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Aliases for FAM53B Gene

Aliases for FAM53B Gene

  • Family With Sequence Similarity 53 Member B 2 3 5
  • KIAA0140 2 3 4
  • Family With Sequence Similarity 53, Member B 2 3
  • Simplet Homolog (Zebrafish) 2
  • Simplet Homolog 3
  • BA12J10.2 3
  • Smp 3

External Ids for FAM53B Gene

Previous HGNC Symbols for FAM53B Gene

  • KIAA0140

Previous GeneCards Identifiers for FAM53B Gene

  • GC10M126296
  • GC10M119994

Summaries for FAM53B Gene

GeneCards Summary for FAM53B Gene

FAM53B (Family With Sequence Similarity 53 Member B) is a Protein Coding gene. An important paralog of this gene is FAM53A.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM53B Gene

Genomics for FAM53B Gene

Regulatory Elements for FAM53B Gene

Enhancers for FAM53B 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 FAM53B on UCSC Golden Path with GeneCards custom track

Promoters for FAM53B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAM53B on UCSC Golden Path with GeneCards custom track

Genomic Location for FAM53B Gene

Chromosome:
10
Start:
124,619,292 bp from pter
End:
124,744,361 bp from pter
Size:
125,070 bases
Orientation:
Minus strand

Genomic View for FAM53B Gene

Genes around FAM53B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM53B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM53B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM53B Gene

Proteins for FAM53B Gene

  • Protein details for FAM53B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14153-FA53B_HUMAN
    Recommended name:
    Protein FAM53B
    Protein Accession:
    Q14153
    Secondary Accessions:
    • D3DRF1
    • Q5VUW1
    • Q5VUW2
    • Q8N5S6

    Protein attributes for FAM53B Gene

    Size:
    422 amino acids
    Molecular mass:
    45768 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA09489.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM53B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM53B Gene

Proteomics data for FAM53B Gene at MOPED

Post-translational modifications for FAM53B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM53B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM53B Gene

Domains & Families for FAM53B Gene

Protein Domains for FAM53B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM53B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14153

UniProtKB/Swiss-Prot:

FA53B_HUMAN :
  • Belongs to the FAM53 family.
Family:
  • Belongs to the FAM53 family.
genes like me logo Genes that share domains with FAM53B: view

No data available for Gene Families for FAM53B Gene

Function for FAM53B Gene

Phenotypes for FAM53B Gene

genes like me logo Genes that share phenotypes with FAM53B: view

Animal Models for FAM53B Gene

MGI Knock Outs for FAM53B:

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FAM53B Gene

Localization for FAM53B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM53B Gene COMPARTMENTS Subcellular localization image for FAM53B gene
Compartment Confidence
nucleus 3
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM53B Gene

Pathways & Interactions for FAM53B Gene

SuperPathways for FAM53B Gene

No Data Available

Interacting Proteins for FAM53B Gene

Selected Interacting proteins: Q14153-FA53B_HUMAN for FAM53B Gene via MINT I2D

Symbol External ID(s) Details
SFN

Gene Ontology (GO) - Biological Process for FAM53B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM53B Gene

Drugs & Compounds for FAM53B Gene

No Compound Related Data Available

Transcripts for FAM53B Gene

mRNA/cDNA for FAM53B Gene

Unigene Clusters for FAM53B Gene

Family with sequence similarity 53, member B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FAM53B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a ·
SP1: - - - - - - - - - - -
SP2: - -
SP3: - -
SP4: -
SP5: - - - - -
SP6: - -
SP7: - - -
SP8: - - -
SP9: -
SP10:
SP11:
SP12: - - - -
SP13: - - - -
SP14: - -

ExUns: 15b · 15c ^ 16 ^ 17 ^ 18
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9: -
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for FAM53B Gene

GeneLoc Exon Structure for
FAM53B
ECgene alternative splicing isoforms for
FAM53B

Expression for FAM53B Gene

mRNA expression in normal human tissues for FAM53B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAM53B Gene

This gene is overexpressed in Blymphocyte (45.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM53B Gene



SOURCE GeneReport for Unigene cluster for FAM53B Gene Hs.129195

mRNA Expression by UniProt/SwissProt for FAM53B Gene

Q14153-FA53B_HUMAN
Tissue specificity: Detected in skeletal muscle, kidney, spleen, thyroid, testis, ovary, small intestine, colon and peripheral blood.
genes like me logo Genes that share expression patterns with FAM53B: view

Protein tissue co-expression partners for FAM53B Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for FAM53B Gene

Orthologs for FAM53B Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM53B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FAM53B 35
  • 82.88 (n)
  • 81.39 (a)
FAM53B 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM53B 35
  • 88.47 (n)
  • 87.44 (a)
FAM53B 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam53b 35
  • 85.79 (n)
  • 85.95 (a)
Fam53b 16
Fam53b 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FAM53B 35
  • 99.84 (n)
  • 100 (a)
FAM53B 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam53b 35
  • 85 (n)
  • 85.24 (a)
oppossum
(Monodelphis domestica)
Mammalia FAM53B 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM53B 35
  • 72.77 (n)
  • 69.07 (a)
FAM53B 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM53B 36
  • 69 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii fam53b 35
  • 54.84 (n)
  • 48.88 (a)
wufj93e03 35
fam53b 36
  • 41 (a)
OneToOne
Species with no ortholog for FAM53B:
  • 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)
  • 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 FAM53B Gene

ENSEMBL:
Gene Tree for FAM53B (if available)
TreeFam:
Gene Tree for FAM53B (if available)

Paralogs for FAM53B Gene

Paralogs for FAM53B Gene

genes like me logo Genes that share paralogs with FAM53B: view

Variants for FAM53B Gene

Sequence variations from dbSNP and Humsavar for FAM53B Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1470996 -- 124,642,986(+) CCTGA(C/T)GGTAT intron-variant
rs1545910 -- 124,739,576(-) ATGTT(C/G)GTAAA intron-variant
rs1563273 -- 124,657,780(+) TTCAC(C/T)TAACT intron-variant
rs1823925 -- 124,677,163(+) TCACA(C/T)ACACG intron-variant
rs3084444 -- 124,653,215(+) GGAGA(-/GA)AGCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAM53B Gene

Variant ID Type Subtype PubMed ID
dgv833n71 CNV Loss 21882294
nsv521161 CNV Gain+Loss 19592680
nsv832013 CNV Loss 17160897
dgv835n71 CNV Loss 21882294
nsv7589 CNV Insertion 18451855
nsv467473 CNV Loss 19166990
nsv896077 CNV Loss 21882294
nsv470973 CNV Loss 18288195
esv2742739 CNV Deletion 23290073
nsv832014 CNV Loss 17160897
esv1000820 CNV Deletion 20482838
nsv825604 CNV Gain 20364138

Variation tolerance for FAM53B Gene

Residual Variation Intolerance Score: 71.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.06; 21.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM53B Gene

HapMap Linkage Disequilibrium report
FAM53B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM53B Gene

Disorders for FAM53B Gene

Relevant External Links for FAM53B

Genetic Association Database (GAD)
FAM53B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM53B

No disorders were found for FAM53B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM53B Gene

Publications for FAM53B Gene

  1. Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8590280) Nagase T. … Nomura N. (DNA Res. 1995) 2 3 4 67
  2. Medaka simplet (FAM53B) belongs to a family of novel vertebrate genes controlling cell proliferation. (PMID: 16611694) Thermes V. … Joly J.S. (Development 2006) 2 3
  3. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3
  4. Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene. (PMID: 23958962) Gelernter J. … Farrer L. (Mol. Psychiatry 2013) 3
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3

Products for FAM53B Gene

Sources for FAM53B Gene

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