (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Retinitis pigmentosa (RP) is a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or "night blindness," followed by constriction of peripheral visual fields and, eventually, loss of central vision late in the course of the disease.

Diagnosis Testing

The diagnosis of RP relies on documentation of progressive loss in photoreceptor function by electroretinography (ERG) and visual field testing. Mutations in more than 50 different genes or loci are known to cause nonsyndromic RP.

Genetic Counseling

The mode of inheritance of RP is determined by family history and, in some instances, by molecular genetic testing. RP can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Females with an X-linked RP mutation may be unaffected or may show clinical symptoms. Such affected females are usually (but not always) less severely affected than males of the same age. Some digenic and mitochondrial forms have also been described. Genetic counseling depends on an accurate diagnosis, determination of the mode of inheritance in each family, and results of molecular genetic testing.

References

PMID: 20301590

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_000545.1	AAF73471.1	IPO13	BIND	PubMed	Kap13 interacts with Crx.
NP_000545.1	NP_006168.1	NRL	BIND	PubMed	Crx interacts with Nrl. The interaction involves the homeodomain of Crx and the basic leucine zipper of Nrl, in vitro. This interaction was modeled on a demonstrated interaction between bovine Crx and human Nrl.
O43186	O15265	ATXN7	HPRD	PubMed
O43186	O75531	BANF1	HPRD	PubMed
O43186	Q92793	CREBBP	HPRD	PubMed
O43186	Q09472	EP300	HPRD	PubMed
O43186	O94829	IPO13	HPRD	PubMed
O43186	Hypothetical protein BC014602	M1AP	HPRD	PubMed
O43186	Q99750	MDFI	HPRD	PubMed
O43186	Q9Y5X4	NR2E3	HPRD	PubMed
O43186	P54845	NRL	HPRD	PubMed
O43186	P20941	PDC	HPRD	PubMed
O43186	Retina and anterior neural fold homeobox like 1	RAX2	HPRD	PubMed
BioGRID:107796	BioGRID:112221	ATXN7	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107796	BioGRID:114342	BANF1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:107796	BioGRID:108347	EP300	BioGRID	PubMed	Two-hybrid
BioGRID:107796	BioGRID:115025	IPO13	BioGRID	PubMed	Reconstituted Complex
BioGRID:107796	BioGRID:108918	KAT2A	BioGRID	PubMed	Reconstituted Complex
BioGRID:107796	BioGRID:126265	M1AP	BioGRID	PubMed	Two-hybrid
BioGRID:107796	BioGRID:110353	MDFI	BioGRID	PubMed	Two-hybrid
BioGRID:107796	BioGRID:112550	SP1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107796	BioGRID:112553	SP3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107796	BioGRID:112554	SP4	BioGRID	PubMed	Affinity Capture-Western

General gene information

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Markers

D19S902 (e-PCR), detects polymorphism
- UniSTS:30729

G27385 (e-PCR)
- UniSTS:8722

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

Crx (e-PCR), detects polymorphism
- UniSTS:536452

D11S3114 (e-PCR)
- UniSTS:152207

G42186 (e-PCR)
- UniSTS:105104

Crx (e-PCR), detects polymorphism
- UniSTS:546710

RH78183 (e-PCR)
- UniSTS:24745

GDB:631813 (e-PCR)
- UniSTS:158430

Homology

Homologs of the CRX gene: The CRX gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
chromatin binding	IEA Inferred from Electronic Annotation more info
leucine zipper domain binding	IPI Inferred from Physical Interaction more info	PubMed
sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding transcription factor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
organ morphogenesis	TAS Traceable Author Statement more info	PubMed
positive regulation of transcription from RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info
response to stimulus	IEA Inferred from Electronic Annotation more info
retina development in camera-type eye	IEA Inferred from Electronic Annotation more info
transcription, DNA-dependent	IEA Inferred from Electronic Annotation more info
visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
transcription factor complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cone-rod homeobox protein

Names: cone-rod homeobox protein; orthodenticle homeobox 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008605.1 RefSeqGene

Range

5001..26489

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000554.4 → NP_000545.1 cone-rod homeobox protein

Status: REVIEWED

Source sequence(s)

AC008745, AH012061, AL711350, BT007364, BU736672

Consensus CDS

CCDS12706.1

UniProtKB/Swiss-Prot

O43186

Related

ENSP00000221996, OTTHUMP00000244137, ENST00000221996, OTTHUMT00000409812

Conserved Domains (1) summary

cd00086
Location:40 – 94
Blast Score: 198

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000019.9 Reference GRCh37.p10 Primary Assembly

Range

48325099..48346587

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000151.1 Alternate HuRef

Range

44751798..44773295

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018930.1 Alternate CHM1_1.0

Range

48511407..48532895

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01041061.1 (6335..27832)	None
genomic	AC008745.7 (102120..123537)	None
genomic	AF024711.1	AAB88418.1
genomic	AF335246.1	None
genomic	AMYH01009889.1 (75880..97368)	None
genomic	CH471126.1	EAW57515.1
mRNA	AF335247.1	None
mRNA	AF335249.1	None
mRNA	AF335593.1	None
mRNA	AF335594.1	None
mRNA	AF335595.1	None
mRNA	AF442496.1	None
mRNA	AL711350.1	None
mRNA	BC009045.1	None
mRNA	BC016664.1	AAH16664.1
mRNA	BC053672.1	AAH53672.1
mRNA	BT007364.1	AAP36028.1
mRNA	BU736672.1	None
mRNA	DQ340179.1	ABC69290.1
mRNA	DQ426867.1	None
mRNA	DQ426868.1	ABD90533.1
mRNA	EF432655.1	ABO31091.1
other-genetic	DQ893564.2	ABM84490.1
other-genetic	DQ894239.2	ABM85165.1