RASSF8
Ras association domain-containing protein 8
Also known as: C12orf2, HoJ-1, RASF8_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8NHQ8
- Gene
- RASSF8
- Ensembl
- ENSG00000123094
- Chromosome
- 12
- Canonical length
- 419 aa
- Protein class
- Disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Mitochondria,Cytosol
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
419 residues, UniProt reviewed canonical sequence.
>Q8NHQ8|RASSF8
1 MELKVWVDGV QRIVCGVTEV TTCQEVVIAL AQAIGRTGRY TLIEKWRDTE RHLAPHENPI
61 ISLNKWGQYA SDVQLILRRT GPSLSERPTS DSVARIPERT LYRQSLPPLA KLRPQIDKSI
121 KRREPKRKSL TFTGGAKGLM DIFGKGKETE FKQKVLNNCK TTADELKKLI RLQTEKLQSI
181 EKQLESNEIE IRFWEQKYNS NLEEEIVRLE QKIKRNDVEI EEEEFWENEL QIEQENEKQL
241 KDQLQEIRQK ITECENKLKD YLAQIRTMES GLEAEKLQRE VQEAQVNEEE VKGKIGKVKG
301 EIDIQGQQSL RLENGIKAVE RSLGQATKRL QDKEQELEQL TKELRQVNLQ QFIQQTGTKV
361 TVLPAEPIEI EASHADIERE APFQSGSLKR PGSSRQLPSN LRILQNPISS GFNPEGIYVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RASSF8 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Unknown
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.52
- Highest tissue expression
- 56 nTPM
Expression across tissuesHPA
Tissue
- testis: 56 nTPM
- endometrium: 26 nTPM
- kidney: 21 nTPM
- ovary: 21 nTPM
- smooth muscle: 18 nTPM
- gallbladder: 16 nTPM
Single-cell type
- retinal horizontal cells: 1,322 nCPM
- late spermatids: 1,048 nCPM
- epicardial cells: 894 nCPM
- early spermatids: 661 nCPM
- microglia: 621 nCPM
- podocytes: 604 nCPM
Immune cell
- plasmacytoid DC: 1.1 nTPM
- NK-cell: 0.4 nTPM
- basophil: 0.2 nTPM
- neutrophil: 0.2 nTPM
- classical monocyte: 0.1 nTPM
- gdT-cell: 0.1 nTPM
Brain region
- medulla oblongata: 68 nTPM
- white matter: 65 nTPM
- midbrain: 63 nTPM
- spinal cord: 62 nTPM
- hypothalamus: 61 nTPM
- cerebellum: 60 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.35
- gnomAD pLI
- 0.94
- gnomAD missense Z
- 1.1
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Protein domainsUniProt · Pfam · InterPro
- Ras-associating domain
- Ubiquitin-like domain superfamily
- N-terminal RASSF family
- Ras association domain-containing protein 8/10, RA domain
- Ras association domain-containing protein 8/10, RA domain
- Ras association domain-containing protein 8, RA domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RASSF8 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RASSF8 as an antibody target. Whether an autoantibody or antibody against RASSF8 could matter depends on whether native RASSF8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RASSF8 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label RASSF8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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