Aliases for FAM189A2 Gene

Aliases for FAM189A2 Gene

  • Family With Sequence Similarity 189 Member A2 2 3 5
  • Protein FAM189A2 3 4
  • C9orf61 3 4
  • X123 3 4
  • Family With Sequence Similarity 189, Member A2 2
  • Friedreich Ataxia Region Gene X123 3
  • Chromosome 9 Open Reading Frame 61 2
  • 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.

Additional gene information for FAM189A2 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM189A2 Gene

Genomics for FAM189A2 Gene

GeneHancer (GH) Regulatory Elements for FAM189A2 Gene

Promoters and enhancers for FAM189A2 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
GH09J069324 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 505.8 +1.2 1234 4 ZIC2 CLOCK ZNF423 ZBTB26 KLF4 CTBP1 ZNF341 POLR2A EZH2 SIN3A FAM189A2 RF00017-7610
GH09J069375 Promoter/Enhancer 0.7 EPDnew Ensembl dbSUPER 510.9 +50.8 50849 0.8 FAM189A2 ENSG00000229312 lnc-APBA1-5 HSALNG0071740
GH09J069378 Enhancer 0.9 Ensembl ENCODE dbSUPER 16.5 +56.0 56010 4.4 JUND NR2F2 FOS POLR2A PRDM1 PRDM6 TCF7L2 GATA2 SMARCA4 JUN FAM189A2 HSALNG0071740 lnc-APBA1-5
GH09J069413 Enhancer 1 FANTOM5 ENCODE CraniofacialAtlas 14.4 +88.1 88063 1.1 CTCF REST SKI SMC3 RAD21 SKIL SMAD4 ZNF654 JUND ZNF48 PRKACG FAM189A2 piR-37656-284 piR-39341-424
GH09J068777 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.4 -543.7 -543727 5.9 FOXK2 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 USF1 POLR2G SP1 PIP5K1B FAM122A FAM189A2 ENSG00000236998 LOC100421655 lnc-PRKACG-6 lnc-FAM122A-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM189A2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM189A2

Genomic Locations for FAM189A2 Gene

Genomic Locations for FAM189A2 Gene
67,992 bases
Plus strand
67,884 bases
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:
    Recommended name:
    Protein FAM189A2
    Protein Accession:
    Secondary Accessions:
    • Q14CN5
    • Q5T6C8
    • Q5T6C9
    • Q6ZTX4
    • Q96N10

    Protein attributes for FAM189A2 Gene

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

    Alternative splice isoforms for FAM189A2 Gene


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

Gene Families for FAM189A2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for FAM189A2 Gene


Suggested Antigen Peptide Sequences for FAM189A2 Gene

GenScript: Design optimal peptide antigens:
  • Protein X123 (F1892_HUMAN)

Graphical View of Domain Structure for InterPro Entry



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

Function for FAM189A2 Gene

Phenotypes From GWAS Catalog 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM189A2

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

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 1
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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FAM189A2 Gene

Pathways & Interactions for FAM189A2 Gene

PathCards logo

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

mRNA/cDNA for FAM189A2 Gene

9 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM189A2

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: - -

Relevant External Links for FAM189A2 Gene

GeneLoc Exon Structure for

Expression for FAM189A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM189A2

SOURCE GeneReport for Unigene cluster for FAM189A2 Gene:


mRNA Expression by UniProt/SwissProt for FAM189A2 Gene:

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

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
(Pan troglodytes)
Mammalia FAM189A2 31 30
  • 99.56 (n)
(Bos Taurus)
Mammalia FAM189A2 31 30
  • 86.96 (n)
(Canis familiaris)
Mammalia FAM189A2 31 30
  • 84.52 (n)
(Rattus norvegicus)
Mammalia Fam189a2 30
  • 83.7 (n)
(Mus musculus)
Mammalia Fam189a2 17 31 30
  • 82.96 (n)
(Ornithorhynchus anatinus)
Mammalia FAM189A2 31
  • 80 (a)
(Monodelphis domestica)
Mammalia FAM189A2 31
  • 61 (a)
(Gallus gallus)
Aves FAM189A2 31 30
  • 69.81 (n)
(Anolis carolinensis)
Reptilia FAM189A2 31
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fam189a2 30
  • 66.92 (n)
(Danio rerio)
Actinopterygii fam189a2 31 31 30
  • 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

Gene Tree for FAM189A2 (if available)
Gene Tree for FAM189A2 (if available)
Evolutionary constrained regions (ECRs) for FAM189A2: view image

Paralogs for FAM189A2 Gene

Paralogs for FAM189A2 Gene

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

  • F1892_HUMAN
genes like me logo Genes that share paralogs with FAM189A2: view

Variants for FAM189A2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM189A2 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
668253 Likely Benign: not provided 69,383,757(+) C/T NONSENSE
668412 Likely Benign: not provided 69,377,647(+) C/T MISSENSE_VARIANT
678698 Benign: not provided 69,391,687(+) C/T SYNONYMOUS_VARIANT
680428 Likely Benign: not provided 69,383,767(+) C/T INTRON_VARIANT
681158 Likely Benign: not provided 69,336,241(+) C/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for FAM189A2 Gene

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)

Additional Variant Information for FAM189A2 Gene

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

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
  • fa
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 (Human molecular genetics 1994) 2 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 54

Products for FAM189A2 Gene

Sources for FAM189A2 Gene