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TIMM8AP1 translocase of inner mitochondrial membrane 8A pseudogene 1 [ Homo sapiens (human) ]

Gene ID: 399520, updated on 10-Oct-2023

Summary

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Official Symbol
TIMM8AP1provided by HGNC
Official Full Name
translocase of inner mitochondrial membrane 8A pseudogene 1provided by HGNC
Primary source
HGNC:HGNC:17802
See related
AllianceGenome:HGNC:17802
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
DDPP; TIMM8AP
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Genomic context

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Location:
2q24.2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (162076515..162077711, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (162533152..162534348, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (162933025..162934221, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 4 member 10 Neighboring gene ribulose-5-phosphate-3-epimerase pseudogene 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:162854969-162855469 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54939 Neighboring gene dipeptidyl peptidase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16715 Neighboring gene Sharpr-MPRA regulatory region 3711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16716 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12061 Neighboring gene DPP4 promoter region Neighboring gene DPP4 -4.2 kb glucocorticoid response element Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:162949234-162950433 Neighboring gene DPP4 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 10348 Neighboring gene uncharacterized LOC101929532 Neighboring gene EIF3E pseudogene 2 Neighboring gene GCG promoter region Neighboring gene glucagon

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. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Jin H, et al. Nat Genet, 1996 Oct. PMID 8841189

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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Markers

Other Names

  • deafness dystonia pseudogene
  • translocase of inner mitochondrial membrane 8 homolog A 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_003187.3 

    Range
    101..1297
    Download
    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    162076515..162077711 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    162533152..162534348 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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