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    HDHD2 haloacid dehalogenase like hydrolase domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 84064, updated on 27-Nov-2024

    Summary

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    Official Symbol
    HDHD2provided by HGNC
    Official Full Name
    haloacid dehalogenase like hydrolase domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:25364
    See related
    Ensembl:ENSG00000167220 AllianceGenome:HGNC:25364
    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
    Also known as
    HEL-S-301; 3110052N05Rik
    Summary
    Enables enzyme binding activity. Predicted to be involved in dephosphorylation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 11.6), thyroid (RPKM 10.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HDHD2 in Genome Data Viewer
    Location:
    18q21.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (47107410..47150500, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (47297708..47340812, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (44633781..44676871, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene katanin catalytic subunit A1 like 2 Neighboring gene elongin A2 Neighboring gene uncharacterized LOC105372098 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:44626710-44626922 Neighboring gene small ubiquitin-related modifier 2-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44665671-44666170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13284 Neighboring gene immediate early response 3 interacting protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13286 Neighboring gene Sharpr-MPRA regulatory region 3693 Neighboring gene SKI family transcriptional corepressor 2 Neighboring gene RNA, U6 small nuclear 1131, 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. A conserved acetylation switch enables pharmacological control of tubby-like protein stability. Kerek EM, et al. J Biol Chem, 2021 Jan-Jun. PMID 33187986, Free PMC Article
    2. Alterations in the brain interactome of the intrinsically disordered N-terminal domain of the cellular prion protein (PrPC) in Alzheimer's disease. Ulbrich S, et al. PLoS One, 2018. PMID 29791485, Free PMC Article
    3. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article
    4. From ORFeome to biology: a functional genomics pipeline. Wiemann S, et al. Genome Res, 2004 Oct. PMID 15489336, Free PMC Article
    5. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. Wiemann S, et al. Genome Res, 2001 Mar. PMID 11230166, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp564D1378

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    haloacid dehalogenase-like hydrolase domain-containing protein 2
    Names
    epididymis secretory protein Li 301
    epididymis secretory sperm binding protein

    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_001318765.2 → NP_001305694.1  haloacid dehalogenase-like hydrolase domain-containing protein 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in its 5' UTR and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC012254, AC051635
      UniProtKB/Swiss-Prot
      Q9H0R4
      Conserved Domains (1) summary
      cl21460
      Location:1 → 165
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    2. NM_032124.5 → NP_115500.1  haloacid dehalogenase-like hydrolase domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_115500.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC012254, AC051635
      Consensus CDS
      CCDS32829.1
      UniProtKB/Swiss-Prot
      A8K7T3, Q96NV4, Q9H0R4
      UniProtKB/TrEMBL
      V9HW73
      Related
      ENSP00000300605.4, ENST00000300605.11
      Conserved Domains (1) summary
      cd07509
      Location:8 → 255
      HAD_PPase; inorganic pyrophosphatase similar to a human phospholysine phosphohistidine inorganic pyrophosphate phosphatase (LHPP)

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      47107410..47150500 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005258371.5 → XP_005258428.1  haloacid dehalogenase-like hydrolase domain-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      K7ER15
      Conserved Domains (1) summary
      cd07509
      Location:8 → 225
      HAD_PPase; inorganic pyrophosphatase similar to a human phospholysine phosphohistidine inorganic pyrophosphate phosphatase (LHPP)

    2. XM_011526227.3 → XP_011524529.1  haloacid dehalogenase-like hydrolase domain-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011524529.1

      UniProtKB/Swiss-Prot
      A8K7T3, Q96NV4, Q9H0R4
      UniProtKB/TrEMBL
      V9HW73
      Conserved Domains (1) summary
      cd07509
      Location:8 → 255
      HAD_PPase; inorganic pyrophosphatase similar to a human phospholysine phosphohistidine inorganic pyrophosphate phosphatase (LHPP)

    3. XM_017026039.2 → XP_016881528.1  haloacid dehalogenase-like hydrolase domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A8K7T3, Q96NV4, Q9H0R4
      UniProtKB/TrEMBL
      V9HW73
      Conserved Domains (1) summary
      cd07509
      Location:8 → 255
      HAD_PPase; inorganic pyrophosphatase similar to a human phospholysine phosphohistidine inorganic pyrophosphate phosphatase (LHPP)

    4. XM_011526228.4 → XP_011524530.1  haloacid dehalogenase-like hydrolase domain-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011524530.1

      UniProtKB/Swiss-Prot
      A8K7T3, Q96NV4, Q9H0R4
      UniProtKB/TrEMBL
      V9HW73
      Conserved Domains (1) summary
      cd07509
      Location:8 → 255
      HAD_PPase; inorganic pyrophosphatase similar to a human phospholysine phosphohistidine inorganic pyrophosphate phosphatase (LHPP)

    5. XM_024451272.2 → XP_024307040.1  haloacid dehalogenase-like hydrolase domain-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      K7ER15
      Related
      ENSP00000468067.1, ENST00000590815.5
      Conserved Domains (1) summary
      cd07509
      Location:8 → 225
      HAD_PPase; inorganic pyrophosphatase similar to a human phospholysine phosphohistidine inorganic pyrophosphate phosphatase (LHPP)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      47297708..47340812 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319267.1 → XP_054175242.1  haloacid dehalogenase-like hydrolase domain-containing protein 2 isoform X2

    2. XM_054319264.1 → XP_054175239.1  haloacid dehalogenase-like hydrolase domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A8K7T3, Q96NV4, Q9H0R4
      UniProtKB/TrEMBL
      V9HW73

    3. XM_054319265.1 → XP_054175240.1  haloacid dehalogenase-like hydrolase domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A8K7T3, Q96NV4, Q9H0R4
      UniProtKB/TrEMBL
      V9HW73

    4. XM_054319266.1 → XP_054175241.1  haloacid dehalogenase-like hydrolase domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A8K7T3, Q96NV4, Q9H0R4
      UniProtKB/TrEMBL
      V9HW73

    5. XM_054319268.1 → XP_054175243.1  haloacid dehalogenase-like hydrolase domain-containing protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H0R4.1 GenPept UniProtKB/Swiss-Prot:Q9H0R4

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