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    ECEL1P2 endothelin converting enzyme like 1 pseudogene 2 [ Homo sapiens (human) ]

    Gene ID: 347694, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ECEL1P2provided by HGNC
    Official Full Name
    endothelin converting enzyme like 1 pseudogene 2provided by HGNC
    Primary source
    HGNC:HGNC:14019
    See related
    Ensembl:ENSG00000224516 AllianceGenome:HGNC:14019
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ECEL2
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    Genomic context

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    See ECEL1P2 in Genome Data Viewer
    Location:
    2q37.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (232385750..232387044, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (232872524..232873818, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (233250460..233251754, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene endothelin converting enzyme like 1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17322 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233230050-233230646 Neighboring gene uncharacterized LOC124906123 Neighboring gene NANOG hESC enhancer GRCh37_chr2:233239812-233240379 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:233243260-233244227 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233245487-233246037 Neighboring gene alkaline phosphatase, placental Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:233271618-233272817 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233273180-233273680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233273681-233274181 Neighboring gene alkaline phosphatase, germ cell Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:233282988-233283771 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:233284555-233285338 Neighboring gene endothelin converting enzyme like 1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Organization and chromosomal localization of the human ECEL1 (XCE) gene encoding a zinc metallopeptidase involved in the nervous control of respiration. Valdenaire O, et al. Biochem J, 2000 Mar 15. PMID 10698686, Free PMC Article
    2. Complex arrangement of genes within a 220-kb region of double-duplicated DNA on human 2q37.1. Rump A, et al. Genomics, 2001 Apr 1. PMID 11352565
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Other Names

    • ECEL2 (XCE) pseudogene 2
    • ecel1 pseudogene 2

    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_028501.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC068134, BC067110
      Related
      ENST00000461596.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      232385750..232387044 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      232872524..232873818 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_002701.3: Suppressed sequence

      Description
      NG_002701.3: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.

    2. NG_023671.1: Suppressed sequence

      Description
      NG_023671.1: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.
    Nucleotide Protein
    Heading Accession and Version

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