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Aliases for FAM189B Gene

Aliases for FAM189B Gene

  • Family With Sequence Similarity 189 Member B 2 3 5
  • C1orf2 3 4
  • COTE1 3 4
  • Family With Sequence Similarity 189, Member B 2
  • Chromosome 1 Open Reading Frame 2 2
  • Protein FAM189B 3
  • 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. Gene Ontology (GO) annotations related to this gene include WW domain binding. An important paralog of this gene is FAM189A1.

Additional gene information for FAM189B Gene

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

Genomics for FAM189B Gene

GeneHancer (GH) Regulatory Elements for FAM189B Gene

Promoters and enhancers for FAM189B 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
GH01I155253 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.1 138 3.6 HDGF ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 SP3 SP5 FAM189B GBA DPM3 CLK2 PAQR6 MUC1 SCAMP3
GH01I155307 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 23.1 -53.6 -53617 3.8 MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC MEF2D FDPS PKLR GON4L CLK2 KHDC4 ENSG00000271267 THBS3 RUSC1-AS1 GBA KRTCAP2
GH01I155561 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11 -307.7 -307718 4.4 HDGF PKNOX1 CLOCK SMAD1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ASH1L-AS1 ASH1L CLK2 GON4L KHDC4 THBS3 SSR2 ENSG00000271267 GLMP RUSC1-AS1
GH01I155206 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.8 +46.8 46796 4.5 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 THBS3 MTX1 FAM189B SCAMP3 TRIM46 KRTCAP2 LMNA DAP3 POU5F1P4 LOC105371450
GH01I155242 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 11.3 +11.2 11241 2.9 FEZF1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 GBA KHDC4 GON4L CLK2 ENSG00000271267 MSTO1 MSTO2P RUSC1-AS1 THBS3 SHC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM189B on UCSC Golden Path with GeneCards custom track

Genomic Locations for FAM189B Gene

Genomic Locations for FAM189B Gene
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

Post-translational modifications for FAM189B Gene

No data available for DME Specific Peptides for FAM189B Gene

Domains & Families for FAM189B Gene

Gene Families for FAM189B Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

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

Function for FAM189B Gene

Phenotypes From GWAS Catalog 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
GO:0050699 WW domain 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

Inhibitory RNA Products

Clone 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

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 FAM189B gene
Compartment Confidence
plasma membrane 4
nucleus 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FAM189B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FAM189B: view

Pathways & Interactions for FAM189B Gene

SuperPathways for FAM189B Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM189B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with FAM189B: view

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM189B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of FAM189B Gene:


SOURCE GeneReport for Unigene cluster for FAM189B Gene:


mRNA Expression by UniProt/SwissProt for FAM189B Gene:

Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for FAM189B Gene

  • Nervous system(4.5)
  • Liver(4.3)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with FAM189B: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia FAM189B 33 34
  • 99.65 (n)
(Bos Taurus)
Mammalia FAM189B 33 34
  • 91.47 (n)
(Canis familiaris)
Mammalia FAM189B 33 34
  • 90.62 (n)
(Mus musculus)
Mammalia Fam189b 33 16 34
  • 88.62 (n)
(Rattus norvegicus)
Mammalia Fam189b 33
  • 87.97 (n)
(Monodelphis domestica)
Mammalia FAM189B 34
  • 87 (a)
(Danio rerio)
Actinopterygii LOC101882768 33
  • 57.65 (n)
Species where no ortholog for FAM189B 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)
  • 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 Variation AA Info Type
VAR_035684 A breast cancer sample p.Ser358Phe
rs1000434190 -- 155,250,699(-) G/A coding_sequence_variant, missense_variant
rs1000466806 -- 155,250,371(-) G/A/T coding_sequence_variant, missense_variant
rs1000646418 -- 155,255,256(-) G/A 5_prime_UTR_variant
rs1000765780 -- 155,249,515(-) G/A/T intron_variant

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

Variant ID Type Subtype PubMed ID
dgv3n68 CNV loss 17160897
esv2758971 CNV gain 17122850
esv28935 CNV gain 19812545
esv33869 CNV loss 17666407
nsv1008748 CNV loss 25217958
nsv1011773 CNV gain 25217958
nsv470741 CNV loss 18288195
nsv831636 CNV loss 17160897

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)

Additional Variant Information for FAM189B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM189B Gene

Disorders for FAM189B Gene

Additional Disease Information for FAM189B

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for FAM189B Gene.

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

Publications for FAM189B Gene

  1. WWOX binds the specific proline-rich ligand PPXY: identification of candidate interacting proteins. (PMID: 15064722) Ludes-Meyers JH … Aldaz CM (Oncogene 2004) 2 3 4 58
  2. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. (PMID: 9331372) Winfield SL … Sidransky E (Genome research 1997) 2 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 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 FAM189B Gene

Sources for FAM189B Gene

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