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 Re... See more...

Aliases for FAM189B Gene

Aliases for FAM189B Gene

  • Family With Sequence Similarity 189 Member B 2 3 5
  • Protein FAM189B 3 4
  • C1orf2 3 4
  • COTE1 3 4
  • Family With Sequence Similarity 189, Member B 2
  • Chromosome 1 Open Reading Frame 2 2
  • Protein COTE1 4
  • FAM189B 5
  • Cote1 2

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 and Cerebral Lymphoma. 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM189B Gene

Genomics for FAM189B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAM189B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM189B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM189B

Genomic Locations for FAM189B Gene

Genomic Locations for FAM189B Gene
chr1:155,247,205-155,255,892
(GRCh38/hg38)
Size:
8,688 bases
Orientation:
Minus strand
chr1:155,216,996-155,225,274
(GRCh37/hg19)
Size:
8,279 bases
Orientation:
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:
    P81408-F189B_HUMAN
    Recommended name:
    Protein FAM189B
    Protein Accession:
    P81408
    Secondary Accessions:
    • B1AVS5
    • Q8IXL3
    • Q9BR66

    Protein attributes for FAM189B Gene

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

    Alternative splice isoforms for FAM189B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM189B Gene

Post-translational modifications for FAM189B Gene

  • Glycosylation at Asn160
  • Ubiquitination at Lys579
  • Modification sites at PhosphoSitePlus

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM189B Gene

GenScript: Design optimal peptide antigens:
  • Chromosome 1 open reading frame 2 (B1AVS2_HUMAN)
  • Protein COTE1 (F189B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P81408

UniProtKB/Swiss-Prot:

F189B_HUMAN :
  • Belongs to the FAM189 family.
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
genes like me logo Genes that share phenotypes with FAM189B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM189B

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

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 FAM189B gene
Compartment Confidence
plasma membrane 3
nucleus 2
mitochondrion 1
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

PathCards logo

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

mRNA/cDNA for FAM189B Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
10 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 FAM189B

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: - - - - - -
SP3:
SP4: -
SP5: - -
SP6: -
SP7: - - - - - - - - - - - - - -
SP8: - - - -
SP9: -
SP10: - - - -
SP11: -

Relevant External Links for FAM189B Gene

GeneLoc Exon Structure for
FAM189B

Expression for FAM189B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM189B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM189B

SOURCE GeneReport for Unigene cluster for FAM189B Gene:

Hs.348308

mRNA Expression by UniProt/SwissProt for FAM189B Gene:

P81408-F189B_HUMAN
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
Chimpanzee
(Pan troglodytes)
Mammalia FAM189B 30 31
  • 99.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FAM189B 30 31
  • 91.47 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM189B 30 31
  • 90.62 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fam189b 30 17 31
  • 88.62 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fam189b 30
  • 87.97 (n)
Oppossum
(Monodelphis domestica)
Mammalia FAM189B 31
  • 87 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii LOC101882768 30
  • 57.65 (n)
Species where no ortholog for FAM189B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for FAM189B (if available)
TreeFam:
Gene Tree for FAM189B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM189B: view image

Paralogs for FAM189B Gene

Paralogs for FAM189B Gene

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

  • F189B_HUMAN
  • D6RD59_HUMAN
genes like me logo Genes that share paralogs with FAM189B: view

Variants for FAM189B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM189B Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs2072648 -. - p.Arg549Hisp.Arg646His
VAR_035684 A breast cancer sample p.Ser358Phe

Additional dbSNP identifiers (rs#s) for FAM189B Gene

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
FAM189B

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

Disorders for FAM189B Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
gaucher's disease
  • glucocerebrosidase deficiency
cerebral lymphoma
  • brain primary lymphoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM189B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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. 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
  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
  3. LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling. (PMID: 31073040) Choi JH … Beutler B (Science (New York, N.Y.) 2019) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3

Products for FAM189B Gene

Sources for FAM189B Gene