Aliases for FAM83D Gene

Aliases for FAM83D Gene

  • Family With Sequence Similarity 83 Member D 2 3 5
  • Spindle Protein CHICA 3 4
  • Protein FAM83D 3 4
  • C20orf129 3 4
  • Family With Sequence Similarity 83, Member D 2
  • Chromosome 20 Open Reading Frame 129 2
  • 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. An important paralog of this gene is FAM83G.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for FAM83D Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM83D Gene

Genomics for FAM83D Gene

GeneHancer (GH) Regulatory Elements for FAM83D Gene

Promoters and enhancers for FAM83D 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
GH20J038925 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 769.4 +2.7 2658 5.5 ZNF24 ZBTB40 SP1 CTCF MLX RBPJ POLR2A FOS MIXL1 RUNX1 FAM83D RALGAPB ACTR5 DHX35 SNHG11 SNHG17 SNORA71A RN7SKP173 SNORA71C KIAA1755
GH20J038960 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 28.9 +37.4 37370 3.1 SIN3A ZBTB40 SP1 CTCF SREBF1 FOXA1 LCORL MLX SMARCE1 RBPJ DHX35 ENSG00000277581 ENSG00000261431 SNHG17 ACTR5 FAM83D RALGAPB SNORA71C RN7SKP173 SNORA71A
GH20J038946 Enhancer 1.1 ENCODE dbSUPER 29 +22.8 22790 2.3 ZBTB40 SMARCE1 RUNX1 CC2D1A L3MBTL2 DACH1 TEAD4 ZKSCAN8 ZNF148 GTF2F1 FAM83D SNHG17 RN7SKP173 SNORA71A SNORA71C ACTR5 RALGAPB RPS3P2 TTI1 RPRD1B
GH20J038969 Enhancer 0.8 Ensembl ENCODE dbSUPER 29.2 +45.3 45302 2 PRDM1 POLR2A PRDM10 ZNF629 CREM JUND ZBTB21 FAM83D DHX35 piR-45035-122 piR-47132-003
GH20J038973 Enhancer 0.8 Ensembl ENCODE dbSUPER 28.5 +48.8 48823 1.8 SCRT2 SCRT1 ZNF335 PRDM6 FAM83D piR-47132-003 piR-45035-122 DHX35
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM83D on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM83D gene promoter:
  • AREB6
  • c-Myc
  • E47
  • E4BP4
  • Hand1
  • Max
  • p53
  • Pax-4a
  • Pax-5
  • POU3F1

Genomic Locations for FAM83D Gene

Genomic Locations for FAM83D Gene
chr20:38,925,078-38,953,106
(GRCh38/hg38)
Size:
28,029 bases
Orientation:
Plus strand
chr20:37,554,955-37,581,703
(GRCh37/hg19)
Size:
26,749 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

Gene Families for FAM83D Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM83D Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM83D Gene

GenScript: Design optimal peptide antigens:
  • Spindle protein CHICA (FA83D_HUMAN)

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

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.

Phenotypes From GWAS Catalog for FAM83D Gene

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

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 2
nucleus 0

Gene Ontology (GO) - Cellular Components for FAM83D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FAM83D Gene

Pathways & Interactions for FAM83D Gene

PathCards logo

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:0008283 cell proliferation IDA 24344117
GO:0016477 cell migration IDA 24344117
GO:0032006 regulation of TOR signaling 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

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(353) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR 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

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 33 32
  • 98.26 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM83D 33
  • 84 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FAM83D 33 32
  • 81.92 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM83D 33 32
  • 80.99 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam83d 32
  • 80.03 (n)
mouse
(Mus musculus)
Mammalia Fam83d 17 33 32
  • 79.17 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM83D 33
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM83D 33 32
  • 69.48 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM83D 33
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496367 32
  • 58.09 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.33403 32
zebrafish
(Danio rerio)
Actinopterygii fam83d 33 32
  • 53.98 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for FAM83D: view image

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 Variation AA Info Type
rs1000368391 -- 38,932,608(+) T/A genic_upstream_transcript_variant, intron_variant
rs1000441971 -- 38,932,301(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000623073 -- 38,926,252(+) A/C/T upstream_transcript_variant
rs1000706218 -- 38,931,086(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000778200 -- 38,930,885(+) C/G/T genic_upstream_transcript_variant, 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)

Additional Variant Information 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

Additional Disease Information for FAM83D

No disorders were found for FAM83D Gene.

No data available for MalaCards , 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 EA (Current biology : CB 2008) 2 3 4 56
  2. FAM83D activates the MEK/ERK signaling pathway and promotes cell proliferation in hepatocellular carcinoma. (PMID: 25646692) Wang D … Li XC (Biochemical and biophysical research communications 2015) 3 4 56
  3. Conserved oncogenic behavior of the FAM83 family regulates MAPK signaling in human cancer. (PMID: 24736947) Cipriano R … Jackson MW (Molecular cancer research : MCR 2014) 3 4 56
  4. FAM83D promotes cell proliferation and motility by downregulating tumor suppressor gene FBXW7. (PMID: 24344117) Wang Z … Mao JH (Oncotarget 2013) 3 4 56
  5. Meta-analysis of the expression of the mitosis-related gene Fam83D. (PMID: 23205133) Varisli L (Oncology letters 2012) 2 3 56

Products for FAM83D Gene

Sources for FAM83D Gene