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Aliases for KLHDC2 Gene

Aliases for KLHDC2 Gene

  • Kelch Domain Containing 2 2 3 5
  • Hepatocellular Carcinoma-Associated Antigen 33 3 4
  • Host Cell Factor-Like Protein 1 3 4
  • Host Cell Factor Homolog LCP 3 4
  • HCLP-1 3 4
  • HClp1 3
  • HCA33 4
  • LCP 3

External Ids for KLHDC2 Gene

Previous GeneCards Identifiers for KLHDC2 Gene

  • GC14P044030
  • GC14P048224
  • GC14P049304
  • GC14P050234
  • GC14P030362

Summaries for KLHDC2 Gene

GeneCards Summary for KLHDC2 Gene

KLHDC2 (Kelch Domain Containing 2) is a Protein Coding gene. Diseases associated with KLHDC2 include osteochondrosis and ischemic bone disease. An important paralog of this gene is KLHDC1.

UniProtKB/Swiss-Prot for KLHDC2 Gene

  • Represses CREB3-mediated transcription by interfering with CREB3-DNA binding.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHDC2 Gene

Genomics for KLHDC2 Gene

Regulatory Elements for KLHDC2 Gene

Enhancers for KLHDC2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KLHDC2 on UCSC Golden Path with GeneCards custom track

Promoters for KLHDC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KLHDC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for KLHDC2 Gene

Chromosome:
14
Start:
49,767,589 bp from pter
End:
49,786,385 bp from pter
Size:
18,797 bases
Orientation:
Plus strand

Genomic View for KLHDC2 Gene

Genes around KLHDC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHDC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHDC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHDC2 Gene

Proteins for KLHDC2 Gene

  • Protein details for KLHDC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2U9-KLDC2_HUMAN
    Recommended name:
    Kelch domain-containing protein 2
    Protein Accession:
    Q9Y2U9
    Secondary Accessions:
    • B3KPF9
    • Q6IAF0
    • Q86TY9

    Protein attributes for KLHDC2 Gene

    Size:
    406 amino acids
    Molecular mass:
    46099 Da
    Quaternary structure:
    • Directly interacts with CREB3, but not with CREB1, ATF4, ATF6, JUN, FOS, CEBPA and herpes simplex virus transactivator VP16.

    Alternative splice isoforms for KLHDC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLHDC2 Gene

Proteomics data for KLHDC2 Gene at MOPED

Post-translational modifications for KLHDC2 Gene

  • Ubiquitination at Lys 51 and Lys 117
  • Modification sites at PhosphoSitePlus

Other Protein References for KLHDC2 Gene

Antibody Products

No data available for DME Specific Peptides for KLHDC2 Gene

Domains & Families for KLHDC2 Gene

Protein Domains for KLHDC2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for KLHDC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2U9

UniProtKB/Swiss-Prot:

KLDC2_HUMAN :
  • Contains 6 Kelch repeats.
Similarity:
  • Contains 6 Kelch repeats.
genes like me logo Genes that share domains with KLHDC2: view

No data available for Gene Families for KLHDC2 Gene

Function for KLHDC2 Gene

Molecular function for KLHDC2 Gene

UniProtKB/Swiss-Prot Function:
Represses CREB3-mediated transcription by interfering with CREB3-DNA binding.
genes like me logo Genes that share phenotypes with KLHDC2: view

Animal Models for KLHDC2 Gene

MGI Knock Outs for KLHDC2:

Animal Model Products

miRNA for KLHDC2 Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KLHDC2 Gene

Localization for KLHDC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHDC2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KLHDC2 Gene COMPARTMENTS Subcellular localization image for KLHDC2 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for KLHDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with KLHDC2: view

Pathways & Interactions for KLHDC2 Gene

SuperPathways for KLHDC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KLHDC2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KLHDC2 Gene

Drugs & Compounds for KLHDC2 Gene

No Compound Related Data Available

Transcripts for KLHDC2 Gene

Unigene Clusters for KLHDC2 Gene

Kelch domain containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KLHDC2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b
SP1: - - - - -
SP2: - - -
SP3: -
SP4:
SP5:
SP6: -

Relevant External Links for KLHDC2 Gene

GeneLoc Exon Structure for
KLHDC2
ECgene alternative splicing isoforms for
KLHDC2

Expression for KLHDC2 Gene

mRNA expression in normal human tissues for KLHDC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KLHDC2 Gene

This gene is overexpressed in Adrenal (47.7) and Placenta (21.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KLHDC2 Gene



SOURCE GeneReport for Unigene cluster for KLHDC2 Gene Hs.509264

mRNA Expression by UniProt/SwissProt for KLHDC2 Gene

Q9Y2U9-KLDC2_HUMAN
Tissue specificity: Widely expressed, with high levels in skeletal muscle, heart, pancreas and liver. Undetectable in peripheral blood leukocytes.
genes like me logo Genes that share expression patterns with KLHDC2: view

Protein tissue co-expression partners for KLHDC2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for KLHDC2 Gene

Orthologs for KLHDC2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KLHDC2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KLHDC2 35
  • 94.09 (n)
  • 96.8 (a)
KLHDC2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHDC2 35
  • 95.81 (n)
  • 98.77 (a)
KLHDC2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klhdc2 35
  • 91.46 (n)
  • 96.8 (a)
Klhdc2 16
Klhdc2 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KLHDC2 35
  • 99.75 (n)
  • 100 (a)
KLHDC2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhdc2 35
  • 91.79 (n)
  • 97.04 (a)
oppossum
(Monodelphis domestica)
Mammalia KLHDC2 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHDC2 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHDC2 35
  • 79.06 (n)
  • 84.98 (a)
KLHDC2 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHDC2 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhdc2 35
  • 69.82 (n)
  • 64.19 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19210 35
zebrafish
(Danio rerio)
Actinopterygii Dr.15588 35
zgc:162310 35
  • 59.49 (n)
  • 55.7 (a)
KLHDC2 36
  • 50 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEL1 36
  • 8 (a)
ManyToMany
KEL2 36
  • 10 (a)
ManyToMany
Species with no ortholog for KLHDC2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for KLHDC2 Gene

ENSEMBL:
Gene Tree for KLHDC2 (if available)
TreeFam:
Gene Tree for KLHDC2 (if available)

Paralogs for KLHDC2 Gene

Paralogs for KLHDC2 Gene

(1) SIMAP similar genes for KLHDC2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KLHDC2: view

Variants for KLHDC2 Gene

Sequence variations from dbSNP and Humsavar for KLHDC2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs8017977 -- 49,768,805(+) CGAGT(A/C)CCCCA intron-variant, upstream-variant-2KB
rs8018698 -- 49,777,439(+) TGTAC(A/G)GCTGT intron-variant
rs8018791 -- 49,769,193(+) ACACC(A/C)CTATT intron-variant
rs8007202 -- 49,775,642(+) TTCGG(A/C/T)TGGGG intron-variant
rs8007678 -- 49,775,823(+) GGTTT(C/T)GCCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KLHDC2 Gene

Variant ID Type Subtype PubMed ID
esv28926 CNV Gain+Loss 19812545
nsv1269 CNV Insertion 18451855
nsv509533 CNV Insertion 20534489
nsv901937 CNV Loss 21882294

Variation tolerance for KLHDC2 Gene

Residual Variation Intolerance Score: 75.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.89; 35.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLHDC2 Gene

HapMap Linkage Disequilibrium report
KLHDC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHDC2 Gene

Disorders for KLHDC2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KLHDC2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
osteochondrosis
  • juvenile osteochondrosis of tibial tubercle
ischemic bone disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KLHDC2

Genetic Association Database (GAD)
KLHDC2
Human Genome Epidemiology (HuGE) Navigator
KLHDC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLHDC2
genes like me logo Genes that share disorders with KLHDC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLHDC2 Gene

Publications for KLHDC2 Gene

  1. Inhibition of LZIP-mediated transcription through direct interaction with a novel host cell factor-like protein. (PMID: 11384994) Zhou H.-J. … Jin D.-Y. (J. Biol. Chem. 2001) 2 3 4 67
  2. Differential subcellular localization and activity of kelch repeat proteins KLHDC1 and KLHDC2. (PMID: 16964437) Chin K.-T. … Jin D.-Y. (Mol. Cell. Biochem. 2007) 3 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. Defining human ERAD networks through an integrative mapping strategy. (PMID: 22119785) Christianson J.C. … Kopito R.R. (Nat. Cell Biol. 2012) 3

Products for KLHDC2 Gene

Sources for KLHDC2 Gene

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