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Aliases for RASSF8 Gene

Aliases for RASSF8 Gene

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

External Ids for RASSF8 Gene

Previous Symbols for RASSF8 Gene

  • C12orf2

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 (RalGDS/AF-6) Domain Family (N-Terminal) 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 UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RASSF8 Gene

Genomics for RASSF8 Gene

Genomic Location for RASSF8 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RASSF8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RASSF8 Gene

Regulatory Elements 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

Proteomics data for RASSF8 Gene at MOPED

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 for RASSF8 Gene

Protein Domains for RASSF8 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

RASF8_HUMAN
Domain:
  • Contains 1 Ras-associating domain.:
    • Q8NHQ8
genes like me logo Genes that share domains with RASSF8: view

No data available for Gene Families for RASSF8 Gene

Function for RASSF8 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for RASSF8 Gene

Localization for RASSF8 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RASSF8 Gene COMPARTMENTS Subcellular localization image for RASSF8 gene
Compartment Confidence
cytosol 3
nucleus 2
cytoskeleton 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for RASSF8 Gene

Pathways 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 --
genes like me logo Genes that share ontologies with RASSF8: view

No data available for Pathways by source for RASSF8 Gene

Transcripts for RASSF8 Gene

Unigene Clusters for RASSF8 Gene

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

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 for RASSF8 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RASSF8 Gene

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.
genes like me logo Genes that share expressions with RASSF8: view

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 36
  • 99.52 (n)
  • 99.76 (a)
RASSF8 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C12ORF2 37
  • 98 (a)
OneToOne
RASSF8 36
  • 92.36 (n)
  • 98.09 (a)
dog
(Canis familiaris)
Mammalia RASSF8 36
  • 93.72 (n)
  • 98.81 (a)
RASSF8 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rassf8 36
  • 82.98 (n)
  • 91.65 (a)
Rassf8 16
Rassf8 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RASSF8 37
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RASSF8 37
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rassf8 36
  • 82.5 (n)
  • 90.45 (a)
chicken
(Gallus gallus)
Aves RASSF8 36
  • 76.21 (n)
  • 90.45 (a)
RASSF8 37
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RASSF8 37
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rassf8 36
  • 69.65 (n)
  • 76.73 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01003826.1 37
  • 51 (a)
OneToMany
RASSF8 (3 of 3) 37
  • 26 (a)
OneToMany
rassf8b 36
  • 64.48 (n)
  • 68.37 (a)
rassf8b 37
  • 65 (a)
OneToMany
zgc64017 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001370 36
  • 49.2 (n)
  • 41.21 (a)
fruit fly
(Drosophila melanogaster)
Insecta RASSF8 37
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K05B2.2 37
  • 20 (a)
OneToMany
Species with no ortholog for RASSF8:
  • 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

Selected 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 MAF
rs706523 -- 25,964,236(-) AATGG(A/G)TAATA intron-variant
rs706524 -- 25,967,643(-) AACAA(A/C)CCAGA intron-variant
rs706525 -- 25,968,014(-) AGCAA(A/G)AAGTC intron-variant
rs706526 -- 25,968,632(-) gtgcg(A/G)tggct intron-variant
rs706527 -- 25,968,687(-) GGGGC(A/G)TGCAG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv485e1 CNV Complex 17122850
esv26656 CNV Gain+Loss 19812545
nsv898931 CNV Gain 21882294
nsv433521 CNV Loss 18776910
nsv517117 CNV Loss 19592680
nsv522351 CNV Loss 19592680
esv1625213 CNV Insertion 17803354

Relevant External Links for RASSF8 Gene

HapMap Linkage Disequilibrium report
RASSF8

Disorders for RASSF8 Gene

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.

(1) MalaCards Diseases for RASSF8 Gene

Search for RASSF8 Gene in MalaCards »

Relevant External Links for RASSF8

Genetic Association Database (GAD)
RASSF8
Human Genome Epidemiology (HuGE) Navigator
RASSF8
genes like me logo Genes that share disorders with RASSF8: view

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 23
  2. Physical map of a 1.5 mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint. (PMID: 10951517) Debeer P. … Van de Ven W.J.M. (Eur. J. Hum. Genet. 2000) 3 4
  3. 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
  4. 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 49
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for RASSF8 Gene

Sources for RASSF8 Gene

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