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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 axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels... See more...
Aliases for NFASC Gene
Aliases for NFASC Gene
External Ids for NFASC Gene
- HGNC: 29866
- Entrez Gene: 23114
- Ensembl: ENSG00000163531
- OMIM: 609145
- UniProtKB: O94856
Previous GeneCards Identifiers for NFASC Gene
- GC01P202615
- GC01P200351
- GC01P201158
- GC01P202067
- GC01P201645
- GC01P203064
- GC01P204797
- GC01P175963
Summaries for NFASC 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 axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined.[provided by RefSeq, May 2009]
GeneCards Summary for NFASC Gene
NFASC (Neurofascin) is a Protein Coding gene. Diseases associated with NFASC include Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction and Demyelinating Polyneuropathy. Among its related pathways are Developmental Biology and L1CAM interactions. Gene Ontology (GO) annotations related to this gene include protein binding involved in heterotypic cell-cell adhesion. An important paralog of this gene is NRCAM.
UniProtKB/Swiss-Prot Summary for NFASC Gene
-
Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance, synaptogenesis, myelination and neuron-glial cell interactions.
Additional gene information for NFASC Gene
- Monarch Initiative
- Search for NFASC at DataMed
- Search for NFASC at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NFASC Gene
Genomics for NFASC Gene
GeneHancer (GH) Regulatory Elements for NFASC Gene
Promoters and enhancers for NFASC Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around NFASC on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the NFASC gene promoter:
-
- NF-1
- Nkx2-5
- p300
- Sp1
- STAT3
Genomic Locations for NFASC Gene
Genomic Locations for NFASC Gene
- chr1:204,828,651-205,022,822
- (GRCh38/hg38)
- Size:
- 194,172 bases
- Orientation:
- Plus strand
- chr1:204,797,779-204,991,950
- (GRCh37/hg19)
- Size:
- 194,172 bases
- Orientation:
- Plus strand
Genomic View for NFASC Gene
Genes around NFASC on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q32.1 by HGNC
- 1q32.1 by Entrez Gene
- 1q32.1 by Ensembl
NFASC Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NFASC Gene
Proteins for NFASC Gene
-
Protein details for NFASC Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O94856-NFASC_HUMAN
- Recommended name:
- Neurofascin
- Protein Accession:
- O94856
- B2RNN8
- B3KQZ1
- B5MDP6
- B5MDR6
- B7ZMD8
- Q149P5
- Q5T2F0
- Q5T2F1
- Q5T2F2
- Q5T2F3
- Q5T2F4
- Q5T2F5
- Q5T2F6
- Q5T2F7
- Q5T2F9
- Q5T2G0
- Q5W9F8
- Q68DH3
- Q6ZQV6
- Q7Z3K1
- Q96HT1
- Q96K50
Protein attributes for NFASC Gene
- Size:
- 1347 amino acids
- Molecular mass:
- 150027 Da
- Quaternary structure:
-
- Horseshoe-shaped homodimer. Probable constituent of a NFASC/NRCAM/ankyrin-G complex. Associates with the sodium channel beta-1 (SCN1B) and beta-3 (SCN3B) subunits. Interacts with GLDN/gliomedin (By similarity). Interacts with MYOC.
- SequenceCaution:
-
- Sequence=BAA34476.3; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB55195.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC87577.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for NFASC Gene
Post-translational modifications for NFASC Gene
Other Protein References for NFASC Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- NP_001005388.2
- XP_005245048.2
- XP_005245049.2
- XP_011507622.1
- XP_011507614.1
- XP_024310065.1
- XP_011507630.2
- XP_005245050.2
- XP_011507613.2
- XP_011507623.2
- XP_024310068.1
- XP_016856227.1
- NP_001153805.1
- NP_001005389.2
- XP_024310053.1
- XP_011507621.1
- XP_011507616.1
- XP_016856232.1
- XP_016856222.1
- XP_024310060.1
- XP_024310070.1
- XP_016856228.1
- XP_024310056.1
- XP_024310069.1
- XP_011507624.2
- XP_011507625.2
- XP_011507618.1
- NP_055905.2
- NP_001153803.1
- XP_011507627.2
- NP_001352915.1
- XP_016856223.1
- XP_024310051.1
- XP_016856229.1
- XP_011507620.1
- XP_016856230.1
- XP_005245046.2
- XP_024310064.1
- XP_024310067.1
- XP_005245054.2
- XP_011507628.2
- NP_001153804.1
- XP_016856231.1
- XP_011507629.2
Antibody Products
- G Biosciences Immunotag™ NFASC Antibody
- Atlas Antibodies Anti-NFASC Antibody
- GeneTex Anti-Neurofascin 155 antibody
- Novus Biologicals Antibodies for NFASC
-
Abcam antibodies for NFASC
- Invitrogen Antibodies for NFASC (AFLGC-NFASC)
- antibodies-online: Show 9 available NFASC Antibodies ranked by validation data
- Compare Top NFASC Antibodies
-
Recommended
- 39 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 1 FACS Antibody (anti-human)
- 1 IHC Antibody (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 15 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 20 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
- Sino Biological Antibodies for NFASC
Protein Products
- Atlas Antibodies PrEST Antigen NFASC
- Creative Diagnostics Rat NFASC peptide
- Search Origene for MassSpec and Protein Over-expression Lysates for NFASC
- Origene Custom Protein Services for NFASC
- Novus Biologicals proteins for NFASC
- Sino Biological Recombinant Proteins for NFASC
- Sino Biological Cell Lysates for NFASC
-
Abcam proteins for NFASC
No data available for DME Specific Peptides for NFASC Gene
Domains & Families for NFASC Gene
Gene Families for NFASC Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted membrane proteins
- Predicted secreted proteins
Protein Domains for NFASC Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for NFASC Gene
- GenScript: Design optimal peptide antigens:
-
- Neurofascin (NFASC_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O94856UniProtKB/Swiss-Prot:
NFASC_HUMAN :- Homophilic adhesion is primarily mediated by the interaction of the second Ig-like domains.
- Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.
- Domain:
-
- Homophilic adhesion is primarily mediated by the interaction of the second Ig-like domains.
- Family:
-
- Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.
Function for NFASC Gene
Molecular function for NFASC Gene
- UniProtKB/Swiss-Prot Function:
- Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance, synaptogenesis, myelination and neuron-glial cell interactions.
Phenotypes From GWAS Catalog for NFASC Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 23897819 |
| GO:0019904 | protein domain specific binding | IEA | -- |
| GO:0086080 | protein binding involved in heterotypic cell-cell adhesion | IEA | -- |
Phenotypes for NFASC Gene
- MGI mutant phenotypes for NFASC:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for NFASC:
Animal Models for NFASC Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for NFASC
CRISPR Products
-
OriGene CRISPR knockouts for NFASC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NFASC
- genomics-online: gRNA clones - Search results for available NFASC gene related products
- Applied Biological Materials (abm): CRISPR Clones for NFASC - Select products 50% OFF >
- * NFASC CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * NFASC CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for NFASC
miRNA for NFASC Gene
- miRTarBase miRNAs that target NFASC
-
- hsa-mir-8082 (MIRT487174)
- hsa-mir-6811-5p (MIRT487175)
- hsa-mir-6511b-5p (MIRT487176)
- hsa-mir-6887-5p (MIRT487177)
- hsa-mir-6795-5p (MIRT487178)
- hsa-mir-7111-5p (MIRT487179)
- hsa-mir-6870-5p (MIRT487180)
- hsa-mir-4723-5p (MIRT487181)
- hsa-mir-5698 (MIRT487182)
- hsa-mir-939-5p (MIRT487183)
- hsa-mir-1343-5p (MIRT487184)
- hsa-mir-6726-5p (MIRT487185)
- hsa-mir-920 (MIRT487186)
- hsa-mir-5591-5p (MIRT487187)
- hsa-mir-4300 (MIRT487188)
- hsa-mir-8059 (MIRT487189)
- hsa-mir-4471 (MIRT487190)
- hsa-mir-1292-5p (MIRT487191)
- hsa-mir-6722-3p (MIRT487192)
- hsa-mir-4327 (MIRT487193)
- hsa-mir-1909-3p (MIRT487194)
- hsa-mir-6836-5p (MIRT487195)
- hsa-mir-6132 (MIRT487196)
- hsa-mir-4487 (MIRT487197)
- hsa-mir-4646-5p (MIRT487198)
- hsa-mir-204-3p (MIRT487199)
- hsa-mir-6798-5p (MIRT487200)
- hsa-mir-7851-3p (MIRT487201)
- hsa-mir-490-3p (MIRT487202)
- hsa-mir-4290 (MIRT655872)
- hsa-mir-6825-5p (MIRT655873)
- hsa-mir-423-5p (MIRT655874)
- hsa-mir-3184-5p (MIRT655875)
- hsa-mir-5695 (MIRT655876)
- hsa-mir-342-3p (MIRT655877)
- hsa-mir-7113-5p (MIRT655878)
- hsa-mir-1228-3p (MIRT655879)
- hsa-mir-4640-3p (MIRT655880)
- hsa-mir-6893-3p (MIRT655881)
- hsa-mir-370-3p (MIRT655882)
- hsa-mir-1296-5p (MIRT725319)
- hsa-mir-2909 (MIRT725320)
- hsa-mir-4656 (MIRT725321)
- hsa-mir-3158-3p (MIRT725322)
- hsa-mir-4446-3p (MIRT725323)
- hsa-mir-5088-5p (MIRT725324)
- hsa-mir-4496 (MIRT725325)
- hsa-mir-140-3p (MIRT725326)
- hsa-mir-497-3p (MIRT725328)
- hsa-mir-181b-3p (MIRT733747)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for NFASC
- Browse OriGene Inhibitory RNA Products For NFASC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NFASC
- genomics-online: shRNA clones - Search results for available NFASC gene related products
Clone Products
-
- MG220931
- MG220935
- MG221047
- MG223174
- MR220931
- MR220931L3
- MR220931L3V
- MR220931L4
- MR220931L4V
- MR220935
- MR220935L3
- MR220935L3V
- MR220935L4
- MR220935L4V
- MR221047
- MR221047L3
- MR221047L3V
- MR221047L4
- MR221047L4V
- MR223174
- MR223174L3
- MR223174L3V
- MR223174L4
- MR223174L4V
- RC214686
- RC228501
- RC228501L3
- RC228501L3V
- RC228501L4
- RC228501L4V
- RC228506
- RC228506L3
- RC228506L3V
- RC228506L4
- RC228506L4V
- RC228648
- RC228652
- RC228652L1
- RC228652L1V
- RC228652L2
- RC228652L2V
- RC228652L3
- RC228652L3V
- RC228652L4
- RC228652L4V
- RC229070
- RC229070L3
- RC229070L3V
- RC229070L4
- RC229070L4V
- RG214686
- RG228501
- RG228506
- RG228648
- RG228652
- RG229070
- RR214024
- RR217514
- RR217536
- RR217559
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NFASC
- genomics-online: cdna clones - Search results for available NFASC gene related products
- orf clones - Search results for available NFASC gene related products
- Applied Biological Materials (abm): Clones for NFASC - Select products 50% OFF >
- * NFASC as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * NFASC tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for NFASC
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NFASC Gene
Localization for NFASC Gene
Subcellular locations from UniProtKB/Swiss-Prot for NFASC Gene
- Cell membrane; Single-pass type I membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | IEA | -- |
| GO:0005925 | focal adhesion | HDA | 21423176 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for NFASC Gene
Pathways & Interactions for NFASC Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Innate Immune System |
.61
|
|
| 2 | Developmental Biology |
.51
|
|
| 3 | L1CAM interactions | ||
| 4 | Neuroscience | ||
| 5 | Cell adhesion molecules (CAMs) | ||
Pathways by source for NFASC Gene
8 Reactome pathways for NFASC Gene
1 KEGG pathway for NFASC Gene
1 Cell Signaling Technology pathway for NFASC Gene
Interacting Proteins for NFASC Gene
GPS-Prot Interaction Network for NFASC
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002175 | protein localization to paranode region of axon | IEA | -- |
| GO:0007155 | cell adhesion | IEA | -- |
| GO:0007411 | axon guidance | IEA | -- |
| GO:0007422 | peripheral nervous system development | ISS | -- |
| GO:0019226 | transmission of nerve impulse | IEA | -- |
No data available for SIGNOR curated interactions for NFASC Gene
Drugs & Compounds for NFASC Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|
Transcripts for NFASC Gene
mRNA/cDNA for NFASC Gene
- (8) REFSEQ mRNAs :
- (27) Additional mRNA sequences :
- (188) Selected AceView cDNA sequences:
- (25) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000404977 4917 bps (ENST00000404977.6)
- ENST00000403080 2462 bps (ENST00000403080.5)
- ENST00000493914 683 bps (ENST00000493914.5)
- ENST00000404076 5728 bps (ENST00000404076.5)
- ENST00000514644 2225 bps (ENST00000514644.5)
CRISPR Products
-
OriGene CRISPR knockouts for NFASC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NFASC
- genomics-online: gRNA clones - Search results for available NFASC gene related products
- Applied Biological Materials (abm): CRISPR Clones for NFASC - Select products 50% OFF >
- * NFASC CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * NFASC CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for NFASC
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for NFASC
- Browse OriGene Inhibitory RNA Products For NFASC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NFASC
- genomics-online: shRNA clones - Search results for available NFASC gene related products
Clone Products
-
- MG220931
- MG220935
- MG221047
- MG223174
- MR220931
- MR220931L3
- MR220931L3V
- MR220931L4
- MR220931L4V
- MR220935
- MR220935L3
- MR220935L3V
- MR220935L4
- MR220935L4V
- MR221047
- MR221047L3
- MR221047L3V
- MR221047L4
- MR221047L4V
- MR223174
- MR223174L3
- MR223174L3V
- MR223174L4
- MR223174L4V
- RC214686
- RC228501
- RC228501L3
- RC228501L3V
- RC228501L4
- RC228501L4V
- RC228506
- RC228506L3
- RC228506L3V
- RC228506L4
- RC228506L4V
- RC228648
- RC228652
- RC228652L1
- RC228652L1V
- RC228652L2
- RC228652L2V
- RC228652L3
- RC228652L3V
- RC228652L4
- RC228652L4V
- RC229070
- RC229070L3
- RC229070L3V
- RC229070L4
- RC229070L4V
- RG214686
- RG228501
- RG228506
- RG228648
- RG228652
- RG229070
- RR214024
- RR217514
- RR217536
- RR217559
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NFASC
- genomics-online: cdna clones - Search results for available NFASC gene related products
- orf clones - Search results for available NFASC gene related products
- Applied Biological Materials (abm): Clones for NFASC - Select products 50% OFF >
- * NFASC as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * NFASC tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | · | 19c | · | 19d | ^ | 20a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: |
| ExUns: | 20b | ^ | 21 | ^ | 22a | · | 22b | ^ | 23a | · | 23b | ^ | 24a | · | 24b | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b | · | 29c | · | 29d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | |||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | ||||||||||||||||||||||||
| SP6: | - | - | |||||||||||||||||||||||||||||
| SP7: | - | - | - | ||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||
| SP11: |
Expression for NFASC Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Peripheral Nervous System (Nervous System)
- Myelinating Schwann Cells Peripheral Nerve Domain
-
Glial Cells
- Myelinating Schwann Cells Peripheral Nerve Domain
- Eye (Sensory Organs)
This gene is overexpressed in Frontal cortex (27.2), Brain (26.5), and Spinal cord (10.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NFASC Gene
NURSA nuclear receptor signaling pathways regulating expression of NFASC Gene:
NFASCSOURCE GeneReport for Unigene cluster for NFASC Gene:
Hs.13349Evidence on tissue expression from TISSUES for NFASC Gene
- Nervous system(5)
- Eye(2.4)
Primer Products
-
OriGene qPCR primer pairs for NFASC
- genomics-online: primer clones - Search results for available NFASC gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NFASC Gene
Orthologs for NFASC Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | NFASC 33 32 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Nfasc 32 |
|
||
| mouse (Mus musculus) |
Mammalia | Nfasc 17 33 32 |
|
||
| dog (Canis familiaris) |
Mammalia | NFASC 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | NFASC 33 32 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | NFASC 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | NFASC 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | NFASC 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | NFASC 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | nfasc 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | nfasca 33 32 |
|
OneToMany | |
| NFASC (1 of 2) 33 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Nrg 34 |
|
|
|
| worm (Caenorhabditis elegans) |
Secernentea | lad-1 34 |
|
|
- Species where no ortholog for NFASC was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for NFASC Gene
- ENSEMBL:
- Gene Tree for NFASC (if available)
- TreeFam:
- Gene Tree for NFASC (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for NFASC: view image
Paralogs for NFASC Gene
Paralogs for NFASC Gene
(8) SIMAP similar genes for NFASC Gene using alignment to 12 proteins:
- NFASC_HUMAN
- D6RBU5_HUMAN
- D6RHX4_HUMAN
- F8W791_HUMAN
- F8W792_HUMAN
- F8W8X7_HUMAN
- F8W9B6_HUMAN
- F8WAT1_HUMAN
- H7BY57_HUMAN
- H7C073_HUMAN
- H7C0L6_HUMAN
- J3QSX2_HUMAN
Variants for NFASC Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs754724304 | pathogenic, NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION | 205,009,632(+) | T/A/G | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs755160624 | pathogenic, NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION | 204,984,059(+) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, stop_gained | |
| rs767453033 | pathogenic, NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION | 204,970,688(+) | G/A/C | 5_prime_UTR_variant, coding_sequence_variant, missense_variant | |
| rs1000002563 | -- | 204,896,484(+) | C/T | genic_upstream_transcript_variant, intron_variant | |
| rs1000046872 | -- | 204,943,063(+) | G/A | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1007437 | CNV | deletion | 20482838 |
| esv3305977 | CNV | mobile element insertion | 20981092 |
| esv3376336 | CNV | insertion | 20981092 |
| esv3588627 | CNV | gain | 21293372 |
| nsv1003949 | CNV | gain | 25217958 |
| nsv1004125 | CNV | gain | 25217958 |
| nsv1127054 | CNV | deletion | 24896259 |
| nsv4165 | CNV | insertion | 18451855 |
| nsv521899 | CNV | loss | 19592680 |
| nsv549041 | CNV | loss | 21841781 |
| nsv999463 | CNV | gain | 25217958 |
Residual Variation Intolerance Score:
3.39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
9.54;
88.88% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NFASC Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NFASC Gene
Disorders for NFASC Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neurodevelopmental disorder with central and peripheral motor dysfunction |
|
|
| demyelinating polyneuropathy |
|
|
| autoimmune neuropathy |
|
|
| plexopathy |
|
|
| chronic inflammatory demyelinating polyneuropathy |
|
|
Search NFASC in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for NFASC
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for NFASC Gene
Publications for NFASC Gene
- Myocilin mediates myelination in the peripheral nervous system through ErbB2/3 signaling. (PMID: 23897819) Kwon HS … Tomarev SI (The Journal of biological chemistry 2013) 3 4 56
- Homophilic adhesion mechanism of neurofascin, a member of the L1 family of neural cell adhesion molecules. (PMID: 21047790) Liu H … He X (The Journal of biological chemistry 2011) 3 4 56
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
- Dengue hemorrhagic fever is associated with polymorphisms in JAK1. (PMID: 20588308) Silva LK … Teixeira MG (European journal of human genetics : EJHG 2010) 3 43 56
- Novel forms of neurofascin 155 in the central nervous system: alterations in paranodal disruption models and multiple sclerosis. (PMID: 20129933) Pomicter AD … Dupree JL (Brain : a journal of neurology 2010) 3 23 56
ExternalLinks
Products for NFASC Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for NFASC
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- Browse OriGene Inhibitory RNA Products For NFASC
- OriGene qPCR primer pairs for NFASC
- OriGene CRISPR knockouts for NFASC
- MG220931
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- MG221047
- MG223174
- MR220931
- MR220931L3
- MR220931L3V
- MR220931L4
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- MR220935
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- MR221047
- MR221047L3
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- MR221047L4
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- MR223174
- MR223174L3
- MR223174L3V
- MR223174L4
- MR223174L4V
- RC214686
- RC228501
- RC228501L3
- RC228501L3V
- RC228501L4
- RC228501L4V
- RC228506
- RC228506L3
- RC228506L3V
- RC228506L4
- RC228506L4V
- RC228648
- RC228652
- RC228652L1
- RC228652L1V
- RC228652L2
- RC228652L2V
- RC228652L3
- RC228652L3V
- RC228652L4
- RC228652L4V
- RC229070
- RC229070L3
- RC229070L3V
- RC229070L4
- RC229070L4V
- RG214686
- RG228501
- RG228506
- RG228648
- RG228652
- RG229070
- RR214024
- RR217514
- RR217536
- RR217559
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For NFASC
- Browse Sino Biological cDNA Clones
- Sino Biological Recombinant Proteins for NFASC
- Sino Biological Cell Lysates for NFASC
- Sino Biological Antibodies for NFASC
- Browse Sino Biological Assays
- Browse Recombinant Proteins
- Browse Antibodies
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for NFASC
- Novus Biologicals proteins for NFASC
- Browse Antibodies
- Browse Peptides and Proteins
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- Abcam antibodies for NFASC
- Abcam proteins for NFASC
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- Browse Primary Antibodies
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- Taconic Biosciences Mouse Models for NFASC
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for NFASC (AFLGC-NFASC)
- antibodies-online: Show 9 available NFASC Antibodies ranked by validation data
- Compare Top NFASC Antibodies
- Recommended
- 39 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 1 FACS Antibody (anti-human)
- 1 IHC Antibody (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 15 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 20 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
- antibodies-online: Show 16 available NFASC Elisa Kits ranked by validation data
- Compare Top NFASC Elisa Kits
- antibodies-online: Show 14 available NFASC Proteins ranked by validation data
- Compare Top NFASC Proteins
- Horizon Cell Lines for NFASC
- genomics-online: cdna clones - Search results for available NFASC gene related products
- orf clones - Search results for available NFASC gene related products
- genomics-online: gRNA clones - Search results for available NFASC gene related products
- genomics-online: primer clones - Search results for available NFASC gene related products
- genomics-online: shRNA clones - Search results for available NFASC gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NFASC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NFASC
- Search GeneCopoeia for miRNA 3'UTR Target clone products for NFASC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NFASC
Sources for NFASC Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource