Aliases for HDHD2 Gene

Aliases for HDHD2 Gene

  • Haloacid Dehalogenase Like Hydrolase Domain Containing 2 2 3 5
  • Haloacid Dehalogenase-Like Hydrolase Domain-Containing Protein 2 3 4
  • Haloacid Dehalogenase-Like Hydrolase Domain Containing 2 2
  • Epididymis Secretory Sperm Binding Protein 3
  • Epididymis Secretory Protein Li 301 3
  • 3110052N05Rik 3
  • HEL-S-301 3

External Ids for HDHD2 Gene

Previous GeneCards Identifiers for HDHD2 Gene

  • GC18M042887
  • GC18M044633
  • GC18M041481

Summaries for HDHD2 Gene

GeneCards Summary for HDHD2 Gene

HDHD2 (Haloacid Dehalogenase Like Hydrolase Domain Containing 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include enzyme binding. An important paralog of this gene is LHPP.

Gene Wiki entry for HDHD2 Gene

Additional gene information for HDHD2 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HDHD2 Gene

Genomics for HDHD2 Gene

GeneHancer (GH) Regulatory Elements for HDHD2 Gene

Promoters and enhancers for HDHD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J047149 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 512.7 +0.4 403 3.4 ZBTB40 ZNF217 EP300 NRF1 POLR2G PHF8 PHB2 ZFX POLR2A ZBTB11 HDHD2 lnc-IER3IP1-1 lnc-KATNAL2-13 IER3IP1 KATNAL2 RF00876-008 ENSG00000267228
GH18J047108 Promoter 0.4 EPDnew 522.4 +42.1 42100 0.1 EZH2 HDHD2 ENSG00000267724 RF00994-443 ENSG00000267228
GH18J047113 Promoter 0.3 EPDnew 511.6 +37.5 37480 0.1 HDHD2 ENSG00000267724 RF00994-443 ENSG00000267228
GH18J047174 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 23.8 -25.2 -25185 2.6 EP300 POLR2G NCOR1 PHF8 ZFX ZNF10 REST POLR2A ZBTB10 ZBTB26 IER3IP1 ENSG00000267228 piR-31292-077 HDHD2 KATNAL2 RF00017-2668
GH18J047184 Enhancer 1 Ensembl ENCODE 21.6 -34.1 -34085 1.2 NRF1 RBAK ZBTB11 ZNF510 TOE1 MYC TAF9B NCOR1 ZNF316 NFIC HDHD2 IER3IP1 ENSG00000267724 KATNAL2 piR-48369-073 RF00026-486 RNU6-1131P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HDHD2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HDHD2

Top Transcription factor binding sites by QIAGEN in the HDHD2 gene promoter:
  • Gfi-1
  • HSF2
  • Meis-1
  • Meis-1a
  • Meis-1b
  • Pax-3
  • POU3F2
  • SRF (504 AA)
  • TBP
  • TGIF

Genomic Locations for HDHD2 Gene

Genomic Locations for HDHD2 Gene
chr18:47,107,408-47,150,515
(GRCh38/hg38)
Size:
43,108 bases
Orientation:
Minus strand
chr18:44,633,774-44,676,891
(GRCh37/hg19)
Size:
43,118 bases
Orientation:
Minus strand

Genomic View for HDHD2 Gene

Genes around HDHD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HDHD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HDHD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HDHD2 Gene

Proteins for HDHD2 Gene

  • Protein details for HDHD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0R4-HDHD2_HUMAN
    Recommended name:
    Haloacid dehalogenase-like hydrolase domain-containing protein 2
    Protein Accession:
    Q9H0R4
    Secondary Accessions:
    • A8K7T3
    • Q96NV4

    Protein attributes for HDHD2 Gene

    Size:
    259 amino acids
    Molecular mass:
    28536 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for HDHD2 Gene

    Alternative splice isoforms for HDHD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HDHD2 Gene

Post-translational modifications for HDHD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HDHD2 Gene

Domains & Families for HDHD2 Gene

Gene Families for HDHD2 Gene

Protein Domains for HDHD2 Gene

Suggested Antigen Peptide Sequences for HDHD2 Gene

GenScript: Design optimal peptide antigens:
  • Haloacid dehalogenase-like hydrolase domain-containing protein 2 (HDHD2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H0R4

UniProtKB/Swiss-Prot:

HDHD2_HUMAN :
  • Belongs to the HAD-like hydrolase superfamily.
Family:
  • Belongs to the HAD-like hydrolase superfamily.
genes like me logo Genes that share domains with HDHD2: view

Function for HDHD2 Gene

Phenotypes From GWAS Catalog for HDHD2 Gene

Gene Ontology (GO) - Molecular Function for HDHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0016791 phosphatase activity IBA,IEA 21873635
GO:0019899 enzyme binding IPI 22939629
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with HDHD2: view
genes like me logo Genes that share phenotypes with HDHD2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for HDHD2

CRISPR Products

Clone Products

  • Addgene plasmids for HDHD2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HDHD2 Gene

Localization for HDHD2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HDHD2 gene
Compartment Confidence
cytosol 2
cytoskeleton 1
mitochondrion 1
nucleus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HDHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with HDHD2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HDHD2 Gene

Pathways & Interactions for HDHD2 Gene

PathCards logo

SuperPathways for HDHD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HDHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0016311 dephosphorylation IBA,IEA 21873635
genes like me logo Genes that share ontologies with HDHD2: view

No data available for Pathways by source and SIGNOR curated interactions for HDHD2 Gene

Drugs & Compounds for HDHD2 Gene

No Compound Related Data Available

Transcripts for HDHD2 Gene

mRNA/cDNA for HDHD2 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for HDHD2

Alternative Splicing Database (ASD) splice patterns (SP) for HDHD2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7 ^ 8a · 8b
SP1: - - -
SP2: - -
SP3: - -
SP4: -
SP5: -
SP6: - - - -
SP7: - -
SP8: - - - -
SP9:

Relevant External Links for HDHD2 Gene

GeneLoc Exon Structure for
HDHD2

Expression for HDHD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HDHD2 Gene

Protein differential expression in normal tissues from HIPED for HDHD2 Gene

This gene is overexpressed in Brain (6.6) and Lymph node (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HDHD2 Gene



Protein tissue co-expression partners for HDHD2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HDHD2

SOURCE GeneReport for Unigene cluster for HDHD2 Gene:

Hs.465041

Evidence on tissue expression from TISSUES for HDHD2 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with HDHD2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HDHD2 Gene

Orthologs for HDHD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for HDHD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HDHD2 31 30
  • 99.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HDHD2 31 30
  • 93.95 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HDHD2 31 30
  • 92.02 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HDHD2 31
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hdhd2 17 31 30
  • 86.36 (n)
rat
(Rattus norvegicus)
Mammalia Hdhd2 30
  • 84.59 (n)
oppossum
(Monodelphis domestica)
Mammalia HDHD2 31
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves HDHD2 31 30
  • 76.83 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HDHD2 31
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hdhd2 30
  • 66.8 (n)
zebrafish
(Danio rerio)
Actinopterygii hdhd2 31 30
  • 67.57 (n)
OneToOne
Dr.15003 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012227 30
  • 52.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17294 31 30
  • 51.96 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_K08B12.3 30
  • 55.15 (n)
K08B12.3 31
  • 51 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 48 (a)
OneToOne
Species where no ortholog for HDHD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HDHD2 Gene

ENSEMBL:
Gene Tree for HDHD2 (if available)
TreeFam:
Gene Tree for HDHD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HDHD2: view image

Paralogs for HDHD2 Gene

Paralogs for HDHD2 Gene

(1) SIMAP similar genes for HDHD2 Gene using alignment to 6 proteins:

  • HDHD2_HUMAN
  • K7EJQ8_HUMAN
  • K7EKX8_HUMAN
  • K7EMY7_HUMAN
  • K7EQD2_HUMAN
  • K7ER15_HUMAN
genes like me logo Genes that share paralogs with HDHD2: view

Variants for HDHD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HDHD2 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs7230131 - p.Arg85Gln

Additional dbSNP identifiers (rs#s) for HDHD2 Gene

Structural Variations from Database of Genomic Variants (DGV) for HDHD2 Gene

Variant ID Type Subtype PubMed ID
esv3307581 CNV mobile element insertion 20981092
esv3419585 CNV insertion 20981092
esv3642451 CNV gain 21293372
esv3642452 CNV gain 21293372
nsv576819 CNV loss 21841781
nsv833640 CNV loss 17160897
nsv960277 CNV duplication 23825009
nsv9629 CNV gain+loss 18304495

Variation tolerance for HDHD2 Gene

Residual Variation Intolerance Score: 56.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.72; 57.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HDHD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HDHD2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HDHD2 Gene

Disorders for HDHD2 Gene

Additional Disease Information for HDHD2

No disorders were found for HDHD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HDHD2 Gene

Publications for HDHD2 Gene

  1. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 54
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 54

Products for HDHD2 Gene

Sources for HDHD2 Gene