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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
  • Kelch Domain-Containing Protein 2 3
  • 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 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
GH14F049593 0.8 Ensembl ENCODE 21.4 -170.1 -170069 7.8 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 RPL36AL LRR1 KLHDC2 MAP4K5 MGAT2 KLHDC1 POLE2 VCPKMT RHOQP1 ENSG00000252919
GH14F050017 1.2 Ensembl ENCODE 19.8 +251.1 251140 3.1 PKNOX1 MLX ZFP64 ARID4B SIN3A YY1 CBX5 FOS ZNF202 PPARG VCPKMT KLHDC2 POLE2 RNU6-189P LINC01588 GC14M050001 PDLIM1P1
GH14F050055 1.3 FANTOM5 Ensembl ENCODE 12.8 +293.5 293473 10.9 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 VCPKMT LINC01588 POLE2 KLHDC2 RNU6-189P ATP5S RHOQP1 RPS29 SOS2 ARF6
GH14F049618 1.2 FANTOM5 ENCODE 2.5 -145.4 -145404 6.4 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 RPL36AL LRR1 DNAAF2 RNU6ATAC30P VCPKMT RHOQP1 KLHDC2 NEMF ARF6 RPS29
GH14F050080 1.1 FANTOM5 Ensembl ENCODE 2.5 +317.5 317540 8.9 HDGF TBP PKNOX1 TBL1XR1 WRNIP1 BMI1 ZBTB40 EGR1 ELK1 CBX5 VCPKMT RNU6-189P DNAAF2 ATL1 ATP5S LINC01588 ARF6 KLHDC2 NEMF SOS2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00001456985 1111 3001 PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CBX5

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

Post-translational modifications for KLHDC2 Gene

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

Other Protein References for KLHDC2 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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:0005634 nucleus IDA --
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

Transcripts for KLHDC2 Gene

Unigene Clusters for KLHDC2 Gene

Kelch domain containing 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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, MaxQB, and MOPED for KLHDC2 Gene



Protein tissue co-expression partners for KLHDC2 Gene

NURSA nuclear receptor signaling pathways regulating expression of KLHDC2 Gene:

KLHDC2

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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia KLHDC2 34 35
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia KLHDC2 34 35
  • 95.81 (n)
cow
(Bos Taurus)
Mammalia KLHDC2 34 35
  • 94.09 (n)
rat
(Rattus norvegicus)
Mammalia Klhdc2 34
  • 91.79 (n)
mouse
(Mus musculus)
Mammalia Klhdc2 34 16 35
  • 91.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KLHDC2 35
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLHDC2 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHDC2 34 35
  • 79.06 (n)
lizard
(Anolis carolinensis)
Reptilia KLHDC2 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhdc2 34
  • 69.82 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19210 34
zebrafish
(Danio rerio)
Actinopterygii zgc:162310 34
  • 59.49 (n)
KLHDC2 35
  • 50 (a)
OneToOne
Dr.15588 34
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEL2 35
  • 10 (a)
ManyToMany
KEL1 35
  • 8 (a)
ManyToMany
Species where no ortholog for KLHDC2 was found in the sources mined by GeneCards:
  • 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
rs10143621 -- 49,784,651(+) TTTAC(A/G)TTCAG intron-variant, nc-transcript-variant, reference, synonymous-codon
rs10147659 -- 49,773,322(+) ggcag(A/G)agaat intron-variant
rs10545453 -- 49,769,753(+) CCAAC(-/AT)AGTGA intron-variant
rs10568791 -- 49,769,754(+) caaca(-/TA)gtgaa intron-variant
rs10584257 -- 49,775,636(+) TTTTT(-/TTT)CGGAT 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

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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. 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 4 22 64
  2. 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 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. 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
  5. Large scale identification of human hepatocellular carcinoma- associated antigens by autoantibodies. (PMID: 12097419) Wang Y. … Chen W.-F. (J. Immunol. 2002) 3 4 64

Products for KLHDC2 Gene

Sources for KLHDC2 Gene

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