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ASPHD2 aspartate beta-hydroxylase domain containing 2 [ Homo sapiens (human) ]

Gene ID: 57168, updated on 29-Oct-2022

Summary

Official Symbol
ASPHD2provided by HGNC
Official Full Name
aspartate beta-hydroxylase domain containing 2provided by HGNC
Primary source
HGNC:HGNC:30437
See related
Ensembl:ENSG00000128203 AllianceGenome:HGNC:30437
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable dioxygenase activity and metal ion binding activity. Predicted to be involved in peptidyl-amino acid modification. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in brain (RPKM 5.9), stomach (RPKM 5.0) and 20 other tissues See more
Orthologs
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Genomic context

See ASPHD2 in Genome Data Viewer
Location:
22q12.1
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (26429260..26445015)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (26891706..26907453)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (26825226..26840981)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 495 Neighboring gene ribosomal protein S3A pseudogene Neighboring gene HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 Neighboring gene SRR1 domain containing Neighboring gene tuftelin interacting protein 11 Neighboring gene TFIP11 divergent transcript

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ39838

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dioxygenase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in peptidyl-amino acid modification IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in membrane HDA PubMed 

General protein information

Preferred Names
aspartate beta-hydroxylase domain-containing protein 2
NP_065170.2

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.

mRNA and Protein(s)

  1. NM_020437.5NP_065170.2  aspartate beta-hydroxylase domain-containing protein 2

    See identical proteins and their annotated locations for NP_065170.2

    Status: VALIDATED

    Source sequence(s)
    AL161993, Z99714
    Consensus CDS
    CCDS13834.2
    UniProtKB/Swiss-Prot
    Q6ICH7, Q9NSN3
    UniProtKB/TrEMBL
    A0A024R1D0
    Related
    ENSP00000215906.5, ENST00000215906.6
    Conserved Domains (1) summary
    pfam05118
    Location:192351
    Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    26429260..26445015
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    26891706..26907453
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)