Gene table of CRX : cone-rod homeobox

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CRX	OMIM link	Number of associated genes	genes
120970	CONE-ROD DYSTROPHY 2	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	CRX, PROM1
153870	MACULAR DYSTROPHY, CONCENTRIC ANNULAR	ClinVar	link to OMIM	2	CRX, MMACHC
PS204000	LEBER CONGENITAL AMAUROSIS	ClinVar, OMIM, HUMSAVAR	link to OMIM	19	PRPH2, TULP1, LRAT, SPATA7, CEP290, RDH12, RPE65, CRX, GDF6, RPGRIP1, GUCY2D, CRB1, ROM1, KCNJ13, RD3, NMNAT1, LCA5, IMPDH1, AIPL1
PS268000	RETINITIS PIGMENTOSA	ClinVar, HUMSAVAR	link to OMIM	69	PDE6A, MAK, FSCN2, DHDDS, RHO, RP9, CNGA1, CRB1, SLC7A14, BEST1, CERKL, PRPF3, C8orf37, PROM1, TOPORS, PRPH2, PRCD, SNRNP200, IMPG2, PDE6B, IDH3B, RGR, TTC8, GUCA1B, CDHR1, PANK2, RDH12, BBS2, MERTK, RP1L1, NEK2, USH2A, ZNF408, LRAT, C2orf71, MYO7A, KLHL7, IMPDH1, ZNF513, RP1, NR2E3, PDE6G, ROM1, CYGB, ARL6, NRL, RPGR, PRPF4, RP2, IFT172, HGSNAT, TULP1, CNGB1, KIZ, EYS, OFD1, RPE65, PRPF6, FAM161A, RBP3, IFT140, PRPF8, ABCA4, CLRN1, PRPF31, SAG, CA4, CRX, SEMA4A

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Annotation of the gene CRX

Associated genes in ENSEMBL

ENSG00000105392

Associated proteins - SwissProt Accession ID

O43186

Associated PDB IDs

Cytogenetic Band

19q13.33

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

It is regulated by the following TF:

TFAP2A

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
core promoter proximal region DNA binding	GO:0001159	3.82
leucine zipper domain binding	GO:0043522	7.34
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0001077	4.31
nucleic acid binding transcription factor activity	GO:0001071	2.65
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
heterocyclic compound binding	GO:1901363	1.06
sequence-specific DNA binding	GO:0043565	2.79
sequence-specific double-stranded DNA binding	GO:1990837	3.2
core promoter proximal region sequence-specific DNA binding	GO:0000987	3.83
double-stranded DNA binding	GO:0003690	3.09
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0000982	3.94
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
nuclear hormone receptor binding	GO:0035257	4.7
regulatory region nucleic acid binding	GO:0001067	3.03
protein domain specific binding	GO:0019904	3.32
LRR domain binding	GO:0030275	6.91
hormone receptor binding	GO:0051427	4.57
receptor binding	GO:0005102	2.43
transcription regulatory region DNA binding	GO:0044212	3.03
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
RNA polymerase II core promoter proximal region sequence-specific DNA binding	GO:0000978	3.88
binding	GO:0005488	0.18