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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
  • CECR5 3 4
  • Haloacid Dehalogenase-Like Hydrolase Domain-Containing 5 3
  • Cat Eye Syndrome Critical Region Protein 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.

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

Regulatory Elements for HDHD5 Gene

Enhancers for HDHD5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G017157 1.2 ENCODE 18.9 +6.2 6188 2.6 CREB3L1 AGO1 YY1 ZNF143 SP3 NFYC GLIS1 NBN NR2C1 KDM1A HDHD5 LINC01664 CECR6 HDHD5-AS1 GC22P017137
GH22G016600 1.4 ENCODE dbSUPER 10.7 +562.5 562490 4.4 HDGF PKNOX1 CREB3L1 ARNT AGO1 SIN3A DMAP1 FEZF1 ZNF2 YY1 HDHD5 TPTEP1 ENSG00000283633 ENSG00000267338
GH22G017999 1.4 ENCODE dbSUPER 9.8 -835.5 -835534 3.2 HDGF PKNOX1 MLX CREB3L1 ARNT WRNIP1 ARID4B SIN3A ZNF2 YY1 MICAL3 ENSG00000093100 HDHD5-AS1 ENSG00000236890 HDHD5 ENSG00000234913 ENSG00000235445
GH22G017627 1.1 ENCODE 9.8 -463.5 -463515 2.6 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 YY1 FOS SP3 ATP6V1E1 HDHD5 ENSG00000236890 BCL2L13 PIR61133
GH22G017170 1.7 FANTOM5 Ensembl ENCODE 5.3 -6.6 -6637 2.3 HDGF CREB3L1 ARNT SIN3A ZNF2 YY1 CBX5 ZNF143 ZNF207 SP3 IL17RA HDHD5 RPL32P5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HDHD5 on UCSC Golden Path with GeneCards custom track

Genomic Location for HDHD5 Gene

Chromosome:
22
Start:
17,137,511 bp from pter
End:
17,165,287 bp from pter
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-CECR5_HUMAN
    Recommended name:
    Cat eye syndrome critical region protein 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

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

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

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

Function for HDHD5 Gene

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

Animal Model Products

miRNA for HDHD5 Gene

Inhibitory RNA Products

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

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

Inhibitory RNA 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
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-CECR5_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for HDHD5 Gene

  • Nervous system(3.8)

Primer Products

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 35 34
  • 99.45 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CECR5 35 34
  • 84.94 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CECR5 35 34
  • 79.82 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cecr5 35 34
  • 79.79 (n)
OneToOne
Hdhd5 16
rat
(Rattus norvegicus)
Mammalia Cecr5 34
  • 79.63 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 64 (a)
OneToMany
-- 35
  • 60 (a)
OneToMany
chicken
(Gallus gallus)
Aves CECR5 35 34
  • 67.66 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CECR5 35
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cecr5 34
  • 62.81 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:175154 34
  • 62.22 (n)
CECR5 35
  • 50 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea H32C10.1 34 35
  • 50.64 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR297C 34
  • 47.71 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F16192g 34
  • 43.47 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YKR070W 34
  • 42.29 (n)
-- 35
  • 28 (a)
OneToOne
-- 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G45740 34
  • 42.42 (n)
rice
(Oryza sativa)
Liliopsida Os03g0284500 34
  • 44.41 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03173 34
  • 49.95 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11053 35
  • 40 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3679 34
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)

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 Sequence Context AA Info Type
rs1000301687 -- 17,153,101(+) CACAG(C/G)CTTAT intron-variant
rs1000311689 -- 17,146,215(+) GCCAT(C/T)TCCTG intron-variant
rs1000392545 -- 17,158,718(+) CACTT(-/G)GGGGC intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000410784 -- 17,154,807(+) TTTTT(C/T)TTTTG intron-variant
rs1000616349 -- 17,146,074(+) GCTTT(C/T)CACTG 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)

Relevant External Links for HDHD5 Gene

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

Relevant External Links for HDHD5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 T.K. … McDermid H.E. (Genome Res. 2001) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 64
  5. The variant Polycomb Repressor Complex 1 component PCGF1 interacts with a pluripotency sub-network that includes DPPA4, a regulator of embryogenesis. (PMID: 26687479) Oliviero G. … Cagney G. (Sci. Rep. 2015) 3 64

Products for HDHD5 Gene

Sources for HDHD5 Gene

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