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Aliases for FAM189A2 Gene

Aliases for FAM189A2 Gene

  • Family With Sequence Similarity 189 Member A2 2 3 5
  • Family With Sequence Similarity 189, Member A2 2 3
  • C9orf61 3 4
  • X123 3 4
  • Chromosome 9 Open Reading Frame 61 2
  • Friedreich Ataxia Region Gene X123 3
  • Protein X123 4

External Ids for FAM189A2 Gene

Previous HGNC Symbols for FAM189A2 Gene

  • C9orf61

Previous GeneCards Identifiers for FAM189A2 Gene

  • GC09P071134
  • GC09P071939
  • GC09P041778

Summaries for FAM189A2 Gene

GeneCards Summary for FAM189A2 Gene

FAM189A2 (Family With Sequence Similarity 189 Member A2) is a Protein Coding gene. Diseases associated with FAM189A2 include friedreich ataxia. An important paralog of this gene is FAM189A1.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM189A2 Gene

Genomics for FAM189A2 Gene

Regulatory Elements for FAM189A2 Gene

Promoters for FAM189A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAM189A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for FAM189A2 Gene

Chromosome:
9
Start:
69,324,572 bp from pter
End:
69,392,456 bp from pter
Size:
67,885 bases
Orientation:
Plus strand

Genomic View for FAM189A2 Gene

Genes around FAM189A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM189A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM189A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM189A2 Gene

Proteins for FAM189A2 Gene

  • Protein details for FAM189A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15884-F1892_HUMAN
    Recommended name:
    Protein FAM189A2
    Protein Accession:
    Q15884
    Secondary Accessions:
    • Q14CN5
    • Q5T6C8
    • Q5T6C9
    • Q6ZTX4
    • Q96N10

    Protein attributes for FAM189A2 Gene

    Size:
    450 amino acids
    Molecular mass:
    49703 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA61301.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI15446.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM189A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM189A2 Gene

Proteomics data for FAM189A2 Gene at MOPED

Post-translational modifications for FAM189A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM189A2 Gene

No data available for DME Specific Peptides for FAM189A2 Gene

Domains & Families for FAM189A2 Gene

Protein Domains for FAM189A2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM189A2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15884

UniProtKB/Swiss-Prot:

F1892_HUMAN :
  • Belongs to the FAM189 family.
Family:
  • Belongs to the FAM189 family.
genes like me logo Genes that share domains with FAM189A2: view

No data available for Gene Families for FAM189A2 Gene

Function for FAM189A2 Gene

genes like me logo Genes that share phenotypes with FAM189A2: view

Animal Model Products

CRISPR Products

miRNA for FAM189A2 Gene

miRTarBase miRNAs that target FAM189A2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM189A2 Gene

Localization for FAM189A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM189A2 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM189A2 Gene COMPARTMENTS Subcellular localization image for FAM189A2 gene
Compartment Confidence
extracellular 2
plasma membrane 2
endoplasmic reticulum 1

No data available for Gene Ontology (GO) - Cellular Components for FAM189A2 Gene

Pathways & Interactions for FAM189A2 Gene

SuperPathways for FAM189A2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM189A2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM189A2 Gene

Drugs & Compounds for FAM189A2 Gene

No Compound Related Data Available

Transcripts for FAM189A2 Gene

Unigene Clusters for FAM189A2 Gene

Family with sequence similarity 189, member A2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FAM189A2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12
SP1: - - - -
SP2: - - - -
SP3: - - - - -
SP4: -
SP5: - -
SP6: - -
SP7:

Relevant External Links for FAM189A2 Gene

GeneLoc Exon Structure for
FAM189A2
ECgene alternative splicing isoforms for
FAM189A2

Expression for FAM189A2 Gene

mRNA expression in normal human tissues for FAM189A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM189A2 Gene

This gene is overexpressed in Thyroid (x6.3).

Protein differential expression in normal tissues from HIPED for FAM189A2 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FAM189A2 Gene



SOURCE GeneReport for Unigene cluster for FAM189A2 Gene Hs.118003

mRNA Expression by UniProt/SwissProt for FAM189A2 Gene

Q15884-F1892_HUMAN
Tissue specificity: Prominently expressed in muscle.
genes like me logo Genes that share expression patterns with FAM189A2: view

Protein tissue co-expression partners for FAM189A2 Gene

Primer Products

In Situ Assay Products

Orthologs for FAM189A2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM189A2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FAM189A2 35
  • 86.96 (n)
  • 88 (a)
FAM189A2 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM189A2 35
  • 84.52 (n)
  • 86 (a)
FAM189A2 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam189a2 35
  • 82.96 (n)
  • 86 (a)
Fam189a2 16
Fam189a2 36
  • 66 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FAM189A2 35
  • 99.56 (n)
  • 99.33 (a)
FAM189A2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam189a2 35
  • 83.7 (n)
  • 86.44 (a)
oppossum
(Monodelphis domestica)
Mammalia FAM189A2 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM189A2 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM189A2 35
  • 69.81 (n)
  • 72.81 (a)
FAM189A2 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM189A2 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam189a2 35
  • 66.92 (n)
  • 67.55 (a)
zebrafish
(Danio rerio)
Actinopterygii fam189a2 35
  • 59.16 (n)
  • 56.32 (a)
fam189a2 36
  • 36 (a)
OneToMany
fam189a2 36
  • 62 (a)
OneToMany
Species with no ortholog for FAM189A2:
  • 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 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 FAM189A2 Gene

ENSEMBL:
Gene Tree for FAM189A2 (if available)
TreeFam:
Gene Tree for FAM189A2 (if available)

Paralogs for FAM189A2 Gene

Paralogs for FAM189A2 Gene

(1) SIMAP similar genes for FAM189A2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with FAM189A2: view

Variants for FAM189A2 Gene

Sequence variations from dbSNP and Humsavar for FAM189A2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs35386391 - 69,384,020(+) AGTGA(C/T)TCAAG reference, missense
rs11138396 - 69,385,873(+) TATCA(A/G)AAGCC reference, missense
rs867365 -- 69,387,638(-) GTTAT(C/T)GATGC intron-variant
rs867366 -- 69,388,120(-) GGCCA(A/G)CCCCT intron-variant
rs1000069 -- 69,338,730(+) TTTCC(A/G)TGTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAM189A2 Gene

Variant ID Type Subtype PubMed ID
nsv831610 CNV Gain 17160897
nsv893428 CNV Gain 21882294
esv2738536 CNV Deletion 23290073
esv2738537 CNV Deletion 23290073
esv1110839 CNV Deletion 17803354
nsv415460 CNV Loss 16902084
dgv8247n71 CNV Gain 21882294
nsv893431 CNV Loss 21882294

Variation tolerance for FAM189A2 Gene

Residual Variation Intolerance Score: 81.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.31; 41.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM189A2 Gene

HapMap Linkage Disequilibrium report
FAM189A2
Human Gene Mutation Database (HGMD)
FAM189A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM189A2 Gene

Disorders for FAM189A2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM189A2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
friedreich ataxia
  • friedreich ataxia with retained reflexes
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FAM189A2

Genetic Association Database (GAD)
FAM189A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM189A2
genes like me logo Genes that share disorders with FAM189A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM189A2 Gene

Publications for FAM189A2 Gene

  1. The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb. (PMID: 7951235) Duclos F. … Koenig M. (Hum. Mol. Genet. 1994) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder. (PMID: 22925353) Lee H.J. … Kelsoe J.R. (J Affect Disord 2013) 3
  5. Next-generation sequencing to generate interactome datasets. (PMID: 21516116) Yu H. … Vidal M. (Nat. Methods 2011) 3

Products for FAM189A2 Gene

Sources for FAM189A2 Gene

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