NRAP (nebulin related anchoring protein)

2014-11-01  

Identity

HGNC
LOCATION
10q25.3
LOCUSID
ALIAS
N-RAP

Other Information

Locus ID:

NCBI: 4892
MIM: 602873
HGNC: 7988
Ensembl: ENSG00000197893

Variants:

dbSNP: 4892
ClinVar: 4892
TCGA: ENSG00000197893
COSMIC: NRAP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197893ENST00000359988Q86VF7
ENSG00000197893ENST00000360478Q86VF7
ENSG00000197893ENST00000369358A0A0A0MRM2
ENSG00000197893ENST00000369360Q86VF7

Expression (GTEx)

0
500
1000
1500

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
127896642003Genomic organization, alternative splicing, and expression of human and mouse N-RAP, a nebulin-related LIM protein of striated muscle.13
208088252010Novel association strategy with copy number variation for identifying new risk Loci of human diseases.11
286113992017Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy.4

Citation

Dessen P

NRAP (nebulin related anchoring protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70962/nrap