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CARMAL coronary artery disease region linked MFGE8 regulatory lncRNA [ Homo sapiens (human) ]

Gene ID: 102724566, updated on 10-Oct-2023

Summary

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Official Symbol
CARMALprovided by HGNC
Official Full Name
coronary artery disease region linked MFGE8 regulatory lncRNAprovided by HGNC
Primary source
HGNC:HGNC:55102
See related
AllianceGenome:HGNC:55102
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
Low expression observed in reference dataset See more
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Genomic context

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See CARMAL in Genome Data Viewer
Location:
15q26.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (89040998..89084229)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (86795895..86839085)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak2417 silencer Neighboring gene keratin 18 pseudogene 47 Neighboring gene MPRA-validated peak2418 silencer Neighboring gene CRISPRi-validated cis-regulatory element chr15.3128 Neighboring gene CRISPRi-validated cis-regulatory element chr15.3129 Neighboring gene capping actin protein of muscle Z-line subunit alpha 2 pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89536398-89537299 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:89542092-89542895 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89545400-89546011 Neighboring gene Sharpr-MPRA regulatory region 4646 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:89547127-89547627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89574853-89575354 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89592211-89592762 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:89602566-89603066 Neighboring gene abhydrolase domain containing 2, acylglycerol lipase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10040 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:89630450-89631095 Neighboring gene uncharacterized LOC124903573 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89631827-89632346 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:89644900-89646099 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:89654480-89655018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10042 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89658786-89659361 Neighboring gene RNA, U7 small nuclear 195 pseudogene

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. CARMAL Is a Long Non-coding RNA Locus That Regulates MFGE8 Expression. Soubeyrand S, et al. Front Genet, 2020. PMID 32625236, Free PMC Article
  2. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. N'Diaye A, et al. PLoS Genet, 2011 Oct. PMID 21998595, Free PMC Article
  3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, 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
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Potential readthrough

Included gene: ABHD2

Other Names

  • CARMA associated lncRNA'
  • RP11-326A19.4

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_183880.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC013565

  2. NR_183881.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC013565

  3. NR_183882.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC013565

  4. NR_183883.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC013565

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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    89040998..89084229
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    86795895..86839085
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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