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Aliases for RASSF8 Gene

Aliases for RASSF8 Gene

  • Ras Association Domain Family Member 8 2 3 5
  • Ras Association (RalGDS/AF-6) Domain Family (N-Terminal) Member 8 2 3
  • Carcinoma-Associated Protein HOJ-1 3 4
  • C12orf2 3 4
  • Ras Association Domain-Containing Protein 8 3
  • Chromosome 12 Open Reading Frame 2 2
  • HOJ1 3

External Ids for RASSF8 Gene

Previous HGNC Symbols for RASSF8 Gene

  • C12orf2

Previous GeneCards Identifiers for RASSF8 Gene

  • GC12P026004
  • GC12P026111
  • GC12P025896

Summaries for RASSF8 Gene

Entrez Gene Summary for RASSF8 Gene

  • 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]

GeneCards Summary for RASSF8 Gene

RASSF8 (Ras Association Domain Family Member 8) is a Protein Coding gene. Diseases associated with RASSF8 include Synpolydactyly. An important paralog of this gene is RASSF7.

Gene Wiki entry for RASSF8 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RASSF8 Gene

Genomics for RASSF8 Gene

Regulatory Elements for RASSF8 Gene

Enhancers for RASSF8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G025992 1.4 Ensembl ENCODE dbSUPER 16.6 +37.0 36991 7.6 ZSCAN4 INSM2 KLF17 BMI1 ZEB1 RFX5 GLIS2 ZNF366 SCRT2 RCOR1 RASSF8-AS1 RASSF8 ENSG00000241846 RNU4-67P GC12P026008
GH12G026009 1.4 Ensembl ENCODE dbSUPER 16.3 +51.7 51680 2.4 PKNOX1 KLF17 FEZF1 BMI1 ZNF366 SCRT2 FOS ZNF391 RELB IKZF2 RASSF8 RASSF8-AS1 GC12P026008 GC12P026077
GH12G025828 1.1 Ensembl ENCODE 20.4 -129.4 -129371 3.2 TBP PKNOX1 FEZF1 RAD21 BRCA1 RFX5 GATA2 SCRT2 RCOR1 FOS RASSF8 RASSF8-AS1 ENSG00000256440 ENSG00000256686
GH12G026031 1.1 ENCODE dbSUPER 15.7 +74.6 74599 3.3 PKNOX1 INSM2 FEZF1 RAD21 ZNF366 ZNF362 ZEB2 ZNF843 PRDM6 GLIS1 RASSF8 RASSF8-AS1 BHLHE41 GC12P026008 GC12P026077
GH12G025691 1.3 Ensembl ENCODE 10.4 -265.8 -265846 3.0 PKNOX1 CREB3L1 FEZF1 ZNF2 ZNF766 FOS ZNF263 REST MEF2D ZNF610 RASSF8 RASSF8-AS1 PIR52916 PIR53697
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RASSF8 on UCSC Golden Path with GeneCards custom track

Promoters for RASSF8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000049933 71 2601 PKNOX1 ATF1 SIN3A ZNF48 GLIS2 GATA2 ZNF143 FOS SP3 TSHZ1

Genomic Location for RASSF8 Gene

Chromosome:
12
Start:
25,959,029 bp from pter
End:
26,079,892 bp from pter
Size:
120,864 bases
Orientation:
Plus strand

Genomic View for RASSF8 Gene

Genes around RASSF8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RASSF8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RASSF8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RASSF8 Gene

Proteins for RASSF8 Gene

  • Protein details for RASSF8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NHQ8-RASF8_HUMAN
    Recommended name:
    Ras association domain-containing protein 8
    Protein Accession:
    Q8NHQ8
    Secondary Accessions:
    • A8K1Z0
    • O95647
    • Q5SCI2
    • Q76KB6

    Protein attributes for RASSF8 Gene

    Size:
    419 amino acids
    Molecular mass:
    48327 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC95425.1; Type=Frameshift; Positions=108; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RASSF8 Gene

    Alternative splice isoforms for RASSF8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RASSF8 Gene

Post-translational modifications for RASSF8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RASSF8 Gene

Domains & Families for RASSF8 Gene

Gene Families for RASSF8 Gene

Protein Domains for RASSF8 Gene

Suggested Antigen Peptide Sequences for RASSF8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RASSF8: view

No data available for UniProtKB/Swiss-Prot for RASSF8 Gene

Function for RASSF8 Gene

genes like me logo Genes that share phenotypes with RASSF8: view

Animal Models for RASSF8 Gene

MGI Knock Outs for RASSF8:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RASSF8 Gene

Localization for RASSF8 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RASSF8 gene
Compartment Confidence
cytosol 4
mitochondrion 2
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for RASSF8 Gene

Pathways & Interactions for RASSF8 Gene

SuperPathways for RASSF8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RASSF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0034334 adherens junction maintenance IEA --
genes like me logo Genes that share ontologies with RASSF8: view

No data available for Pathways by source and SIGNOR curated interactions for RASSF8 Gene

Drugs & Compounds for RASSF8 Gene

No Compound Related Data Available

Transcripts for RASSF8 Gene

Unigene Clusters for RASSF8 Gene

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

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RASSF8 Gene

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: - - - - - - -
SP6: - - - -
SP7: - - -
SP8: -
SP9: - -
SP10:
SP11: -

Relevant External Links for RASSF8 Gene

GeneLoc Exon Structure for
RASSF8
ECgene alternative splicing isoforms for
RASSF8

Expression for RASSF8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RASSF8 Gene

Protein differential expression in normal tissues from HIPED for RASSF8 Gene

This gene is overexpressed in Adrenal (32.2), Plasma (19.7), and Fetal ovary (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RASSF8 Gene



Protein tissue co-expression partners for RASSF8 Gene

NURSA nuclear receptor signaling pathways regulating expression of RASSF8 Gene:

RASSF8

SOURCE GeneReport for Unigene cluster for RASSF8 Gene:

Hs.696433

mRNA Expression by UniProt/SwissProt for RASSF8 Gene:

Q8NHQ8-RASF8_HUMAN
Tissue specificity: Widely expressed as a 6.2 kb transcript. A 2.2 kb alternatively spliced transcript is expressed exclusively in testis.

Evidence on tissue expression from TISSUES for RASSF8 Gene

  • Lung(4.3)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with RASSF8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RASSF8 Gene

Orthologs for RASSF8 Gene

This gene was present in the common ancestor of animals.

Orthologs for RASSF8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RASSF8 34 35
  • 99.52 (n)
cow
(Bos Taurus)
Mammalia C12ORF2 35
  • 98 (a)
OneToOne
RASSF8 34
  • 92.36 (n)
oppossum
(Monodelphis domestica)
Mammalia RASSF8 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RASSF8 34 35
  • 93.72 (n)
mouse
(Mus musculus)
Mammalia Rassf8 34 16 35
  • 82.98 (n)
rat
(Rattus norvegicus)
Mammalia Rassf8 34
  • 82.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RASSF8 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves RASSF8 34 35
  • 76.21 (n)
lizard
(Anolis carolinensis)
Reptilia RASSF8 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rassf8 34
  • 69.65 (n)
zebrafish
(Danio rerio)
Actinopterygii rassf8b 34 35
  • 64.48 (n)
CABZ01003826.1 35
  • 51 (a)
OneToMany
RASSF8 (3 of 3) 35
  • 26 (a)
OneToMany
zgc64017 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001370 34
  • 49.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta RASSF8 35
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K05B2.2 35
  • 20 (a)
OneToMany
Species where no ortholog for RASSF8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 RASSF8 Gene

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

Paralogs for RASSF8 Gene

Paralogs for RASSF8 Gene

(2) SIMAP similar genes for RASSF8 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with RASSF8: view

Variants for RASSF8 Gene

Sequence variations from dbSNP and Humsavar for RASSF8 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000058218 -- 26,016,738(+) ATATT(-/TTC)TTCTT intron-variant
rs1000144332 -- 26,011,012(+) TATCA(C/G)TCACC intron-variant
rs1000163028 -- 25,972,932(+) TATAA(A/G)TGAAA intron-variant, upstream-variant-2KB
rs1000178752 -- 26,075,155(+) TGAAC(C/T)AAACA intron-variant
rs1000218681 -- 26,050,204(+) AATAT(C/G)TGCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RASSF8 Gene

Variant ID Type Subtype PubMed ID
dgv784n106 CNV deletion 24896259
esv1625213 CNV insertion 17803354
esv26656 CNV gain+loss 19812545
esv2759886 CNV loss 17122850
nsv433521 CNV loss 18776910
nsv517117 CNV loss 19592680
nsv522351 CNV loss 19592680
nsv557802 CNV gain 21841781
nsv983482 CNV duplication 23825009

Variation tolerance for RASSF8 Gene

Residual Variation Intolerance Score: 62.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.24; 40.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RASSF8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RASSF8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RASSF8 Gene

Disorders for RASSF8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RASSF8 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
synpolydactyly
  • synpolydactyly 1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RASF8_HUMAN
  • 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. {ECO:0000269 PubMed:11836357}.

Relevant External Links for RASSF8

Genetic Association Database (GAD)
RASSF8
Human Genome Epidemiology (HuGE) Navigator
RASSF8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RASSF8
genes like me logo Genes that share disorders with RASSF8: view

No data available for Genatlas for RASSF8 Gene

Publications for RASSF8 Gene

  1. The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly. (PMID: 11836357) Debeer P. … Van De Ven W.J.M. (J. Med. Genet. 2002) 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Common polymorphisms in D12S1034 flanking genes RASSF8 and BHLHB3 are not associated with lung adenocarcinoma risk. (PMID: 17194498) Falvella F.S. … Dragani T.A. (Lung Cancer 2007) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for RASSF8 Gene

Sources for RASSF8 Gene

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