Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4901
Gene name Gene Name - the full gene name approved by the HGNC.	Neural retina leucine zipper
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NRL
Synonyms (NCBI Gene) Gene synonyms aliases	D14S46E, NRL-MAF, RP27
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q11.2-q12
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been as

Show/Hide all(11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894459	A>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104894463	A>G	Pathogenic	Missense variant, coding sequence variant
rs397514516	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs527236087	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs762991211	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs763191889	->G	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs794727281	G>A	Pathogenic	Intron variant, coding sequence variant, missense variant
rs901811301	G>A	Pathogenic	Coding sequence variant, stop gained
rs1566560531	G>C	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs1566561006	G>-,GG	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1594246708	->CCGCAGCC	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(89)

miRTarBase ID	miRNA	Experiments	Reference
MIRT527429	hsa-miR-892a	PAR-CLIP	22012620
MIRT527428	hsa-miR-216b-3p	PAR-CLIP	22012620
MIRT527427	hsa-miR-1306-5p	PAR-CLIP	22012620
MIRT527426	hsa-miR-6760-3p	PAR-CLIP	22012620
MIRT527425	hsa-miR-1208	PAR-CLIP	22012620
MIRT527424	hsa-miR-361-3p	PAR-CLIP	22012620
MIRT527423	hsa-miR-2116-3p	PAR-CLIP	22012620
MIRT527422	hsa-miR-6879-3p	PAR-CLIP	22012620
MIRT527421	hsa-miR-597-5p	PAR-CLIP	22012620
MIRT527420	hsa-miR-197-3p	PAR-CLIP	22012620
MIRT527419	hsa-miR-181b-2-3p	PAR-CLIP	22012620
MIRT527418	hsa-miR-181b-3p	PAR-CLIP	22012620
MIRT527417	hsa-miR-4420	PAR-CLIP	22012620
MIRT527416	hsa-miR-653-3p	PAR-CLIP	22012620
MIRT527415	hsa-miR-4691-5p	PAR-CLIP	22012620
MIRT527414	hsa-miR-6792-3p	PAR-CLIP	22012620
MIRT527413	hsa-miR-592	PAR-CLIP	22012620
MIRT527429	hsa-miR-892a	PAR-CLIP	22012620
MIRT527428	hsa-miR-216b-3p	PAR-CLIP	22012620
MIRT527427	hsa-miR-1306-5p	PAR-CLIP	22012620
MIRT527426	hsa-miR-6760-3p	PAR-CLIP	22012620
MIRT527425	hsa-miR-1208	PAR-CLIP	22012620
MIRT527424	hsa-miR-361-3p	PAR-CLIP	22012620
MIRT527423	hsa-miR-2116-3p	PAR-CLIP	22012620
MIRT527422	hsa-miR-6879-3p	PAR-CLIP	22012620
MIRT527421	hsa-miR-597-5p	PAR-CLIP	22012620
MIRT527420	hsa-miR-197-3p	PAR-CLIP	22012620
MIRT527419	hsa-miR-181b-2-3p	PAR-CLIP	22012620
MIRT527418	hsa-miR-181b-3p	PAR-CLIP	22012620
MIRT527417	hsa-miR-4420	PAR-CLIP	22012620
MIRT527416	hsa-miR-653-3p	PAR-CLIP	22012620
MIRT527415	hsa-miR-4691-5p	PAR-CLIP	22012620
MIRT527414	hsa-miR-6792-3p	PAR-CLIP	22012620
MIRT527413	hsa-miR-592	PAR-CLIP	22012620
MIRT1194231	hsa-miR-1178	CLIP-seq
MIRT1194232	hsa-miR-1184	CLIP-seq
MIRT1194233	hsa-miR-1207-3p	CLIP-seq
MIRT1194234	hsa-miR-1207-5p	CLIP-seq
MIRT1194235	hsa-miR-1266	CLIP-seq
MIRT1194236	hsa-miR-1301	CLIP-seq
MIRT1194237	hsa-miR-1825	CLIP-seq
MIRT1194238	hsa-miR-197	CLIP-seq
MIRT1194239	hsa-miR-3135	CLIP-seq
MIRT1194240	hsa-miR-3153	CLIP-seq
MIRT1194241	hsa-miR-3663-3p	CLIP-seq
MIRT1194242	hsa-miR-3689a-3p	CLIP-seq
MIRT1194243	hsa-miR-3689c	CLIP-seq
MIRT1194244	hsa-miR-3689d	CLIP-seq
MIRT1194245	hsa-miR-3929	CLIP-seq
MIRT1194246	hsa-miR-4418	CLIP-seq
MIRT1194247	hsa-miR-4419b	CLIP-seq
MIRT1194248	hsa-miR-4478	CLIP-seq
MIRT1194249	hsa-miR-4518	CLIP-seq
MIRT1194250	hsa-miR-4525	CLIP-seq
MIRT1194251	hsa-miR-4646-5p	CLIP-seq
MIRT1194252	hsa-miR-4660	CLIP-seq
MIRT740170	hsa-miR-4667-3p	CLIP-seq
MIRT1194253	hsa-miR-4668-5p	CLIP-seq
MIRT1194254	hsa-miR-4716-3p	CLIP-seq
MIRT1194255	hsa-miR-4722-5p	CLIP-seq
MIRT1194256	hsa-miR-4728-5p	CLIP-seq
MIRT1194257	hsa-miR-4736	CLIP-seq
MIRT1194258	hsa-miR-4738-3p	CLIP-seq
MIRT1194259	hsa-miR-4763-3p	CLIP-seq
MIRT740171	hsa-miR-4772-3p	CLIP-seq
MIRT1194260	hsa-miR-5047	CLIP-seq
MIRT1194261	hsa-miR-509-3-5p	CLIP-seq
MIRT1194262	hsa-miR-509-5p	CLIP-seq
MIRT1194263	hsa-miR-542-3p	CLIP-seq
MIRT740172	hsa-miR-558	CLIP-seq
MIRT1194264	hsa-miR-645	CLIP-seq
MIRT2056373	hsa-miR-3152-3p	CLIP-seq
MIRT2056374	hsa-miR-3919	CLIP-seq
MIRT2056375	hsa-miR-5095	CLIP-seq
MIRT2056376	hsa-miR-552	CLIP-seq
MIRT2056377	hsa-miR-570	CLIP-seq
MIRT2284921	hsa-miR-1254	CLIP-seq
MIRT2284922	hsa-miR-2110	CLIP-seq
MIRT2284923	hsa-miR-3116	CLIP-seq
MIRT2284924	hsa-miR-3144-5p	CLIP-seq
MIRT2284925	hsa-miR-3150a-3p	CLIP-seq
MIRT2284926	hsa-miR-3175	CLIP-seq
MIRT2284927	hsa-miR-3191	CLIP-seq
MIRT2284928	hsa-miR-4652-5p	CLIP-seq
MIRT1194258	hsa-miR-4738-3p	CLIP-seq
MIRT2284929	hsa-miR-4786-5p	CLIP-seq
MIRT2284930	hsa-miR-635	CLIP-seq
MIRT2284931	hsa-miR-665	CLIP-seq
MIRT2284932	hsa-miR-939	CLIP-seq

Show/Hide all(35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	8552602, 17335001
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	8552602
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	17335001
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	1729696
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	10887186, 15028672, 23956131
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11477108, 17335001
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	8939891
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	11477108
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	1729696
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0043522	Function	Leucine zipper domain binding	IPI	10887186
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	8552602
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	17335001, 21981118
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	TAS	8939891
GO:0046548	Process	Retinal rod cell development	IBA
GO:0046548	Process	Retinal rod cell development	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990841	Function	Promoter-specific chromatin binding	IEA

MIM	HGNC	e!Ensembl
162080	8002	ENSG00000129535

Protein

UniProt ID

P54845

Protein name

Neural retina-specific leucine zipper protein (NRL)

Protein function

Acts as a transcriptional activator which regulates the expression of several rod-specific genes, including RHO and PDE6B (PubMed:21981118). Also functions as a transcriptional coactivator, stimulating transcription mediated by the transcription

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08383	Maf_N	67 → 101	Maf N-terminal region	Family
PF03131	bZIP_Maf	132 → 223	bZIP Maf transcription factor	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Expressed in the brain and the retina (PubMed:11477108). Expressed strongly in rod and cone cells (at protein level) (PubMed:11477108). {ECO:0000269|PubMed:11477108}.

Sequence

MALPPSPLAMEYVNDFDLMKFEVKREPSEGRPGPPTASLGSTPYSSVPPSPTFSEPGMVG
ATEGTRPGLEELYWLATLQQQLGAGEALGLSPEEAMELLQGQGPVPVDGPHGYYPGSPEE
TGAQHVQLAERFSDAALVSMSVRELNRQLRGCGRDEALRLKQRRRTLKNRGYAQACRSKR
LQQRRGLEAERARLAAQLDALRAEVARLARERDLYKARCDRLTSSGPGSGDPSHLFL

Sequence length

237

Interactions

View interactions

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Enhanced S-Cone Syndrome	enhanced s-cone syndrome	rs762991211	N/A
retinal dystrophy	Retinal dystrophy	rs1566561006, rs768178406	N/A
Retinitis Pigmentosa	retinitis pigmentosa 27, retinitis pigmentosa	rs1566561006, rs1566560531, rs1594246708, rs104894459, rs763191889, rs527236087, rs794727281, rs762991211	N/A

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Amaurosis congenita of Leber type 1	Associate	35693422
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	10204852
Diabetic Retinopathy	Associate	37318461
Disease	Associate	35693422
Enhanced S Cone Syndrome	Associate	32081919
Genetic Diseases Inborn	Associate	35693422
Leber Congenital Amaurosis	Associate	12552256, 20513135
Myopathies Nemaline	Associate	15591106
Night Blindness	Associate	15591106
Retinal Degeneration	Associate	15591106, 17356515
Retinal Degeneration Autosomal Recessive Clumped Pigment Type	Associate	39766861
Retinal Diseases	Associate	35693422
Retinal Dystrophies	Associate	39766861
Retinitis Pigmentosa	Associate	12552256, 15591106, 15994872, 27081294, 32081919, 35693422, 39766861
RHYNS syndrome	Associate	35693422
Uniparental Disomy	Associate	39766861

NRL (neural retina leucine zipper)