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

Gene ID: 84064, updated on 23-Nov-2023

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, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 11.6), thyroid (RPKM 10.9) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (47107410..47150500, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (47297708..47340812, complement)
105.20220307 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 (20) 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)

Genotypes

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 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in dephosphorylation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
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_2023_10

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

    UniProtKB/TrEMBL
    K7ER15

  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

    UniProtKB/TrEMBL
    K7ER15
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H0R4.1 GenPept UniProtKB/Swiss-Prot:Q9H0R4

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