GediPNet logo

NFASC (neurofascin)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23114
Gene nameGene Name - the full gene name approved by the HGNC.
Neurofascin
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
NFASC
SynonymsGene synonyms aliases
NEDCPMD, NF, NRCAML
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q32.1
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Cell adhesion molecules   Neurofascin interactions
Neutrophil degranulation
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 20218926
Unknown
Disease name Disease term dbSNP ID References
Anxiety disorder Anxiety
Dysarthria Dysarthria
Glossoptosis Glossoptosis

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412