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Aliases for KLHDC7B Gene

Aliases for KLHDC7B Gene

  • Kelch Domain Containing 7B 2 3 5

External Ids for KLHDC7B Gene

Previous GeneCards Identifiers for KLHDC7B Gene

  • GC22P049277
  • GC22P049333
  • GC22P050986
  • GC22P033877

Summaries for KLHDC7B Gene

GeneCards Summary for KLHDC7B Gene

KLHDC7B (Kelch Domain Containing 7B) is a Protein Coding gene. An important paralog of this gene is KLHDC7A.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHDC7B Gene

Genomics for KLHDC7B Gene

Regulatory Elements for KLHDC7B Gene

Enhancers for KLHDC7B 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
GH22F050548 0.7 ENCODE 0.8 +0.7 742 1.4 CTCF MAZ POLR2A ZBTB33 EBF1 ENSG00000272821 SYCE3 KLHDC7B
GH22F050561 0.5 Ensembl ENCODE 0.4 +13.6 13623 0.7 KLF1 ZNF837 SP2 KLF8 SYCE3 ENSG00000272821 LMF2 ARSA KLHDC7B
GH22F050563 0.4 ENCODE 0.4 +13.0 13024 0.0 LMF2 SYCE3 KLHDC7B
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KLHDC7B on UCSC Golden Path with GeneCards custom track

Promoters for KLHDC7B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001844542 767 401 CTCF MAZ POLR2A

Genomic Location for KLHDC7B Gene

Chromosome:
22
Start:
50,548,033 bp from pter
End:
50,551,023 bp from pter
Size:
2,991 bases
Orientation:
Plus strand

Genomic View for KLHDC7B Gene

Genes around KLHDC7B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHDC7B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHDC7B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHDC7B Gene

Proteins for KLHDC7B Gene

  • Protein details for KLHDC7B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96G42-KLD7B_HUMAN
    Recommended name:
    Kelch domain-containing protein 7B
    Protein Accession:
    Q96G42

    Protein attributes for KLHDC7B Gene

    Size:
    594 amino acids
    Molecular mass:
    63314 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH09980.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for KLHDC7B Gene

Post-translational modifications for KLHDC7B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KLHDC7B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KLHDC7B Gene

Domains & Families for KLHDC7B Gene

Protein Domains for KLHDC7B Gene

Suggested Antigen Peptide Sequences for KLHDC7B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96G42

UniProtKB/Swiss-Prot:

KLD7B_HUMAN :
  • Contains 5 Kelch repeats.
Similarity:
  • Contains 5 Kelch repeats.
genes like me logo Genes that share domains with KLHDC7B: view

No data available for Gene Families for KLHDC7B Gene

Function for KLHDC7B Gene

Gene Ontology (GO) - Molecular Function for KLHDC7B 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 KLHDC7B: view
genes like me logo Genes that share phenotypes with KLHDC7B: view

Animal Model Products

miRNA for KLHDC7B Gene

miRTarBase miRNAs that target KLHDC7B

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHDC7B Gene

Localization for KLHDC7B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KLHDC7B Gene COMPARTMENTS Subcellular localization image for KLHDC7B gene
Compartment Confidence
cytosol 2
nucleus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KLHDC7B 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 KLHDC7B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KLHDC7B Gene

Pathways & Interactions for KLHDC7B Gene

SuperPathways for KLHDC7B Gene

No Data Available

Gene Ontology (GO) - Biological Process for KLHDC7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with KLHDC7B: view

No data available for Pathways by source and SIGNOR curated interactions for KLHDC7B Gene

Transcripts for KLHDC7B Gene

mRNA/cDNA for KLHDC7B Gene

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

Unigene Clusters for KLHDC7B Gene

Kelch domain containing 7B:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLHDC7B Gene

No ASD Table

Relevant External Links for KLHDC7B Gene

GeneLoc Exon Structure for
KLHDC7B
ECgene alternative splicing isoforms for
KLHDC7B

Expression for KLHDC7B Gene

mRNA expression in normal human tissues for KLHDC7B Gene

mRNA differential expression in normal tissues according to GTEx for KLHDC7B Gene

This gene is overexpressed in Whole Blood (x8.0), Spleen (x6.9), and Kidney - Cortex (x5.6).

NURSA nuclear receptor signaling pathways regulating expression of KLHDC7B Gene:

KLHDC7B

SOURCE GeneReport for Unigene cluster for KLHDC7B Gene:

Hs.137007
genes like me logo Genes that share expression patterns with KLHDC7B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for KLHDC7B Gene

Orthologs for KLHDC7B Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLHDC7B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHDC7B 34
  • 98.76 (n)
cow
(Bos Taurus)
Mammalia KLHDC7B 34 35
  • 79.43 (n)
oppossum
(Monodelphis domestica)
Mammalia KLHDC7B 35
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhdc7b 34
  • 76.05 (n)
mouse
(Mus musculus)
Mammalia Klhdc7b 34 16 35
  • 75.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KLHDC7B 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhdc7b 34
  • 51.97 (n)
Species where no ortholog for KLHDC7B 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • zebrafish (Danio rerio)

Evolution for KLHDC7B Gene

ENSEMBL:
Gene Tree for KLHDC7B (if available)
TreeFam:
Gene Tree for KLHDC7B (if available)

Paralogs for KLHDC7B Gene

(2) SIMAP similar genes for KLHDC7B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KLHDC7B: view

Variants for KLHDC7B Gene

Sequence variations from dbSNP and Humsavar for KLHDC7B Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs111528202 -- 50,546,775(+) TGATC(C/T)ACTTC upstream-variant-2KB
rs114357127 -- 50,550,719(+) TGGAC(A/G)AGACA intron-variant, utr-variant-3-prime
rs115113903 -- 50,546,363(+) ACAGC(C/G)CTGGC upstream-variant-2KB
rs115170030 -- 50,549,712(+) TGACC(A/G/T)GCTCC reference, missense
rs115466691 -- 50,549,609(+) GCCAG(C/T)CACCG reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for KLHDC7B Gene

Variant ID Type Subtype PubMed ID
esv2758852 CNV loss 17122850
nsv1057656 CNV gain 25217958
nsv1160782 CNV deletion 26073780
nsv471224 CNV loss 18288195
nsv589222 CNV gain 21841781
nsv589223 CNV loss 21841781
nsv829340 CNV gain 20364138
nsv834238 CNV loss 17160897
nsv834239 CNV loss 17160897
nsv955202 CNV deletion 24416366

Variation tolerance for KLHDC7B Gene

Gene Damage Index Score: 11.88; 93.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLHDC7B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHDC7B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHDC7B Gene

Disorders for KLHDC7B Gene

Relevant External Links for KLHDC7B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLHDC7B

No disorders were found for KLHDC7B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KLHDC7B Gene

Publications for KLHDC7B Gene

  1. 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
  2. Genome-wide association study of hematological and biochemical traits in a Japanese population. (PMID: 20139978) Kamatani Y. … Kamatani N. (Nat. Genet. 2010) 3 64
  3. Hs.137007 is a novel epigenetic marker hypermethylated and up-regulated in breast cancer. (PMID: 20372783) Kim T.W. … Kim S.J. (Int. J. Oncol. 2010) 3 64
  4. 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
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 4 64

Products for KLHDC7B Gene

Sources for KLHDC7B Gene

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