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C2-AS1 C2 antisense RNA 1 [ Homo sapiens (human) ]

Gene ID: 102060414, updated on 10-Apr-2024

Summary

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Official Symbol
C2-AS1provided by HGNC
Official Full Name
C2 antisense RNA 1provided by HGNC
Primary source
HGNC:HGNC:49464
See related
Ensembl:ENSG00000281756 AllianceGenome:HGNC:49464
Gene type
ncRNA
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Biased expression in liver (RPKM 6.4), lung (RPKM 2.5) and 10 other tissues See more
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Genomic context

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Location:
6p21.33
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31934474..31941724, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (31787679..31794928, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31902251..31909501, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene EHMT2 and SLC44A4 antisense RNA 1 Neighboring gene euchromatic histone lysine methyltransferase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31864618-31865314 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:31865398-31865992 Neighboring gene zinc finger and BTB domain containing 12 Neighboring gene complement C2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31915103-31915602 Neighboring gene complement factor B Neighboring gene negative elongation factor complex member E Neighboring gene microRNA 1236

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. Sobrin L, et al. Ophthalmology, 2012 Sep. PMID 22705344, Free PMC Article
  2. Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. Yu Y, et al. Hum Mol Genet, 2011 Sep 15. PMID 21665990, Free PMC Article
  3. Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Chen W, et al. Proc Natl Acad Sci U S A, 2010 Apr 20. PMID 20385819, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
EBI GWAS Catalog
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
EBI GWAS Catalog
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

RNA

  1. NR_104191.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL645922, BX100594
    Related
    ENST00000630806.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    31934474..31941724 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    3411901..3419151 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    3182253..3189502 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

    Range
    3239440..3246691 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

    Range
    3276510..3283759 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

    Range
    3190448..3197698 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

    Range
    3235663..3242912 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    31787679..31794928 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
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