Aliases for HDHD5 Gene

Aliases for HDHD5 Gene

  • Haloacid Dehalogenase Like Hydrolase Domain Containing 5 2 3 5
  • Haloacid Dehalogenase-Like Hydrolase Domain-Containing 5 3 4
  • Cat Eye Syndrome Chromosome Region, Candidate 5 2 3
  • Cat Eye Syndrome Critical Region Protein 5 3 4
  • CECR5 3 4
  • HDHD5 5

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. An important paralog of this gene is CRLS1.

Additional gene information for HDHD5 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HDHD5 Gene

Genomics for HDHD5 Gene

GeneHancer (GH) Regulatory Elements Pubs

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 CraniofacialAtlas 610 +7.6 7584 5.4 SP1 PRDM10 SIX5 IKZF1 KDM1A ZNF692 BACH1 TARDBP LARP7 PRDM1 HDHD5 HDHD5-AS1 lnc-ADA2-2 TMEM121B LINC01664 IL17RA lnc-TMEM121B-3
GH22J017164 Enhancer 0.4 ENCODE 600.7 +0.4 421 0.1 CTCF IKZF1 KDM1A RAD21 HDHD5 HDHD5-AS1 TMEM121B
GH22J017769 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.5 -608.9 -608855 10 SP1 HNRNPL GATAD2A PRDM10 IKZF1 NFKBIZ POLR2A BACH1 ETV6 LARP7 BID LINC00528 MICAL3 HDHD5 BCL2L13 CECR2 piR-39622-002
GH22J017115 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.5 +46.4 46416 6.7 SP1 CTCF PRDM10 REST ZNF629 RFX5 KDM1A ZNF692 PRDM1 ZNF143 LINC01664 IL17RA TMEM121B HDHD5 lnc-TMEM121B-1 lnc-CECR2-1
GH22J017170 Promoter/Enhancer 1.7 FANTOM5 ENCODE CraniofacialAtlas 5.3 -6.6 -6637 2.3 HNRNPL GATAD2A CTCF PRDM10 ZNF512 IKZF1 KDM1A ZNF692 BACH1 TARDBP HSALNG0133879 IL17RA HDHD5 HDHD5-AS1 piR-32285-062 ADA2
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HDHD5

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

Protein Domains for HDHD5 Gene

Suggested Antigen Peptide Sequences for HDHD5 Gene

GenScript: Design optimal peptide antigens:
  • Cat eye syndrome critical region protein 5 (CECR5_HUMAN)

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

miRNA for HDHD5 Gene

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 4
cytoskeleton 1
cytosol 1
golgi apparatus 1
extracellular 0
peroxisome 0

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 21873635
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

PathCards logo

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 21873635
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

mRNA/cDNA for HDHD5 Gene

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

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

No ASD Table

Relevant External Links for HDHD5 Gene

GeneLoc Exon Structure for
HDHD5

Expression for HDHD5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(3.9)

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 30 31
  • 99.45 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CECR5 30 31
  • 84.94 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CECR5 30 31
  • 79.82 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cecr5 30 31
  • 79.79 (n)
OneToOne
Hdhd5 17
Rat
(Rattus norvegicus)
Mammalia Cecr5 30
  • 79.63 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 64 (a)
OneToMany
-- 31
  • 60 (a)
OneToMany
Chicken
(Gallus gallus)
Aves CECR5 30 31
  • 67.66 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CECR5 31
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cecr5 30
  • 62.81 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:175154 30
  • 62.22 (n)
CECR5 31
  • 50 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea H32C10.1 30 31
  • 50.64 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR297C 30
  • 47.71 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F16192g 30
  • 43.47 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YKR070W 30
  • 42.29 (n)
-- 31
  • 28 (a)
OneToOne
-- 33
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G45740 30
  • 42.42 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0284500 30
  • 44.41 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU03173 30
  • 49.95 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11053 31
  • 40 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3679 30
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

Paralogs for HDHD5 Gene

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

Variants for HDHD5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HDHD5 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
711763 Benign: not provided 17,141,111(-) C/T MISSENSE_VARIANT
736647 Likely Benign: not provided 17,145,105(-) T/C SYNONYMOUS_VARIANT
781597 Benign: not provided 17,138,186(-) C/G MISSENSE_VARIANT
782633 Likely Benign: not provided 17,138,047(-) G/A MISSENSE_VARIANT
rs16982020 - p.Arg369Ser

Additional dbSNP identifiers (rs#s) for HDHD5 Gene

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: 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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
  4. PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling. (PMID: 31091453) Shami Shah A … Baskin JM (Cell reports 2019) 3
  5. A protein-interaction network of interferon-stimulated genes extends the innate immune system landscape. (PMID: 30833792) Hubel P … Pichlmair A (Nature immunology 2019) 3

Products for HDHD5 Gene

Sources for HDHD5 Gene