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Aliases for KLHDC3 Gene

Aliases for KLHDC3 Gene

  • Kelch Domain Containing 3 2 3 5
  • Testis Intracellular Mediator Protein 3 4
  • PEAS 3 4
  • Kelch Domain-Containing Protein 3 3
  • Protein Peas 4
  • DJ20C7.3 3

External Ids for KLHDC3 Gene

Previous GeneCards Identifiers for KLHDC3 Gene

  • GC06P042983
  • GC06P043030
  • GC06P043031
  • GC06P043089
  • GC06P042981
  • GC06P042699

Summaries for KLHDC3 Gene

Entrez Gene Summary for KLHDC3 Gene

  • The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2, a protein involved in the activation of the V(D)J recombination. In mouse, this gene is found to be expressed specifically in testis. Its expression in pachytene spermatocytes is localized to cytoplasma and meiotic chromatin, suggesting that this gene may be involved in meiotic recombination. [provided by RefSeq, Jun 2012]

GeneCards Summary for KLHDC3 Gene

KLHDC3 (Kelch Domain Containing 3) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and Unfolded Protein Response (UPR). Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is HCFC1.

UniProtKB/Swiss-Prot for KLHDC3 Gene

  • May be involved in meiotic recombination process.

Gene Wiki entry for KLHDC3 Gene

Additional gene information for KLHDC3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHDC3 Gene

Genomics for KLHDC3 Gene

GeneHancer (GH) Regulatory Elements for KLHDC3 Gene

Promoters and enhancers for KLHDC3 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
GH06J043011 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.7 720 7 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 MEA1 KLHDC3 CUL7 ABCC10 BICRAL ZNF318 RPL34P14 KLC4 RN7SL403P CUL9
GH06J042928 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.8 -83.3 -83314 5.6 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 CNPY3 GC06M042930 PIR33684 GNMT PEX6 ZNF318 POLH GTPBP2 XPO5 RRP36
GH06J043180 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.3 +168.1 168061 3.2 HDGF PKNOX1 CLOCK MLX ARNT ARID4B SIN3A DMAP1 YBX1 YY1 CUL9 DNPH1 CUL7 POLH ZNF318 XPO5 RPS2P29 POLR1C GTPBP2 RRP36
GH06J042901 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.8 -111.1 -111052 3.3 FOXA2 ARNT ZFP64 ARID4B DMAP1 ZNF2 ZNF48 YY1 SLC30A9 TCF12 LOC105375063 RPL7L1 PEX6 CNPY3 ENSG00000231113 PPP2R5D KLC4 RN7SL403P CUL7 KLHDC3
GH06J043141 Enhancer 1.2 Ensembl ENCODE 10.8 +129.4 129359 3.6 HDGF ARID4B SIN3A ZNF2 E2F8 ZNF143 SP5 MXD4 REST ZNF592 CUL7 DNPH1 KLC4 RN7SL403P KLHDC3 MEA1 PPP2R5D RPL7L1 SRF PIR51341
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLHDC3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KLHDC3 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Egr-2
  • C/EBPalpha
  • CHOP-10
  • Roaz

Genomic Locations for KLHDC3 Gene

Genomic Locations for KLHDC3 Gene
7,196 bases
Plus strand
7,196 bases
Plus strand

Genomic View for KLHDC3 Gene

Genes around KLHDC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHDC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHDC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHDC3 Gene

Proteins for KLHDC3 Gene

  • Protein details for KLHDC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Kelch domain-containing protein 3
    Protein Accession:
    Secondary Accessions:
    • A8K2W9

    Protein attributes for KLHDC3 Gene

    382 amino acids
    Molecular mass:
    43088 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KLHDC3 Gene

Post-translational modifications for KLHDC3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KLHDC3 Gene

No data available for DME Specific Peptides for KLHDC3 Gene

Domains & Families for KLHDC3 Gene

Gene Families for KLHDC3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KLHDC3 Gene


Suggested Antigen Peptide Sequences for KLHDC3 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLHDC3: view

No data available for UniProtKB/Swiss-Prot for KLHDC3 Gene

Function for KLHDC3 Gene

Molecular function for KLHDC3 Gene

UniProtKB/Swiss-Prot Function:
May be involved in meiotic recombination process.

Phenotypes From GWAS Catalog for KLHDC3 Gene

Gene Ontology (GO) - Molecular Function for KLHDC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IDA 12606021
GO:0005515 protein binding IEA,IPI 12482870
genes like me logo Genes that share ontologies with KLHDC3: view
genes like me logo Genes that share phenotypes with KLHDC3: view

Animal Model Products

miRNA for KLHDC3 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHDC3 Gene

Localization for KLHDC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHDC3 Gene

Cytoplasm. Note=Also found in meiotic chromatin. {ECO:0000250}.

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 KLHDC3 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KLHDC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 12606021
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 12606021
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with KLHDC3: view

Pathways & Interactions for KLHDC3 Gene

genes like me logo Genes that share pathways with KLHDC3: view

Gene Ontology (GO) - Biological Process for KLHDC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007131 reciprocal meiotic recombination NAS 12606021
GO:0036498 IRE1-mediated unfolded protein response TAS --
GO:0051321 meiotic cell cycle IEA --
genes like me logo Genes that share ontologies with KLHDC3: view

No data available for SIGNOR curated interactions for KLHDC3 Gene

Drugs & Compounds for KLHDC3 Gene

No Compound Related Data Available

Transcripts for KLHDC3 Gene

mRNA/cDNA for KLHDC3 Gene

(3) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(29) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KLHDC3 Gene

Kelch domain containing 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLHDC3 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c
SP1: -
SP2: -
SP3: - -
SP4: - -
SP5: - - - - - - - - - - - - - - -
SP6: - - -
SP7: - - - - -
SP8: - - -

Relevant External Links for KLHDC3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KLHDC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLHDC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KLHDC3 Gene

This gene is overexpressed in Testis (37.1) and CD8 Tcells (31.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KLHDC3 Gene

Protein tissue co-expression partners for KLHDC3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KLHDC3 Gene:


SOURCE GeneReport for Unigene cluster for KLHDC3 Gene:


Evidence on tissue expression from TISSUES for KLHDC3 Gene

  • Nervous system(4.9)
  • Lung(4.7)
  • Eye(4.6)
  • Blood(4.3)
  • Intestine(3.2)
  • Kidney(2.9)
  • Muscle(2.7)
  • Heart(2.4)
  • Pancreas(2.4)
genes like me logo Genes that share expression patterns with KLHDC3: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHDC3 Gene

Orthologs for KLHDC3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KLHDC3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KLHDC3 34 33
  • 99.65 (n)
(Canis familiaris)
Mammalia KLHDC3 34 33
  • 94.76 (n)
(Bos Taurus)
Mammalia KLHDC3 34 33
  • 93.63 (n)
(Monodelphis domestica)
Mammalia KLHDC3 34
  • 91 (a)
(Rattus norvegicus)
Mammalia Klhdc3 33
  • 90.84 (n)
(Mus musculus)
Mammalia Klhdc3 16 34 33
  • 90.58 (n)
(Ornithorhynchus anatinus)
Mammalia KLHDC3 34
  • 90 (a)
(Gallus gallus)
Aves KLHDC3 34 33
  • 77.57 (n)
(Anolis carolinensis)
Reptilia KLHDC3 34
  • 87 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia klhdc3 33
  • 71.08 (n)
Str.10302 33
African clawed frog
(Xenopus laevis)
Amphibia klhdc3-prov 33
(Danio rerio)
Actinopterygii klhdc3 34 33
  • 72.74 (n)
Dr.16735 33
fruit fly
(Drosophila melanogaster)
Insecta CG12081 34 33
  • 54.84 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009495 33
  • 50.97 (n)
(Caenorhabditis elegans)
Secernentea F53E4.1 34 33
  • 51.1 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEL2 34
  • 9 (a)
KEL1 34
  • 6 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G18610 33
  • 44.52 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1927 34
  • 52 (a)
Cin.1216 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1216 33
Species where no ortholog for KLHDC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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 KLHDC3 Gene

Gene Tree for KLHDC3 (if available)
Gene Tree for KLHDC3 (if available)
Evolutionary constrained regions (ECRs) for KLHDC3: view image

Paralogs for KLHDC3 Gene

Paralogs for KLHDC3 Gene

genes like me logo Genes that share paralogs with KLHDC3: view

Variants for KLHDC3 Gene

Sequence variations from dbSNP and Humsavar for KLHDC3 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000201066 -- 43,015,228(+) C/T intron_variant
rs1001039061 -- 43,013,797(+) T/A upstream_transcript_variant
rs1001151588 -- 43,013,978(+) A/C upstream_transcript_variant
rs1001268356 -- 43,014,282(+) C/T 5_prime_UTR_variant, non_coding_transcript_variant
rs1001475564 -- 43,021,236(+) C/T 3_prime_UTR_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KLHDC3 Gene

Variant ID Type Subtype PubMed ID
dgv10640n54 CNV loss 21841781
nsv1017398 CNV gain 25217958
nsv1074927 CNV deletion 25765185
nsv462927 CNV loss 19166990
nsv462930 CNV loss 19166990
nsv602992 CNV loss 21841781

Variation tolerance for KLHDC3 Gene

Residual Variation Intolerance Score: 15.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.26; 5.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLHDC3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHDC3 Gene

Disorders for KLHDC3 Gene

Additional Disease Information for KLHDC3

No disorders were found for KLHDC3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KLHDC3 Gene

Publications for KLHDC3 Gene

  1. A novel testis-specific RAG2-like protein, Peas: its expression in pachytene spermatocyte cytoplasm and meiotic chromatin. (PMID: 12606021) Ohinata Y … Mitsui Y (FEBS letters 2003) 2 3 4 22 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
  5. Male-enhanced antigen-1 gene flanked by two overlapping genes is expressed in late spermatogenesis. (PMID: 12444059) Ohinata Y … Mitsui Y (Biology of reproduction 2002) 2 3 58

Products for KLHDC3 Gene

Sources for KLHDC3 Gene

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