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HERC2P1 HERC2 pseudogene 1 [ Homo sapiens (human) ]

Gene ID: 8917, updated on 11-Nov-2023

Summary

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Official Symbol
HERC2P1provided by HGNC
Official Full Name
HERC2 pseudogene 1provided by HGNC
Primary source
HGNC:HGNC:4869
See related
AllianceGenome:HGNC:4869
Gene type
pseudo
RefSeq status
INFERRED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
D15F37S2
Annotation information
Note: On NCBI's build 37.1, HGNC and NCBI annotated this gene as HERC2P7 (HGNC id: 4875). In August 2010 it was determined by NCBI and HGNC that the this gene should be termed HERC2P1 (HGNC id: 4869). This decision was made based on PMID: 9949213 which describes the genomic location of HERC2P1 as chromosome 15:28573729..28580221(+) where HERC2P7 was annotated in Build 37.1. As of August 2010 HERC2P7 is placed at chromosome 15:23377989..23403847(+) where LOC100132101 is located in Build 37.1. [13 Feb 2013]
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Genomic context

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Location:
15q13.1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (28332228..28335061)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (26074985..26077817)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (28577374..28580207)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene OCA2 melanosomal transmembrane protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:28142467-28142967 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:28149284-28149784 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_39258 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_39278 Neighboring gene ribosomal protein L5 pseudogene 32 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:28228378-28228878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:28264414-28265082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:28268807-28269306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:28343756-28344408 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:28352349-28352910 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:28352911-28353471 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:28359141-28359640 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 15:28365618 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:28377589-28378366 Neighboring gene HECT and RLD domain containing E3 ubiquitin protein ligase 2 Neighboring gene MPRA-validated peak2277 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:28526505-28527006 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:28537256-28537799 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:28563777-28564427 Neighboring gene pectinesterase inhibitor 10-like Neighboring gene ribosomal protein L41 pseudogene 2 Neighboring gene golgin A6 family like 24

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. Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes. Buiting K, et al. Cytogenet Cell Genet, 1998. PMID 9730612
  2. The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities. Ji Y, et al. Hum Mol Genet, 1999 Mar. PMID 9949213

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

  • hect domain and RLD 2 pseudogene 1

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.

Genomic

  1. NG_005644.6 

    Range
    101..2934
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    GenBank, FASTA, Sequence Viewer (Graphics)

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
    28332228..28335061
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_011332701.1 Reference GRCh38.p14 PATCHES

    Range
    465659..468491
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315943.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    20188..23021
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187660.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    579445..582277
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    26074985..26077817
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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