NRAP (nebulin related anchoring protein)

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Gene Gene information from NCBI Gene database.
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Entrez ID 4892
Gene name Nebulin related anchoring protein
Gene symbol NRAP
Synonyms (NCBI Gene)
N-RAP
Chromosome 10
Chromosome location 10q25.3
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT1193112 hsa-miR-1266 CLIP-seq
MIRT1193113 hsa-miR-3176 CLIP-seq
MIRT1193114 hsa-miR-3183 CLIP-seq
MIRT1193115 hsa-miR-326 CLIP-seq
MIRT1193116 hsa-miR-330-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0003779 Function Actin binding ISS
GO:0003779 Function Actin binding NAS 9339382
GO:0005515 Function Protein binding IPI 15205937, 23414517, 30986853
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
602873 7988 ENSG00000197893
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86VF7
Protein name Nebulin-related-anchoring protein (N-RAP)
Protein function May be involved in anchoring the terminal actin filaments in the myofibril to the membrane and in transmitting tension from the myofibrils to the extracellular matrix.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00412 LIM 6 → 61 LIM domain Domain
PF00880 Nebulin 493 → 520 Nebulin repeat Repeat
PF00880 Nebulin 528 → 555 Nebulin repeat Repeat
PF00880 Nebulin 209 → 238 Nebulin repeat Repeat
PF00880 Nebulin 1046 → 1073 Nebulin repeat Repeat
PF00880 Nebulin 564 → 591 Nebulin repeat Repeat
PF00880 Nebulin 767 → 794 Nebulin repeat Repeat
PF00880 Nebulin 316 → 342 Nebulin repeat Repeat
PF00880 Nebulin 842 → 868 Nebulin repeat Repeat
PF00880 Nebulin 1254 → 1280 Nebulin repeat Repeat
PF00880 Nebulin 803 → 832 Nebulin repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in cardiac and skeletal muscle. {ECO:0000269|PubMed:12789664}.
Sequence 
MNVQPCSRCGYGVYPAEKISCIDQIWHKACFHCEVCKMMLSVNNFVSHQKKPYCHAHNPK
NNTFTSVYHTPLNLNVRTFPEAISGIHDQEDGEQCKSVFHWDMKSKDKEGAPNRQPLANE
RAYWTGYGEGNAWCPGALPDPEIVRMVEARKSLGEEYTEDYEQPRGKGSFPAMITPAYQR
AKKANQLASQVEYKRGHDERISRFSTVVDTPELLRSKAGAQLQSDVRYTEDYEQQRGKGS
FPAMITPAYQIAKRANELASDVRYHQQYQKEMRGMAGPAIGAEGILTRECADQYGQGYPE
EYEEHRGKGSFPAMITPAYQNAKKAHELASDIKYRQDFNKMKGAAHYHSLPAQDNLVLKQ
AQSVNKLVSEVEYKKDLESSRGHSINYCETPQFRNVSKISKFTSDNKYKENYQNHMRGRY
EGVGMDRRTLHAMKVGSLASNVAYKADYKHDIVDYNYPATLTPSYQTAMKLVPLKDANYR
QSIDKLKYSSVTDTPQIVQAKINAQQLSHVNYRADYEKNKLNYTLPQDVPQLVKAKTNAK
LFSEVKYKEGWEKTKGKGFEMKLDAMSLLAAKASGELASNIKYKEEYEKTKGKAMGTADS
RLLHSLQIAKMSSEVEYKKGFEESKTRFHLPMDMVNIRHAKKAQTLASDLDYRKKLHEYT
VLPEDMKTQWAKKAYGLQSELQYKADLAWMKGVGWLTEGSLNLEQAKKAGQLVSEKNYRQ
RVDELKFTSVTDSSQMEHAKKSQELQSGVAYKAGNEQSVHQYTISKDEPLFLQARANAAN
LSEKLYKSSWENQKAKGFELRLDSLTFLAAKAKRDLASEVKYKEDYERSRGKLIGAKDVQ
GDSQMSHSLQMSKLQSELEYKKGFEDTKSQCHVSLDMVHLVHARKAQHLATDVGYKTAEH
HFTALPTDMKVEWAKKAYGLQSDNQYRADVKWMKGMGWVATGSLNVEQAKKAGELISEKK
YRQHPDALKFTSIKDTPEMVQARISYTQAVDRLYREQGENIKHHYTPTADLPEVLLAKLN
AMNISETRYKESWSKLRDGGYKLRLDALPFQAAKASGEIISDYKYKEAFEKMKGQMLGSR
SLEDDISLAHSVYATSLQSDVNYKKGFEHSKAQFHLPLDMAALVHAKKAQTLASNQDYKH
PLPQYTSLAEDLRLSCAKKAHKLQSENLYRSDLNFMRGVACVIPGTLEIEGRKKASELIS
ESKYRQHPHSFKYTAVTDTPNLLHAKFSNQITNERLYKAAGEDARHEYTMTLGLPEFIRA
KTNAANLSDARYKESWRNLRAQGYKLTIEALPFQAARASGDIASDFLYRHDFVKERGKLI
GPQSVRDDPRIQHCRRMGQLQSELQYRRGATSSQAQFHLPMDMVHLVHAKNAQALASDHD
YRTQYHKFTALPEDLKMAWAKKAHALQSELRYKSDLIGMKGIGWLALRSPQMESAKKAGE
LISETKYRKKPDSIKFTTVVDSPDLVHAKNSYMHCNERMYRSGDAESLHRYTLIPDHPDF
TRARLNALHLSDKVYRNSWEQTRAGSYDFRLDAIPFQTARASREIASDFRYKEAFLRDRG
LQIGYRSVDDDPRMKHFLNVGRLQSDNEYKKDFAKSRSQFHSSTDQPGLLQAKRSQQLAS
DVHYRQPLPQPTCDPEQLGLRHAQKAHQLQSDVKYKSDLNLTRGVGWTPPGSYKVEMARR
AAELANARGLGLQGAYRGAEAVEAGDHQSGEVNPDATEILHVKKKKALLL
Sequence length 1730
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway
Cytoskeleton in muscle cells
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardiovascular phenotype Likely pathogenic rs199673219, rs777578966 RCV005404215
RCV005405041
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NRAP-related disorder Likely pathogenic rs1592806462 RCV003414145
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy Likely pathogenic rs2133935229 RCV004785556
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (13)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATRIAL FIBRILLATION — GWAS catalog 40050429
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 34446935
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER — GWAS catalog 29059683
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog 29059683
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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MYLK3 1 shared diseaseDilated cardiomyopathy 2 shared evidence sourcesDisgenet (Dilated cardiomyopathy), ClinGen (Dilated cardiomyopathy) Related via 1 shared disease including Dilated cardiomyopathy — evidence mostly Disgenet. PLEKHM2 1 shared diseaseDilated cardiomyopathy 2 shared evidence sourcesDisgenet (Dilated cardiomyopathy), ClinGen (Dilated cardiomyopathy) Related via 1 shared disease including Dilated cardiomyopathy — evidence mostly Disgenet. PDLIM3 1 shared diseaseDilated cardiomyopathy 1 shared pathwayCytoskeleton in muscle cells 2 shared evidence sourcesDisgenet (Dilated cardiomyopathy), ClinGen (Dilated cardiomyopathy) Related via 1 shared disease including Dilated cardiomyopathy — evidence mostly Disgenet. GET3 1 shared diseaseDilated cardiomyopathy 2 shared evidence sourcesDisgenet (Dilated cardiomyopathy), ClinGen (Dilated cardiomyopathy) Related via 1 shared disease including Dilated cardiomyopathy — evidence mostly Disgenet. FLII 1 shared diseaseDilated cardiomyopathy 2 shared evidence sourcesDisgenet (Dilated cardiomyopathy), ClinGen (Dilated cardiomyopathy) Related via 1 shared disease including Dilated cardiomyopathy — evidence mostly Disgenet.
Coronary artery disease Linked via 1 of 5 related genesPLEKHM2 Insomnia Linked via 1 of 5 related genesPLEKHM2 Left ventricular disease Linked via 1 of 5 related genesPLEKHM2 Diabetes mellitus type 2 Linked via 1 of 5 related genesPLEKHM2 Cardiomyopathy Linked via 1 of 5 related genesPDLIM3