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Aliases for FAM78A Gene

Aliases for FAM78A Gene

  • Family With Sequence Similarity 78 Member A 2 3 5
  • C9orf59 3 4
  • Family With Sequence Similarity 78, Member A 2
  • Chromosome 9 Open Reading Frame 59 2
  • Protein FAM78A 3

External Ids for FAM78A Gene

Previous HGNC Symbols for FAM78A Gene

  • C9orf59

Previous GeneCards Identifiers for FAM78A Gene

  • GC09M131165
  • GC09M133123
  • GC09M134133
  • GC09M103624

Summaries for FAM78A Gene

GeneCards Summary for FAM78A Gene

FAM78A (Family With Sequence Similarity 78 Member A) is a Protein Coding gene. An important paralog of this gene is FAM78B.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM78A Gene

Genomics for FAM78A Gene

Regulatory Elements for FAM78A Gene

Enhancers for FAM78A 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
GH09G131251 1.9 FANTOM5 Ensembl ENCODE dbSUPER 15.9 +26.6 26621 7.4 HDGF PKNOX1 SIN3A ZNF121 DEK REST TBX21 ZNF518A KAT8 SSRP1 FAM78A QRFP PRRC2B RAPGEF1 NUP214 GC09P131253
GH09G131263 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10 +10.2 10241 15.8 HDGF PKNOX1 MLX WRNIP1 SIN3A ARID4B DMAP1 ETS1 ZNF207 ZNF143 PLPP7 NUP214 ENSG00000246851 FAM78A QRFP RAPGEF1 GC09P131253
GH09G131401 1.6 Ensembl ENCODE dbSUPER 11.3 -124.2 -124158 9.0 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 YY1 POMT1 FAM78A ENSG00000176868 SNORD62A SNORD62B LOC105376301 PRRC2B UCK1 GC09M131403 PIR32430
GH09G131232 2.2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 7.6 +45.5 45532 7.3 HDGF TBP NFIB TBL1XR1 WRNIP1 ZNF121 ZNF366 GATA2 FOS RELB FAM78A NUP214 PRRC2B ENSG00000226987 GC09P131226
GH09G131349 1.5 Ensembl ENCODE dbSUPER 10.9 -68.3 -68283 1.2 PKNOX1 SIN3A ARID4B ZNF2 ZNF48 ZBTB7B YY1 ETS1 GLIS2 ELK1 PRRC2B PLPP7 FAM78A ENSG00000176868 POMT1 LOC105376300 LOC105376299
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM78A on UCSC Golden Path with GeneCards custom track

Genomic Location for FAM78A Gene

Chromosome:
9
Start:
131,258,076 bp from pter
End:
131,281,920 bp from pter
Size:
23,845 bases
Orientation:
Minus strand

Genomic View for FAM78A Gene

Genes around FAM78A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM78A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM78A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM78A Gene

Proteins for FAM78A Gene

  • Protein details for FAM78A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JUQ0-FA78A_HUMAN
    Recommended name:
    Protein FAM78A
    Protein Accession:
    Q5JUQ0
    Secondary Accessions:
    • Q86VQ9
    • Q9H7P4

    Protein attributes for FAM78A Gene

    Size:
    283 amino acids
    Molecular mass:
    31968 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH49388.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for FAM78A Gene

Post-translational modifications for FAM78A Gene

  • Ubiquitination at Lys241
  • Glycosylation at isoforms=26
  • Modification sites at PhosphoSitePlus

Other Protein References for FAM78A Gene

No data available for DME Specific Peptides for FAM78A Gene

Domains & Families for FAM78A Gene

Protein Domains for FAM78A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM78A Gene

Graphical View of Domain Structure for InterPro Entry

Q5JUQ0

UniProtKB/Swiss-Prot:

FA78A_HUMAN :
  • Belongs to the FAM78 family.
Family:
  • Belongs to the FAM78 family.
genes like me logo Genes that share domains with FAM78A: view

No data available for Gene Families for FAM78A Gene

Function for FAM78A Gene

Phenotypes for FAM78A Gene

genes like me logo Genes that share phenotypes with FAM78A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FAM78A Gene

Localization for FAM78A 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 FAM78A gene
Compartment Confidence
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
nucleus 1
cytosol 1
golgi apparatus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM78A Gene

Pathways & Interactions for FAM78A Gene

SuperPathways for FAM78A Gene

No Data Available

Interacting Proteins for FAM78A Gene

Selected Interacting proteins: Q5JUQ0-FA78A_HUMAN for FAM78A Gene via IID

Gene Ontology (GO) - Biological Process for FAM78A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM78A Gene

Drugs & Compounds for FAM78A Gene

No Compound Related Data Available

Transcripts for FAM78A Gene

Unigene Clusters for FAM78A Gene

Family with sequence similarity 78, member A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM78A Gene

No ASD Table

Relevant External Links for FAM78A Gene

GeneLoc Exon Structure for
FAM78A
ECgene alternative splicing isoforms for
FAM78A

Expression for FAM78A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM78A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM78A Gene

This gene is overexpressed in Whole Blood (x7.0), Heart - Atrial Appendage (x5.7), Heart - Left Ventricle (x4.6), and Spleen (x4.5).

Protein differential expression in normal tissues from HIPED for FAM78A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (53.4) and CD8 Tcells (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM78A Gene



Protein tissue co-expression partners for FAM78A Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM78A Gene:

FAM78A

SOURCE GeneReport for Unigene cluster for FAM78A Gene:

Hs.143878
genes like me logo Genes that share expression patterns with FAM78A: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM78A Gene

Orthologs for FAM78A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM78A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM78A 34 35
  • 99.18 (n)
cow
(Bos Taurus)
Mammalia FAM78A 34
  • 92.89 (n)
C9ORF59 35
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM78A 34 35
  • 92.58 (n)
mouse
(Mus musculus)
Mammalia Fam78a 34 16 35
  • 92.34 (n)
rat
(Rattus norvegicus)
Mammalia Fam78a 34
  • 91.05 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM78A 35
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM78A 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM78A 34 35
  • 83.9 (n)
lizard
(Anolis carolinensis)
Reptilia FAM78A 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam78a 34
  • 73.76 (n)
zebrafish
(Danio rerio)
Actinopterygii fam78ab 34 35
  • 74.43 (n)
fam78aa 35
  • 64 (a)
OneToMany
Dr.16888 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
OneToMany
Species where no ortholog for FAM78A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for FAM78A Gene

ENSEMBL:
Gene Tree for FAM78A (if available)
TreeFam:
Gene Tree for FAM78A (if available)

Paralogs for FAM78A Gene

Paralogs for FAM78A Gene

(8) SIMAP similar genes for FAM78A Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with FAM78A: view

Variants for FAM78A Gene

Sequence variations from dbSNP and Humsavar for FAM78A Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000071474 -- 131,275,577(+) ATGTC(C/T)CTCTG intron-variant
rs1000088752 -- 131,270,828(+) CTTCA(C/G)GTCTT intron-variant, upstream-variant-2KB
rs1000117219 -- 131,269,863(+) TATGC(A/G)GGCCC intron-variant
rs1000217994 -- 131,264,300(+) CCCTG(G/T)CTCAG intron-variant
rs1000301991 -- 131,266,643(+) ACGCC(A/G)CTGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAM78A Gene

Variant ID Type Subtype PubMed ID
esv2660985 CNV deletion 23128226
esv3621876 CNV loss 21293372
nsv466602 CNV loss 19166990
nsv509327 CNV insertion 20534489
nsv615535 CNV loss 21841781
nsv825126 CNV gain 20364138
nsv831739 CNV loss 17160897
nsv951790 CNV deletion 24416366

Variation tolerance for FAM78A Gene

Residual Variation Intolerance Score: 31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.83; 17.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM78A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM78A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM78A Gene

Disorders for FAM78A Gene

Relevant External Links for FAM78A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM78A

No disorders were found for FAM78A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM78A Gene

Publications for FAM78A Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64
  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 64
  4. Characterization of long cDNA clones from human adult spleen. (PMID: 11214971) Hattori A. … Ohara O. (DNA Res. 2000) 2 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for FAM78A Gene

Sources for FAM78A Gene

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