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Gene id 1406
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary
Gene Symbol CRX   Gene   UCSC   Ensembl
Aliases CORD2, CRD, LCA7, OTX3
Gene name cone-rod homeobox
Alternate names cone-rod homeobox protein, orthodenticle homeobox 3,
Gene location 19q13.33 (47821936: 47843323)     Exons: 4     NC_000019.10
Gene summary(Entrez) 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 thi
OMIM 615784

Protein Summary
Protein general information O43186  

Name: Cone rod homeobox protein

Length: 299  Mass: 32261

Tissue specificity: Retina.

Sequence MMAYMNPGPHYSVNALALSGPSVDLMHQAVPYPSAPRKQRRERTTFTRSQLEELEALFAKTQYPDVYAREEVALK
INLPESRVQVWFKNRRAKCRQQRQQQKQQQQPPGGQAKARPAKRKAGTSPRPSTDVCPDPLGISDSYSPPLPGPS
GSPTTAVATVSIWSPASESPLPEAQRAGLVASGPSLTSAPYAMTYAPASAFCSSPSAYGSPSSYFSGLDPYLSPM
VPQLGGPALSPLSGPSVGPSLAQSPTSLSGQSYGAYSPVDSLEFKDPTGTWKFTYNPMDPLDYKDQSAWKFQIL
Structural information
Interpro:  IPR009057  IPR017970  IPR001356  IPR013851  
Prosite:   PS00027 PS50071
CDD:   cd00086
MINT:  
STRING:   ENSP00000221996
Other Databases GeneCards:  CRX  Malacards:  CRX

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0001228 DNA-binding transcription
activator activity, RNA
polymerase II-specific
 IDA molecular function
GO:0000978 RNA polymerase II cis-reg
ulatory region sequence-s
pecific DNA binding
 IDA molecular function
GO:0045944 positive regulation of tr
anscription by RNA polyme
rase II
 IDA biological process
GO:0000790 nuclear chromatin
 ISA cellular component
GO:0000981 DNA-binding transcription
factor activity, RNA pol
ymerase II-specific
 ISM molecular function
GO:0000981 DNA-binding transcription
factor activity, RNA pol
ymerase II-specific
 ISA molecular function
GO:0043522 leucine zipper domain bin
ding
 IPI molecular function
GO:0035257 nuclear hormone receptor
binding
 ISS molecular function
GO:0003700 DNA-binding transcription
factor activity
 ISS molecular function
GO:0006355 regulation of transcripti
on, DNA-templated
 ISS biological process
GO:0005634 nucleus
 ISS cellular component
GO:0003700 DNA-binding transcription
factor activity
 IEA molecular function
GO:0043565 sequence-specific DNA bin
ding
 IEA molecular function
GO:0003677 DNA binding
 IEA molecular function
GO:0005634 nucleus
 IEA cellular component
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological process
GO:0007275 multicellular organism de
velopment
 IEA biological process
GO:0030154 cell differentiation
 IEA biological process
GO:0007601 visual perception
 IEA biological process
GO:0050896 response to stimulus
 IEA biological process
GO:0003677 DNA binding
 IEA molecular function
GO:0007275 multicellular organism de
velopment
 IEA biological process
GO:0007399 nervous system developmen
t
 IEA biological process
GO:0003677 DNA binding
 IEA molecular function
GO:0005634 nucleus
 IEA cellular component
GO:0003700 DNA-binding transcription
factor activity
 NAS molecular function
GO:0007601 visual perception
 TAS biological process
GO:0009887 animal organ morphogenesi
s
 TAS biological process
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005634 nucleus
 IEA cellular component

Diseases

Expand All | Collapse All
Associated diseases References
Cone-rod dystrophy and cone dystrophy KEGG:H00481
Leber congenital amaurosis KEGG:H00837
Cone-rod dystrophy and cone dystrophy KEGG:H00481
Leber congenital amaurosis KEGG:H00837
Leber congenital amaurosis 7 PMID:9537410
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Cryptorchidism MIK: 28606200

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract