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Nrl Gene Detail
Summary
  • Symbol
    Nrl
  • Name
    neural retina leucine zipper gene
  • Feature Type
    protein coding gene
  • IDs
    MGI:102567
    NCBI Gene: 18185
  • Gene Overview
    MyGene.info: NRL
Location & Maps
more
  • Sequence Map
    Chr14:55518978-55524981 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      6004 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 28.19 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    NRL, neural retina leucine zipper
  • Vertebrate Orthologs
    9
  • Human Ortholog
    NRL, neural retina leucine zipper
    Orthology source: HomoloGene, HGNC
  • Synonyms
    D14S46E, NRL-MAF, RP27
  • Links
    NCBI Gene ID: 4901
    neXtProt AC: NX_P54845

  • Chr Location
    14q11.2-q12; chr14:24078693-24114802 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Nrl mouse models; 1 with human NRL associations

Human Disease Mouse Models
       Enhanced S-Cone Syndrome; ESCS   OMIM: 268100 View 1 model
       Retinitis Pigmentosa 27; RP27   OMIM: 613750
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 4 alleles in 5 genetic backgrounds
    4 phenotypes from multigenic genotypes
    4 images
    72 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    1
  • Targeted
    5
  • Genomic Mutations
    1 involving Nrl
Homozygotes for a targeted null mutation exhibit a retinal defect causing loss of rod function, exaggerated cone function, short, sparse outer segments, and abnormal disks.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 18185 NCBI Gene Model | MGI Sequence Detail 6004 C57BL/6J ±  kb
transcript NM_001271916 RefSeq | MGI Sequence Detail 2504 C57BL/6  
polypeptide P54846 UniProt | EBI | MGI Sequence Detail 237 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    15 from dbSNP Build 142
  • PCR
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000011432 neural retina-specific leucine zipper protein
  • InterPro Domains
    IPR004827 Basic-leucine zipper domain
    IPR004826 Basic leucine zipper domain, Maf-type
    IPR013592 Maf transcription factor, N-terminal
    IPR028575 Neural retina-specific leucine zipper protein
    IPR024874 Transcription factor Maf family
    IPR008917 Transcription factor, Skn-1-like, DNA-binding domain
Molecular
Reagents
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  • All nucleic 55
    Genomic 1
    cDNA 51
    Primer pair 3

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-19449, MGD-MRK-3718, MGI:2145817
References
more
  • Summaries
    All 120
    Developmental Gene Expression 19
    Diseases 4
    Gene Ontology 7
    Phenotypes 72
  • Earliest
    J:19401 Swaroop A, et al., A conserved retina-specific gene encodes a basic motif/leucine zipper domain. Proc Natl Acad Sci U S A. 1992 Jan 1;89(1):266-70
  • Latest
    J:233723 Ding XQ, et al., The B3 Subunit of the Cone Cyclic Nucleotide-gated Channel Regulates the Light Responses of Cones and Contributes to the Channel Structural Flexibility. J Biol Chem. 2016 Apr 15;291(16):8721-34

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory