Aliases for ENSG00000285130 Gene

Aliases for ENSG00000285130 Gene

  • Frataxin, Mitochondrial 13
  • Uncharacterized Protein 13
  • Frataxin Isoform 3 13
  • Novel Protein 5
  • AL358113.1 5

External Ids for ENSG00000285130 Gene

Summaries for ENSG00000285130 Gene

GeneCards Summary for ENSG00000285130 Gene

ENSG00000285130 is a Protein Coding gene. An important paralog of this gene is TJP2.

Additional gene information for ENSG00000285130 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ENSG00000285130 Gene

Genomics for ENSG00000285130 Gene

GeneHancer (GH) Regulatory Elements for ENSG00000285130 Gene

Promoters and enhancers for ENSG00000285130 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
GH09J069035 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.4 426 2.1 EP300 CTCF NRF1 TCF12 MYC POLR2G PHF8 ZFX REST POLR2A ENSG00000285130 FXN TJP2 RF00017-7609
GH09J069044 Enhancer 0.9 Ensembl ENCODE CraniofacialAtlas 0.4 +9.5 9454 2.4 NCOR1 TAL1 TCF12 ID3 TEAD4 RFX5 ARID1B CBFA2T2 RFX1 CBFA2T3 PRKACG FXN TJP2 CBWD3 ENSG00000285130 RF00017-7609 piR-48939
GH09J069118 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 0.2 +85.4 85433 4.8 ZNF217 POLR2G USF1 TEAD4 ZIC2 POLR2A KDM6A CLOCK ZBTB26 SAP30 TJP2 lnc-FXN-1 piR-61945-503 PTAR1 FAM122A MAMDC2 PGM5 ENSG00000285130
GH09J069168 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 0.1 +139.9 139851 14.5 EP300 ZBTB40 ZNF217 ZSCAN5C SIN3A TCF12 POLR2G SP1 JUND PHB2 TJP2 PGM5 lnc-PRKACG-2 lnc-FXN-1 FJ601678-152 ENSG00000285130
GH09J069054 Enhancer 0.6 ENCODE 0.4 +18.6 18623 0.2 CTCF REST RAD21 TRIM22 SMC3 ZNF654 HOMEZ KDM3A KAT8 YY1 piR-48939 RF00017-7609 ENSG00000285130 FXN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ENSG00000285130 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ENSG00000285130 Gene

Genomic Locations for ENSG00000285130 Gene
chr9:69,035,747-69,255,187
(GRCh38/hg38)
Size:
219,441 bases
Orientation:
Plus strand

Genomic View for ENSG00000285130 Gene

Genes around ENSG00000285130 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENSG00000285130 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENSG00000285130 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

No data available for RefSeq DNA sequence for ENSG00000285130 Gene

Proteins for ENSG00000285130 Gene

  • Protein details for ENSG00000285130 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    A0A2R8Y4G3-A0A2R8Y4G3_HUMAN
    Recommended name:
    Uncharacterized protein
    Protein Accession:
    A0A2R8Y4G3

    Protein attributes for ENSG00000285130 Gene

    Size:
    196 amino acids
    Molecular mass:
    21611 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ENSG00000285130 Gene

Post-translational modifications for ENSG00000285130 Gene

No Post-translational modifications

Other Protein References for ENSG00000285130 Gene

No data available for DME Specific Peptides for ENSG00000285130 Gene

Domains & Families for ENSG00000285130 Gene

Gene Families for ENSG00000285130 Gene

Unknown:
  • Belongs to the MAGUK family.
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
genes like me logo Genes that share domains with ENSG00000285130: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ENSG00000285130 Gene

Function for ENSG00000285130 Gene

Phenotypes From GWAS Catalog for ENSG00000285130 Gene

Gene Ontology (GO) - Molecular Function for ENSG00000285130 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008199 ferric iron binding IEA --
genes like me logo Genes that share ontologies with ENSG00000285130: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ENSG00000285130 Gene

Localization for ENSG00000285130 Gene

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ENSG00000285130 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005923 bicellular tight junction IEA --
genes like me logo Genes that share ontologies with ENSG00000285130: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for ENSG00000285130 Gene

Pathways & Interactions for ENSG00000285130 Gene

PathCards logo

SuperPathways for ENSG00000285130 Gene

No Data Available
;

Gene Ontology (GO) - Biological Process for ENSG00000285130 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016226 iron-sulfur cluster assembly IEA --
genes like me logo Genes that share ontologies with ENSG00000285130: view

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for ENSG00000285130 Gene

Drugs & Compounds for ENSG00000285130 Gene

No Compound Related Data Available

Transcripts for ENSG00000285130 Gene

mRNA/cDNA for ENSG00000285130 Gene

7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for ENSG00000285130 Gene

No ASD Table

Relevant External Links for ENSG00000285130 Gene

GeneLoc Exon Structure for
ENSG00000285130

Expression for ENSG00000285130 Gene

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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENSG00000285130 Gene

Orthologs for ENSG00000285130 Gene

Evolution for ENSG00000285130 Gene

ENSEMBL:
Gene Tree for ENSG00000285130 (if available)
TreeFam:
Gene Tree for ENSG00000285130 (if available)

No data available for Orthologs for ENSG00000285130 Gene

Paralogs for ENSG00000285130 Gene

Paralogs for ENSG00000285130 Gene

genes like me logo Genes that share paralogs with ENSG00000285130: view

Variants for ENSG00000285130 Gene

Variation tolerance for ENSG00000285130 Gene

Gene Damage Index Score: 11.56; 93.01% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) and Additional Variant Information for ENSG00000285130 Gene

Disorders for ENSG00000285130 Gene

No disorders were found for ENSG00000285130 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for ENSG00000285130 Gene

Publications for ENSG00000285130 Gene

  1. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome AS … Carapito C (Proteomics 2015) 13 54
  2. Initial characterization of the human central proteome. (PMID: 21269460) Burkard TR … Colinge J (BMC systems biology 2011) 13 54
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 13 54

No data available for Mastermind for ENSG00000285130 Gene

Products for ENSG00000285130 Gene

Sources for ENSG00000285130 Gene