NRL (neural retina leucine zipper)

2019-04-01  

Identity

HGNC
NRL
LOCATION
14q11.2
LOCUSID
4901
ALIAS
D14S46E,NRL-MAF,RP27
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4901
MIM: 162080
HGNC: 8002
Ensembl: ENSG00000129535

Variants:

dbSNP: 4901
ClinVar: 4901
TCGA: ENSG00000129535
COSMIC: NRL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000129535ENST00000396995P54845
ENSG00000129535ENST00000396997P54845
ENSG00000129535ENST00000397002P54845
ENSG00000129535ENST00000558280H0YNW2
ENSG00000129535ENST00000560550P54845
ENSG00000129535ENST00000561028P54845

Expression (GTEx)

0
1
2
3
4
5
6
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
retina
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA283MAPK8GenePathwayassociated23922006
PA30621MAPK14GenePathwayassociated23922006

References

Pubmed IDYearTitleCitations
356934222022Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa.3
356934222022Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa.3
334008442021NRL(-/-) gene edited human embryonic stem cells generate rod-deficient retinal organoids enriched in S-cone-like photoreceptors.15
334008442021NRL(-/-) gene edited human embryonic stem cells generate rod-deficient retinal organoids enriched in S-cone-like photoreceptors.15
320819192020Investigating cone photoreceptor development using patient-derived NRL null retinal organoids.41
320819192020Investigating cone photoreceptor development using patient-derived NRL null retinal organoids.41
295337842018NRL and CRX Define Photoreceptor Identity and Reveal Subgroup-Specific Dependencies in Medulloblastoma.36
295337842018NRL and CRX Define Photoreceptor Identity and Reveal Subgroup-Specific Dependencies in Medulloblastoma.36
281068952017Identification of a novel NRL mutation in a Chinese family with retinitis pigmentosa by whole-exome sequencing.4
285907792017Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes.0
281068952017Identification of a novel NRL mutation in a Chinese family with retinitis pigmentosa by whole-exome sequencing.4
285907792017Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes.0
270812942016Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa.8
277327232016Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome.15
270812942016Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa.8

Citation

Dessen P

NRL (neural retina leucine zipper)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57947