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Aliases for HDHD5 Gene

Aliases for HDHD5 Gene

  • Haloacid Dehalogenase Like Hydrolase Domain Containing 5 2 3 5
  • Cat Eye Syndrome Chromosome Region, Candidate 5 2 3
  • Cat Eye Syndrome Critical Region Protein 5 3 4
  • CECR5 3 4
  • Haloacid Dehalogenase-Like Hydrolase Domain-Containing 5 3

External Ids for HDHD5 Gene

Previous HGNC Symbols for HDHD5 Gene

  • CECR5

Summaries for HDHD5 Gene

GeneCards Summary for HDHD5 Gene

HDHD5 (Haloacid Dehalogenase Like Hydrolase Domain Containing 5) is a Protein Coding gene. Diseases associated with HDHD5 include Cat Eye Syndrome.

Additional gene information for HDHD5 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HDHD5 Gene

Genomics for HDHD5 Gene

GeneHancer (GH) Regulatory Elements for HDHD5 Gene

Promoters and enhancers for HDHD5 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
GH22J017157 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 660 +6.2 6187 2.6 PKNOX1 CLOCK ATF1 SIN3A ZNF2 YY1 ETS1 ZNF766 GLIS2 ZNF207 HDHD5 HDHD5-AS1 TMEM121B LINC01664 GC22P017137
GH22J017164 Enhancer 0.4 ENCODE 650.7 +0.4 421 0.1 CTCF IKZF1 HDHD5 HDHD5-AS1
GH22J017627 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.8 -463.5 -463514 2.6 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 FOS ATP6V1E1 BCL2L13 HDHD5 ENSG00000236890 PIR61133
GH22J017999 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 9.8 -835.5 -835533 3.2 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A ZNF2 YY1 MICAL3 ENSG00000093100 HDHD5-AS1 ENSG00000236890 HDHD5 ENSG00000234913 ENSG00000235445
GH22J017769 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.5 -608.9 -608855 10 HDGF PKNOX1 SMAD1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 BID MICAL3 HDHD5 BCL2L13 CECR2 LINC00528 PIR62667
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HDHD5 on UCSC Golden Path with GeneCards custom track

Genomic Locations for HDHD5 Gene

Genomic Locations for HDHD5 Gene
chr22:17,137,511-17,165,287
(GRCh38/hg38)
Size:
27,777 bases
Orientation:
Minus strand
chr22:17,618,401-17,646,177
(GRCh37/hg19)
Size:
27,777 bases
Orientation:
Minus strand

Genomic View for HDHD5 Gene

Genes around HDHD5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HDHD5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HDHD5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HDHD5 Gene

Proteins for HDHD5 Gene

  • Protein details for HDHD5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXW7-HDHD5_HUMAN
    Recommended name:
    Haloacid dehalogenase-like hydrolase domain-containing 5
    Protein Accession:
    Q9BXW7
    Secondary Accessions:
    • B2RCK5
    • Q9BXW8
    • Q9NWA8
    • Q9NX41

    Protein attributes for HDHD5 Gene

    Size:
    423 amino acids
    Molecular mass:
    46321 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Candidate gene for the Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. Duplication usually takes in the form of a surpernumerary bisatellited isodicentric chromosome, resulting in four copies of the region (represents an inv dup(22)(q11)). CES is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development.

    Alternative splice isoforms for HDHD5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HDHD5 Gene

Post-translational modifications for HDHD5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HDHD5 Gene

Domains & Families for HDHD5 Gene

Gene Families for HDHD5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for HDHD5 Gene

Suggested Antigen Peptide Sequences for HDHD5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BXW7

UniProtKB/Swiss-Prot:

HDHD5_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 HDHD5: view

Function for HDHD5 Gene

Phenotypes From GWAS Catalog for HDHD5 Gene

genes like me logo Genes that share phenotypes with HDHD5: view

Animal Model Products

miRNA for HDHD5 Gene

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HDHD5 Gene

Localization for HDHD5 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 HDHD5 gene
Compartment Confidence
mitochondrion 5
cytosol 2
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HDHD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA --
genes like me logo Genes that share ontologies with HDHD5: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HDHD5 Gene

Pathways & Interactions for HDHD5 Gene

SuperPathways for HDHD5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HDHD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046474 glycerophospholipid biosynthetic process IBA --
genes like me logo Genes that share ontologies with HDHD5: view

No data available for Pathways by source and SIGNOR curated interactions for HDHD5 Gene

Drugs & Compounds for HDHD5 Gene

No Compound Related Data Available

Transcripts for HDHD5 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HDHD5 Gene

No ASD Table

Relevant External Links for HDHD5 Gene

GeneLoc Exon Structure for
HDHD5
ECgene alternative splicing isoforms for
HDHD5

Expression for HDHD5 Gene

NURSA nuclear receptor signaling pathways regulating expression of HDHD5 Gene:

HDHD5

mRNA Expression by UniProt/SwissProt for HDHD5 Gene:

Q9BXW7-HDHD5_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for HDHD5 Gene

  • Nervous system(3.8)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HDHD5 Gene

Orthologs for HDHD5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HDHD5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CECR5 34 33
  • 99.45 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CECR5 34 33
  • 84.94 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CECR5 34 33
  • 79.82 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cecr5 34 33
  • 79.79 (n)
OneToOne
Hdhd5 16
rat
(Rattus norvegicus)
Mammalia Cecr5 33
  • 79.63 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 64 (a)
OneToMany
-- 34
  • 60 (a)
OneToMany
chicken
(Gallus gallus)
Aves CECR5 34 33
  • 67.66 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CECR5 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cecr5 33
  • 62.81 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:175154 33
  • 62.22 (n)
CECR5 34
  • 50 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea H32C10.1 34 33
  • 50.64 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR297C 33
  • 47.71 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F16192g 33
  • 43.47 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YKR070W 33
  • 42.29 (n)
-- 34
  • 28 (a)
OneToOne
-- 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G45740 33
  • 42.42 (n)
rice
(Oryza sativa)
Liliopsida Os03g0284500 33
  • 44.41 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03173 33
  • 49.95 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11053 34
  • 40 (a)
OneToOne
Cin.3679 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3679 33
Species where no ortholog for HDHD5 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HDHD5 Gene

ENSEMBL:
Gene Tree for HDHD5 (if available)
TreeFam:
Gene Tree for HDHD5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HDHD5: view image

Paralogs for HDHD5 Gene

No data available for Paralogs for HDHD5 Gene

Variants for HDHD5 Gene

Sequence variations from dbSNP and Humsavar for HDHD5 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000301687 -- 17,153,101(-) G/C intron_variant
rs1000311689 -- 17,146,215(-) C/T intron_variant
rs1000392545 -- 17,158,718(-) GGGGG/GGGG 5_prime_UTR_variant, intron_variant
rs1000410784 -- 17,154,807(-) C/T intron_variant
rs1000616349 -- 17,146,074(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HDHD5 Gene

Variant ID Type Subtype PubMed ID
esv1006805 CNV deletion 20482838
esv1195567 CNV deletion 17803354
esv29321 CNV gain 19812545
esv3647208 CNV gain 21293372
esv3647209 CNV gain 21293372
nsv1064641 CNV gain 25217958
nsv1067241 CNV loss 25217958
nsv509805 CNV insertion 20534489
nsv526946 CNV loss 19592680
nsv828924 CNV gain 20364138

Variation tolerance for HDHD5 Gene

Residual Variation Intolerance Score: 16.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.20; 76.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HDHD5 Gene

Human Gene Mutation Database (HGMD)
HDHD5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HDHD5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HDHD5 Gene

Disorders for HDHD5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HDHD5 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
cat eye syndrome
  • ces
- elite association - COSMIC cancer census association via MalaCards
Search HDHD5 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with HDHD5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HDHD5 Gene

Publications for HDHD5 Gene

  1. Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. (PMID: 11381032) Footz TK … McDermid HE (Genome research 2001) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. (PMID: 27432908) Li X … Wang W (Molecular & cellular proteomics : MCP 2016) 3 58

Products for HDHD5 Gene

Sources for HDHD5 Gene

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