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Aliases for KLHDC4 Gene
Aliases for KLHDC4 Gene
External Ids for KLHDC4 Gene
- HGNC: 25272
- Entrez Gene: 54758
- Ensembl: ENSG00000104731
- UniProtKB: Q8TBB5
Previous GeneCards Identifiers for KLHDC4 Gene
- GC00U916984
- GC16M086298
- GC16M087741
- GC16M073482
Summaries for KLHDC4 Gene
GeneCards Summary for KLHDC4 Gene
KLHDC4 (Kelch Domain Containing 4) is a Protein Coding gene. Diseases associated with KLHDC4 include Huntington Disease-Like 2 and Noonan Syndrome 9. An important paralog of this gene is HCFC1.
Additional gene information for KLHDC4 Gene
- HGNC(25272)
- Entrez Gene(54758)
- Ensembl(ENSG00000104731)
- UniProtKB(Q8TBB5)
- Open Targets Platform(ENSG00000104731)
- Search for KLHDC4 at DataMed
- Search for KLHDC4 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KLHDC4 Gene
Genomics for KLHDC4 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for KLHDC4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around KLHDC4 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KLHDC4
- Top Transcription factor binding sites by QIAGEN in the KLHDC4 gene promoter:
-
- AML1a
- FOXL1
- GCNF
- GCNF-1
- GCNF-2
- Hlf
- POU2F1
- POU2F1a
- SRF
- SRF (504 AA)
Genomic Locations for KLHDC4 Gene
Genomic Locations for KLHDC4 Gene
- chr16:87,693,537-87,765,992
- (GRCh38/hg38)
- Size:
- 72,456 bases
- Orientation:
- Minus strand
- chr16:87,730,091-87,799,598
- (GRCh37/hg19)
- Size:
- 69,508 bases
- Orientation:
- Minus strand
Genomic View for KLHDC4 Gene
Genes around KLHDC4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16q24.2 by HGNC
- 16q24.2 by Entrez Gene
- 16q24.2 by Ensembl
KLHDC4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for KLHDC4 Gene
Proteins for KLHDC4 Gene
-
Protein details for KLHDC4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8TBB5-KLDC4_HUMAN
- Recommended name:
- Kelch domain-containing protein 4
- Protein Accession:
- Q8TBB5
- D3DUN3
- D3DUN4
- D3DUN5
- Q96F29
- Q9BVN3
Protein attributes for KLHDC4 Gene
- Size:
- 520 amino acids
- Molecular mass:
- 57892 Da
- Quaternary structure:
- No Data Available
Protein Expression for KLHDC4 Gene
Post-translational modifications for KLHDC4 Gene
Other Protein References for KLHDC4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for KLHDC4
- Novus Biologicals Antibodies for KLHDC4
- Invitrogen Antibodies for KLHDC4 (AFLGC-KLHDC4)
- antibodies-online: Show 15 available KLHDC4 Antibodies ranked by validation data
-
Biorbyt antibodies for KLHDC4
-
Santa Cruz Biotechnology (SCBT) Antibodies for KLHDC4
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for KLHDC4
- Origene Custom Protein Services for KLHDC4
-
Abcam proteins for KLHDC4
No data available for DME Specific Peptides for KLHDC4 Gene
Domains & Families for KLHDC4 Gene
Gene Families for KLHDC4 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for KLHDC4 Gene
- InterPro:
- Blocks:
-
- Kelch
- ProtoNet:
Suggested Antigen Peptide Sequences for KLHDC4 Gene
- GenScript: Design optimal peptide antigens:
-
- Kelch domain-containing protein 4 (KLDC4_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KLHDC4 Gene
Function for KLHDC4 Gene
Phenotypes From GWAS Catalog for KLHDC4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA,IPI | 21044950 |
Phenotypes for KLHDC4 Gene
- GenomeRNAi human phenotypes for KLHDC4:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KLHDC4 - Select products 50% OFF >
- * KLHDC4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for KLHDC4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KLHDC4
-
Santa Cruz Biotechnology (SCBT) CRISPR for KLHDC4
miRNA for KLHDC4 Gene
- miRTarBase miRNAs that target KLHDC4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KLHDC4
- Browse OriGene Inhibitory RNA Products For KLHDC4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLHDC4
Clone Products
- Applied Biological Materials (abm): Clones for KLHDC4 - Select products 50% OFF >
- * KLHDC4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG209135
- MR209135
- MR209135L3
- MR209135L4
- RC205776
- RC205776L3
- RC205776L4
- RC230128
- RC230128L3
- RC230128L4
- RC230169
- RC230169L3
- RC230169L4
- RG205776
- RG230128
- RG230169
- RR209255
- RR209255L3
- RR209255L4
- MR209135L3V
- MR209135L4V
- RC205776L3V
- RC205776L4V
- RC230128L3V
- RC230128L4V
- RC230169L3V
- RC230169L4V
- RR209255L3V
- RR209255L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for KLHDC4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KLHDC4
Cell Line Products
-
Horizon Cell Lines for KLHDC4
No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHDC4 Gene
Localization for KLHDC4 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 3 |
| cytosol | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 0 |
- Nucleoli (2)
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KLHDC4 Gene
Pathways & Interactions for KLHDC4 Gene
Interacting Proteins for KLHDC4 Gene
Selected Interacting proteins:
Q8TBB5-KLDC4_HUMAN
ENSP00000270583
for KLHDC4 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for KLHDC4
No data available for Pathways by source and SIGNOR curated interactions for KLHDC4 Gene
Transcripts for KLHDC4 Gene
mRNA/cDNA for KLHDC4 Gene
- 5 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 27 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000270583 1924 nts (view in UCSC)
- ENST00000316853 1287 nts (view in UCSC)
- ENST00000347925 1821 nts (view in UCSC)
- ENST00000353170 1663 nts (view in UCSC)
- ENST00000446344 4444 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KLHDC4 - Select products 50% OFF >
- * KLHDC4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for KLHDC4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KLHDC4
-
Santa Cruz Biotechnology (SCBT) CRISPR for KLHDC4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KLHDC4
- Browse OriGene Inhibitory RNA Products For KLHDC4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLHDC4
Clone Products
- Applied Biological Materials (abm): Clones for KLHDC4 - Select products 50% OFF >
- * KLHDC4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG209135
- MR209135
- MR209135L3
- MR209135L4
- RC205776
- RC205776L3
- RC205776L4
- RC230128
- RC230128L3
- RC230128L4
- RC230169
- RC230169L3
- RC230169L4
- RG205776
- RG230128
- RG230169
- RR209255
- RR209255L3
- RR209255L4
- MR209135L3V
- MR209135L4V
- RC205776L3V
- RC205776L4V
- RC230128L3V
- RC230128L4V
- RC230169L3V
- RC230169L4V
- RR209255L3V
- RR209255L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for KLHDC4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KLHDC4
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | · | 7d | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP16: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP18: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP19: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP20: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP21: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP22: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP23: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP24: |
| ExUns: | 11c | · | 11d | · | 11e | ^ | 12 | ^ | 13a | · | 13b | · | 13c | · | 13d | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | · | 16c | ^ | 17a | · | 17b | ^ | 18 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||
| SP3: | - | - | - | - | |||||||||||||||||||||||||||
| SP4: | - | - | - | - | |||||||||||||||||||||||||||
| SP5: | - | - | - | ||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||
| SP7: | - | - | |||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||
| SP11: | - | - | |||||||||||||||||||||||||||||
| SP12: | - | - | - | - | |||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||||||
| SP14: | |||||||||||||||||||||||||||||||
| SP15: | - | ||||||||||||||||||||||||||||||
| SP16: | - | - | - | - | |||||||||||||||||||||||||||
| SP17: | |||||||||||||||||||||||||||||||
| SP18: | |||||||||||||||||||||||||||||||
| SP19: | |||||||||||||||||||||||||||||||
| SP20: | |||||||||||||||||||||||||||||||
| SP21: | |||||||||||||||||||||||||||||||
| SP22: | |||||||||||||||||||||||||||||||
| SP23: | |||||||||||||||||||||||||||||||
| SP24: | - | - |
Relevant External Links for KLHDC4 Gene
- GeneLoc Exon Structure for
- KLHDC4
Expression for KLHDC4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Metanephric Mesenchyme Cells Metanephric Mesenchyme
This gene is overexpressed in Frontal cortex (41.1) and Lung (9.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KLHDC4 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KLHDC4
SOURCE GeneReport for Unigene cluster for KLHDC4 Gene:
Hs.123450Evidence on tissue expression from TISSUES for KLHDC4 Gene
- Nervous system(3.1)
Primer Products
-
OriGene qPCR primer pairs for KLHDC4
Gene Expression Assay Products
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 KLHDC4 Gene
Orthologs for KLHDC4 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | KLHDC4 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | KLHDC4 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | KLHDC4 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Klhdc4 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | KLHDC4 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | KLHDC4 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | KLHDC4 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | KLHDC4 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | klhdc4 30 |
|
||
| LOC394683 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC53395 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | klhdc4 30 31 |
|
OneToOne | |
| wufb95f04 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005007 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG4069 30 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | KEL3 31 33 |
|
OneToOne | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G50310 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os04g0483600 30 |
|
- Species where no ortholog for KLHDC4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Rat (Rattus norvegicus)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- 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)
- Worm (Caenorhabditis elegans)
Evolution for KLHDC4 Gene
- ENSEMBL:
- Gene Tree for KLHDC4 (if available)
- TreeFam:
- Gene Tree for KLHDC4 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KLHDC4: view image
Paralogs for KLHDC4 Gene
Paralogs for KLHDC4 Gene
(1) SIMAP similar genes for KLHDC4 Gene using alignment to 8 proteins:
- KLDC4_HUMAN
- H3BP99_HUMAN
- H3BQ90_HUMAN
- H3BQH3_HUMAN
- H3BQL0_HUMAN
- H3BTB1_HUMAN
- H3BUX8_HUMAN
- H3BV82_HUMAN
Pseudogenes.org Pseudogenes for KLHDC4 Gene
Variants for KLHDC4 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KLHDC4 Gene
| SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 717235 | Benign: not provided | 87,696,571(-) | C/G | INTRON_VARIANT | |
| 735959 | Likely Benign: not provided | 87,696,624(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| rs2303771 | - | p.Thr102Ile | |||
| rs2303772 | - | p.Leu56Val | |||
| rs34779002 | - | p.Gly130Val |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv3062n100 | CNV | loss | 25217958 |
| dgv504n67 | CNV | gain | 20364138 |
| esv1006084 | CNV | deletion | 20482838 |
| esv1228666 | CNV | deletion | 17803354 |
| esv1374631 | CNV | deletion | 17803354 |
| esv1590350 | CNV | deletion | 17803354 |
| esv2657033 | CNV | deletion | 23128226 |
| esv2674128 | CNV | deletion | 23128226 |
| esv2714934 | CNV | deletion | 23290073 |
| esv2714935 | CNV | deletion | 23290073 |
| esv2761934 | CNV | loss | 21179565 |
| esv28345 | CNV | gain+loss | 19812545 |
| esv3639524 | CNV | loss | 21293372 |
| esv3639525 | CNV | loss | 21293372 |
| esv3639526 | CNV | gain | 21293372 |
| esv3639527 | CNV | loss | 21293372 |
| esv3822 | CNV | loss | 18987735 |
| esv3892934 | CNV | loss | 25118596 |
| esv993111 | CNV | deletion | 20482838 |
| nsv1061977 | CNV | loss | 25217958 |
| nsv1062946 | CNV | gain | 25217958 |
| nsv1126439 | CNV | deletion | 24896259 |
| nsv1160441 | CNV | deletion | 26073780 |
| nsv457616 | CNV | gain | 19166990 |
| nsv471945 | CNV | novel sequence insertion | 20440878 |
| nsv573535 | CNV | loss | 21841781 |
| nsv573536 | CNV | gain | 21841781 |
| nsv573537 | CNV | loss | 21841781 |
| nsv573538 | CNV | loss | 21841781 |
| nsv833322 | CNV | loss | 17160897 |
| nsv952065 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
96.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
7.45;
82.01% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KLHDC4 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHDC4 Gene
Disorders for KLHDC4 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| huntington disease-like 2 |
|
|
| noonan syndrome 9 |
|
|
| noonan syndrome 10 |
|
|
Search KLHDC4 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for KLHDC4
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for KLHDC4 Gene
Publications for KLHDC4 Gene
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 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
- LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling. (PMID: 31073040) Choi JH … Beutler B (Science (New York, N.Y.) 2019) 3
- Insights into the ubiquitin-proteasome system of human embryonic stem cells. (PMID: 29511261) Saez I … Vilchez D (Scientific reports 2018) 3
- Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. (PMID: 29513927) Tomkins JE … Manzoni C (Proteomics 2018) 3
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