Gene table of NRL : neural retina leucine zipper

Gene-disease associations table

Disease ID	Disease name	Source of annotation with NRL	OMIM link	Number of associated genes	genes
PS268000	RETINITIS PIGMENTOSA	ClinVar, OMIM, 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 NRL

Associated genes in ENSEMBL

ENSG00000129535

Associated proteins - SwissProt Accession ID

P54845

Associated PDB IDs

Cytogenetic Band

14q12

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

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
regulatory region nucleic acid binding	GO:0001067	3.03
protein domain specific binding	GO:0019904	3.32
LRR domain binding	GO:0030275	6.91
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