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Aliases for RFLNB Gene

Aliases for RFLNB Gene

  • Refilin B 2 3 5
  • Family With Sequence Similarity 101, Member B 2 3
  • Regulator Of Filamin Protein B 3 4
  • RefilinB 3 4
  • Filamin-Interacting Protein FAM101B 3
  • Protein FAM101B 3
  • Refilin-B 3
  • FAM101B 3
  • CFM1 3

External Ids for RFLNB Gene

Previous HGNC Symbols for RFLNB Gene

  • FAM101B

Summaries for RFLNB Gene

GeneCards Summary for RFLNB Gene

RFLNB (Refilin B) is a Protein Coding gene. An important paralog of this gene is RFLNA.

UniProtKB/Swiss-Prot for RFLNB Gene

  • Involved in the regulation of the perinuclear actin network and nuclear shape through interaction with filamins. Plays an essential role in the formation of cartilaginous skeletal elements.

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

Genomics for RFLNB Gene

Regulatory Elements for RFLNB Gene

Enhancers for RFLNB 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
GH17G000599 1.6 FANTOM5 Ensembl ENCODE 17.5 -156.1 -156072 4.1 PKNOX1 ATF1 ARNT TCF12 ZNF766 ELK1 GATA2 ZNF207 ZNF263 NCOA1 VPS53 RFLNB LOC105371430 C17orf97 FAM57A GEMIN4 GC17P000599 GC17M000605
GH17G000518 1.6 FANTOM5 Ensembl ENCODE dbSUPER 16.7 -74.2 -74189 3.7 SOX13 SAP130 ZFP64 ARID4B DMAP1 THRB RARA GATA2 FOS EGR2 VPS53 RFLNB C17orf97 ENSG00000263015 ENSG00000263300 GC17P000518
GH17G000533 1.1 Ensembl ENCODE dbSUPER 23.4 -88.9 -88941 2.6 FOXA2 MAX CEBPB CEBPG RAD21 NR2F2 SMARCA4 CEBPA MYC WT1 VPS53 RFLNB ENSG00000263015 GC17M000536 GC17P000528
GH17G000381 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.5 +62.6 62616 3.0 ELF3 MLX ZNF473 ZSCAN4 BMI1 THRB RAD21 YY1 RARA TCF12 C17orf97 DOC2B RFLNB RPH3AL GC17M000276
GH17G000689 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -247.1 -247063 7.2 KLF17 SIN3A RFX5 TCF12 GLIS2 EGR1 GATA2 SCRT2 RCOR1 FOS VPS53 FAM57A C17orf97 RFLNB DOC2B TIMM22 GEMIN4 ENSG00000263015 GC17M000676 GC17P000714
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RFLNB on UCSC Golden Path with GeneCards custom track

Genomic Location for RFLNB Gene

Chromosome:
17
Start:
439,978 bp from pter
End:
445,940 bp from pter
Size:
5,963 bases
Orientation:
Minus strand

Genomic View for RFLNB Gene

Genes around RFLNB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RFLNB Gene

Proteins for RFLNB Gene

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

    Protein Symbol:
    Q8N5W9-RFLB_HUMAN
    Recommended name:
    Refilin-B
    Protein Accession:
    Q8N5W9

    Protein attributes for RFLNB Gene

    Size:
    214 amino acids
    Molecular mass:
    22882 Da
    Quaternary structure:
    • Interacts with FLNA and FLNB.

neXtProt entry for RFLNB Gene

Post-translational modifications for RFLNB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RFLNB Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RFLNB Gene

Domains & Families for RFLNB Gene

Protein Domains for RFLNB Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RFLNB Gene

Graphical View of Domain Structure for InterPro Entry

Q8N5W9

UniProtKB/Swiss-Prot:

RFLB_HUMAN :
  • Belongs to the Refilin family.
Family:
  • Belongs to the Refilin family.
genes like me logo Genes that share domains with RFLNB: view

No data available for Gene Families for RFLNB Gene

Function for RFLNB Gene

Molecular function for RFLNB Gene

UniProtKB/Swiss-Prot Function:
Involved in the regulation of the perinuclear actin network and nuclear shape through interaction with filamins. Plays an essential role in the formation of cartilaginous skeletal elements.

Gene Ontology (GO) - Molecular Function for RFLNB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031005 filamin binding IDA 21709252
genes like me logo Genes that share ontologies with RFLNB: view
genes like me logo Genes that share phenotypes with RFLNB: view

Animal Models for RFLNB Gene

MGI Knock Outs for RFLNB:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Localization for RFLNB Gene

Subcellular locations from UniProtKB/Swiss-Prot for RFLNB Gene

Cytoplasm, cytoskeleton. Note=Colocalizes with FLNA along actin bundle-like structures. {ECO:0000250 UniProtKB:Q5SVD0}.

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 RFLNB gene
Compartment Confidence
cytoskeleton 3
plasma membrane 2
extracellular 2
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for RFLNB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0015629 actin cytoskeleton IEA --
GO:0032432 actin filament bundle IEA --
genes like me logo Genes that share ontologies with RFLNB: view

Pathways & Interactions for RFLNB Gene

SuperPathways for RFLNB Gene

No Data Available

Interacting Proteins for RFLNB Gene

Gene Ontology (GO) - Biological Process for RFLNB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001837 epithelial to mesenchymal transition IEA --
GO:0030036 actin cytoskeleton organization IEA --
GO:0048705 skeletal system morphogenesis IEA --
GO:0061182 negative regulation of chondrocyte development IEA --
GO:0061572 actin filament bundle organization IEA --
genes like me logo Genes that share ontologies with RFLNB: view

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

Drugs & Compounds for RFLNB Gene

No Compound Related Data Available

Transcripts for RFLNB Gene

mRNA/cDNA for RFLNB Gene

(1) REFSEQ mRNAs :
(126) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for RFLNB Gene

GeneLoc Exon Structure for
RFLNB
ECgene alternative splicing isoforms for
RFLNB

Expression for RFLNB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of RFLNB Gene:

RFLNB

Evidence on tissue expression from TISSUES for RFLNB Gene

  • Liver(4.1)
  • Pancreas(4)
genes like me logo Genes that share expression patterns with RFLNB: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RFLNB Gene

Orthologs for RFLNB Gene

This gene was present in the common ancestor of chordates.

Orthologs for RFLNB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM101B 34 35
  • 98.35 (n)
cow
(Bos Taurus)
Mammalia FAM101B 34 35
  • 85.9 (n)
dog
(Canis familiaris)
Mammalia FAM101B 34 35
  • 85.2 (n)
mouse
(Mus musculus)
Mammalia Fam101b 34 35
  • 81.62 (n)
Rflnb 16
rat
(Rattus norvegicus)
Mammalia Fam101b 34
  • 81 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM101B 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM101B 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM101B 34 35
  • 69.78 (n)
lizard
(Anolis carolinensis)
Reptilia FAM101B 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam101b 34
  • 66.34 (n)
zebrafish
(Danio rerio)
Actinopterygii fam101b 34 35
  • 61.9 (n)
Species where no ortholog for RFLNB 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RFLNB Gene

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

Paralogs for RFLNB Gene

Paralogs for RFLNB Gene

Pseudogenes.org Pseudogenes for RFLNB Gene

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

Variants for RFLNB Gene

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

Variant ID Type Subtype PubMed ID
dgv3070n100 CNV gain 25217958
dgv3071n100 CNV gain 25217958
dgv3072n100 CNV gain 25217958
dgv5386n54 CNV gain 21841781
esv2422420 CNV duplication 17116639
esv3639624 CNV gain 21293372
esv3639625 CNV gain 21293372
esv3892944 CNV gain 25118596
nsv457627 CNV gain 19166990
nsv522031 CNV gain 19592680
nsv573948 CNV gain 21841781
nsv827849 CNV gain 20364138

Variation tolerance for RFLNB Gene

Gene Damage Index Score: 4.35; 63.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RFLNB Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for RFLNB Gene

Disorders for RFLNB Gene

Relevant External Links for RFLNB

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RFLNB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RFLNB

No disorders were found for RFLNB Gene.

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

Publications for RFLNB Gene

  1. Filamin-interacting proteins, Cfm1 and Cfm2, are essential for the formation of cartilaginous skeletal elements. (PMID: 24436304) Mizuhashi K. … Furukawa T. (Hum. Mol. Genet. 2014) 2 3 64
  2. RefilinB (FAM101B) targets filamin A to organize perinuclear actin networks and regulates nuclear shape. (PMID: 21709252) Gay O. … Baudier J. (Proc. Natl. Acad. Sci. U.S.A. 2011) 2 3 64
  3. 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
  4. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3 64
  5. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 4 64

Products for RFLNB Gene

Sources for RFLNB Gene

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