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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
  • Protein Simplet 3 4
  • Protein FAM53B 3 4
  • Family With Sequence Similarity 53, Member B 2
  • Simplet Homolog (Zebrafish) 2
  • Simplet Homolog 3
  • BA12J10.2 3
  • Smp 3
  • SMP 4

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. Diseases associated with FAM53B include Stargardt Disease. An important paralog of this gene is FAM53A.

UniProtKB/Swiss-Prot for FAM53B Gene

  • Acts as a regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) nuclear localization.

Additional gene information for FAM53B Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM53B Gene

Genomics for FAM53B Gene

GeneHancer (GH) Regulatory Elements for FAM53B Gene

Promoters and enhancers for FAM53B 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 FAM53B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM53B gene promoter:
  • Hlf
  • NF-1
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for FAM53B Gene

Genomic Locations for FAM53B Gene
chr10:124,619,292-124,744,378
(GRCh38/hg38)
Size:
125,087 bases
Orientation:
Minus strand
chr10:126,307,861-126,432,930
(GRCh37/hg19)
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:
    • Interacts with CTNNB1.
    SequenceCaution:
    • Sequence=BAA09489.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM53B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM53B Gene

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

Gene Families for FAM53B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM53B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM53B Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM53B (FA53B_HUMAN)

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

Function for FAM53B Gene

Molecular function for FAM53B Gene

UniProtKB/Swiss-Prot Function:
Acts as a regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) nuclear localization.

Phenotypes From GWAS Catalog for FAM53B Gene

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

Animal Models for FAM53B Gene

MGI Knock Outs for FAM53B:
  • Fam53b Fam53b<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for FAM53B - Now 50% OFF >
  • * FAM53B as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * FAM53B tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for 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 UniProtKB/Swiss-Prot for FAM53B Gene

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 FAM53B gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FAM53B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 25183871
genes like me logo Genes that share ontologies with FAM53B: view

Pathways & Interactions for FAM53B Gene

PathCards logo

SuperPathways for FAM53B Gene

No Data Available

Interacting Proteins for FAM53B Gene

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

Gene Ontology (GO) - Biological Process for FAM53B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006606 protein import into nucleus IBA 21873635
GO:0016055 Wnt signaling pathway IEA --
GO:0060828 regulation of canonical Wnt signaling pathway IMP 25183871
GO:0090263 positive regulation of canonical Wnt signaling pathway IMP 25183871
genes like me logo Genes that share ontologies with FAM53B: view

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

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(374) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for FAM53B Gene

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

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for FAM53B - Now 50% OFF >
  • * FAM53B as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * FAM53B tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for FAM53B Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM53B Gene:

FAM53B

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.

Evidence on tissue expression from TISSUES for FAM53B Gene

  • Nervous system(4.8)
  • Lung(4.5)
  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with FAM53B: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia FAM53B 35 34
  • 99.84 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM53B 34 35
  • 88.47 (n)
mouse
(Mus musculus)
Mammalia Fam53b 35 34 17
  • 85.79 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam53b 34
  • 85 (n)
cow
(Bos Taurus)
Mammalia FAM53B 35 34
  • 82.88 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM53B 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM53B 35 34
  • 72.77 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM53B 35
  • 69 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii fam53b 34 35
  • 54.84 (n)
wufj93e03 34
Species where no ortholog for FAM53B 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FAM53B: view image

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 Variation AA Info Type
rs1000002863 -- 124,693,545(-) G/C intron_variant
rs1000004500 -- 124,670,169(-) CC/C intron_variant
rs1000005709 -- 124,720,669(-) T/C intron_variant
rs1000014999 -- 124,735,620(-) C/T intron_variant
rs1000031808 -- 124,741,409(-) C/A intron_variant

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

Variant ID Type Subtype PubMed ID
esv1000820 CNV deletion 20482838
esv3579215 CNV loss 25503493
esv3584565 CNV gain 24956385
nsv1050837 CNV gain 25217958
nsv1051396 CNV loss 25217958
nsv1069087 CNV deletion 25765185
nsv1131007 CNV deletion 24896259
nsv467473 CNV loss 19166990
nsv470973 CNV loss 18288195
nsv478097 CNV novel sequence insertion 20440878
nsv521161 CNV gain+loss 19592680
nsv552288 CNV loss 21841781
nsv7589 CNV insertion 18451855
nsv825604 CNV gain 20364138
nsv832013 CNV loss 17160897
nsv832014 CNV loss 17160897

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)

Additional Variant Information for FAM53B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM53B

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

Disorders for FAM53B Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM53B Gene - From: DISEASES

Disorder Aliases PubMed IDs
stargardt disease
  • stargardt disease 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM53B

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

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

Publications for FAM53B Gene

  1. Simplet/Fam53b is required for Wnt signal transduction by regulating β-catenin nuclear localization. (PMID: 25183871) Kizil C … Antos CL (Development (Cambridge, England) 2014) 2 3 4 58
  2. Medaka simplet (FAM53B) belongs to a family of novel vertebrate genes controlling cell proliferation. (PMID: 16611694) Thermes V … Joly JS (Development (Cambridge, England) 2006) 2 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. 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 research : an international journal for rapid publication of reports on genes and genomes 1995) 3 4 58

Products for FAM53B Gene

Sources for FAM53B Gene

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