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Aliases for KLHL30 Gene

Aliases for KLHL30 Gene

  • Kelch Like Family Member 30 2 3 5
  • Kelch-Like 30 (Drosophila) 2

External Ids for KLHL30 Gene

Previous GeneCards Identifiers for KLHL30 Gene

  • GC02P238715
  • GC02P239047
  • GC02P230839

Summaries for KLHL30 Gene

GeneCards Summary for KLHL30 Gene

KLHL30 (Kelch Like Family Member 30) is a Protein Coding gene. An important paralog of this gene is KLHL21.

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 KLHL30 Gene

Genomics for KLHL30 Gene

Regulatory Elements for KLHL30 Gene

Enhancers for KLHL30 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
GH02G238141 1.8 FANTOM5 Ensembl ENCODE dbSUPER 32.2 +4.0 4024 3.4 ELF3 PKNOX1 FOXA2 NFIB MLX KLF17 SIN3A ARID4B DMAP1 ZNF48 KLHL30 SCLY ERFE UBE2F KLHL30-AS1
GH02G238097 1.1 Ensembl ENCODE 16.1 -38.9 -38915 5.1 HNRNPUL1 HDGF PKNOX1 AGO1 DEAF1 RAD21 GLIS2 EGR1 FOS EGR2 ESPNL UBE2F KLHL30 SCLY HES6
GH02G238106 1.5 FANTOM5 Ensembl ENCODE 9.9 -30.8 -30810 3.5 HDGF FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF143 ZNF263 ESPNL SCLY KLHL30 RAMP1
GH02G237963 1.7 FANTOM5 Ensembl ENCODE 8.4 -171.9 -171947 6.2 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 UBE2F SCLY ILKAP RAMP1 ESPNL KLHL30 ASB1 HES6 LRRFIP1 GC02P237968
GH02G238136 1.4 Ensembl ENCODE dbSUPER 9.2 -0.3 -261 3.4 ATF1 THRB RAD21 YY1 ZNF143 SMARCC1 CEBPB REST MEF2D CEBPA KLHL30 ESPNL
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KLHL30 on UCSC Golden Path with GeneCards custom track

Genomic Location for KLHL30 Gene

Chromosome:
2
Start:
238,138,722 bp from pter
End:
238,152,947 bp from pter
Size:
14,226 bases
Orientation:
Plus strand

Genomic View for KLHL30 Gene

Genes around KLHL30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL30 Gene

Proteins for KLHL30 Gene

  • Protein details for KLHL30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0D2K2-KLH30_HUMAN
    Recommended name:
    Kelch-like protein 30
    Protein Accession:
    Q0D2K2
    Secondary Accessions:
    • Q6ZUS1

    Protein attributes for KLHL30 Gene

    Size:
    578 amino acids
    Molecular mass:
    63976 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC86148.1; Type=Erroneous termination; Positions=317; Note=Translated as Trp.; Evidence={ECO:0000305};

neXtProt entry for KLHL30 Gene

Post-translational modifications for KLHL30 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KLHL30 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KLHL30 Gene

Domains & Families for KLHL30 Gene

Gene Families for KLHL30 Gene

Suggested Antigen Peptide Sequences for KLHL30 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLHL30: view

No data available for UniProtKB/Swiss-Prot for KLHL30 Gene

Function for KLHL30 Gene

Gene Ontology (GO) - Molecular Function for KLHL30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
genes like me logo Genes that share ontologies with KLHL30: view

Phenotypes for KLHL30 Gene

MGI mutant phenotypes for KLHL30:
inferred from 1 alleles
GenomeRNAi human phenotypes for KLHL30:
genes like me logo Genes that share phenotypes with KLHL30: view

Animal Models for KLHL30 Gene

MGI Knock Outs for KLHL30:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KLHL30 Gene

Localization for KLHL30 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 KLHL30 gene
Compartment Confidence
mitochondrion 2
extracellular 1
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for KLHL30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031463 Cul3-RING ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with KLHL30: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KLHL30 Gene

Pathways & Interactions for KLHL30 Gene

SuperPathways for KLHL30 Gene

No Data Available

Interacting Proteins for KLHL30 Gene

Gene Ontology (GO) - Biological Process for KLHL30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with KLHL30: view

No data available for Pathways by source and SIGNOR curated interactions for KLHL30 Gene

Drugs & Compounds for KLHL30 Gene

No Compound Related Data Available

Transcripts for KLHL30 Gene

mRNA/cDNA for KLHL30 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KLHL30 Gene

Kelch-like family member 30:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL30 Gene

No ASD Table

Relevant External Links for KLHL30 Gene

GeneLoc Exon Structure for
KLHL30
ECgene alternative splicing isoforms for
KLHL30

Expression for KLHL30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLHL30 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLHL30 Gene

This gene is overexpressed in Muscle - Skeletal (x33.6).

Protein differential expression in normal tissues from HIPED for KLHL30 Gene

This gene is overexpressed in Adipocyte (46.8) and Heart (16.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KLHL30 Gene



Protein tissue co-expression partners for KLHL30 Gene

NURSA nuclear receptor signaling pathways regulating expression of KLHL30 Gene:

KLHL30

SOURCE GeneReport for Unigene cluster for KLHL30 Gene:

Hs.591595
genes like me logo Genes that share expression patterns with KLHL30: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHL30 Gene

Orthologs for KLHL30 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLHL30 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHL30 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHL30 34 35
  • 89.16 (n)
cow
(Bos Taurus)
Mammalia LOC789335 34
  • 87.63 (n)
mouse
(Mus musculus)
Mammalia Klhl30 34 16 35
  • 83.68 (n)
rat
(Rattus norvegicus)
Mammalia Klhl30 34
  • 83.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL30 35
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLHL30 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHL30 34 35
  • 74.68 (n)
lizard
(Anolis carolinensis)
Reptilia KLHL30 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl30 34
  • 62.92 (n)
Str.9893 34
zebrafish
(Danio rerio)
Actinopterygii klhl30 34 35
  • 58.27 (n)
Species where no ortholog for KLHL30 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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 KLHL30 Gene

ENSEMBL:
Gene Tree for KLHL30 (if available)
TreeFam:
Gene Tree for KLHL30 (if available)

Paralogs for KLHL30 Gene

(12) SIMAP similar genes for KLHL30 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KLHL30: view

Variants for KLHL30 Gene

Sequence variations from dbSNP and Humsavar for KLHL30 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000022282 -- 238,144,331(+) TCCCC(C/T)GTATG intron-variant
rs1000322075 -- 238,143,817(+) CGGCT(A/G)GGCAA intron-variant
rs1000366279 -- 238,137,427(+) CTATG(G/T)TTGGG upstream-variant-2KB
rs1000371939 -- 238,150,617(+) GACCT(C/T)CCCAC intron-variant
rs1000503421 -- 238,140,536(+) GCTTG(A/T)GGCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KLHL30 Gene

Variant ID Type Subtype PubMed ID
dgv7348n54 CNV loss 21841781
esv2721753 CNV deletion 23290073
esv2721754 CNV deletion 23290073
esv2721755 CNV deletion 23290073
esv3594755 CNV loss 21293372
nsv1000252 CNV loss 25217958
nsv3231 CNV insertion 18451855
nsv433212 CNV loss 18776910
nsv460147 CNV loss 19166990
nsv470525 CNV loss 18288195
nsv508894 CNV insertion 20534489
nsv517412 CNV loss 19592680
nsv584759 CNV loss 21841781
nsv584760 CNV loss 21841781
nsv819507 CNV gain 19587683
nsv953215 CNV deletion 24416366

Variation tolerance for KLHL30 Gene

Residual Variation Intolerance Score: 99.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.45; 88.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLHL30 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHL30

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL30 Gene

Disorders for KLHL30 Gene

Relevant External Links for KLHL30

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLHL30

No disorders were found for KLHL30 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KLHL30 Gene

Publications for KLHL30 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. 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
  3. Update on the Kelch-like (KLHL) gene family. (PMID: 23676014) Dhanoa B.S. … Friedman J.S. (Hum. Genomics 2013) 3 64
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 4 64
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64

Products for KLHL30 Gene

Sources for KLHL30 Gene

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