Aliases for FAS Gene
Aliases for FAS Gene
- Fas Cell Surface Death Receptor 2 3 5
- Tumor Necrosis Factor Receptor Superfamily, Member 6 2 3
- Fas (TNF Receptor Superfamily, Member 6) 2 3
- Apoptosis-Mediating Surface Antigen FAS 3 4
- TNF Receptor Superfamily Member 6 2 3
- FASLG Receptor 3 4
- CD95 Antigen 3 4
- TNFRSF6 3 4
- APT1 3 4
- FAS1 3 4
- Mutant Tumor Necrosis Receptor Superfamily Member 6 3
External Ids for FAS Gene
- HGNC: 11920
- Entrez Gene: 355
- Ensembl: ENSG00000026103
- OMIM: 134637
- UniProtKB: P25445
Previous HGNC Symbols for FAS Gene
- FAS1
- APT1
- TNFRSF6
Previous GeneCards Identifiers for FAS Gene
- GC10P090741
- GC10P084384
Summaries for FAS Gene
-
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]
GeneCards Summary for FAS Gene
FAS (Fas Cell Surface Death Receptor) is a Protein Coding gene. Diseases associated with FAS include Autoimmune Lymphoproliferative Syndrome and Fas-Related Autoimmune Lymphoproliferative Syndrome. Among its related pathways are Bacterial infections in CF airways and Allograft rejection. GO annotations related to this gene include identical protein binding and receptor activity.
UniProtKB/Swiss-Prot for FAS Gene
-
Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAS Gene
Genomics for FAS Gene
Regulatory Elements for FAS Gene
- Transcription factor binding sites by QIAGEN in the FAS gene promoter:
Regulatory Element Products
Genomic Location for FAS Gene
- Chromosome:
- 10
- Start:
- 88,969,801 bp from pter
- End:
- 89,017,059 bp from pter
- Size:
- 47,259 bases
- Orientation:
- Plus strand
Genomic View for FAS Gene
- Cytogenetic band:
-
- 10q23.31 by Ensembl
- 10q23.31 by Entrez Gene
- 10q23.31 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FAS Gene
Proteins for FAS Gene
-
Protein details for FAS Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P25445-TNR6_HUMAN
- Recommended name:
- Tumor necrosis factor receptor superfamily member 6
- Protein Accession:
- P25445
- A9UJX4
- B6VNV4
- Q14292
- Q14293
- Q14294
- Q14295
- Q16652
- Q5T9P1
- Q5T9P2
- Q5T9P3
- Q6SSE9
Protein attributes for FAS Gene
- Size:
- 335 amino acids
- Molecular mass:
- 37732 Da
- Quaternary structure:
-
- Binds DAXX. Interacts with HIPK3. Part of a complex containing HIPK3 and FADD (By similarity). Binds RIPK1 and FAIM2 (PubMed:7538908, PubMed:10535980). Interacts with BRE and FEM1B (PubMed:10542291, PubMed:15465831). Interacts with FADD (PubMed:21109225, PubMed:19118384). Interacts directly (via DED domain) with NOL3 (via CARD domain); inhibits death-inducing signaling complex (DISC) assembly by inhibiting the increase in FAS-FADD binding induced by FAS activation (By similarity). Interacts with CALM (PubMed:24914971).
Three dimensional structures from OCA and Proteopedia for FAS Gene
Protein Expression for FAS Gene
Post-translational modifications for FAS Gene
- N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.
- Glycosylation at isoforms=2, 3, 4, 5, 6, 728, Thr40, isoforms=4, 5, 6, 742, isoforms=2, 3, 4, 5, 6, 746, Asn118, and isoforms=6, 7136
- Modification sites at PhosphoSitePlus
Other Protein References for FAS Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore top FAS Antibody
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for FAS
- R&D Systems Antibodies for FAS (Fas/TNFRSF6/CD95)
- Cell Signaling Technology (CST) Antibodies for FAS (FAS)
-
Custom Antibody ServicesOriGene Antibodies for FAS
- AP15456PU-M
- AP15456PU-N
- TA506937JM
- TA506937HM
- TA506937GM
- TA506937FM
- TA506937EM
- TA506937DM
- TA506937CM
- TA506937BM
- TA506937AM
- TA506903JM
- TA506903HM
- TA506903GM
- TA506903FM
- TA506903EM
- TA506903DM
- TA506903CM
- TA506903BM
- TA506903AM
- TA590390
- CF506937
- TA506937
- CF506903
- TA506903
- TA353724
- TA352389
- TA346945
- TA326787
- TA323754
- TA323753
- TA320327
- TA320326
- TA313382
- TA313381
- TA305714
- SM3105A
- SM1203PT
- SM1203P
- SM1203FT
- SM1203F
- DP065-05
- DP065
- BM2049
- AP32048PU-S
- AP32048PU-N
- AP32048BT-S
- AP32048BT-N
- AP26059PU-S
- AP26059PU-N
- AP18016PU-N
- AP15456PU-S
- AP12762PU-N
- AP06448PU-N
- AP00027PU-N
- AM32313PU-N
- AM32303PU-N
- AM26792PU-N
- AM26792LE-N
- AM08166RP-N
- AM08166PU-N
- AM08166LE-N
- AM08166FC-N
- AM08166BT-N
- AM08166AC-N
- AM08165RP-N
- AM08165PU-N
- AM08165LE-N
- AM08165FC-N
- AM08165BT-N
- AM08165AC-N
- AM06732PU-N
- AM06730PU-N
- AM05203RP-N
- AM05203FC-N
- AM05203AC-N
- AM03061RP-N
- AM03061PU-N
- AM03061FC-N
- AM03061AC-N
- Novus Biologicals Antibodies for FAS
-
Cloud-Clone Corp. Antibodies for FAS
- Invitrogen Antibodies for FAS
- antibodies-online Antibodies for FAS: See all 823
- GeneTex FAS antibody for FAS
-
Santa Cruz Biotechnology (SCBT) Antibodies for FAS
Protein Products
- EMD Millipore Purified and/or Recombinant FAS Protein
- R&D Systems Proteins and Enzymes for FAS (Fas/TNFRSF6/CD95)
- Enzo Life Sciences proteins for FAS
- Search Origene for MassSpec and Protein Over-expression Lysates for FAS
- Origene Custom Protein Services for FAS
- Sino Biological Cell Lysates for FAS
- Sino Biological Recombinant Proteins for FAS
- ProSpec Recombinant Proteins for FAS
-
Cloud-Clone Corp. Proteins for FAS
- eBioscience Recombinant Human sAPO-1/Fas 50 ug for FAS
- antibodies-online Proteins for FAS: See all 79
- Search antibodies-online for peptides
- GeneTex Proteins for FAS
Assay Products
- R&D Systems Proteome Profiler Antibody Arrays, Luminex Assays, ELISAs, and other biochemical assays for FAS (Fas/TNFRSF6/CD95)
- eBioscience Human sAPO-1/Fas Platinum ELISA 96 tests and Human sAPO-1/Fas Platinum ELISA 96 tests for FAS
- antibodies-online Kits for FAS: See all 85
No data available for DME Specific Peptides for FAS Gene
Domains & Families for FAS Gene
Gene Families for FAS Gene
Protein Domains for FAS Gene
Suggested Antigen Peptide Sequences for FAS Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P25445UniProtKB/Swiss-Prot:
TNR6_HUMAN :- Contains a death domain involved in the binding of FADD, and maybe to other cytosolic adapter proteins.
- Domain:
-
- Contains a death domain involved in the binding of FADD, and maybe to other cytosolic adapter proteins.
Function for FAS Gene
Molecular function for FAS Gene
- UniProtKB/Swiss-Prot Function:
- Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004871 | signal transducer activity | TAS | 9360929 |
| GO:0004872 | receptor activity | NAS | 7533181 |
| GO:0004888 | transmembrane signaling receptor activity | IEA | -- |
| GO:0005031 | tumor necrosis factor-activated receptor activity | IBA | -- |
| GO:0005515 | protein binding | IPI | 7536190 |
Phenotypes for FAS Gene
- MGI mutant phenotypes for FAS:
-
inferred from 11 alleles
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- normal phenotype
- growth/size/body region phenotype
- immune system phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- respiratory system phenotype
- digestive/alimentary phenotype
- neoplasm
- reproductive system phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- pigmentation phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for FAS:
-
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased viability in esophageal squamous lineage
- Decreased ionizing radiation sensitivity
- Decreased NF-kappaB reporter expression
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Weakly decreased NFAT1-GFP nuclear translocation
- Decreased viability with TRAIL
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for FAS
-
-
ViGene Biosciences lentiviral particle packaged cDNA for FAS gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FAS gene
- Search ViGene Biosciences for FAS
CRISPR Products
-
OriGene CRISPR knockouts for FAS
-
Santa Cruz Biotechnology (SCBT) CRISPR for FAS
- GenScript: Design CRISPR guide RNA sequences for FAS
miRNA for FAS Gene
- miRTarBase miRNAs that target FAS
-
- gga-mir-2131-5p (MIRT000616)
- hsa-mir-21-5p (MIRT002421)
- hsa-mir-146a-5p (MIRT005581)
- hsa-mir-106a-5p (MIRT006331)
- hsa-mir-504-5p (MIRT016252)
- hsa-mir-98-5p (MIRT027598)
- hsa-mir-196b-5p (MIRT053338)
- hsa-mir-23a-3p (MIRT053381)
- hsa-mir-19a-3p (MIRT127441)
- hsa-mir-19b-3p (MIRT127442)
- hsa-mir-92a-2-5p (MIRT438784)
- hsa-mir-92a-1-5p (MIRT438785)
- hsa-mir-18a-5p (MIRT438786)
- hsa-mir-106b-5p (MIRT438787)
- hsa-mir-17-5p (MIRT438788)
miRNA Products
- Search ViGene Biosciences for FAS
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for FAS
- Browse OriGene Inhibitory RNA Products For FAS
-
ViGene Biosciences ready-to-package AAV shRNAs for FAS gene
Clone Products
- Sino Biological Human cDNA Clone for FAS
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for FAS
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FAS
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- R&D Systems cDNA Clones for FAS (Fas/TNFRSF6/CD95)
Cell Line Products
-
Horizon Cell Lines for FAS
-
ViGene Biosciences adenoviral particle packaged cDNA for FAS gene
-
ViGene Biosciences lentiviral particle packaged cDNA for FAS gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FAS gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FAS Gene
Localization for FAS Gene
Subcellular locations from UniProtKB/Swiss-Prot for FAS Gene
- Isoform 1: Cell membrane; Single-pass type I membrane protein.
- Isoform 2: Secreted.
- Isoform 3: Secreted.
- Isoform 4: Secreted.
- Isoform 5: Secreted.
- Isoform 6: Secreted.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005739 | mitochondrion | IBA | -- |
| GO:0005829 | cytosol | NAS | 7533181 |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | IBA | -- |
Pathways & Interactions for FAS Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Dimerization of procaspase-8 | ||
| 2 | Allograft rejection | ||
| 3 | Apoptosis Modulation and Signaling |
.41
|
.33
|
| 4 | PEDF Induced Signaling |
.47
|
|
| 5 | TNFR1 Pathway |
.35
|
|
Pathways by source for FAS Gene
3 Sino Biological pathways for FAS Gene
1 GeneTex pathway for FAS Gene
2 Cell Signaling Technology pathways for FAS Gene
17 BioSystems pathways for FAS Gene
18 Reactome pathways for FAS Gene
21 KEGG pathways for FAS Gene
9 GeneGo (Thomson Reuters) pathways for FAS Gene
5 R&D Systems pathways for FAS Gene
- Apoptosis Signaling Pathways
- IL-15 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types
- IL-2 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types
- p53 Pathway
- TNF Superfamily Pathway: Human Ligand-Receptor Interactions and their Associated Functions
Interacting Proteins for FAS Gene
SIGNOR curated interactions for FAS Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001934 | positive regulation of protein phosphorylation | IMP | 11096076 |
| GO:0002377 | immunoglobulin production | IEA | -- |
| GO:0003014 | renal system process | IEA | -- |
| GO:0006461 | protein complex assembly | TAS | 10875918 |
| GO:0006915 | apoptotic process | IDA | 9681877 |
Drugs & Compounds for FAS Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(2) ApexBio Compounds for FAS Gene
| Compound | Action | Cas Number |
|---|---|---|
| Betulinic acid | Anti-HIV and antitumor compound,pentacyclic triterpenoid | 472-15-1 |
| Fas C- Terminal Tripeptide | AC-SER-LEU-VAL-OH | 189109-90-8 |
Drug Products
- ApexBio compounds for FAS
Transcripts for FAS Gene
mRNA/cDNA for FAS Gene
- (14) REFSEQ mRNAs :
- (33) Additional mRNA sequences :
- (109) Selected AceView cDNA sequences:
- (20) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FAS Gene
CRISPR Products
-
OriGene CRISPR knockouts for FAS
-
Santa Cruz Biotechnology (SCBT) CRISPR for FAS
- GenScript: Design CRISPR guide RNA sequences for FAS
miRNA Products
- Search ViGene Biosciences for FAS
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for FAS
- Browse OriGene Inhibitory RNA Products For FAS
-
ViGene Biosciences ready-to-package AAV shRNAs for FAS gene
Clone Products
- Sino Biological Human cDNA Clone for FAS
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for FAS
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FAS
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- R&D Systems cDNA Clones for FAS (Fas/TNFRSF6/CD95)
Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||
| SP6: | - | - | - | - | |||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | |||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||
| SP9: | - | - | - | - | |||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||||
| SP11: | - | - | |||||||||||||||||||||||||||||||||
| SP12: | - | - | - |
Expression for FAS Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
- Bone (Muscoskeletal System)
- Mesenchymal Stem Cells
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
-
Tooth (Integumentary System)
- Primary Enamel Knot Cells Enamel Knot
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FAS Gene
NURSA nuclear receptor signaling pathways regulating expression of FAS Gene:
FASSOURCE GeneReport for Unigene cluster for FAS Gene:
Hs.244139mRNA Expression by UniProt/SwissProt for FAS Gene:
P25445-TNR6_HUMANEvidence on tissue expression from TISSUES for FAS Gene
- Blood(4.7)
- Liver(4.6)
- Lymph node(2.8)
- Bone marrow(2.7)
- Intestine(2.5)
- Spleen(2.5)
- Lung(2.4)
- Skin(2.2)
- Nervous system(2.2)
- Eye(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FAS Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- respiratory
- skeleton
- urinary
- brain
- eye
- head
- jaw
- mandible
- maxilla
- mouth
- skull
- tooth
- lung
- kidney
- liver
- spleen
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
- blood
- blood vessel
- bone marrow
- coagulation system
- lymph node
- red blood cell
- skin
- spinal cord
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for FAS
No data available for mRNA differential expression in normal tissues for FAS Gene
Orthologs for FAS Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FAS 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | FAS 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FAS 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Fas 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fas 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | FAS 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FAS 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FAS 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fas 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fas 34 35 |
|
- Species where no ortholog for FAS 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)
- fruit fly (Drosophila melanogaster)
- 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)
- oppossum (Monodelphis domestica)
- 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)
- worm (Caenorhabditis elegans)
Paralogs for FAS Gene
(2) SIMAP similar genes for FAS Gene using alignment to 8 proteins:
No data available for Paralogs for FAS Gene
Variants for FAS Gene
| SNP ID | Clin | Chr 10 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs121913076 | Pathogenic, Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] | 89,014,163(+) | TCATG(A/C)CACTA | nc-transcript-variant, reference, missense, utr-variant-3-prime | |
| rs121913078 | Pathogenic, Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] | 89,008,915(+) | GCACC(C/T)GGACC | intron-variant, nc-transcript-variant, reference, missense | |
| rs121913079 | Pathogenic, Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] | 89,014,137(+) | TAAAT(A/G)TATCA | nc-transcript-variant, reference, missense, utr-variant-3-prime | |
| rs121913080 | Pathogenic, Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] | 89,014,191(+) | TGTTC(C/G)AAAGA | nc-transcript-variant, reference, missense, utr-variant-3-prime | |
| rs121913081 | Pathogenic, Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] | 89,014,251(+) | AGACA(C/T)AGCAG | nc-transcript-variant, reference, missense, utr-variant-3-prime |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3624139 | CNV | gain | 21293372 |
| esv3624143 | CNV | loss | 21293372 |
| esv3624144 | CNV | gain | 21293372 |
| nsv551841 | CNV | loss | 21841781 |
| nsv831943 | CNV | gain | 17160897 |
Relevant External Links for FAS Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAS Gene
Disorders for FAS Gene
(60) MalaCards diseases for FAS Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| autoimmune lymphoproliferative syndrome |
|
|
| fas-related autoimmune lymphoproliferative syndrome |
|
|
| lymphoproliferative syndrome |
|
|
| vogt-koyanagi-harada disease |
|
|
| dianzani autoimmune lymphoproliferative disease |
|
UniProtKB/Swiss-Prot
TNR6_HUMAN- Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]: A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia. {ECO:0000269 PubMed:10090885, ECO:0000269 PubMed:10340403, ECO:0000269 PubMed:10515860, ECO:0000269 PubMed:11418480, ECO:0000269 PubMed:17336828, ECO:0000269 PubMed:20935634, ECO:0000269 PubMed:7540117, ECO:0000269 PubMed:8929361, ECO:0000269 PubMed:9028321, ECO:0000269 PubMed:9028957, ECO:0000269 PubMed:9322534, ECO:0000269 PubMed:9821419, ECO:0000269 PubMed:9927496}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for FAS
No data available for Genatlas for FAS Gene
Publications for FAS Gene
- Evaluation of functional single nucleotide polymorphisms of different genes coding for the immunoregulatory molecules in patients with monoclonal large granular lymphocyte lymphocytosis. (PMID: 18361934) Garrido P. … Ruiz-Cabello F. (Hum. Immunol. 2008) 3 22 46 64
- Disparate distribution of 16 candidate single nucleotide polymorphisms among racial and ethnic groups of pediatric heart transplant patients. (PMID: 17198275) Girnita D.M. … Zeevi A. (Transplantation 2006) 3 22 46 64
- A death receptor-associated anti-apoptotic protein, BRE, inhibits mitochondrial apoptotic pathway. (PMID: 15465831) Li Q. … Chui Y.-L. (J. Biol. Chem. 2004) 3 4 22 64
- Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease. (PMID: 11436125) Prince J.A. … Brookes A.J. (Eur. J. Hum. Genet. 2001) 3 22 46 64
- The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. (PMID: 11418480) Straus S.E. … Lenardo M.J. (Blood 2001) 3 4 46 64
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Sources for FAS Gene
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