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Aliases for FAM206A Gene

Aliases for FAM206A Gene

  • Family With Sequence Similarity 206 Member A 2 3 5
  • Protein FAM206A 3 4
  • C9orf6 3 4
  • Family With Sequence Similarity 206, Member A 2
  • Chromosome 9 Open Reading Frame 6 2
  • Protein Simiate 3
  • Simiate 3
  • CG-8 3

External Ids for FAM206A Gene

Previous HGNC Symbols for FAM206A Gene

  • C9orf6

Previous GeneCards Identifiers for FAM206A Gene

  • GC09P111697

Summaries for FAM206A Gene

GeneCards Summary for FAM206A Gene

FAM206A (Family With Sequence Similarity 206 Member A) is a Protein Coding gene. Diseases associated with FAM206A include Peroxisome Biogenesis Disorder 1B.

Additional gene information for FAM206A Gene

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 FAM206A Gene

Genomics for FAM206A Gene

GeneHancer (GH) Regulatory Elements for FAM206A Gene

Promoters and enhancers for FAM206A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I108931 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -0.5 -547 3.5 HDGF PKNOX1 ARID4B SIN3A DMAP1 IRF4 YY1 POLR2B E2F8 ZNF143 ELP1 FAM206A FRRS1L CTNNAL1 ACTL7A
GH09I109096 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.8 +165.7 165717 6.5 HDGF PKNOX1 FOXA2 ARNT ARID4B FEZF1 IRF4 YY1 ATF7 FOS ELP1 CTNNAL1 FRRS1L TMEM245 FAM206A MIR32 ENSG00000199331 GC09M109081
GH09I109113 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.8 +183.3 183325 9 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 IRF4 YY1 TMEM245 FRRS1L ELP1 CTNNAL1 MIR32 ENSG00000199331 FAM206A GC09M109081
GH09I108883 Enhancer 1 ENCODE 11.2 -47.8 -47762 8.1 FOXA2 SMAD1 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 TCF12 SLC30A9 CTNNAL1 ELP1 FRRS1L ACTL7A ACTL7B FAM206A EPB41L4B TMEM245 RPL31P43
GH09I109091 Enhancer 0.5 dbSUPER 10.8 +158.6 158623 2.5 ZNF366 ZNF512 JUNB BATF CTNNAL1 TMEM245 ELP1 FAM206A MIR32 ENSG00000199331 GC09M109081
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM206A on UCSC Golden Path with GeneCards custom track

Genomic Locations for FAM206A Gene

Genomic Locations for FAM206A Gene
16,861 bases
Plus strand

Genomic View for FAM206A Gene

Genes around FAM206A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM206A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM206A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM206A Gene

Proteins for FAM206A Gene

  • Protein details for FAM206A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Simiate
    Protein Accession:
    Secondary Accessions:
    • Q5JTR0
    • Q5JTR1

    Protein attributes for FAM206A Gene

    181 amino acids
    Molecular mass:
    20378 Da
    Quaternary structure:
    No Data Available
    • Depletion of FAM206A/Simiate by siRNA or neutralizing antibodies results in cell death within a few hours.
    • Sequence=CAI39468.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI39469.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for FAM206A Gene

Post-translational modifications for FAM206A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM206A Gene

No data available for DME Specific Peptides for FAM206A Gene

Domains & Families for FAM206A Gene

Gene Families for FAM206A Gene

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

Protein Domains for FAM206A Gene

Suggested Antigen Peptide Sequences for FAM206A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the FAM206 family.
  • Belongs to the FAM206 family.
genes like me logo Genes that share domains with FAM206A: view

Function for FAM206A Gene

Phenotypes From GWAS Catalog for FAM206A Gene

Gene Ontology (GO) - Molecular Function for FAM206A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15607035
genes like me logo Genes that share ontologies with FAM206A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM206A Gene

Localization for FAM206A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM206A Gene

Nucleus speckle. Note=Localizes to somata and dendrites in cortical neurons. {ECO:0000250}.

Subcellular locations from

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 FAM206A gene
Compartment Confidence
nucleus 4
cytosol 3
extracellular 2
peroxisome 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM206A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0016607 nuclear speck IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with FAM206A: view

Pathways & Interactions for FAM206A Gene

SuperPathways for FAM206A Gene

No Data Available

Interacting Proteins for FAM206A Gene

Gene Ontology (GO) - Biological Process for FAM206A Gene


No data available for Pathways by source and SIGNOR curated interactions for FAM206A Gene

Drugs & Compounds for FAM206A Gene

No Compound Related Data Available

Transcripts for FAM206A Gene

Unigene Clusters for FAM206A Gene

Family with sequence similarity 206, member A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM206A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d
SP1: -
SP3: - -
SP4: - - -

Relevant External Links for FAM206A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FAM206A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM206A Gene

Protein differential expression in normal tissues from HIPED for FAM206A Gene

This gene is overexpressed in Heart (49.6) and Lymph node (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM206A Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM206A Gene:


SOURCE GeneReport for Unigene cluster for FAM206A Gene:

genes like me logo Genes that share expression patterns with FAM206A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM206A Gene

Orthologs for FAM206A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FAM206A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FAM206A 33 34
  • 99.45 (n)
(Canis familiaris)
Mammalia FAM206A 33 34
  • 92.55 (n)
(Bos Taurus)
Mammalia FAM206A 33 34
  • 90.61 (n)
(Rattus norvegicus)
Mammalia Fam206a 33
  • 88.26 (n)
(Mus musculus)
Mammalia BC026590 34 33
  • 86.59 (n)
Fam206a 16
(Monodelphis domestica)
Mammalia FAM206A 34
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia FAM206A 34
  • 76 (a)
(Gallus gallus)
Aves FAM206A 33 34
  • 74.85 (n)
(Anolis carolinensis)
Reptilia FAM206A 34
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fam206a 33
  • 71.63 (n)
Str.1518 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.3630 33
(Danio rerio)
Actinopterygii fam206a 33 34
  • 68.65 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6676 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002455 33
  • 48.58 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9288 33 34
  • 48.53 (n)
(Caenorhabditis elegans)
Secernentea F54F2.7 34
  • 27 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G75980 33
  • 46.84 (n)
(Oryza sativa)
Liliopsida Os02g0120400 33
  • 47.26 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
Species where no ortholog for FAM206A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FAM206A Gene

Gene Tree for FAM206A (if available)
Gene Tree for FAM206A (if available)

Paralogs for FAM206A Gene Pseudogenes for FAM206A Gene

genes like me logo Genes that share paralogs with FAM206A: view

No data available for Paralogs for FAM206A Gene

Variants for FAM206A Gene

Sequence variations from dbSNP and Humsavar for FAM206A Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs117100816 uncertain-significance, Familial dysautonomia 108,933,963(+) T/A/C upstream_transcript_variant
rs138630440 uncertain-significance, Familial dysautonomia 108,933,985(+) G/A/C upstream_transcript_variant
rs2275639 benign, likely-benign, not specified, Familial dysautonomia 108,933,879(+) C/G upstream_transcript_variant
rs2275640 likely-benign, Familial dysautonomia 108,933,934(+) A/C/G upstream_transcript_variant
rs2275641 likely-benign, Familial dysautonomia 108,934,109(+) G/C upstream_transcript_variant

Variation tolerance for FAM206A Gene

Residual Variation Intolerance Score: 69.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.93; 35.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM206A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FAM206A Gene

Disorders for FAM206A Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM206A Gene - From: DISEASES

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 1b
  • pbd1b
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM206A

genes like me logo Genes that share disorders with FAM206A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM206A Gene

Publications for FAM206A Gene

  1. Identification and characterisation of Simiate, a novel protein linked to the fragile X syndrome. (PMID: 24349419) Derlig K … Dahlhaus R (PloS one 2013) 2 3 4 58
  2. Simiate is an Actin binding protein involved in filopodia dynamics and arborization of neurons. (PMID: 24782708) Derlig K … Dahlhaus R (Frontiers in cellular neuroscience 2014) 2 3 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 58
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for FAM206A Gene

Sources for FAM206A Gene

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