NFASC (neurofascin)

2014-08-01   Dessen P  

Identity

HGNC
NFASC
LOCATION
1q32.1
LOCUSID
23114
ALIAS
NEDCPMD,NF,NRCAML
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23114
MIM: 609145
HGNC: 29866
Ensembl: ENSG00000163531

Variants:

dbSNP: 23114
ClinVar: 23114
TCGA: ENSG00000163531
COSMIC: NFASC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163531ENST00000339876O94856
ENSG00000163531ENST00000360049O94856
ENSG00000163531ENST00000367173H7BY57
ENSG00000163531ENST00000401399O94856
ENSG00000163531ENST00000403080O94856
ENSG00000163531ENST00000404076O94856
ENSG00000163531ENST00000404907O94856
ENSG00000163531ENST00000413225H7C073
ENSG00000163531ENST00000425360H7C0L6
ENSG00000163531ENST00000430393X6RKN2
ENSG00000163531ENST00000447819A0A0C4DG92
ENSG00000163531ENST00000504476D6RBU5
ENSG00000163531ENST00000505079D6RHX4
ENSG00000163531ENST00000513543O94856
ENSG00000163531ENST00000539706O94856

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cell adhesion molecules (CAMs)KEGGko04514
Cell adhesion molecules (CAMs)KEGGhsa04514
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
L1CAM interactionsREACTOMER-HSA-373760
Interaction between L1 and AnkyrinsREACTOMER-HSA-445095
Neurofascin interactionsREACTOMER-HSA-447043
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
319457342020Case report of two children with auditory neuropathy spectrum disorder related to a neurofascin (NFASC) gene variant.0
319457342020Case report of two children with auditory neuropathy spectrum disorder related to a neurofascin (NFASC) gene variant.0
308503292019Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.14
315019032019Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.22
308503292019Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.14
315019032019Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.22
301248362018Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia.15
301248362018Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia.15
284181792017Copy number variation, increased gene expression, and molecular mechanisms of neurofascin in lung cancer.11
285751982017Autoantibodies to nodal isoforms of neurofascin in chronic inflammatory demyelinating polyneuropathy.62
284181792017Copy number variation, increased gene expression, and molecular mechanisms of neurofascin in lung cancer.11
285751982017Autoantibodies to nodal isoforms of neurofascin in chronic inflammatory demyelinating polyneuropathy.62
268435592016Neurofascin-155 IgG4 in chronic inflammatory demyelinating polyneuropathy.86
268435592016Neurofascin-155 IgG4 in chronic inflammatory demyelinating polyneuropathy.86
245234852014Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg.109

Citation

Dessen P

NFASC (neurofascin)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54499/nfasc-(neurofascin)