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This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this... See more...
Aliases for KLHL12 Gene
Aliases for KLHL12 Gene
External Ids for KLHL12 Gene
- HGNC: 19360
- Entrez Gene: 59349
- Ensembl: ENSG00000117153
- OMIM: 614522
- UniProtKB: Q53G59
Previous GeneCards Identifiers for KLHL12 Gene
- GC01M200149
- GC01M199591
- GC01M201126
- GC01M202860
- GC01M174025
Summaries for KLHL12 Gene
-
This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
GeneCards Summary for KLHL12 Gene
KLHL12 (Kelch Like Family Member 12) is a Protein Coding gene. Diseases associated with KLHL12 include Primary Biliary Cirrhosis and Craniolenticulosutural Dysplasia. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Signaling by GPCR. An important paralog of this gene is KLHL20.
UniProtKB/Swiss-Prot Summary for KLHL12 Gene
-
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a negative regulator of Wnt signaling pathway and ER-Golgi transport (PubMed:22358839, PubMed:27565346). The BCR(KLHL12) complex is involved in ER-Golgi transport by regulating the size of COPII coats, thereby playing a key role in collagen export, which is required for embryonic stem (ES) cells division: BCR(KLHL12) acts by mediating monoubiquitination of SEC31 (SEC31A or SEC31B) (PubMed:22358839, PubMed:27565346). The BCR(KLHL12) complex is also involved in neural crest specification: in response to cytosolic calcium increase, interacts with the heterodimer formed with PEF1 and PDCD6/ALG-2, leading to bridge together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export (PubMed:27716508). As part of the BCR(KLHL12) complex, also acts as a negative regulator of the Wnt signaling pathway by mediating ubiquitination and subsequent proteolysis of DVL3 (PubMed:16547521). The BCR(KLHL12) complex also mediates polyubiquitination of DRD4 and PEF1, without leading to degradation of these proteins (PubMed:18303015, PubMed:20100572, PubMed:27716508).
Additional gene information for KLHL12 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KLHL12 Gene
Genomics for KLHL12 Gene
GeneHancer (GH) Regulatory Elements for KLHL12 Gene
Promoters and enhancers for KLHL12 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 KLHL12 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the KLHL12 gene promoter:
-
- AREB6
- HOXA5
- ITF-2
- Meis-1
- Meis-1a
- Meis-1b
- Msx-1
- NCX
- Tal-1beta
- Zic1
Genomic Locations for KLHL12 Gene
Genomic Locations for KLHL12 Gene
- chr1:202,891,096-202,928,644
- (GRCh38/hg38)
- Size:
- 37,549 bases
- Orientation:
- Minus strand
- chr1:202,860,228-202,897,764
- (GRCh37/hg19)
- Size:
- 37,537 bases
- Orientation:
- Minus strand
Genomic View for KLHL12 Gene
Genes around KLHL12 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q32.1 by HGNC
- 1q32.1 by Entrez Gene
- 1q32.1 by Ensembl
KLHL12 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 KLHL12 Gene
Proteins for KLHL12 Gene
-
Protein details for KLHL12 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q53G59-KLH12_HUMAN
- Recommended name:
- Kelch-like protein 12
- Protein Accession:
- Q53G59
- A6NEN8
- B7Z7B8
- Q9HBX5
Protein attributes for KLHL12 Gene
- Size:
- 568 amino acids
- Molecular mass:
- 63277 Da
- Quaternary structure:
-
- Component of the BCR(KLHL12) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL12 and RBX1 (PubMed:22358839). This complex interacts with DVL3 upon activation of the Wnt signaling pathway by WNT3A (PubMed:16547521). Interacts with DRD4, KLHL2 and SEC31A (PubMed:15383316,PubMed:18303015, PubMed:22358839). Interacts with PEF1 and PDCD6/ALG-2; interaction takes place in response to cytosolic calcium increase and leads to bridge together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B) (PubMed:27716508).
Protein Expression for KLHL12 Gene
Post-translational modifications for KLHL12 Gene
- Ubiquitinated by the SCF(FBXL17) complex, leading to its degradation by the proteaseome: ubiquitination by the SCF(FBXL17) complex takes place when aberrant BTB domain dimers are formed.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for KLHL12 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-KLHL12 Antibody
-
Creative Biolabs
- Mouse Anti-KLHL12 Recombinant Antibody (2G2)
- Mouse Anti-KLHL12 Recombinant Antibody (5C12)
- Mouse Anti-KLHL12 Recombinant Antibody (1D2)
- Mouse Anti-KLHL12 Recombinant Antibody (CBLY1-115)
- Mouse Anti-KLHL12 Recombinant Antibody (1E6)
- Chicken Anti-KLHL12 Polyclonal IgY (BRD-0878MZ)
- Mouse Anti-KLHL12 Recombinant Antibody (4E1)
- Mouse Anti-KLHL12 Recombinant Antibody (4C10)
- Mouse Anti-KLHL12 Recombinant Antibody (13B455)
- Chicken Anti-KLHL12 Polyclonal IgY (BRD-0317MZ)
- Novus Biologicals Antibodies for KLHL12
- Invitrogen Antibodies for KLHL12 (AFLGC-KLHL12)
-
Biorbyt antibodies for KLHL12
-
Santa Cruz Biotechnology (SCBT) Antibodies for KLHL12
Protein Products
- Atlas Antibodies PrEST Antigen KLHL12
-
OriGene Purified Proteins for KLHL12
- Search Origene for MassSpec and Protein Over-expression Lysates for KLHL12
- Origene Custom Protein Services for KLHL12
- antibodies-online: Show 4 available KLHL12 Proteins ranked by validation data
- Compare Top KLHL12 Proteins
-
Quality Products:
-
Abcam proteins for KLHL12
No data available for DME Specific Peptides for KLHL12 Gene
Domains & Families for KLHL12 Gene
Gene Families for KLHL12 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for KLHL12 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for KLHL12 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ56167, highly similar to Kelch-like protein 12 (B7Z7B8_HUMAN)
- CUL3-interacting protein 1 (KLH12_HUMAN)
- cDNA FLJ14350 fis, clone THYRO1001721, weakly similar to RING CANAL PROTEIN (Q9H7R2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q53G59- Domain:
-
- The BTB domain is required for interaction with CUL3.
Function for KLHL12 Gene
Molecular function for KLHL12 Gene
- UniProtKB/Swiss-Prot Function:
- Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a negative regulator of Wnt signaling pathway and ER-Golgi transport (PubMed:22358839, PubMed:27565346). The BCR(KLHL12) complex is involved in ER-Golgi transport by regulating the size of COPII coats, thereby playing a key role in collagen export, which is required for embryonic stem (ES) cells division: BCR(KLHL12) acts by mediating monoubiquitination of SEC31 (SEC31A or SEC31B) (PubMed:22358839, PubMed:27565346). The BCR(KLHL12) complex is also involved in neural crest specification: in response to cytosolic calcium increase, interacts with the heterodimer formed with PEF1 and PDCD6/ALG-2, leading to bridge together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export (PubMed:27716508). As part of the BCR(KLHL12) complex, also acts as a negative regulator of the Wnt signaling pathway by mediating ubiquitination and subsequent proteolysis of DVL3 (PubMed:16547521). The BCR(KLHL12) complex also mediates polyubiquitination of DRD4 and PEF1, without leading to degradation of these proteins (PubMed:18303015, PubMed:20100572, PubMed:27716508).
Phenotypes From GWAS Catalog for KLHL12 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI,IEA | 16189514 |
| GO:0042802 | identical protein binding | IPI | 16189514 |
Phenotypes for KLHL12 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for KLHL12
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KLHL12
- genomics-online: gRNA clones - Search for available KLHL12 gRNA products
- Overview of 113 available KLHL12 gene related products
- Applied Biological Materials (abm): CRISPR Clones for KLHL12 - Select products 50% OFF >
- * KLHL12 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * KLHL12 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for KLHL12
miRNA for KLHL12 Gene
- miRTarBase miRNAs that target KLHL12
-
- hsa-mir-373-3p (MIRT002506)
- hsa-mir-148b-3p (MIRT019284)
- hsa-mir-365a-3p (MIRT044028)
- hsa-mir-28-5p (MIRT050001)
- hsa-mir-3942-3p (MIRT456385)
- hsa-mir-6733-5p (MIRT456386)
- hsa-mir-6739-5p (MIRT456387)
- hsa-mir-3153 (MIRT456388)
- hsa-mir-4668-5p (MIRT456389)
- hsa-mir-3148 (MIRT456390)
- hsa-mir-4518 (MIRT456391)
- hsa-mir-1266-5p (MIRT456392)
- hsa-mir-6754-5p (MIRT456393)
- hsa-mir-4441 (MIRT456394)
- hsa-mir-4270 (MIRT456395)
- hsa-mir-211-3p (MIRT456396)
- hsa-mir-6501-3p (MIRT456397)
- hsa-mir-205-3p (MIRT456398)
- hsa-mir-5584-5p (MIRT456399)
- hsa-mir-6873-5p (MIRT456400)
- hsa-mir-510-5p (MIRT456401)
- hsa-mir-4694-3p (MIRT456402)
- hsa-mir-583 (MIRT456403)
- hsa-mir-4646-3p (MIRT619372)
- hsa-mir-4433b-5p (MIRT619373)
- hsa-mir-627-5p (MIRT619374)
- hsa-mir-6867-3p (MIRT619375)
- hsa-mir-623 (MIRT619376)
- hsa-mir-924 (MIRT619377)
- hsa-mir-6817-3p (MIRT619378)
- hsa-mir-7110-3p (MIRT619379)
- hsa-mir-6845-3p (MIRT619380)
- hsa-mir-4685-3p (MIRT619381)
- hsa-mir-4287 (MIRT619382)
- hsa-mir-7113-3p (MIRT619383)
- hsa-mir-4469 (MIRT619384)
- hsa-mir-6780b-3p (MIRT619385)
- hsa-mir-4780 (MIRT619386)
- hsa-mir-1245b-3p (MIRT619387)
- hsa-mir-5010-3p (MIRT637258)
- hsa-mir-2113 (MIRT637259)
- hsa-mir-6759-5p (MIRT637260)
- hsa-mir-4322 (MIRT637261)
- hsa-mir-6796-5p (MIRT637262)
- hsa-mir-4296 (MIRT637263)
- hsa-mir-4265 (MIRT637264)
- hsa-mir-6873-3p (MIRT637265)
- hsa-mir-6742-5p (MIRT637266)
- hsa-mir-4447 (MIRT637267)
- hsa-mir-4472 (MIRT637268)
- hsa-mir-3151-5p (MIRT637269)
- hsa-mir-491-5p (MIRT637270)
- hsa-mir-6895-3p (MIRT637271)
- hsa-mir-6793-3p (MIRT637272)
- hsa-mir-186-3p (MIRT637273)
- hsa-mir-561-3p (MIRT637274)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for KLHL12
- Browse OriGene Inhibitory RNA Products For KLHL12
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLHL12
- genomics-online: shRNA clones - Search for available KLHL12 shRNA products
- Overview of 113 available KLHL12 gene related products
Clone Products
- Sino Biological Human cDNA Clone for KLHL12
- Addgene plasmids for KLHL12
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KLHL12
- Applied Biological Materials (abm): Clones for KLHL12 - Select products 50% OFF >
- * KLHL12 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * KLHL12 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for KLHL12
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHL12 Gene
Localization for KLHL12 Gene
Subcellular locations from UniProtKB/Swiss-Prot for KLHL12 Gene
- Cytoplasmic vesicle, COPII-coated vesicle.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| cytoskeleton | 4 |
| nucleus | 2 |
| golgi apparatus | 2 |
| endoplasmic reticulum | 1 |
- Vesicles (3)
- Microtubule organizing center (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005815 | microtubule organizing center | IDA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0030127 | COPII vesicle coat | IDA | 27716508 |
| GO:0030134 | COPII-coated ER to Golgi transport vesicle | IEA,IDA | 22358839 |
Pathways & Interactions for KLHL12 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Signaling by Wnt |
.71
|
|
| 2 | CDK-mediated phosphorylation and removal of Cdc6 | ||
| 3 | Signaling by GPCR | ||
| 4 | Misspliced GSK3beta mutants stabilize beta-catenin | ||
Pathways by source for KLHL12 Gene
1 BioSystems pathway for KLHL12 Gene
4 Reactome pathways for KLHL12 Gene
UniProtKB/Swiss-Prot Q53G59-KLH12_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for KLHL12 Gene
Selected Interacting proteins:
Q53G59-KLH12_HUMAN
ENSP00000356230
for KLHL12 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for KLHL12
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006513 | protein monoubiquitination | IDA | 22358839 |
| GO:0006888 | ER to Golgi vesicle-mediated transport | IMP | 27716508 |
| GO:0014029 | neural crest formation | IMP | 27716508 |
| GO:0014032 | neural crest cell development | IMP | 27716508 |
| GO:0016055 | Wnt signaling pathway | IMP | 20970343 |
No data available for SIGNOR curated interactions for KLHL12 Gene
Drugs & Compounds for KLHL12 Gene
No Compound Related Data Available
Transcripts for KLHL12 Gene
mRNA/cDNA for KLHL12 Gene
- (3) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (246) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000367261 3311 bps (ENST00000367261.7)
- ENST00000367259 2257 bps (ENST00000367259.1)
- ENST00000367258 1033 bps (ENST00000367258.1)
CRISPR Products
-
OriGene CRISPR knockouts for KLHL12
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KLHL12
- genomics-online: gRNA clones - Search for available KLHL12 gRNA products
- Overview of 113 available KLHL12 gene related products
- Applied Biological Materials (abm): CRISPR Clones for KLHL12 - Select products 50% OFF >
- * KLHL12 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * KLHL12 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for KLHL12
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for KLHL12
- Browse OriGene Inhibitory RNA Products For KLHL12
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLHL12
- genomics-online: shRNA clones - Search for available KLHL12 shRNA products
- Overview of 113 available KLHL12 gene related products
Clone Products
- Sino Biological Human cDNA Clone for KLHL12
- Addgene plasmids for KLHL12
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KLHL12
- Applied Biological Materials (abm): Clones for KLHL12 - Select products 50% OFF >
- * KLHL12 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * KLHL12 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Expression for KLHL12 Gene
This gene is overexpressed in Neutrophil (56.5) and Fetal ovary (8.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KLHL12 Gene
NURSA nuclear receptor signaling pathways regulating expression of KLHL12 Gene:
KLHL12SOURCE GeneReport for Unigene cluster for KLHL12 Gene:
Hs.706793mRNA Expression by UniProt/SwissProt for KLHL12 Gene:
Q53G59-KLH12_HUMAN
Tissue specificity:
Ubiquitously expressed. Highly expressed in testis and at lower levels in the submandibular salivary gland.
Evidence on tissue expression from TISSUES for KLHL12 Gene
- Thyroid gland(4.2)
- Nervous system(3.7)
Primer Products
-
OriGene qPCR primer pairs for KLHL12
-
OriGene qPCR primer pairs and template standards for KLHL12
- genomics-online: primer clones - Search for available KLHL12 Primer products
- Overview of 113 available KLHL12 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHL12 Gene
Orthologs for KLHL12 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KLHL12 33 32 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | KLHL12 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | KLHL12 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | KLHL12 33 32 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Klhl12 32 |
|
||
| mouse (Mus musculus) |
Mammalia | Klhl12 17 33 32 |
|
||
| cow (Bos Taurus) |
Mammalia | KLHL12 33 32 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | KLHL12 33 |
|
OneToOne | |
| LOC101748977 32 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | KLHL12 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | klhl12 32 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.32296 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | klhl12 33 32 |
|
OneToOne | |
| wufi60g03 32 |
|
- Species where no ortholog for KLHL12 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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 KLHL12 Gene
- ENSEMBL:
- Gene Tree for KLHL12 (if available)
- TreeFam:
- Gene Tree for KLHL12 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KLHL12: view image
Paralogs for KLHL12 Gene
Paralogs for KLHL12 Gene
- KLHL20 5
- KLHL2 5
- KLHL17 5
- KLHL18 5
- KLHL3 5
- KLHL8 5
- KLHL28 5
- KLHL5 5
- KLHL1 5
- KEAP1 5
- KLHL4 5
- IPP 5
- KLHL24 5
- KLHL10 5
- IVNS1ABP 5
- KLHL21 5
- KLHL23 5
- KLHL6 5
- KLHL22 5
- KLHL9 5
- KLHL41 5
- KLHL29 5
- KLHL38 5
- KLHL34 5
- KBTBD12 5
- KLHL7 5
- KLHL13 5
- KLHL35 5
- KLHL26 5
- KBTBD8 5
- KLHL32 5
- KLHL36 5
- KLHL30 5
- KLHL15 5
- KLHL40 5
- GAN 5
- KLHL14 5
- KBTBD2 5
- KBTBD3 5
- CCIN 5
- KLHL31 5
- KBTBD6 5
- KBTBD7 5
- KLHL33 5
- BTBD18 5
- BACH2 5
- KBTBD11 5
- KLHL42 5
- GRIK1-AS2 5
- KBTBD13 5
- KLHDC8B 5
- KLHDC8A 5
- KLHDC7A 5
- KLHDC7B 5
- ENSG00000277971 5
(33) SIMAP similar genes for KLHL12 Gene using alignment to 3 proteins:
- KLH12_HUMAN
- J3QSX3_HUMAN
- Q9H7R2_HUMAN
Pseudogenes.org Pseudogenes for KLHL12 Gene
Variants for KLHL12 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000031395 | -- | 202,898,320(-) | T/C | intron_variant | |
| rs1000236243 | -- | 202,923,488(-) | G/A/C | intron_variant | |
| rs1000531286 | -- | 202,897,990(-) | T/C | intron_variant | |
| rs1000681649 | -- | 202,924,627(-) | A/G | intron_variant | |
| rs1000721342 | -- | 202,909,413(-) | T/C | intron_variant |
Residual Variation Intolerance Score:
11.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.23;
24.58% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KLHL12 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- KLHL12
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL12 Gene
Disorders for KLHL12 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| primary biliary cirrhosis |
|
|
| craniolenticulosutural dysplasia |
|
|
Search KLHL12 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for KLHL12
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for KLHL12 Gene
Publications for KLHL12 Gene
- The KLHL12-Cullin-3 ubiquitin ligase negatively regulates the Wnt-beta-catenin pathway by targeting Dishevelled for degradation. (PMID: 16547521) Angers S … Moon RT (Nature cell biology 2006) 2 3 4 56
- Dimerization quality control ensures neuronal development and survival. (PMID: 30190310) Mena EL … Rape M (Science (New York, N.Y.) 2018) 3 4 56
- Two Distinct Types of E3 Ligases Work in Unison to Regulate Substrate Ubiquitylation. (PMID: 27565346) Scott DC … Schulman BA (Cell 2016) 3 4 56
- Regulation of the CUL3 Ubiquitin Ligase by a Calcium-Dependent Co-adaptor. (PMID: 27716508) McGourty CA … Rape M (Cell 2016) 3 4 56
- A regulator of secretory vesicle size, Kelch-like protein 12, facilitates the secretion of apolipoprotein B100 and very-low-density lipoproteins--brief report. (PMID: 24334870) Butkinaree C … Fisher EA (Arteriosclerosis, thrombosis, and vascular biology 2014) 2 3 56
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