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Aliases for RFLNA Gene

Aliases for RFLNA Gene

  • Refilin A 2 3 5
  • Family With Sequence Similarity 101, Member A 2 3
  • Regulator Of Filamin Protein A 3 4
  • RefilinA 3 4
  • FAM101A 3 4
  • Filamin-Interacting Protein FAM101A 3
  • Protein FAM101A 3
  • CFM2 3

External Ids for RFLNA Gene

Previous HGNC Symbols for RFLNA Gene

  • FAM101A

Summaries for RFLNA Gene

GeneCards Summary for RFLNA Gene

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

UniProtKB/Swiss-Prot for RFLNA Gene

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

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

Genomics for RFLNA Gene

Regulatory Elements for RFLNA Gene

Enhancers for RFLNA 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
GH12F124235 1.5 FANTOM5 Ensembl ENCODE 55.9 +263.4 263367 2.2 PKNOX1 SIN3A FEZF1 ZNF2 GLIS2 ZNF548 FOS ZNF263 YY2 ZNF488 RFLNA EIF2B1 RPL27P12 ENSG00000256814 LOC100131779 ATP6V0A2 LOC105370046 NCOR2 SBNO1 LOC101927415
GH12F124231 1.2 Ensembl ENCODE 45.2 +259.9 259939 4.0 YBX1 RAD21 ZBTB40 GLIS2 ZNF766 KLF7 FOS ZHX1 EGR2 YY2 RFLNA ENSG00000275389 LOC105370046 LOC105370045
GH12F124377 1.8 FANTOM5 Ensembl ENCODE 10.3 +415.2 415247 21.2 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF263 SP3 MEF2D ZNF585B TCTN2 GTF2H3 EIF2B1 RFLNA ENSG00000270130 NCOR2 ENSG00000255965 LOC105370047
GH12F124029 1.1 Ensembl ENCODE 11.7 +57.5 57523 1.8 SIN3A ZBTB40 SCRT2 FOS OVOL3 USF2 ZNF623 RAD51 SMARCA4 MYNN CCDC92 RFLNA ZNF664 DNAH10OS PIR55353 ENSG00000275389
GH12F124861 1.4 FANTOM5 ENCODE 9 +889.9 889907 3.2 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 KLF13 SP3 SP5 UBC ENSG00000270130 RFLNA LOC105370050 GC12P124823
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RFLNA on UCSC Golden Path with GeneCards custom track

Promoters for RFLNA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000438759 -441 3601 HDGF ARID4B SIN3A ZNF48 ETS1 YY1 ZNF121 GLIS2 ZNF207 ZNF143

Genomic Location for RFLNA Gene

Chromosome:
12
Start:
123,973,241 bp from pter
End:
124,316,024 bp from pter
Size:
342,784 bases
Orientation:
Plus strand

Genomic View for RFLNA Gene

Genes around RFLNA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RFLNA Gene

Proteins for RFLNA Gene

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

    Protein Symbol:
    Q6ZTI6-F101A_HUMAN
    Recommended name:
    Filamin-interacting protein FAM101A
    Protein Accession:
    Q6ZTI6
    Secondary Accessions:
    • A5D8T5

    Protein attributes for RFLNA Gene

    Size:
    216 amino acids
    Molecular mass:
    23610 Da
    Quaternary structure:
    • Interacts with FLNA and FLNB.

    Alternative splice isoforms for RFLNA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RFLNA Gene

Post-translational modifications for RFLNA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RFLNA Gene

No data available for DME Specific Peptides for RFLNA Gene

Domains & Families for RFLNA Gene

Protein Domains for RFLNA Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RFLNA Gene

Graphical View of Domain Structure for InterPro Entry

Q6ZTI6

UniProtKB/Swiss-Prot:

F101A_HUMAN :
  • Belongs to the FAM101 family.
Family:
  • Belongs to the FAM101 family.
genes like me logo Genes that share domains with RFLNA: view

No data available for Gene Families for RFLNA Gene

Function for RFLNA Gene

Molecular function for RFLNA 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 actin cytoskeleton formation in developing cartilaginous cells.

Gene Ontology (GO) - Molecular Function for RFLNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0031005 filamin binding IEA --
genes like me logo Genes that share ontologies with RFLNA: view
genes like me logo Genes that share phenotypes with RFLNA: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RFLNA Gene

Localization for RFLNA Gene

Subcellular locations from UniProtKB/Swiss-Prot for RFLNA Gene

Cytoplasm, cytoskeleton. Note=Colocalizes with FLNA along actin bundle-like structures. {ECO:0000250 UniProtKB:Q7TS73}.

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 RFLNA gene
Compartment Confidence
extracellular 2
cytoskeleton 2
nucleus 2
cytosol 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RFLNA Gene

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

Pathways & Interactions for RFLNA Gene

SuperPathways for RFLNA Gene

No Data Available

Interacting Proteins for RFLNA Gene

Selected Interacting proteins: Q6ZTI6-F101A_HUMAN for RFLNA Gene via UniProtKB IID

Gene Ontology (GO) - Biological Process for RFLNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0048705 skeletal system morphogenesis IEA --
GO:0061182 negative regulation of chondrocyte development IEA --
GO:0061572 actin filament bundle organization IEA --
GO:1900158 negative regulation of bone mineralization involved in bone maturation IEA --
genes like me logo Genes that share ontologies with RFLNA: view

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

Transcripts for RFLNA Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for RFLNA Gene

GeneLoc Exon Structure for
RFLNA
ECgene alternative splicing isoforms for
RFLNA

Expression for RFLNA Gene

NURSA nuclear receptor signaling pathways regulating expression of RFLNA Gene:

RFLNA
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for RFLNA Gene

Orthologs for RFLNA Gene

This gene was present in the common ancestor of chordates.

Orthologs for RFLNA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM101A 34 35
  • 97.78 (n)
cow
(Bos Taurus)
Mammalia FAM101A 34 35
  • 88.64 (n)
dog
(Canis familiaris)
Mammalia FAM101A 34 35
  • 88.47 (n)
mouse
(Mus musculus)
Mammalia Fam101a 34 35
  • 80.74 (n)
rat
(Rattus norvegicus)
Mammalia Fam101a 34
  • 78.52 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM101A 35
  • 45 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM101A 35
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM101A 35
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM101A 35
  • 40 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii fam101a 35
  • 32 (a)
OneToOne
Species where no ortholog for RFLNA 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RFLNA Gene

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

Paralogs for RFLNA Gene

Paralogs for RFLNA Gene

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

Variants for RFLNA Gene

Sequence variations from dbSNP and Humsavar for RFLNA Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1021707 -- 124,309,734(-) CATCC(C/T)CCTGC intron-variant
rs10773078 -- 124,287,287(+) TCGCC(A/G)AGTGA intron-variant, upstream-variant-2KB
rs10773079 -- 124,297,146(+) CGACC(G/T)GGAAT intron-variant
rs10773080 -- 124,299,429(+) GGCGA(C/T)TTGTG intron-variant
rs10773081 -- 124,299,895(+) CTCCC(C/T)GCCCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv952500 CNV deletion 24416366
nsv818930 CNV gain 17921354
nsv560539 CNV loss 21841781
nsv53622 CNV deletion 16902084
nsv470322 CNV loss 18288195
nsv1145637 CNV deletion 24896259
esv3631013 CNV loss 21293372
esv3631012 CNV gain 21293372
esv3631011 CNV gain 21293372
esv3631010 CNV gain 21293372
esv3549931 CNV deletion 23714750
esv2746521 CNV deletion 23290073
esv2746520 CNV deletion 23290073
esv2669580 CNV deletion 23128226
esv1202818 CNV insertion 17803354

Variation tolerance for RFLNA Gene

Residual Variation Intolerance Score: 73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.60; 45.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RFLNA Gene

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

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

Disorders for RFLNA Gene

Relevant External Links for RFLNA

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RFLNA

No disorders were found for RFLNA Gene.

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

Publications for RFLNA 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 finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer S.E. … Gibbs R.A. (Nature 2006) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for RFLNA Gene

Sources for RFLNA Gene

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