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Aliases for RTBDN Gene

Aliases for RTBDN Gene

External Ids for RTBDN Gene

Previous GeneCards Identifiers for RTBDN Gene

  • GC19M013067
  • GC19M013159
  • GC19M012781
  • GC19M012936
  • GC19M012507

Summaries for RTBDN Gene

Entrez Gene Summary for RTBDN Gene

  • This gene was first identified in a study of human eye tissues. The protein encoded by this gene is preferentially expressed in the retina and may play a role in binding retinoids and other carotenoids as it shares homology with riboflavin binding proteins. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]

GeneCards Summary for RTBDN Gene

RTBDN (Retbindin) is a Protein Coding gene.

UniProtKB/Swiss-Prot for RTBDN Gene

  • Riboflavin-binding protein which might have a role in retinal flavin transport.

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

Genomics for RTBDN Gene

Regulatory Elements for RTBDN Gene

Enhancers for RTBDN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G012880 2 FANTOM5 Ensembl ENCODE dbSUPER 12.2 -45.3 -45295 6.1 CREB3L1 MLX AGO1 ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 ZNF136 ZNF791 DNASE2 ZNF44 ZNF844 ZNF442 TRMT1 ZNF700 CCDC130 WDR83OS
GH19G012781 1.9 FANTOM5 ENCODE dbSUPER 12.2 +49.0 48970 16.0 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 ZNF136 ZNF844 CCDC130 ZNF564 ZNF442 ZNF625 MRI1 ZNF44 C19orf43 WDR83OS
GH19G012609 1.8 FANTOM5 Ensembl ENCODE 12 +225.9 225907 4.8 CREB3L1 MLX ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 ZNF136 ZNF700 ZNF564 C19orf43 WDR83OS ZNF799 ZNF44 HNRNPA1P10 ZNF791 JUNB
GH19G013632 1.5 Ensembl ENCODE dbSUPER 12 -795.0 -794980 1.7 PKNOX1 ZFP64 ZNF133 FEZF1 ZNF48 GLIS2 KLF7 YY2 NFYC REST CCDC130 SNRPGP15 MRI1 RPS6P25 WDR83OS RTBDN SYCE2 MAST1 TRMT1 C19orf43
GH19G012757 1.5 Ensembl ENCODE dbSUPER 11.9 +80.3 80347 1.2 FOXA2 PKNOX1 AGO1 ARID4B SIN3A ZNF2 ZNF48 GLIS2 ZNF143 KLF13 JUNB HOOK2 ASNA1 C19orf43 TNPO2 MAST1 RNASEH2A RTBDN WDR83OS MAN2B1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RTBDN on UCSC Golden Path with GeneCards custom track

Promoters for RTBDN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000107318 -233 201 RB1 EGR1 ZNF143 CREM ZNF398 REST SMARCB1 ZBTB26 MYC RBFOX2
ENSR00000107316 1528 201 HDAC1 ZNF263 MAZ PHF8 RB1 YY2 NFXL1 RBBP5 ZNF398 ZIC2

Genomic Location for RTBDN Gene

Chromosome:
19
Start:
12,825,477 bp from pter
End:
12,838,267 bp from pter
Size:
12,791 bases
Orientation:
Minus strand

Genomic View for RTBDN Gene

Genes around RTBDN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RTBDN Gene

Proteins for RTBDN Gene

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

    Protein Symbol:
    Q9BSG5-RTBDN_HUMAN
    Recommended name:
    Retbindin
    Protein Accession:
    Q9BSG5
    Secondary Accessions:
    • F1T0I8
    • Q9BWT5

    Protein attributes for RTBDN Gene

    Size:
    229 amino acids
    Molecular mass:
    24615 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RTBDN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RTBDN Gene

Post-translational modifications for RTBDN Gene

No data available for DME Specific Peptides for RTBDN Gene

Domains & Families for RTBDN Gene

Protein Domains for RTBDN Gene

Suggested Antigen Peptide Sequences for RTBDN Gene

Graphical View of Domain Structure for InterPro Entry

Q9BSG5

UniProtKB/Swiss-Prot:

RTBDN_HUMAN :
  • Belongs to the folate receptor family.
Family:
  • Belongs to the folate receptor family.
genes like me logo Genes that share domains with RTBDN: view

No data available for Gene Families for RTBDN Gene

Function for RTBDN Gene

Molecular function for RTBDN Gene

UniProtKB/Swiss-Prot Function:
Riboflavin-binding protein which might have a role in retinal flavin transport.

Gene Ontology (GO) - Molecular Function for RTBDN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:1902444 riboflavin binding IEA --
genes like me logo Genes that share ontologies with RTBDN: view
genes like me logo Genes that share phenotypes with RTBDN: view

Animal Models for RTBDN Gene

MGI Knock Outs for RTBDN:

Animal Model Products

  • Taconic Biosciences Mouse Models for RTBDN

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RTBDN Gene

Localization for RTBDN Gene

Subcellular locations from UniProtKB/Swiss-Prot for RTBDN Gene

Secreted, extracellular space, extracellular matrix, interphotoreceptor matrix. Cell membrane; Peripheral 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 RTBDN gene
Compartment Confidence
plasma membrane 3
extracellular 3
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for RTBDN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0019897 extrinsic component of plasma membrane IEA --
GO:0033165 interphotoreceptor matrix IEA --
genes like me logo Genes that share ontologies with RTBDN: view

Pathways & Interactions for RTBDN Gene

SuperPathways for RTBDN Gene

No Data Available

Gene Ontology (GO) - Biological Process for RTBDN Gene

None

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

Transcripts for RTBDN Gene

Unigene Clusters for RTBDN Gene

Retbindin:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

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

Relevant External Links for RTBDN Gene

GeneLoc Exon Structure for
RTBDN
ECgene alternative splicing isoforms for
RTBDN

Expression for RTBDN Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RTBDN Gene

This gene is overexpressed in Pituitary (x11.1), Brain - Amygdala (x6.2), Brain - Frontal Cortex (BA9) (x5.9), Brain - Cortex (x5.9), Brain - Anterior cingulate cortex (BA24) (x5.7), and Brain - Hippocampus (x4.6).

Protein differential expression in normal tissues from HIPED for RTBDN Gene

This gene is overexpressed in Vitreous humor (66.1).

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



Protein tissue co-expression partners for RTBDN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RTBDN Gene:

RTBDN

SOURCE GeneReport for Unigene cluster for RTBDN Gene:

Hs.21162

mRNA Expression by UniProt/SwissProt for RTBDN Gene:

Q9BSG5-RTBDN_HUMAN
Tissue specificity: Expressed in peripheral retina (at protein level).

Evidence on tissue expression from TISSUES for RTBDN Gene

  • Eye(4.6)
  • Muscle(2.6)
  • Heart(2.5)
  • Kidney(2.3)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with RTBDN: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RTBDN Gene

Orthologs for RTBDN Gene

This gene was present in the common ancestor of mammals.

Orthologs for RTBDN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RTBDN 34 35
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia RTBDN 34 35
  • 79.05 (n)
cow
(Bos Taurus)
Mammalia RTBDN 34 35
  • 76.62 (n)
rat
(Rattus norvegicus)
Mammalia Rtbdn 34
  • 73.77 (n)
mouse
(Mus musculus)
Mammalia Rtbdn 34 16 35
  • 73.03 (n)
Species where no ortholog for RTBDN 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)
  • oppossum (Monodelphis domestica)
  • 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)
  • zebrafish (Danio rerio)

Evolution for RTBDN Gene

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

Paralogs for RTBDN Gene

No data available for Paralogs for RTBDN Gene

Variants for RTBDN Gene

Sequence variations from dbSNP and Humsavar for RTBDN Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000163967 -- 12,837,150(+) CATTT(A/T)TATTT intron-variant, upstream-variant-2KB
rs1000568610 -- 12,830,590(+) CCCGC(C/T)TCCCC intron-variant, upstream-variant-2KB
rs1000667526 -- 12,830,941(+) GTGGC(-/TG)TGTGT intron-variant, upstream-variant-2KB
rs1001122229 -- 12,831,213(+) GACCA(A/T)GAAGG intron-variant, upstream-variant-2KB
rs1001158221 -- 12,837,125(+) ACTAT(A/G)CGGCC intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv2420 CNV insertion 18451855
nsv953977 CNV deletion 24416366

Variation tolerance for RTBDN Gene

Residual Variation Intolerance Score: 72.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.35; 53.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RTBDN Gene

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

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

Disorders for RTBDN Gene

Relevant External Links for RTBDN

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

No disorders were found for RTBDN Gene.

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

Publications for RTBDN Gene

  1. Expressed sequence tag analysis of human retina for the NEIBank project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts. (PMID: 12107411) Wistow G. … Peterson K. (Mol. Vis. 2002) 2 3 4 64
  2. Retbindin is an extracellular riboflavin-binding protein found at the photoreceptor/retinal pigment epithelium interface. (PMID: 25542898) Kelley R.A. … Naash M.I. (J. Biol. Chem. 2015) 3 4 64
  3. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PMID: 21697133) Oshikawa M. … Kato S. (Invest. Ophthalmol. Vis. Sci. 2011) 3 4 64
  4. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. (PMID: 19862010) Ganesh S.K. … Lin J.P. (Nat. Genet. 2009) 3 46 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for RTBDN Gene

Sources for RTBDN Gene

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