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Aliases for C2-AS1 Gene

Subcategory (RNA class) for C2-AS1 Gene

non-coding RNA

Quality Score for this RNA gene is

3

Aliases for C2-AS1 Gene

  • C2 Antisense RNA 1 2 3 5

External Ids for C2-AS1 Gene

Previous GeneCards Identifiers for C2-AS1 Gene

  • GC06U902559
  • GC06M031936

Summaries for C2-AS1 Gene

GeneCards Summary for C2-AS1 Gene

C2-AS1 (C2 Antisense RNA 1) is an RNA Gene, and is affiliated with the non-coding RNA class.

Additional gene information for C2-AS1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C2-AS1 Gene

Genomics for C2-AS1 Gene

GeneHancer (GH) Regulatory Elements for C2-AS1 Gene

Promoters and enhancers for C2-AS1 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
GH06I031940 Enhancer 0.7 ENCODE 550.8 +1.4 1355 0.2 SIX4 TFAP4 SAP130 FEZF1 ETS1 TEAD3 ZNF335 GATA3 STAT1 KLF6 C2-AS1 SKIV2L ENSG00000244255 C2
GH06I031928 Enhancer 0.8 ENCODE 0.4 +12.2 12249 1.2 BCOR ELF3 PKNOX1 SAP130 ARID4B ZNF384 CEBPG E4F1 ZSCAN9 TRIM24 ENSG00000244255 SKIV2L MIR1236 STK19 C4A ZBTB12 NEU1 EHMT2 C2 VARS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C2-AS1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for C2-AS1 Gene

Genomic Locations for C2-AS1 Gene
chr6:31,934,474-31,941,724
(GRCh38/hg38)
Size:
7,251 bases
Orientation:
Minus strand

Genomic View for C2-AS1 Gene

Genes around C2-AS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2-AS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2-AS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for C2-AS1 Gene

Post-translational modifications for C2-AS1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for C2-AS1 Gene

Domains & Families for C2-AS1 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C2-AS1 Gene

Function for C2-AS1 Gene

Phenotypes From GWAS Catalog for C2-AS1 Gene

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C2-AS1 Gene

Localization for C2-AS1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for C2-AS1 Gene

Pathways & Interactions for C2-AS1 Gene

SuperPathways for C2-AS1 Gene

No Data Available

Interacting Proteins for C2-AS1 Gene

Gene Ontology (GO) - Biological Process for C2-AS1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C2-AS1 Gene

Drugs & Compounds for C2-AS1 Gene

No Compound Related Data Available

Transcripts for C2-AS1 Gene

mRNA/cDNA for C2-AS1 Gene

(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for C2-AS1 Gene

No ASD Table

Relevant External Links for C2-AS1 Gene

GeneLoc Exon Structure for
C2-AS1
ECgene alternative splicing isoforms for
C2-AS1

Expression for C2-AS1 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 C2-AS1 Gene

Orthologs for C2-AS1 Gene

Evolution for C2-AS1 Gene

ENSEMBL:
Gene Tree for C2-AS1 (if available)
TreeFam:
Gene Tree for C2-AS1 (if available)

No data available for Orthologs for C2-AS1 Gene

Paralogs for C2-AS1 Gene

No data available for Paralogs for C2-AS1 Gene

Variants for C2-AS1 Gene

Sequence variations from dbSNP and Humsavar for C2-AS1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1042663 likely-benign, benign, Macular degeneration, Complement component 2 deficiency, not specified 31,937,353(-) G/A intron_variant
rs117576077 likely-benign, Macular degeneration, Complement component 2 deficiency 31,939,220(-) C/T intron_variant
rs140225293 likely-benign, Atypical hemolytic uremic syndrome, Macular degeneration 31,943,100(-) G/A upstream_transcript_variant
rs142243595 likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, Atypical hemolytic uremic syndrome, Complement component 2 deficiency, Macular degeneration 31,943,278(-) G/A/T upstream_transcript_variant
rs145988012 uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, Complement component 2 deficiency, Macular degeneration, Atypical hemolytic uremic syndrome 31,943,314(-) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for C2-AS1 Gene

Variant ID Type Subtype PubMed ID
dgv10403n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
dgv10463n54 CNV loss 21841781
esv2759415 CNV gain+loss 17122850
esv3570963 CNV loss 25503493
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv428141 CNV gain+loss 18775914
nsv508399 CNV deletion 20534489
nsv509126 CNV insertion 20534489
nsv601960 CNV loss 21841781
nsv830628 CNV loss 17160897

Additional Variant Information for C2-AS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C2-AS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for C2-AS1 Gene

Disorders for C2-AS1 Gene

Additional Disease Information for C2-AS1

No disorders were found for C2-AS1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C2-AS1 Gene

Publications for C2-AS1 Gene

  1. Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. (PMID: 22705344) Sobrin L … Seddon JM (Ophthalmology 2012) 3 58
  2. Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. (PMID: 21665990) Yu Y … Seddon JM (Human molecular genetics 2011) 3 58
  3. Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. (PMID: 20385819) Chen W … Swaroop A (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 58

Products for C2-AS1 Gene

Sources for C2-AS1 Gene

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