Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23114
Gene name Gene Name - the full gene name approved by the HGNC.
Neurofascin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NFASC
Synonyms (NCBI Gene) Gene synonyms aliases
NEDCPMD, NF, NRCAML
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDCPMD
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q32.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs754724304 T>A,G Pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
rs755160624 C>T Pathogenic Intron variant, coding sequence variant, stop gained, genic downstream transcript variant
rs767453033 G>A,C Pathogenic Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT725328 hsa-miR-497-3p HITS-CLIP 19536157
MIRT725326 hsa-miR-140-3p HITS-CLIP 19536157
MIRT725325 hsa-miR-4496 HITS-CLIP 19536157
MIRT725324 hsa-miR-5088-5p HITS-CLIP 19536157
MIRT725323 hsa-miR-4446-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 23897819
GO:0005886 Component Plasma membrane IDA 30850329
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane IEA
GO:0005925 Component Focal adhesion HDA 21423176
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609145 29866 ENSG00000163531
Protein
UniProt ID O94856
Protein name Neurofascin
Protein function Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance, synaptogenesis, myelination and neuron-glial cell interactions.
PDB 3P3Y , 3P40
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13927 Ig_3 40 122 Domain
PF00047 ig 146 222 Immunoglobulin domain Domain
PF13927 Ig_3 243 320 Domain
PF13927 Ig_3 340 412 Domain
PF07679 I-set 434 518 Immunoglobulin I-set domain Domain
PF07679 I-set 522 609 Immunoglobulin I-set domain Domain
PF00041 fn3 629 714 Fibronectin type III domain Domain
PF00041 fn3 729 813 Fibronectin type III domain Domain
PF00041 fn3 827 920 Fibronectin type III domain Domain
PF00041 fn3 933 1018 Fibronectin type III domain Domain
PF00041 fn3 1118 1195 Fibronectin type III domain Domain
PF13882 Bravo_FIGEY 1239 1323 Bravo-like intracellular region Domain
Sequence
MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNIL
IECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFA
RN
KFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSM
EPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHT
IQQKNPFTLKVLTTRGVA
ERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKA
LRITNVSEEDSGEYFCLASN
KMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRA
NGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSN
EHGYLLAN
AFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHV
YENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEV
KDPTRIYRMPEDQVARRGTTVQ
LECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQ
DLAKAYLTV
LADQATPTNRLAALPKGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITD
YVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPS
LPSERY
RTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVT
VWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEP
ESVIGYSGEDYPRAAPTEVKVRVMNST
AISLQWNRVYSDTVQGQLREYRAYYWRESSLLKNLWVSQKRQQASFPGDRLRGVVSRLFP
YSNYKLEMVVVNGRGDGPRS
ETKEFTTPEGVPSAPRRFRVRQPNLETINLEWDHPEHPNG
IMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEA
VT
EESPAPPNEATPTAAPPTLPPTTVGATGAVSSTDATAIAATTEATTVPIIPTVAPTTIAT
TTTVATTTTTTAAATTTTESPPTTTSGTKIHESAPDEQSIWNVTVLPNSKWANITWKHNF
GPGTDFVVEYIDSNHTKKTVPVKAQAQPIQLTDLYPGMTYTLRVYSRDNEGISST
VITFM
TSTAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPED
PKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYT
VKK
DKEETEGNESSEATSPVNAIYSLA
Sequence length 1347
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cell adhesion molecules   Neurofascin interactions
Neutrophil degranulation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
20218926
Unknown
Disease term Disease name Evidence References Source
Dental caries Dental caries GWAS
Tremor Tremor GWAS
Leprosy Leprosy GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Associate 35370935
Adenomyosis Associate 19368910
Amyotrophic Lateral Sclerosis Associate 12730211, 24704493, 29959860, 30029677, 32515902
Autoimmune Diseases Associate 29187518
Autoimmune Diseases of the Nervous System Associate 29187518
Basal Ganglia Diseases Associate 21278408
Bipolar Disorder Associate 40123161
Breast Neoplasms Associate 25169499, 35403930
Carcinoma Hepatocellular Associate 31163018
Carcinoma Merkel Cell Associate 30349028