RASSF8 Gene (Protein Coding)

Ras Association Domain Family Member 8

GC12P025959
GIFtS:
37
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 gen... See more...

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
  • Ras Association Domain-Containing Protein 8 3 4
  • Carcinoma-Associated Protein HOJ-1 3 4
  • C12orf2 3 4
  • Chromosome 12 Open Reading Frame 2 2
  • RASSF8 5
  • HoJ-1 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

Additional gene information for RASSF8 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RASSF8 Gene

Genomics for RASSF8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for RASSF8 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12J025957 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 264.6 +1.0 1015 4.3 CTCF ZIC2 CEBPB VEZF1 SAP130 ZNF341 GABPB1 RAD21 SIN3A KLF9 RASSF8-AS1 RASSF8 lnc-SSPN-6 ENSG00000256894 SSPN
GH12J025992 Enhancer 1.1 Ensembl ENCODE dbSUPER 16.6 +37.5 37469 8.6 ZEB1 ZIC2 CEBPB ZNF639 EP300 RFX5 ZNF843 PRDM6 JUND ZFP37 RASSF8-AS1 RASSF8 ENSG00000241846 RNU4-67P LOC107984501 lnc-SSPN-6 SSPN
GH12J026009 Enhancer 1.1 Ensembl ENCODE dbSUPER 16.3 +52.5 52469 3 FEZF1 CEBPB ZNF843 TCF7L2 PRDM6 KLF16 ZSCAN23 ZNF24 JUND ZNF189 HSALNG0089956 RASSF8 RASSF8-AS1 HE855965 lnc-SSPN-6 SSPN
GH12J026031 Enhancer 1.1 Ensembl ENCODE dbSUPER 15.7 +75.3 75319 3.5 FEZF1 ZIC2 ZNF639 ZNF843 ZNF146 PRDM6 NFE2 ZBTB1 NFE2L2 ZSCAN23 RASSF8 RASSF8-AS1 BHLHE41 lnc-SSPN-5 piR-61101-122 lnc-SSPN-6 SSPN
GH12J025828 Enhancer 0.8 Ensembl ENCODE 20.4 -128.6 -128595 3.3 BRCA1 CEBPB MAX EP300 RAD21 RFX5 SMC3 STAT3 TBP PRDM6 RASSF8 RASSF8-AS1 ENSG00000256440 piR-48820-026 LMNTD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RASSF8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RASSF8

Top Transcription factor binding sites by QIAGEN in the RASSF8 gene promoter:
  • AML1a
  • CREB
  • deltaCREB
  • E47
  • Pax-4a
  • RORalpha1
  • RP58
  • Tal-1beta
  • TBP

Genomic Locations for RASSF8 Gene

Latest Assembly
chr12:25,958,232-26,079,892
(GRCh38/hg38)
Size:
121,661 bases
Orientation:
Plus strand

Previous Assembly
chr12:26,111,615-26,232,822
(GRCh37/hg19 by Entrez Gene)
Size:
121,208 bases
Orientation:
Plus strand

chr12:26,111,962-26,232,825
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for RASSF8 Gene

Proteins for RASSF8 Gene

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  • 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; 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

Protein Expression for RASSF8 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RASSF8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RASSF8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RASSF8 Gene

Domains & Families for RASSF8 Gene

Gene Families for RASSF8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for RASSF8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RASSF8 Gene

GenScript: Design optimal peptide antigens:
  • Carcinoma-associated protein HOJ-1 (RASF8_HUMAN)
genes like me logo Genes that share domains with RASSF8: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RASSF8 Gene

Function for RASSF8 Gene

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Phenotypes From GWAS Catalog for RASSF8 Gene

Gene Ontology (GO) - Molecular Function for RASSF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with RASSF8: view
genes like me logo Genes that share phenotypes with RASSF8: view

Animal Models for RASSF8 Gene

MGI Knock Outs for RASSF8:
  • Rassf8 Rassf8<tm1.1(KOMP)Vlcg>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RASSF8

Clone products for research

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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 3
mitochondrion 2
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
See all subcellular structures

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

Pathways & Interactions for RASSF8 Gene

PathCards logo

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 --
GO:0070507 regulation of microtubule cytoskeleton organization 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

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No Compound Related Data Available

Transcripts for RASSF8 Gene

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mRNA/cDNA for RASSF8 Gene

4 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RASSF8

Clone products for research

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

Expression for RASSF8 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for RASSF8 Gene
mRNA expression by BioGPS for RASSF8 GenemRNA expression by GTEx 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, MaxQB, and MOPED for RASSF8 Gene



Protein tissue co-expression partners for RASSF8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

  • Nervous system(4.4)
  • Lung(4.3)
  • Intestine(2.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with RASSF8: view

Primer products for research

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 30 31
  • 99.52 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia C12ORF2 31
  • 98 (a)
 OneToOne
RASSF8 30
  • 92.36 (n)
Oppossum
(Monodelphis domestica)
 Mammalia RASSF8 31
  • 96 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia RASSF8 30 31
  • 93.72 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Rassf8 30 17 31
  • 82.98 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Rassf8 30
  • 82.5 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia RASSF8 31
  • 65 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves RASSF8 30 31
  • 76.21 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia RASSF8 31
  • 88 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia rassf8 30
  • 69.65 (n)
Zebrafish
(Danio rerio)
 Actinopterygii rassf8b 30 31
  • 64.48 (n)
 OneToMany
CABZ01003826.1 31
  • 51 (a)
 OneToMany
RASSF8 (3 of 3) 31
  • 26 (a)
 OneToMany
zgc64017 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001370 30
  • 49.2 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta RASSF8 31
  • 21 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea K05B2.2 31
  • 20 (a)
 OneToMany
Species where no ortholog for RASSF8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for RASSF8: view image

Paralogs for RASSF8 Gene

Paralogs for RASSF8 Gene

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

  • RASF8_HUMAN
  • F5GYP8_HUMAN
  • F5H0S5_HUMAN
  • F5H343_HUMAN
  • F5H7J1_HUMAN
  • F5H8B9_HUMAN
  • F5H8C5_HUMAN
  • H0YG85_HUMAN
genes like me logo Genes that share paralogs with RASSF8: view

Variants for RASSF8 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RASSF8 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs117015558 Likely Benign: not provided 26,065,017(+) G/A
NM_007211.5(RASSF8):c.623G>A (p.Arg208His) 		MISSENSE
rs145936448 Likely Benign: not provided 26,065,001(+) G/C
NM_007211.5(RASSF8):c.607G>C (p.Glu203Gln) 		MISSENSE
rs76879660 Benign: not provided 26,065,230(+) G/A
NM_007211.5(RASSF8):c.836G>A (p.Arg279Gln) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RASSF8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for RASSF8 Gene

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

SNP Genotyping and Copy Number Assays for research

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: COP and GCD

Disorder Aliases PubMed IDs
synpolydactyly
  • syndactyly type 2
- 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}.

Additional Disease Information for RASSF8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 WJ (Journal of medical genetics 2002) 3 4 23
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. Common polymorphisms in D12S1034 flanking genes RASSF8 and BHLHB3 are not associated with lung adenocarcinoma risk. (PMID: 17194498) Falvella FS … Dragani TA (Lung cancer (Amsterdam, Netherlands) 2007) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

ExternalLinks

View latest publications for RASSF8 gene in Mastermind

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