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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 KBTBD11.

Additional gene information for KLHDC7B Gene

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 KLHDC7B Gene

Genomics for KLHDC7B Gene

GeneHancer (GH) Regulatory Elements for KLHDC7B Gene

Promoters and enhancers for KLHDC7B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22I050626 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 12.6 +80.0 79990 2.4 HDGF ZNF493 ARID4B SIN3A YBX1 GLI4 ZNF2 ZNF280A GLIS2 KLF7 ARSA BRD1 ZBED4 RABL2B ENSG00000272836 TUBGCP6 PLXNB2 ALG12 CHKB LOC105373095
GH22I050783 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 12.5 +235.7 235668 1.4 ATF1 ARID4B SIN3A DMAP1 ZNF48 NCOA2 ELK1 ZNF207 SP3 SP5 RABL2B KLHDC7B RPL23AP82 PIR40958
GH22I050339 Enhancer 0.9 ENCODE 12.5 -207.8 -207809 2.1 HDGF ZNF493 ZNF2 KLF7 ZNF488 ZNF585B GLIS1 MYNN NBN ZNF300 BRD1 RABL2B ALG12 PLXNB2 ENSG00000272836 CHKB TUBGCP6 ZBED4 LMF2 ENSG00000273192
GH22I050536 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 0.8 -4.4 -4367 13.7 HDGF FOXA2 PKNOX1 SMAD1 ARNT ARID4B SIN3A IRF4 YY1 SLC30A9 LOC105373098 TYMP ODF3B ENSG00000272821 CPT1B SCO2 CHKB SYCE3 ARSA TUBGCP6
GH22I050558 Promoter 0.5 EPDnew 0.4 +10.3 10264 0.1 SYCE3 KLHDC7B GC22M050557
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KLHDC7B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KLHDC7B gene promoter:

Genomic Locations for KLHDC7B Gene

Genomic Locations for KLHDC7B Gene
chr22:50,548,033-50,551,023
(GRCh38/hg38)
Size:
2,991 bases
Orientation:
Plus strand
chr22:50,986,462-50,989,452
(GRCh37/hg19)

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

No Post-translational modifications

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

Gene Families for KLHDC7B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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

No data available for UniProtKB/Swiss-Prot for KLHDC7B Gene

Function for KLHDC7B Gene

Phenotypes From GWAS Catalog 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

miRNA for KLHDC7B Gene

miRTarBase miRNAs that target KLHDC7B

Clone 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
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 KLHDC7B gene
Compartment Confidence
nucleus 2
cytosol 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 and Subcellular locations from the Human Protein Atlas (HPA) for KLHDC7B Gene

Pathways & Interactions for KLHDC7B Gene

SuperPathways for KLHDC7B Gene

No Data Available

Interacting Proteins for KLHDC7B Gene

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

Drugs & Compounds for KLHDC7B Gene

No Compound Related Data Available

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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for KLHDC7B Gene

  • Muscle(4)
genes like me logo Genes that share expression patterns with KLHDC7B: view

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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 98.76 (n)
cow
(Bos Taurus)
Mammalia KLHDC7B 33 34
  • 79.43 (n)
oppossum
(Monodelphis domestica)
Mammalia KLHDC7B 34
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhdc7b 33
  • 76.05 (n)
mouse
(Mus musculus)
Mammalia Klhdc7b 33 16 34
  • 75.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KLHDC7B 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhdc7b 33
  • 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

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 Variation AA Info Type
rs1000775439 -- 50,550,655(+) G/A 3_prime_UTR_variant
rs1000841692 -- 50,547,283(+) G/A upstream_transcript_variant
rs1000920445 -- 50,547,504(+) T/C upstream_transcript_variant
rs1001692560 -- 50,548,084(+) G/T 5_prime_UTR_variant
rs1001723562 -- 50,548,443(+) G/C coding_sequence_variant, missense_variant

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

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

Variation tolerance for KLHDC7B Gene

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

Additional Variant Information 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

Additional Disease Information for 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 DS … MGC Project Team (Genome research 2004) 3 4 58
  2. Genome-wide association study of hematological and biochemical traits in a Japanese population. (PMID: 20139978) Kamatani Y … Kamatani N (Nature genetics 2010) 3 58
  3. Hs.137007 is a novel epigenetic marker hypermethylated and up-regulated in breast cancer. (PMID: 20372783) Kim TW … Kim SJ (International journal of oncology 2010) 3 58
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 4 58

Products for KLHDC7B Gene

Sources for KLHDC7B Gene

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