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FAS Gene

protein-coding GIFtS: 71

GC10P090741

Fas (TNF receptor superfamily, member 6)
(Previous names: tumor necrosis factor receptor superfamily, member 6 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: FAS1, APT1, TNFRSF6)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
ALPS1A ^²
APO-1 ^¹, ²
APT1 ^², ³
CD95 ^¹, ²
FAIM2 ^⁵
FAS1 ^², ³
FASTM ^²
LFG ^⁵
NMP35 ^⁵
OTTHUMP00000020045 ^²
OTTHUMP00000020046 ^²
OTTHUMP00000020051 ^²
OTTHUMP00000059646 ^²
TNFRSF6 ^², ³

Descriptions
APO-1 cell surface antigen ^²
Apo-1 antigen ^³
Apoptosis-mediating surface antigen FAS ^³
CD95 antigen ^², ³
FASLG receptor ^³
Fas (TNF receptor superfamily, member 6) ^²
Fas AMA ^²
Fas antigen ^²
apoptosis antigen 1 ^²
tumor necrosis factor receptor superfamily member 6 ^²
tumor necrosis factor receptor superfamily, member 6 ^¹, ²

External Ids
HGNC: 11920¹
Entrez Gene: 355²
UniProtKB: P25445³
Ensembl: ENSG00000026103⁷

Search outside databases for aliases for FAS gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for FAS:

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. At least eight alternatively

spliced transcript variants encoding seven distinct isoforms have been described. The isoforms

lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length

isoform. [provided by RefSeq]

UniProtKB/Swiss-Prot: TNR6_HUMAN, P25445

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)

Gene Wiki entry for FAS (Fas_receptor)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the FAS gene

Entrez Gene cytogenetic band: 10q24.1 Ensembl cytogenetic band: 10q23.31 HGNC cytogenetic band: 10q24.1

FAS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10P090741: (about GC identifiers)

Start:	90,739,206 bp from pter
End:	90,765,522 bp from pter
Size:	26,317 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000010.9 NT_030059.12

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: TNR6_HUMAN, P25445 (See protein sequence)

Recommended Name: Tumor necrosis factor receptor superfamily member 6 precursor

Size: 335 amino acids; 37732 Da

Subunit: Binds DAXX. Interacts with HIPK3. Part of a complex containing HIPK3 and FADD (By

similarity). Binds RIPK1 and FAIM2. Interacts with BRE and FEM1B

Subcellular location: Isoform 1: Cell membrane; Single-pass type I membrane protein

Subcellular location: Isoform 2: Secreted

Subcellular location: Isoform 3: Secreted

Subcellular location: Isoform 4: Secreted

Subcellular location: Isoform 5: Secreted

Subcellular location: Isoform 6: Secreted

PDB structures from and Proteopedia :

1BZI (3D)

1DDF (3D)

3EZQ (3D)

Secondary accessions: Q14292 Q14293 Q14294 Q14295 Q16652 Q5T9P2 Q6SSE9

Alternative splicing: 6 isoforms: P25445-1 P25445-2 P25445-3 P25445-4 P25445-5 P25445-6

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (8 alternative transcripts):

NP_000034.1 NP_690610.1 NP_690611.1 NP_690612.1 NP_690613.1 NP_690614.1 NP_690615.1 NP_690616.1

ENSEMBL proteins:

ENSP00000349896 ENSP00000360926 ENSP00000360942 ENSP00000360923 ENSP00000318464 ENSP00000318609

ENSP00000343487 ENSP00000345601 ENSP00000347426 ENSP00000347979

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Millipore Purified and/or Recombinant FAS Protein
	Sigma-Aldrich Proteins for FAS
	R&D Systems Recombinant & Natural Proteins for FAS (Fas/TNFRSF6/CD95)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (CD95 )
	Human Recombinant Proteins from Abnova (FAS)

OriGene Purified Recombinant Human Protein: FAS

5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005625	soluble fraction	TAS	7510905
GO:0005829	cytosol	NAS	7533181
GO:0005886	plasma membrane	IEA	--
GO:0009897	external side of plasma membrane	IEA	--

About this table

Antibodies for FAS:

	Invitrogen Antibodies for FAS
	Millipore Mono- and Polyclonal Antibodies for the study of FAS
	Sigma-Aldrich Antibody Arrays and Antibodies for FAS
	R&D Systems Antibodies for FAS (Fas/TNFRSF6/CD95)
	Cell Signaling Technology (CST) Antibodies for FAS
	Antibodies from Abcam (CD95 ), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Novus Biologicals Antibodies for FAS

Assays for FAS:

	Invitrogen Assays for FAS
	Millipore Kits and Assays for the Analysis of FAS
	R&D Systems ELISAs for FAS (Fas/TNFRSF6/CD95) (see all)
	Enzo Life Sciences assays for FAS

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P25445

ProtoNet protein and cluster: P25445

3 Blocks protein families:

IPB000488 Death domain

IPB001368 TNFR/CD27/30/40/95 cysteine-rich region

IPB008063 FAS/CD95 receptor family signature

UniProtKB/Swiss-Prot: TNR6_HUMAN, P25445

Domain: Contains a death domain involved in the binding of FADD, and maybe to other cytosolic

adapter proteins

Similarity: Contains 1 death domain

Similarity: Contains 3 TNFR-Cys repeats

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (FAS)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (FAS)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 8): NM_000043

Applied Biosystems Silencer® siRNAs for FAS

Sigma-Aldrich siRNA and siRNA Panels for FAS

Sigma-Aldrich shRNA Panels and shRNA for FAS

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for FAS
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 8): NM_000043
Myc/DDK tagged cDNA clones in CMV expression vector (see all 8): NM_000043
untagged cDNA clones in CMV expression vector (see all 8): NM_000043

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000043

UniProtKB/Swiss-Prot: TNR6_HUMAN, P25445

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)

15/26 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Fas) (see all 26 ):

	behavior/neurological	cellular	craniofacial	digestive/alimentary
endocrine/exocrine gland	growth/size	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism
immune system	lethality-prenatal/perinatal	life span-post-weaning/aging	limbs/digits/tail	liver/biliary system

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004888	transmembrane receptor activity	IEA	--
GO:0042802	identical protein binding	IPI	7536190

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

5/12 Sigma-Aldrich "Your Favorite Gene" Pathways for FAS (Your Favorite Gene powered by Ingenuity) (see all 12 )

Apoptosis Signaling
CCR5 Signaling in Macrophages
Death Receptor Signaling
Induction of Apoptosis by HIV1
Type I Diabetes Mellitus Signaling

GeneDecks FAS for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for FAS

5/153 Interacting proteins for FAS (P25445^{1, 2} ENSP00000360942³) via UniProtKB, MINT, and/or STRING (see all 153 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PTPN13	Q12923¹, ENSP00000349909³	EBI-494743, EBI-355227 STRING (score=.997)
DAXX	Q9UER7¹, ENSP00000363668³	EBI-494743, EBI-77321 STRING (score=.987)
MAP3K5	Q99683¹, ENSP00000351908³	EBI-494743, EBI-476263 STRING (score=.982)
FYN	P06241², ENSP00000357656³	MINT-4085360 STRING (score=.937)
SRC	P12931¹, ENSP00000362659³	EBI-494743, EBI-621482 STRING (score=.785)

About this table

5/22 Gene Ontology (GO) biological process terms (links to tree view) (see all 22 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002377	immunoglobulin production	IEA	--
GO:0003014	renal system process	IEA	--
GO:0006461	protein complex assembly	TAS	10875918
GO:0006916	anti-apoptosis	TAS	7510905
GO:0006924	activation-induced cell death of T cells	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for FAS
10/44 Novoseek chemical compound relationships for FAS gene (see all 44 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
dutp	68.12	14	9212738 (1), 10383736 (1), 12210368 (1), 12957613 (1) (see all 12)
ceramide	63.07	85	10745271 (3), 11973615 (3), 18613813 (2), 11502750 (2) (see all 50)
safrole oxide	63.04	7	16225864 (2), 16702019 (2), 16326105 (1), 16473419 (1)
fatty acid	56.52	261	8631008 (8), 18056164 (6), 14767544 (5), 15607568 (5) (see all 99)
7-aminoactinomycin d	51.51	4	11030869 (1), 11380462 (1), 18419713 (1)
annexin-v	51.29	1	12480581 (1)
ionomycin	44.35	15	9823934 (6), 12684639 (2), 10381655 (1), 9324019 (1) (see all 7)
3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide	37.82	3	18471799 (1), 10389864 (1), 12670900 (1)
sp 600125	34.12	2	16061660 (1), 16162944 (1)
oridonin	33.30	1	16946501 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (FAS)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (FAS)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 8): NM_000043

Sigma-Aldrich siRNA and siRNA Panels for FAS

Sigma-Aldrich shRNA Panels and shRNA for FAS

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000043 NM_152871 NM_152872 NM_152873 NM_152874 NM_152875 NM_152876 NM_152877

REFSEQ mRNAs for FAS gene (8 alternative transcripts):

NM_000043.3 NM_152871.1 NM_152872.1 NM_152873.1 NM_152874.1 NM_152875.1 NM_152876.1 NM_152877.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000043 NM_152871 NM_152872 NM_152873 NM_152874 NM_152875 NM_152876 NM_152877

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 8): NM_000043
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 8): NM_000043
                                 untagged cDNA clones in CMV expression vector (see all 8): NM_000043

Additional cDNA sequence:

AB209361.1 AK290978.1 AK311164.1 AK311424.1 AK311499.1 AY495076.1 BC012479.1 CR450307.1

CR625848.1 FM246457.1 FM246458.1 FM246459.1 M67454.1 X63717.1 X83490.1 X83491.1

X83492.1 X83493.1 X89101.1 Z47993.1 Z47994.1 Z47995.1 Z66556.1 Z70519.1

Z70520.1

20 DOTS entries:

DT.455842 DT.100031255 DT.100031258 DT.86821059 DT.95269153 DT.100689381 DT.100728449 DT.100689391

DT.113385 DT.113386 DT.121212588 DT.100031256 DT.100779824 DT.121212598 DT.121212505 DT.95269151

DT.95308040 DT.121212594 DT.121212597 DT.95229610

24/109 AceView cDNA sequences (see all 109 ):

NM_152877 BQ051037 NM_152873 NM_152876 AA293571 CB266238 NM_000043 CB135078

W51756 BE856244 M67454 BM790665 NM_152872 CR625848 BE501338 BC012479

NM_152874 AL542093 AA521286 BM976104 X83493 AA550824 X89101 X83492

highest scoring ESTs for FAS:

X63717 Z70519 AA031300 AA033642 AA128320 AA164751 AA180032 AA293570 AA293571 AA406323

Unigene Cluster for FAS:

Fas (TNF receptor superfamily, member 6)

Hs.244139 [show with all ESTs]

Unigene Representative Sequence: AB209361

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for FAS (see all 12 )

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	^	3a	·	3b	·	3c	^	4	^	5	^	6a	·	6b	^	7a	·	7b	^	8	^	9a	·	9b
SP1:									-		-		-		-		-												-
SP2:									-		-		-		-		-												-		-
SP3:																							-		-				-
SP4:									-		-		-		-		-						-		-				-
SP5:									-		-		-		-		-				-		-		-				-

About this scheme

ECgene alternative splicing isoforms for FAS

10 Ensembl transcripts including schematic representations:

ENST00000357339 ENST00000371860 ENST00000371875 ENST00000371857 ENST00000313771 ENST00000350062

ENST00000341057 ENST00000352159 ENST00000355279 ENST00000355740

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

FAS expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for FAS

¹ / ² / ³

14 probe-sets matching FAS gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
37643_at²^{, 3}	U95-A	1	1.00	1.00	0.96	1.27	X63717	1.00	1.00	1.00	1
37644_s_at²^{, 3}	U95-A	1	1.00	1.00	0.92	0.75	Z70519	1.00	1.00	1.00	1
1808_s_at²^{, 3}	U95-A	1	1.00	1.00	0.28	0.40	X89101	0.60	1.00	0.82	1
1441_s_at²^{, 3}	U95-A	1	1.00	1.00	0.96	0.79	X83492	0.80	1.00	0.91	1
1440_s_at²^{, 3}	U95-A	1	1.00	1.00	0.88	1.27	X83490	0.80	1.00	0.91	1
389_s_at²^{, 3}	U95-A	1	1.00	1.00	0.36	0.22	X82279	0.20	1.00	0.72	1
216252_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	Z70519	1.00	1.00	1.00	1
215719_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	X83493	0.60	1.00	0.82	1
204780_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AA164751	0.80	1.00	0.91	1
204781_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000043	0.60	1.00	0.82	1
216252_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
215719_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
204780_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
204781_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TAAAACCTGC

SOURCE GeneReport for Unigene cluster: Hs.244139
UniProtKB/Swiss-Prot: TNR6_HUMAN, P25445
Tissue specificity: Isoform 1 and isoform 6 are expressed at equal levels in resting peripheral
blood mononuclear cells. After activation there is an increase in isoform 1 and decrease in the
levels of isoform 6

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for FAS gene from 5/7 species (see all 7 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	FAS¹	--	Fas (TNF receptor superfamily, member 6)	65.5(n) 57.34(a)	486469 XM_543595.2 XP_543595.2
chimpanzee (Pan troglodytes)	FAS¹	--	Fas (TNF receptor superfamily, member 6)	99.18(n) 98.46(a)	738331 XM_001139138.1 XP_001139138.1
cow (Bos taurus)	FAS¹	--	Fas (TNF receptor superfamily, member 6)	71.22(n) 58.7(a)	282488 NM_174662.2 NP_777087.1
rat (Rattus norvegicus)	Fas¹	--	Fas (TNF receptor superfamily, member 6)	63.98(n) 51.24(a)	246097 NM_139194.2 NP_631933.2
mouse (Mus musculus)	Fas^{1, 5}	19 (23.00 cM)⁵	Fas (TNF receptor superfamily member 6)^{1, 5}	65.85(n)¹ 50.61(a)¹	14102¹ NM_007987.1¹ NP_032013.1¹ AI196731⁵ AJ295702⁵ (see all 24)

About this table Species with no ortholog for FAS

ENSEMBL Gene Tree for FAS

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for FAS gene

TNFRSF10B² TNFRSF10C² TNFRSF10A² TNFRSF10D²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/302 NCBI SNPs in FAS are shown (see all 302 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 200)

AB	SNP ID	Valid	Chr 10 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs1800682^1,2	A,C,F,H,O	90739943(-)	`ACGTTC/TCTGGA`	8	--	ng5¹		24	EA NS NA MN EU WA CSAM	2408
	rs2234978^1,2	A,C,F,H,O	90761809(+)	`CCAACC/TTTAAA`	8	T/T	syn¹ ut3¹ int¹		20	NA EU EA WA NS	2078
--	rs2862833^1,2	A,C,F,H	90765609(-)	`AGCATT/CAAAGA`	8	--	ng3¹		11	EU EA WA NS	1248
	rs1468063^1,2	A,C,F,H	90765271(-)	`ACTTGG/AGGGTA`	8	--	ut3¹		25	EA MN EU WA NS NA CSAM	2348
	rs1051070^1,2	C,F,H,O	90764752(+)	`CAAAGA/TCCTTT`	8	--	ut3¹ ese³		18	NS MN NA EU EA WA	1436
	rs3218611^1,2	C,F,H	90764093(+)	`TTGTAC/TTCTTG`	8	T/I	mis¹ ut3¹		7	NA NS EU EA WA	848
	rs11597033^1,2	C,F,H	90765820(+)	`CAAATG/AAGGAT`	8	--	ng3¹		4	EU EA WA	420
	rs3218619^1,2	C,F,H	90752781(+)	`CTGTTG/ACTAGA`	8	T/A	mis¹ ese³		30	NA NS MN CSAM EA EU WA	2966
	rs9658782^1,2	C,F,H	90765716(+)	`CCAAAC/TAGCAC`	8	--	ng3¹		11	NS EU EA WA	1252
	rs9325604^1,2	C,F,H	90765736(+)	`CGTCAA/GACAGT`	8	--	ng3¹		13	NS NA EU EA WA	842

About this table

HapMap Linkage Disequilibrium images for FAS (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 604306

UniProtKB/Swiss-Prot: TNR6_HUMAN, P25445

Defects in FAS are the cause of autoimmune lymphoproliferative syndrome type 1A (ALPS1A)

[MIM:601859]; also known as Canale-Smith syndrome (CSS). ALPS is a childhood syndrome involving

hemolytic anemia and thrombocytopenia with massive lymphadenopathy and splenomegaly

10/94 Novoseek disease relationships for FAS gene (see all 94 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
autoimmune lymphoproliferative syndrome	91.08	101	15640690 (3), 10340403 (2), 17605793 (2), 9028321 (2) (see all 64)
necrosis	80.48	853	15940614 (6), 10887332 (5), 11782299 (3), 15195900 (3) (see all 99)
tumors	76.60	1720	12222835 (8), 11150435 (7), 11692157 (6), 12480581 (6) (see all 99)
dianzani autoimmune lymphoproliferative disease	69.44	1	16537120 (1)
autoimmune diseases	63.49	81	9826578 (2), 10548879 (2), 9862736 (2), 11791468 (2) (see all 57)
autoimmunity	60.69	60	11318598 (2), 12930371 (2), 11256883 (2), 8929361 (2) (see all 38)
tumor escape	59.99	6	10383736 (1), 15968727 (1), 10415870 (1), 11523216 (1) (see all 5)
cancer	56.70	307	15577743 (6), 12498219 (3), 11323104 (3), 11832097 (3) (see all 99)
hashimotos thyroiditis	54.38	42	14585083 (3), 12480911 (3), 10917176 (3), 9396343 (2) (see all 24)
toxic epidermal necrolysis	53.71	13	10951228 (2), 11103436 (2), 12655300 (1), 17460400 (1) (see all 11)

About this table

GeneTests: FAS

Autoimmune Lymphoproliferative Syndrome

Human Gene Mutation Database: FAS
Genetic Association Database: FAS
Human Genome Epidemiology Navigator: FAS (144 documents)

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/3020 PubMed articles for FAS gene (see all 3020 ):

Somatic Fas mutations in non-Hodgkin's lymphoma: association with extranodal disease and autoimmunity. (PubMed id 9787134)^{1, 3, 4, 6} Groenbaek K.... Guldberg P. (1998)
Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. (PubMed id 10090885)^{1, 3, 4} Jackson C.E.... Puck J.M. (1999)
Genetic polymorphisms of Fas (CD95) and Fas ligand (CD178) influence the rise in CD4+ T cell count after antiretroviral therapy in drug-naive HIV-positive patients. (PubMed id 16158329)^{1, 3, 6} Nasi M....Cossarizza A. (2005)
Somatic mutations of Fas (Apo-1/CD95) gene in cutaneous squamous cell carcinoma arising from a burn scar. (PubMed id 10620127)^{1, 3, 4} Lee S.H.... Yoo N.J. (2000)
Functional polymorphisms in cell death pathway genes FAS and FASL contribute to risk of lung cancer. (PubMed id 15937082)^{1, 3, 6} Zhang X....Lin D. (2005)
The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. (PubMed id 11418480)^{1, 3, 4} Straus S.E.... Lenardo M.J. (2001)
Fas gene promoter polymorphisms in primary Sjogren's syndrome. (PubMed id 14672901)^{1, 3, 6} Mullighan C.G....Bardy P.G. (2004)
Fas and Fas ligand gene polymorphisms in primary Sjogren's syndrome. (PubMed id 11036836)^{1, 3, 6} Bolstad A.I....Jonsson R. (2000)
Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. (PubMed id 9028321)^{1, 3, 4} Bettinardi A.... Notarangelo L.D. (1997)
Fas polymorphisms influence susceptibility to autoimmune hepatitis. (PubMed id 15929764)^{1, 3, 6} Hiraide A....Saisho H. (2005)

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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 355	HGNC: 11920	AceView: TNFRSF6	Ensembl:ENSG00000026103	euGenes: HUgn355
ECgene: FAS	H-InvDB: FAS

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for FAS	Genetics and Cytogenetics in Oncology and Haematology
Autoimmune Lymphoproliferative Syndrome Database (ALPSbase)	http://research.nhgri.nih.gov/ALPS/alpsIa_mut.shtml
GeneReviews	http://www.genetests.org/query?gene=FAS
NIEHS-SNPs	http://egp.gs.washington.edu/data/tnfrsf6/

Licensable Technologies for FAS
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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
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Enzo Life Sciences, and/or Tocris Bioscience)
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Products for FAS:

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FAS Gene

protein-coding GIFtS: 71

Aliases &
Descriptions
for FAS

Summaries
for FAS

Genomic Location
for FAS

Proteins
for FAS

Protein Domains/
Families
for FAS

Gene Function
for FAS

Pathways & Interactions
for FAS

Drugs & Compounds
for FAS

Transcripts
for FAS

Expression
for FAS

Orthologs
for FAS

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for FAS

SNPs/Variants
for FAS

Disorders & Mutations
for FAS

Medical News
for FAS

Publications
for FAS

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

FAS (Gene Symbol)
ALPS1A
APO-1
APT1
CD95
FAIM2
FAS1
FASTM
LFG
NMP35
OTTHUMP00000020045
OTTHUMP00000020046
OTTHUMP00000020051
OTTHUMP00000059646
TNFRSF6
APO-1 cell surface antigen
Apo-1 antigen
Apoptosis-mediating surface antigen FAS
CD95 antigen
FASLG receptor
Fas (TNF receptor superfamily, member 6)
Fas AMA
Fas antigen
apoptosis antigen 1
tumor necrosis factor receptor superfamily member 6
tumor necrosis factor receptor superfamily, member 6

FAS Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor FAS

Summariesfor FAS

Genomic Locationfor FAS

Proteinsfor FAS

Protein Domains/Familiesfor FAS

Gene Functionfor FAS

Pathways & Interactionsfor FAS

Drugs & Compoundsfor FAS

Transcriptsfor FAS

Expression for FAS

Orthologsfor FAS

Paralogsfor FAS

SNPs/Variantsfor FAS

Disorders & Mutationsfor FAS

Medical Newsfor FAS

Publicationsfor FAS

Search for FAS

Genome Databases showing FAS

Other Databases showing FAS

Specialized Databases showing FAS

Licensable Technologiesfor FAS

Servicesfor FAS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for FAS

Summaries
for FAS

Genomic Location
for FAS

Proteins
for FAS

Protein Domains/
Families
for FAS

Gene Function
for FAS

Pathways & Interactions
for FAS

Drugs & Compounds
for FAS

Transcripts
for FAS

Expression
for FAS

Orthologs
for FAS

Paralogs
for FAS

SNPs/Variants
for FAS

Disorders & Mutations
for FAS

Medical News
for FAS

Publications
for FAS

Licensable Technologies
for FAS

Services
for FAS