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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.

Additional gene information for KLHDC2 Gene

No data available for Entrez Gene Summary , CIViC 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
GH14H049860 1.8 FANTOM5 ENCODE dbSUPER 19.7 +94.7 94706 4.6 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZBTB7B KLHDC1 VCPKMT MAP4K5 KLHDC2 NEMF LRR1 POLE2 LINC01588 RHOQP1 RPS29
GH14H050059 2 FANTOM5 Ensembl ENCODE dbSUPER 12.8 +295.5 295464 6.9 HDGF PKNOX1 FOXA2 ARNT ARID4B DMAP1 YY1 ZNF766 ZNF143 ZNF207 VCPKMT LINC01588 POLE2 KLHDC2 RNU6-189P RHOQP1 RPS29 ATP5S ARF6 RPL36AL
GH14H049584 1.1 ENCODE 19.6 -181.8 -181783 4 HDGF ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF207 ZNF143 FOS LRR1 RPL36AL POLE2 KLHDC1 KLHDC2 VCPKMT NEMF MAP4K5 RHOQP1 RPS29
GH14H050665 1.3 ENCODE dbSUPER 13.4 +900.7 900700 5.6 HNRNPUL1 HDGF PKNOX1 ARID4B SIN3A ZNF2 ZNF143 SMARCB1 ZNF592 KAT8 SAV1 KLHDC2 TMX1 KLHDC1 NEMF FRMD6 POLE2 VCPKMT MAP4K5 CDKL1
GH14H050319 1.3 ENCODE dbSUPER 12.4 +553.2 553201 3.5 PKNOX1 ATF1 ARID4B SIN3A FEZF1 ZNF2 TCF12 ELK1 ZNF143 ATF7 ATP5S KLHDC2 NEMF SAV1 MAP4K5 CDKL1 PIR33272 L2HGDH
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000068046 811 2401 PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143

Genomic Locations for KLHDC2 Gene

Genomic Locations for KLHDC2 Gene
chr14:49,767,589-49,786,385
(GRCh38/hg38)
Size:
18,797 bases
Orientation:
Plus strand
chr14:50,234,326-50,249,909
(GRCh37/hg19)

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 isoforms=251 and posLast=117117
  • 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

Gene Families for KLHDC2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KLHDC2 Gene

Suggested Antigen Peptide Sequences for KLHDC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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

CRISPR Products

miRNA for KLHDC2 Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 KLHDC2 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nuclear membrane (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KLHDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0016604 nuclear body 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

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:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for KLHDC2 Gene

  • Nervous system(4.8)
  • Kidney(4.3)
  • Intestine(2.7)
  • Lung(2.6)
  • Bone(2.3)
  • Liver(2.3)
  • Muscle(2.3)
  • Blood(2.2)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with KLHDC2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia KLHDC2 33 34
  • 95.81 (n)
cow
(Bos Taurus)
Mammalia KLHDC2 33 34
  • 94.09 (n)
rat
(Rattus norvegicus)
Mammalia Klhdc2 33
  • 91.79 (n)
mouse
(Mus musculus)
Mammalia Klhdc2 33 16 34
  • 91.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KLHDC2 34
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLHDC2 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHDC2 33 34
  • 79.06 (n)
lizard
(Anolis carolinensis)
Reptilia KLHDC2 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhdc2 33
  • 69.82 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19210 33
zebrafish
(Danio rerio)
Actinopterygii zgc:162310 33
  • 59.49 (n)
KLHDC2 34
  • 50 (a)
OneToOne
Dr.15588 33
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEL2 34
  • 10 (a)
ManyToMany
KEL1 34
  • 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
rs1000063197 -- 49,779,175(+) ATTTG(A/G)AGCAT intron-variant
rs1000163624 -- 49,773,346(+) AAGGC(A/G)GAGCT intron-variant
rs1000322368 -- 49,768,065(+) AGCCT(C/T)GCTTC upstream-variant-2KB, utr-variant-5-prime
rs1000419891 -- 49,785,161(+) TGTTA(A/C)TAAAT intron-variant
rs1000531566 -- 49,772,790(+) CATCT(C/T)TACAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv509533 CNV insertion 20534489
nsv1269 CNV insertion 18451855
esv28926 CNV gain+loss 19812545

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 KT … Jin DY (Molecular and cellular biochemistry 2007) 3 4 22 60
  2. Inhibition of LZIP-mediated transcription through direct interaction with a novel host cell factor-like protein. (PMID: 11384994) Zhou HJ … Jin DY (The Journal of biological chemistry 2001) 2 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. 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 60
  5. Large scale identification of human hepatocellular carcinoma-associated antigens by autoantibodies. (PMID: 12097419) Wang Y … Chen WF (Journal of immunology (Baltimore, Md. : 1950) 2002) 3 4 60

Products for KLHDC2 Gene

Sources for KLHDC2 Gene

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