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Aliases for FAM83D Gene

Aliases for FAM83D Gene

  • Family With Sequence Similarity 83 Member D 2 3 5
  • Spindle Protein CHICA 3 4
  • C20orf129 3 4
  • Family With Sequence Similarity 83, Member D 2
  • Chromosome 20 Open Reading Frame 129 2
  • Protein FAM83D 3
  • DJ616B8.3 3
  • CHICA 3

External Ids for FAM83D Gene

Previous HGNC Symbols for FAM83D Gene

  • C20orf129

Previous GeneCards Identifiers for FAM83D Gene

  • GC20P036989
  • GC20P037554
  • GC20P034292

Summaries for FAM83D Gene

GeneCards Summary for FAM83D Gene

FAM83D (Family With Sequence Similarity 83 Member D) is a Protein Coding gene. Diseases associated with FAM83D include Kleine-Levin Hibernation Syndrome. An important paralog of this gene is FAM83H.

UniProtKB/Swiss-Prot for FAM83D Gene

  • Probable proto-oncogene that regulates cell proliferation, growth, migration and epithelial to mesenchymal transition. Through the degradation of FBXW7, may act indirectly on the expression and downstream signaling of MTOR, JUN and MYC (PubMed:24344117). May play also a role in cell proliferation through activation of the ERK1/ERK2 signaling cascade (PubMed:25646692). May also be important for proper chromosome congression and alignment during mitosis through its interaction with KIF22.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM83D Gene

Genomics for FAM83D Gene

Regulatory Elements for FAM83D Gene

Enhancers for FAM83D 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
GH20G038960 1.4 ENCODE dbSUPER 28.9 +37.1 37054 2.5 HNRNPUL1 PKNOX1 MLX CREB3L1 AGO1 ARID4B SIN3A FEZF1 DMAP1 YY1 FAM83D DHX35 SNORA60 ENSG00000261431
GH20G038946 1.3 ENCODE dbSUPER 29 +22.8 22791 2.3 HDGF PKNOX1 ATF1 CREB3L1 ARNT E2F7 TCF12 ZNF766 ELK1 GATA2 FAM83D DHX35 GC20M038952
GH20G038897 1.2 dbSUPER 27.5 -25.0 -25007 5.8 FOXA2 PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 FAM83D SNORA71A TTI1 ACTR5 SNHG17 RN7SKP173 SNORA71C RPRD1B DHX35 SNORA71B
GH20G038969 1 ENCODE dbSUPER 29.2 +45.2 45216 1.9 KLF1 PKNOX1 ZBTB21 KLF17 RBBP5 ZFHX2 GLIS2 POLR2A EGR1 PRDM10 FAM83D DHX35 NPM1P19 ENSG00000277581
GH20G038925 1.4 ENCODE dbSUPER 19.5 +3.0 2997 4.8 HNRNPUL1 CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 FAM83D SNHG17 ACTR5 SNORA60 SNORA71A DHX35 GC20M038952
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM83D on UCSC Golden Path with GeneCards custom track

Promoters for FAM83D Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000137061 1822 1801 HNRNPUL1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CBX5

Genomic Location for FAM83D Gene

Chromosome:
20
Start:
38,925,078 bp from pter
End:
38,953,106 bp from pter
Size:
28,029 bases
Orientation:
Plus strand

Genomic View for FAM83D Gene

Genes around FAM83D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM83D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM83D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM83D Gene

Proteins for FAM83D Gene

  • Protein details for FAM83D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H4H8-FA83D_HUMAN
    Recommended name:
    Protein FAM83D
    Protein Accession:
    Q9H4H8
    Secondary Accessions:
    • B4E1I7
    • Q5THR2
    • Q68EN1
    • Q6P457
    • Q7Z6H0
    • Q96DF5
    • Q96N89
    • Q9BVM8

    Protein attributes for FAM83D Gene

    Size:
    585 amino acids
    Molecular mass:
    64424 Da
    Quaternary structure:
    • Interacts with FBXW7; promotes FBXW7 degradation (PubMed:24344117). May interact with RAF1 (PubMed:24736947). Interacts with KIF22; recruits KIF22 to mitotic spindle microtubules (PubMed:18485706).
    Miscellaneous:
    • Was named CHICA (girl in Spanish) because it interacts with KID.
    SequenceCaution:
    • Sequence=AAH01068.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH06553.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH53683.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH63661.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH80188.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB71016.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB71016.1; Type=Erroneous termination; Positions=262; Note=Translated as Trp.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FAM83D Gene

    Alternative splice isoforms for FAM83D Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM83D Gene

Post-translational modifications for FAM83D Gene

Other Protein References for FAM83D Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM83D Gene

Domains & Families for FAM83D Gene

Protein Domains for FAM83D Gene

Suggested Antigen Peptide Sequences for FAM83D Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H4H8

UniProtKB/Swiss-Prot:

FA83D_HUMAN :
  • Belongs to the FAM83 family.
Family:
  • Belongs to the FAM83 family.
genes like me logo Genes that share domains with FAM83D: view

No data available for Gene Families for FAM83D Gene

Function for FAM83D Gene

Molecular function for FAM83D Gene

UniProtKB/Swiss-Prot Function:
Probable proto-oncogene that regulates cell proliferation, growth, migration and epithelial to mesenchymal transition. Through the degradation of FBXW7, may act indirectly on the expression and downstream signaling of MTOR, JUN and MYC (PubMed:24344117). May play also a role in cell proliferation through activation of the ERK1/ERK2 signaling cascade (PubMed:25646692). May also be important for proper chromosome congression and alignment during mitosis through its interaction with KIF22.
UniProtKB/Swiss-Prot Induction:
Up-regulated during mitosis.

Gene Ontology (GO) - Molecular Function for FAM83D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24344117
GO:0008017 microtubule binding IDA 18485706
GO:0019894 kinesin binding IPI 18485706
GO:0019901 protein kinase binding IPI 24736947
genes like me logo Genes that share ontologies with FAM83D: view
genes like me logo Genes that share phenotypes with FAM83D: view

Animal Model Products

  • Taconic Biosciences Mouse Models for FAM83D

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM83D Gene

Localization for FAM83D Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM83D Gene

Cytoplasm. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Note=Primarily cytoplasmic during interphase, but at prophase, associates with spindle microtubules, with a clear concentration toward the spindle poles. It persists on spindle microtubules through metaphase and anaphase. {ECO:0000269 PubMed:18485706}.

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 FAM83D gene
Compartment Confidence
cytoskeleton 5
mitochondrion 3
nucleus 1

Gene Ontology (GO) - Cellular Components for FAM83D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 18485706
GO:0005819 spindle IEA --
GO:0005856 cytoskeleton IEA --
GO:0097431 mitotic spindle pole IDA 15561729
genes like me logo Genes that share ontologies with FAM83D: view

Pathways & Interactions for FAM83D Gene

SuperPathways for FAM83D Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM83D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001837 epithelial to mesenchymal transition IDA 24344117
GO:0007049 cell cycle IEA --
GO:0007067 mitotic nuclear division IEA --
GO:0008283 cell proliferation IDA 24344117
GO:0016477 cell migration IDA 24344117
genes like me logo Genes that share ontologies with FAM83D: view

No data available for Pathways by source and SIGNOR curated interactions for FAM83D Gene

Drugs & Compounds for FAM83D Gene

No Compound Related Data Available

Transcripts for FAM83D Gene

mRNA/cDNA for FAM83D Gene

Unigene Clusters for FAM83D Gene

Family with sequence similarity 83, member D:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM83D Gene

No ASD Table

Relevant External Links for FAM83D Gene

GeneLoc Exon Structure for
FAM83D
ECgene alternative splicing isoforms for
FAM83D

Expression for FAM83D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM83D Gene

mRNA differential expression in normal tissues according to GTEx for FAM83D Gene

This gene is overexpressed in Esophagus - Muscularis (x9.4), Colon - Sigmoid (x7.2), Esophagus - Mucosa (x6.2), Esophagus - Gastroesophageal Junction (x6.0), Small Intestine - Terminal Ileum (x5.1), and Stomach (x4.7).

Protein differential expression in normal tissues from HIPED for FAM83D Gene

This gene is overexpressed in Cerebrospinal fluid (60.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM83D Gene



NURSA nuclear receptor signaling pathways regulating expression of FAM83D Gene:

FAM83D

SOURCE GeneReport for Unigene cluster for FAM83D Gene:

Hs.726442

Evidence on tissue expression from TISSUES for FAM83D Gene

  • Kidney(4.1)
  • Lung(4)
genes like me logo Genes that share expression patterns with FAM83D: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM83D Gene

Orthologs for FAM83D Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM83D Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM83D 34 35
  • 98.26 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM83D 35
  • 84 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FAM83D 34 35
  • 81.92 (n)
dog
(Canis familiaris)
Mammalia FAM83D 34 35
  • 80.99 (n)
rat
(Rattus norvegicus)
Mammalia Fam83d 34
  • 80.03 (n)
mouse
(Mus musculus)
Mammalia Fam83d 34 16 35
  • 79.17 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM83D 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM83D 34 35
  • 69.48 (n)
lizard
(Anolis carolinensis)
Reptilia FAM83D 35
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496367 34
  • 58.09 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.33403 34
zebrafish
(Danio rerio)
Actinopterygii fam83d 34 35
  • 53.98 (n)
Species where no ortholog for FAM83D was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for FAM83D Gene

ENSEMBL:
Gene Tree for FAM83D (if available)
TreeFam:
Gene Tree for FAM83D (if available)

Paralogs for FAM83D Gene

Paralogs for FAM83D Gene

Pseudogenes.org Pseudogenes for FAM83D Gene

genes like me logo Genes that share paralogs with FAM83D: view

Variants for FAM83D Gene

Sequence variations from dbSNP and Humsavar for FAM83D Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000368391 -- 38,932,608(+) GTATC(A/T)GTTGA intron-variant
rs1000441971 -- 38,932,301(+) GGATT(A/G)CTTGA intron-variant
rs1000623073 -- 38,926,252(+) CCAAT(A/T)ACGCA upstream-variant-2KB
rs1000706218 -- 38,931,086(+) CACTC(C/T)TAATC intron-variant
rs1000778200 -- 38,930,885(+) CCTGC(C/G)TCAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAM83D Gene

Variant ID Type Subtype PubMed ID
esv3645792 CNV gain 21293372
esv3645793 CNV gain 21293372
esv3645794 CNV loss 21293372
esv3645795 CNV gain 21293372
esv3645796 CNV loss 21293372
esv3645797 CNV gain 21293372
esv3645798 CNV loss 21293372
nsv3374 CNV deletion 18451855

Variation tolerance for FAM83D Gene

Residual Variation Intolerance Score: 53.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.09; 90.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM83D Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM83D

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM83D Gene

Disorders for FAM83D Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM83D Gene - From: DISEASES

Disorder Aliases PubMed IDs
kleine-levin hibernation syndrome
  • kleine-levin syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FAM83D

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM83D
genes like me logo Genes that share disorders with FAM83D: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM83D Gene

Publications for FAM83D Gene

  1. The spindle protein CHICA mediates localization of the chromokinesin Kid to the mitotic spindle. (PMID: 18485706) Santamaria A. … Nigg E.A. (Curr. Biol. 2008) 2 3 4 64
  2. FAM83D activates the MEK/ERK signaling pathway and promotes cell proliferation in hepatocellular carcinoma. (PMID: 25646692) Wang D. … Li X.C. (Biochem. Biophys. Res. Commun. 2015) 3 4 64
  3. Conserved oncogenic behavior of the FAM83 family regulates MAPK signaling in human cancer. (PMID: 24736947) Cipriano R. … Jackson M.W. (Mol. Cancer Res. 2014) 3 4 64
  4. FAM83D promotes cell proliferation and motility by downregulating tumor suppressor gene FBXW7. (PMID: 24344117) Wang Z. … Mao J.H. (Oncotarget 2013) 3 4 64
  5. Meta-analysis of the expression of the mitosis-related gene Fam83D. (PMID: 23205133) Varisli L. (Oncol Lett 2012) 2 3 64

Products for FAM83D Gene

Sources for FAM83D Gene

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