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Aliases for FAM189A2 Gene

Aliases for FAM189A2 Gene

  • Family With Sequence Similarity 189 Member A2 2 3 5
  • C9orf61 3 4
  • X123 3 4
  • Family With Sequence Similarity 189, Member A2 2
  • Chromosome 9 Open Reading Frame 61 2
  • Friedreich Ataxia Region Gene X123 3
  • Protein FAM189A2 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 Deafness And Hereditary Hearing Loss and Friedreich Ataxia. An important paralog of this gene is FAM189A1.

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 FAM189A2 Gene

Genomics for FAM189A2 Gene

Regulatory Elements for FAM189A2 Gene

Enhancers for FAM189A2 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
GH09G069378 1.1 Ensembl ENCODE dbSUPER 16.5 +55.7 55674 3.8 JUN NR2F2 JUND PRDM6 POLR2A SMARCA4 GATA2 FOS PRDM1 TCF7L2 FAM189A2 LOC105376074
GH09G069296 1.1 ENCODE 11.3 -28.1 -28070 0.8 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF143 SMC5 FAM189A2 PTAR1 MAMDC2 FAM122A BANCR GC09P069244
GH09G069376 1.1 Ensembl ENCODE dbSUPER 10.9 +52.1 52130 1.0 JUN BHLHE40 ATF2 ZFHX2 JUND GATA3 PRDM10 FOS EGR2 ENSG00000229312 FAM189A2 LOC105376074
GH09G069370 0.6 ENCODE 16.5 +46.1 46068 0.3 CTCF ZFP64 POU5F1 RAD21 ZBTB20 TEAD3 FAM189A2 ENSG00000229312 LOC105376074
GH09G069357 0.7 FANTOM5 dbSUPER 12.6 +33.3 33252 0.0 PKNOX1 FAM189A2 LOC105376074
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM189A2 on UCSC Golden Path with GeneCards custom track

Promoters for FAM189A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000235583 828 1200 ZSCAN4 SIN3A ZNF76 GLIS2 SCRT2 EGR2 ZNF263 SP3 ZNF579 CBX8

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

Post-translational modifications for FAM189A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Gene Ontology (GO) - Molecular Function for FAM189A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with FAM189A2: view
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

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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
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 FAM189A2 gene
Compartment Confidence
plasma membrane 2
extracellular 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for FAM189A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FAM189A2: view

Pathways & Interactions for FAM189A2 Gene

SuperPathways for FAM189A2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM189A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with FAM189A2: view

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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for FAM189A2 Gene



Protein tissue co-expression partners for FAM189A2 Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM189A2 Gene:

FAM189A2

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.

Evidence on tissue expression from TISSUES for FAM189A2 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with FAM189A2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM189A2 Gene

Orthologs for FAM189A2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM189A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM189A2 34 35
  • 99.56 (n)
cow
(Bos Taurus)
Mammalia FAM189A2 34 35
  • 86.96 (n)
dog
(Canis familiaris)
Mammalia FAM189A2 34 35
  • 84.52 (n)
rat
(Rattus norvegicus)
Mammalia Fam189a2 34
  • 83.7 (n)
mouse
(Mus musculus)
Mammalia Fam189a2 34 16 35
  • 82.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM189A2 35
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM189A2 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM189A2 34 35
  • 69.81 (n)
lizard
(Anolis carolinensis)
Reptilia FAM189A2 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam189a2 34
  • 66.92 (n)
zebrafish
(Danio rerio)
Actinopterygii fam189a2 34 35 35
  • 59.16 (n)
Species where no ortholog for FAM189A2 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 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
rs193921010 Uncertain significance 69,385,788(+) TTTTT(-/A)AATCA intron-variant
rs1000064870 -- 69,366,747(+) TTTCT(A/T)CTGAA intron-variant
rs1000069 -- 69,338,730(+) TTTCC(A/G)TGTAT intron-variant
rs1000090609 -- 69,369,475(+) TTCTC(C/T)ACATC intron-variant
rs1000129981 -- 69,325,926(+) GTCTG(C/T)TGCGC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv7665n100 CNV gain 25217958
dgv7668n100 CNV gain 25217958
esv1110839 CNV deletion 17803354
esv2738536 CNV deletion 23290073
esv2738537 CNV deletion 23290073
esv3573245 CNV loss 25503493
esv3620557 OTHER inversion 21293372
nsv1130891 CNV deletion 24896259
nsv1137466 CNV deletion 24896259
nsv415460 CNV deletion 16902084
nsv476832 CNV novel sequence insertion 20440878
nsv831610 CNV gain 17160897
nsv951524 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
FAM189A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM189A2

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

Disorders for FAM189A2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
deafness and hereditary hearing loss
  • hereditary hearing loss and deafness
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 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for FAM189A2 Gene

Sources for FAM189A2 Gene

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