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
  • Refilin-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. Diseases associated with RFLNA include Spondylocarpotarsal Synostosis Syndrome. An important paralog of this gene is RFLNB.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for RFLNA Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RFLNA Gene

Genomics for RFLNA Gene

GeneHancer (GH) Regulatory Elements for RFLNA Gene

Promoters and enhancers for RFLNA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J123971 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 -0.2 -240 4.4 ZBTB40 SMARCE1 POLR2A MYC MAX POU5F1 SP1 ZNF148 NKRF ZFX CCDC92 ENSG00000270095 ENSG00000274874 RFLNA ZNF664 ZNF664-RFLNA DNAH10 DNAH10OS
GH12J124295 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 750.1 +323.0 322987 4.7 ZIC2 ZBTB33 ZNF512 EZH2 POLR2A BCOR GATA3 MAX ZMYM3 KDM1A RFLNA RF00017-1331 lnc-CCDC92-4 ZNF664-RFLNA
GH12J124231 Enhancer 1 FANTOM5 Ensembl ENCODE 56 +261.2 261248 6.6 ZBTB40 MNT CREB1 HES1 ZFX YBX1 KLF4 FOS GATA3 ZNF687 RFLNA ENSG00000247373 lnc-NCOR2-2 RF00017-1330 lnc-ZNF664-2 ZNF664-RFLNA
GH12J124861 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9 +889.9 889907 3.2 ZNF24 SP1 ZBTB6 RBPJ SMARCE1 POLR2A USF2 MIXL1 MYC ETV6 lnc-BRI3BP-7 SCARB1 UBC CCDC92 RFLNA lnc-UBC-1 RF00017-1333
GH12J124377 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.3 +415.7 415745 22.2 SIN3A ZNF24 CTCF SREBF1 RBPJ POLR2A USF2 NR2F1 NR2F6 ZNF217 RFLNA NCOR2 ENSG00000255965 5MWI_A-040
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RFLNA on UCSC Golden Path with GeneCards custom track

Genomic Locations for RFLNA Gene

Genomic Locations for RFLNA Gene
chr12:123,973,241-124,316,024
(GRCh38/hg38)
Size:
342,784 bases
Orientation:
Plus strand
chr12:124,457,788-124,800,570
(GRCh37/hg19)
Size:
342,783 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-RFLA_HUMAN
    Recommended name:
    Refilin-A
    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

Gene Families for RFLNA Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RFLNA Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RFLNA Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM101A (F101A_HUMAN)
  • cDNA FLJ90064 fis, clone HEMBA1003487 (Q8N2Q0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZTI6

UniProtKB/Swiss-Prot:

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

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.

Phenotypes From GWAS Catalog for RFLNA Gene

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 IBA 21873635
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

CRISPR Products

Clone 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
cytoskeleton 3
plasma membrane 1
extracellular 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

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 IBA 21873635
genes like me logo Genes that share ontologies with RFLNA: view

Pathways & Interactions for RFLNA Gene

PathCards logo

SuperPathways for RFLNA Gene

No Data Available

Interacting Proteins for RFLNA Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q6ZTI6-RFLA_HUMAN ENSP00000374377 for RFLNA Gene via UniProtKB STRING IID

Gene Ontology (GO) - Biological Process for RFLNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0048705 skeletal system morphogenesis IBA 21873635
GO:0061181 regulation of chondrocyte development IEA --
GO:0061182 negative regulation of chondrocyte development IBA 21873635
GO:0061572 actin filament bundle organization IBA 21873635
GO:1900158 negative regulation of bone mineralization involved in bone maturation IBA 21873635
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

Drugs & Compounds for RFLNA Gene

No Compound Related Data Available

Transcripts for RFLNA Gene

mRNA/cDNA for RFLNA Gene

CRISPR Products

Clone 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

Evidence on tissue expression from TISSUES for RFLNA Gene

  • Nervous system(4.1)
No Expression Related Data Available

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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 32
  • 97.78 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM101A 33 32
  • 88.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM101A 33 32
  • 88.47 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fam101a 33 32
  • 80.74 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam101a 32
  • 78.52 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM101A 33
  • 45 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM101A 33
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM101A 33
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM101A 33
  • 40 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii fam101a 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RFLNA: view image

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 Variation AA Info Type
rs1000016756 -- 124,300,329(+) A/G intron_variant
rs1000031217 -- 124,305,210(+) C/T intron_variant
rs1000048144 -- 124,310,723(+) T/C intron_variant
rs1000185738 -- 124,295,462(+) G/A coding_sequence_variant, intron_variant, synonymous_variant
rs1000249135 -- 124,290,142(+) A/G genic_upstream_transcript_variant, intron_variant

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

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

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)

Additional Variant Information 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

MalaCards: The human disease database

(1) MalaCards diseases for RFLNA Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
spondylocarpotarsal synostosis syndrome
  • sct
- elite association - COSMIC cancer census association via MalaCards
Search RFLNA in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RFLNA

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

No data available for 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 (Human molecular genetics 2014) 2 3 56
  2. RefilinB (FAM101B) targets filamin A to organize perinuclear actin networks and regulates nuclear shape. (PMID: 21709252) Gay O … Baudier J (Proceedings of the National Academy of Sciences of the United States of America 2011) 2 3 56
  3. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer SE … Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team (Nature 2006) 3 4 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  5. Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome. (PMID: 30796325) Shimizu H … Dateki S (Journal of human genetics 2019) 3 56

Products for RFLNA Gene

Sources for RFLNA Gene