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

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 for HDHD5 Gene

Promoters and enhancers for HDHD5 Gene
GeneHancer (GH) Identifier GH Type GH
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 759.9 +7.6 7584 5.4 ZNF785 SP1 SIX5 ZBTB6 SMARCE1 POLR2A HCFC1 ZNF362 MYC ELF1 HDHD5 HDHD5-AS1 lnc-ADA2-2 TMEM121B LINC01664 IL17RA lnc-TMEM121B-3
GH22J017164 Enhancer 0.3 ENCODE 750.6 +0.4 421 0.1 IKZF1 CTCF HDHD5 HDHD5-AS1
GH22J017627 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 17.9 -463.5 -463514 2.8 GTF3C2 SP1 ZBTB40 SMARCE1 POLR2A USF2 ATF1 FOS CREB1 HCFC1 ATP6V1E1 BCL2L13 lnc-ATP6V1E1-2 HDHD5 TMEM121B ENSG00000236890 piR-38088
GH22J018075 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.8 -912.6 -912579 4.4 ZBTB40 CTCF SIX5 ZBTB6 RBPJ POLR2A CREB1 HCFC1 MIXL1 CC2D1A ENSG00000225335 PEX26 DGCR9 TUBA8 ENSG00000271275 MICAL3 DGCR5 ENSG00000093100 USP18 TMEM121B
GH22J017999 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.8 -835.5 -835533 3.2 GTF3C2 ZBTB40 SP1 CTCF SREBF1 SIX5 ZBTB6 MLX RBPJ POLR2A lnc-PEX26-3 lnc-PEX26-4 MICAL3 E2F6P1 DGCR9 ENSG00000093100 ENSG00000271275 DGCR5 HDHD5-AS1 TMEM121B
- 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
27,777 bases
Minus strand
27,777 bases
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:
    Recommended name:
    Haloacid dehalogenase-like hydrolase domain-containing 5
    Protein Accession:
    Secondary Accessions:
    • B2RCK5
    • Q9BXW8
    • Q9NWA8
    • Q9NX41

    Protein attributes for HDHD5 Gene

    423 amino acids
    Molecular mass:
    46321 Da
    Quaternary structure:
    No Data Available
    • 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


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

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:
  • Cat eye syndrome critical region protein 5 (CECR5_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the HAD-like hydrolase superfamily.
  • 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

CRISPR 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

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
cytosol 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

CRISPR Products

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
ECgene alternative splicing isoforms for

Expression for HDHD5 Gene

NURSA nuclear receptor signaling pathways regulating expression of HDHD5 Gene:


mRNA Expression by UniProt/SwissProt for HDHD5 Gene:

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
(Pan troglodytes)
Mammalia CECR5 33 32
  • 99.45 (n)
(Canis familiaris)
Mammalia CECR5 33 32
  • 84.94 (n)
(Bos Taurus)
Mammalia CECR5 33 32
  • 79.82 (n)
(Mus musculus)
Mammalia Cecr5 33 32
  • 79.79 (n)
Hdhd5 17
(Rattus norvegicus)
Mammalia Cecr5 32
  • 79.63 (n)
(Monodelphis domestica)
Mammalia -- 33
  • 64 (a)
-- 33
  • 60 (a)
(Gallus gallus)
Aves CECR5 33 32
  • 67.66 (n)
(Anolis carolinensis)
Reptilia CECR5 33
  • 56 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cecr5 32
  • 62.81 (n)
(Danio rerio)
Actinopterygii zgc:175154 32
  • 62.22 (n)
CECR5 33
  • 50 (a)
(Caenorhabditis elegans)
Secernentea H32C10.1 33 32
  • 50.64 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR297C 32
  • 47.71 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F16192g 32
  • 43.47 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YKR070W 32
  • 42.29 (n)
-- 33
  • 28 (a)
-- 35
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G45740 32
  • 42.42 (n)
(Oryza sativa)
Liliopsida Os03g0284500 32
  • 44.41 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03173 32
  • 49.95 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11053 33
  • 40 (a)
Cin.3679 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3679 32
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

Gene Tree for HDHD5 (if available)
Gene Tree for HDHD5 (if available)
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 from dbSNP and Humsavar for HDHD5 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000301687 -- 17,153,101(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000311689 -- 17,146,215(-) C/T intron_variant
rs1000392545 -- 17,158,718(-) GGGGG/GGGG 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant
rs1000410784 -- 17,154,807(-) C/T genic_upstream_transcript_variant, 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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Additional Disease Information for HDHD5

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 56
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  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 56
  4. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 56
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56

Products for HDHD5 Gene

Sources for HDHD5 Gene