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 |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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 |
|
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.
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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 |
|
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Dysarthria |
Dysarthria |
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Glossoptosis |
Glossoptosis |
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