NRL (neural retina leucine zipper)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 4901
Gene name Neural retina leucine zipper
Gene symbol NRL
Synonyms (NCBI Gene)
D14S46ENRL-MAFRP27
Chromosome 14
Chromosome location 14q11.2-q12
Summary 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
SNPs SNP information provided by dbSNP.
11
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
89
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
162080 8002 ENSG00000129535
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
96
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Enhanced S-cone syndrome Likely pathogenic; Pathogenic rs762991211 RCV000408517
ENHANCED S-CONE SYNDROME 2 Pathogenic; Likely pathogenic rs763191889, rs104894463 RCV005861019
RCV005861020
Retinal dystrophy Likely pathogenic; Pathogenic rs2036353653, rs104894459, rs1350116482, rs764142151, rs1566561006, rs768178406, rs2036353932 RCV004815501
RCV004817194
RCV003889645
RCV003889646
RCV004817919
RCV001073789
RCV003890340
RCV003887951
Retinitis pigmentosa Likely pathogenic; Pathogenic rs527236087, rs1594246708, rs2138875137 RCV000132657
RCV001003097
RCV001535429
Show/Hide Unknown Diseases (8)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs1051718 RCV005893253
Cholangiocarcinoma Benign rs1051718 RCV005893256
Malignant tumor of esophagus Benign rs1051718 RCV005893252
NRL-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity rs201358563, rs750578845, rs1173295038, rs761024023 RCV003931095
RCV004758186
RCV003910700
RCV003906165
Show/Hide Text Mining Associations (16)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
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