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Aliases for FAM189B Gene

Aliases for FAM189B Gene

  • Family With Sequence Similarity 189 Member B 2 3 5
  • Family With Sequence Similarity 189, Member B 2 3
  • C1orf2 3 4
  • COTE1 3 4
  • Chromosome 1 Open Reading Frame 2 2
  • Protein COTE1 4

External Ids for FAM189B Gene

Previous HGNC Symbols for FAM189B Gene

  • C1orf2

Previous GeneCards Identifiers for FAM189B Gene

  • GC01M153484
  • GC01M155216
  • GC01M126579

Summaries for FAM189B Gene

Entrez Gene Summary for FAM189B Gene

  • This gene is located near the gene for the lysosomal enzyme glucosylceramidase; a deficiency in this enzyme is associated with Gaucher disease. The encoded protein has been identified as a potential binding partner of a WW domain-containing protein which is involved in apoptosis and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]

GeneCards Summary for FAM189B Gene

FAM189B (Family With Sequence Similarity 189 Member B) is a Protein Coding gene. Diseases associated with FAM189B include Gaucher's Disease. GO annotations related to this gene include WW domain binding. An important paralog of this gene is FAM189A2.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM189B Gene

Genomics for FAM189B Gene

Regulatory Elements for FAM189B Gene

Enhancers for FAM189B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FAM189B on UCSC Golden Path with GeneCards custom track

Promoters for FAM189B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAM189B on UCSC Golden Path with GeneCards custom track

Genomic Location for FAM189B Gene

155,247,205 bp from pter
155,255,483 bp from pter
8,279 bases
Minus strand

Genomic View for FAM189B Gene

Genes around FAM189B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM189B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM189B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM189B Gene

Proteins for FAM189B Gene

  • Protein details for FAM189B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein FAM189B
    Protein Accession:
    Secondary Accessions:
    • B1AVS5
    • Q8IXL3
    • Q9BR66

    Protein attributes for FAM189B Gene

    668 amino acids
    Molecular mass:
    71355 Da
    Quaternary structure:
    • May interact with WWOX.

    Alternative splice isoforms for FAM189B Gene


neXtProt entry for FAM189B Gene

Proteomics data for FAM189B Gene at MOPED

Post-translational modifications for FAM189B Gene

Other Protein References for FAM189B Gene

No data available for DME Specific Peptides for FAM189B Gene

Domains & Families for FAM189B Gene

Protein Domains for FAM189B Gene


Suggested Antigen Peptide Sequences for FAM189B Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the FAM189 family.
  • Belongs to the FAM189 family.
genes like me logo Genes that share domains with FAM189B: view

No data available for Gene Families for FAM189B Gene

Function for FAM189B Gene

Gene Ontology (GO) - Molecular Function for FAM189B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15064722
genes like me logo Genes that share ontologies with FAM189B: view

Phenotypes for FAM189B Gene

genes like me logo Genes that share phenotypes with FAM189B: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM189B Gene

Localization for FAM189B Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM189B Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for FAM189B Gene COMPARTMENTS Subcellular localization image for FAM189B gene
Compartment Confidence
plasma membrane 4
nucleus 2
lysosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for FAM189B Gene

Pathways & Interactions for FAM189B Gene

SuperPathways for FAM189B Gene

No Data Available

Interacting Proteins for FAM189B Gene

Gene Ontology (GO) - Biological Process for FAM189B Gene


No data available for Pathways by source and SIGNOR curated interactions for FAM189B Gene

Drugs & Compounds for FAM189B Gene

No Compound Related Data Available

Transcripts for FAM189B Gene

Unigene Clusters for FAM189B Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for FAM189B Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c
SP1: - -
SP2: - - - - - -
SP4: -
SP5: - -
SP6: -
SP7: - - - - - - - - - - - - - -
SP8: - - - -
SP9: -
SP10: - - - -
SP11: -

Relevant External Links for FAM189B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FAM189B Gene

mRNA expression in normal human tissues for FAM189B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

SOURCE GeneReport for Unigene cluster for FAM189B Gene Hs.348308

mRNA Expression by UniProt/SwissProt for FAM189B Gene

Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with FAM189B: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for FAM189B Gene

Orthologs for FAM189B Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM189B Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia FAM189B 35
  • 91.47 (n)
  • 95.66 (a)
FAM189B 36
  • 96 (a)
(Canis familiaris)
Mammalia FAM189B 35
  • 90.62 (n)
  • 94.61 (a)
FAM189B 36
  • 94 (a)
(Mus musculus)
Mammalia Fam189b 35
  • 88.62 (n)
  • 94.16 (a)
Fam189b 16
Fam189b 36
  • 93 (a)
(Pan troglodytes)
Mammalia FAM189B 35
  • 99.65 (n)
  • 99.85 (a)
FAM189B 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Fam189b 35
  • 87.97 (n)
  • 94.01 (a)
(Monodelphis domestica)
Mammalia FAM189B 36
  • 87 (a)
(Danio rerio)
Actinopterygii LOC101882768 35
  • 57.65 (n)
  • 53.06 (a)
Species with no ortholog for FAM189B:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAM189B Gene

Gene Tree for FAM189B (if available)
Gene Tree for FAM189B (if available)

Paralogs for FAM189B Gene

Paralogs for FAM189B Gene

(2) SIMAP similar genes for FAM189B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FAM189B: view

Variants for FAM189B Gene

Sequence variations from dbSNP and Humsavar for FAM189B Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_035684 A breast cancer sample
VAR_037876 -, -

Structural Variations from Database of Genomic Variants (DGV) for FAM189B Gene

Variant ID Type Subtype PubMed ID
dgv3n68 CNV Loss 17160897
dgv132e1 CNV Complex 17122850
nsv470741 CNV Loss 18288195
nsv872457 CNV Loss 21882294
esv28935 CNV Gain 19812545
nsv831636 CNV Loss 17160897
esv33869 CNV Loss 17666407

Variation tolerance for FAM189B Gene

Residual Variation Intolerance Score: 73.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.79; 66.82% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for FAM189B Gene

Disorders for FAM189B Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM189B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
gaucher's disease
  • lipoid histiocytosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FAM189B

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with FAM189B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM189B Gene

Publications for FAM189B Gene

  1. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. (PMID: 9331372) Winfield S.L. … Sidransky E. (Genome Res. 1997) 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. Upregulation of the putative oncogene COTE1 contributes to human hepatocarcinogenesis through modulation of WWOX signaling. (PMID: 24899407) Zhang H. … Li X. (Int. J. Oncol. 2014) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Ectopic overexpression of COTE1 promotes cellular invasion of hepatocellular carcinoma. (PMID: 23317259) Zhang H. … Li X.C. (Asian Pac. J. Cancer Prev. 2012) 3

Products for FAM189B Gene

Sources for FAM189B Gene