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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RASSF8 Gene

protein-coding GIFtS: 52
GCID: GC12P026111

Ras association (RalGDS/AF-6) domain family (N-terminal)...

(Previous name: chromosome 12 open reading frame 2 )
(Previous symbol: C12orf2)

Explore 4 diseases affiliated with
RASSF8 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Ras Association (RalGDS/AF-6) Domain Family (N-Terminal) Member 8¹ ²		Chromosome 12 Open Reading Frame 2¹
C12orf2¹ ² ³		HOJ1²
Carcinoma-Associated Protein HOJ-1² ³		Ras Association Domain-Containing Protein 8²
HoJ-1¹

External Ids:	HGNC: 13232¹	Entrez Gene: 11228²	Ensembl: ENSG00000123094⁷	OMIM: 608231⁵	UniProtKB: Q8NHQ8³

Export aliases for RASSF8 gene to outside databases

Previous GC identifers: GC12P026004 GC12P025896

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

Entrez Gene summary for RASSF8:

This gene encodes a member of the Ras-assocation domain family (RASSF) of tumor suppressor proteins. This gene is

essential for maintaining adherens junction function in epithelial cells and has a role in epithelial cell migration.

It is a lung tumor suppressor gene candidate. A chromosomal translocation t(12;22)(p11.2;q13.3) leading to the fusion

of this gene and the FBLN1 gene is found in a complex type of synpolydactyly. Multiple alternatively spliced

transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, May 2011)

Gene Wiki entry for RASSF8

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_009714.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RASSF8 gene promoter:
TBP RP58 AML1a Tal-1beta E47 CREB RORalpha1 deltaCREB Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RASSF8 promoter sequence

Search SABiosciences Chromatin IP Primers for RASSF8

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RASSF8

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p12.3 Ensembl cytogenetic band: 12p12.1 HGNC cytogenetic band: 12p12.3

RASSF8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RASSF8 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P026111: view genomic region (about GC identifiers)

Start:	26,111,962 bp from pter	End:	26,232,825 bp from pter
Size:	120,864 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RASF8_HUMAN, Q8NHQ8 (See protein sequence)

Recommended Name: Ras association domain-containing protein 8

Size: 419 amino acids; 48327 Da

Sequence caution: Sequence=AAC95425.1; Type=Frameshift; Positions=108;

1 PDB 3D structure from and Proteopedia for RASSF8:

2CS4 (3D)

Secondary accessions: A8K1Z0 O95647 Q5SCI2 Q76KB6

Alternative splicing: 2 isoforms: Q8NHQ8-1 Q8NHQ8-2

Explore the universe of human proteins at neXtProt for RASSF8: NX_Q8NHQ8

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8NHQ8

RASSF8 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001158218.1 NP_001158219.1 NP_001158220.1 NP_009142.2

ENSEMBL proteins:

ENSP00000370756 ENSP00000442036 ENSP00000384491 ENSP00000439839 ENSP00000442485

ENSP00000441294 ENSP00000445434 ENSP00000445970 ENSP00000282884 ENSP00000443696

ENSP00000442191 ENSP00000443096

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

RASSF8 for domains About GeneDecksing

1 InterPro domain/family:

IPR000159 Ras-assoc

Graphical View of Domain Structure for InterPro Entry Q8NHQ8

ProtoNet protein and cluster: Q8NHQ8

UniProtKB/Swiss-Prot: RASF8_HUMAN, Q8NHQ8

Similarity: Contains 1 Ras-associating domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

miRNA Products:		OriGene 3'-UTR Clone (see all 4): RASSF8 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RASSF8
		8/150 QIAGEN miScript miRNA Assays for microRNAs that regulate RASSF8 (see all 150):
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RASSF8

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for RASSF8

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

5/30 Interacting proteins for RASSF8 (Q8NHQ8^{2, 3} ENSP00000282884⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 30)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PSMD4	P55036²^,³, ENSP00000357879⁴	MINT-67927 I2D: score=5 STRING: ENSP00000357879
FRMD6	Q96NE9²^,³, ENSP00000348550⁴	MINT-66192 I2D: score=4 STRING: ENSP00000348550
YWHAG	P61981²^,³, ENSP00000306330⁴	MINT-50871 I2D: score=4 STRING: ENSP00000306330
PARD3	Q8TEW0³, ENSP00000363921⁴	I2D: score=2 STRING: ENSP00000363921
YWHAH	Q04917³, ENSP00000248975⁴	I2D: score=2 STRING: ENSP00000248975

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007165	signal transduction	IEA	--

RASSF8 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RASSF8
Search CenterWatch for drugs/clinical trials and news about RASSF8 / RASF8

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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About This Section

REFSEQ mRNAs for RASSF8 gene (4 alternative transcripts):

NM_001164746.1 NM_001164747.1 NM_001164748.1 NM_007211.4

Unigene Cluster for RASSF8:

Ras association (RalGDS/AF-6) domain family (N-terminal) member 8

Hs.696433 [show with all ESTs]

Unigene Representative Sequence: NM_001164746

14 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000381352(uc001rgw.2 uc001rgz.3) ENST00000538081 ENST00000535907

ENST00000405154 ENST00000542865 ENST00000542004 ENST00000538365 ENST00000542315

ENST00000537946 ENST00000541218 ENST00000282884 ENST00000545413 ENST00000539545

ENST00000541490(uc001rgx.3 uc001rgy.3 uc009zjd.2 uc009zje.2)

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		hsa-miR-3921 hsa-miR-149 hsa-miR-200b hsa-miR-4273 hsa-miR-30b* hsa-miR-374b* hsa-miR-186* hsa-miR-130a*

		SwitchGear 3'UTR luciferase reporter plasmid: RASSF8 3' UTR sequence

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Additional cDNA sequence:

AB093206.1 AK021604.1 AK290055.1 AK292333.1 AL122049.1 AY665468.1 AY665469.1 AY665470.1

AY665471.1 BC030021.1 BC040580.1 CR456905.1 U82396.1

12 DOTS entries:

DT.95159289 DT.92042430 DT.75100849 DT.100645444 DT.97771297 DT.91729268 DT.100755240 DT.97767580

DT.204419 DT.411927 DT.92030229 DT.95177404

24/151 AceView cDNA sequences (see all 151):

AA917994 BI826442 AU118062 AA902704 AW274884 AI656321 AI280007 AL598061

AA952905 CF528690 BQ023827 AW082291 AI611262 AU118999 BX111606 AI219256

BI828806 BE440096 BE179634 BP369416 BP371608 BX473020 BU147358 BF245627

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for RASSF8 (see all 11) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3	^	4	^	5	^	6a	·	6b	·	6c	^	7a	·	7b	·	7c	^	8a	·	8b	·	8c	·	8d	·	8e	·	8f	·	8g	·	8h	·	8i	^	9	^	10
SP1:									-		-		-		-		-		-		-
SP2:									-		-		-		-		-		-		-		-
SP3:													-		-		-		-		-		-
SP4:									-				-		-		-		-		-
SP5:									-				-		-		-		-		-		-

ECgene alternative splicing isoforms for RASSF8

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RASSF8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTCACTAATT

About this image

RASSF8 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See RASSF8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RASSF8

SOURCE GeneReport for Unigene cluster: Hs.696433

UniProtKB/Swiss-Prot: RASF8_HUMAN, Q8NHQ8

Tissue specificity: Widely expressed as a 6.2 kb transcript. A 2.2 kb alternatively spliced transcript is expressed

exclusively in testis

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for RASSF8 gene from 6/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Rassf8^{1 , 5}	Ras association (RalGDS/AF-6) domain family (N-terminal) more^{1, 5}	82.98(n)¹ 91.65(a)¹		6 (77.68 cM)⁵ 71323¹ NM_027760.2¹ NP_082036.1¹ 145746748⁵
chicken (Gallus gallus)	Aves	RASSF8¹	Ras association (RalGDS/AF-6) domain family (N-terminal) more	76.21(n) 90.45(a)		418210 XM_416437.3 XP_416437.2
lizard (Anolis carolinensis)	Reptilia	RASSF8⁶	--	88(a)	1 ↔ 1	GL343349.1(1099028-1118225)
zebrafish (Danio rerio)	Actinopterygii	zgc64017²	hypothetical protein MGC64017	73(n)		393334 BC053201.1
fruit fly (Drosophila melanogaster)	Insecta	RASSF8¹	CG5053-PA	47.59(n) 36.98(a)		43096 NM_143154.3 NP_651411.1
worm (Caenorhabditis elegans)	Secernentea	K05B2.2⁶	Protein K05B2.2, isoform b	19(a)	1 → many	X(4907260-4912293)

ENSEMBL Gene Tree for RASSF8 (if available)
TreeFam Gene Tree for RASSF8 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for RASSF8 gene

RASSF7²

2 SIMAP similar genes for RASSF8 using alignment to 8 protein entries: RASF8_HUMAN (see all proteins):

C12orf2 RASSF7

RASSF8 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs11610628^1,2	C,H,	--	25884684(+)	`TCAAAG/ATGTAG`	2	--	int¹		4	NA WA	242
rs74955639^1,2	C,F,	--	25884790(+)	`AGTGAG/CCTCGG`	2	--	int¹		3	NA	124
rs61914184^1,2	C,	--	25884872(+)	`GCTATG/AGTGAG`	2	--	int¹		4	WA NA	242
rs80116010^1,2	F,	--	25885554(+)	`CCACCC/ATTATC`	2	--	int¹		1	WA	118
rs76205246^1,2		--	25885659(+)	`TAGGGT/ACCTTT`	2	--	int¹		3	CSA WA NA	239
rs866687^1,2	H	--	25886348(-)	`CCTTAG/AAACTC`	2	--	int¹		4	NS EA	412
rs6487520^1,2	C,F,A,H,	--	25886856(+)	`CTCCTC/GTGCAG`	2	--	int¹		3	NS WA NA	356
rs706523^1,2	C,	--	25887431(-)	`AATGGG/ATAATA`	2	--	int¹		3	NA WA	122
rs74072269^1,2	C,F,	--	25887747(+)	`GCTCGT/GGAGTG`	2	--	int¹		4	WA CSA	123
rs61914186^1,2	C,F,	--	25887832(+)	`AGTATA/GTATGT`	2	--	int¹		4	WA NA EA	244

HapMap Linkage Disequilibrium report for RASSF8 (26111962 - 26232825 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for RASSF8
4 CNVs: 49037 49038 3881 71477
1 Indel: 71478

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RASSF8

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

RASSF8 for disorders About GeneDecksing

OMIM gene information: 608231 OMIM disorders: --

UniProtKB/Swiss-Prot: RASF8_HUMAN, Q8NHQ8

Note=A chromosomal aberration involving RASSF8 is found in a complex type of synpolydactyly referred to as

3/3-prime/4 synpolydactyly associated with metacarpal and metatarsal synostoses. Reciprocal translocation

t(12;22)(p11.2;q13.3) with FBLN1

4 diseases for RASSF8: About MalaCards

synpolydactyly carcinoma lung adenocarcinoma adenocarcinoma

Human Genome Epidemiology (HuGE) Navigator: RASSF8 (2 documents)

Export disorders for RASSF8 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for RASSF8 gene, integrated from 9 sources (see all 20):
(articles sorted by number of sources associating them with RASSF8)

Utopia: connect your pdf to the dynamic
world of online information

The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly. (PubMed id 11836357)^{1, 2, 9} Debeer P.... Van De Ven W.J.M. (2002)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Physical map of a 1.5 mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint. (PubMed id 10951517)^{1, 2} Debeer P.... Van de Ven W.J.M. (2000)
Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)¹ Lin Y.Y....Boeke J.D. (2012)
Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
The RASSF8 candidate tumor suppressor inhibits cell g rowth and regulates the Wnt and NF-kappaB signaling pathways. (PubMed id 20514026)¹ Lock F.E....Latif F. (2010)
A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)² Dephoure N.... Gygi S.P. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 11228	HGNC: 13232	AceView: C12orf2	Ensembl:ENSG00000123094	euGenes: HUgn11228
ECgene: RASSF8	H-InvDB: RASSF8

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for RASSF8	Pharmacogenomics, SNPs, Pathways

Intellectual Property for RASSF8 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for RASSF8 gene:
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GeneCards and IP:
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