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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KLHL3 Gene

protein-coding   GIFtS: 52
GCID: GC05M136953

kelch-like family member 3

(Previous names: kelch (Drosophila)-like 3, kelch-like 3 (Drosophila) )
 Explore 4 diseases affiliated with
KLHL3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KLHL3    

Aliases
for KLHL3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Kelch-Like Family Member 31 2
KIAA11291 3
Kelch (Drosophila)-Like 31
Kelch-Like 3 (Drosophila)1
PHA2D2
Kelch-Like Protein 32

External Ids:    HGNC: 63541   Entrez Gene: 262492   Ensembl: ENSG000001460217   OMIM: 6057755   UniProtKB: Q9UH773   

Export aliases for KLHL3 gene to outside databases

Previous GC identifers: GC05M136828 GC05M137626 GC05M136984 GC05M137029 GC05M136981 GC05M132139


Summaries
for KLHL3 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for KLHL3:
This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a
BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of
bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin
ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian
syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple
transcript variants encoding distinct isoforms. (provided by RefSeq, Mar 2012)

UniProtKB/Swiss-Prot: KLHL3_HUMAN, Q9UH77
Function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of
ion transport in the distal nephron. The BCR(KLHL3) complex may act by mediating ubiquitination of SLC12A3/NCC,
thereby regulating SLC12A3/NCC subcellular location at the cell membrane




Genomic Views
for KLHL3 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_034772.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KLHL3 gene promoter:
         SRF   N-Myc   AML1a   HFH-1   p300   CUTL1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KLHL3 promoter sequence
   Search SABiosciences Chromatin IP Primers for KLHL3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHL3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q31   Ensembl cytogenetic band:  5q31.2   HGNC cytogenetic band: 5q31

KLHL3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHL3 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M136953:  view genomic region     (about GC identifiers)

Start:
 136,953,189 bp from pter      End:
 137,071,779 bp from pter
Size:
 118,591 bases      Orientation:
 minus strand

Proteins
for KLHL3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: KLHL3_HUMAN, Q9UH77 (See protein sequence)
Recommended Name: Kelch-like protein 3  
Size: 587 amino acids; 64970 Da
Subunit: Component of the BCR(KLHL3) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL3 and RBX1
(Probable). Interacts with SLC12A3
Subcellular location: Cytoplasm, cytoskeleton. Cytoplasm, cytosol
Sequence caution: Sequence=AAB97127.1; Type=Erroneous gene model prediction; Sequence=BAA86443.1; Type=Erroneous
initiation; Note=Translation N-terminally shortened;
Secondary accessions: B2RBK7 Q9UH75 Q9UH76 Q9ULU0 Q9Y6V6
Alternative splicing: 3 isoforms:  Q9UH77-1   Q9UH77-2   Q9UH77-3   

Explore the universe of human proteins at neXtProt for KLHL3: NX_Q9UH77

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UH77

    • KLHL3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001244123.1  NP_001244124.1  NP_059111.2  

    ENSEMBL proteins: 
     ENSP00000424828   ENSP00000422099   ENSP00000312397   ENSP00000423585   ENSP00000426173  
     ENSP00000440319   ENSP00000378395  

    Human Recombinant Protein Products: 
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    OriGene Purified Protein: KLHL3
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    Novus Biologicals KLHL3 Proteins
    Novus Biologicals KLHL3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for KLHL3

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IDA--
    GO:0005856cytoskeleton IEA--
    GO:0031463Cul3-RING ubiquitin ligase complex TAS--


    KLHL3 for ontologies           About GeneDecksing



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    Uscn Antibodies for KLHL3
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    Protein Domains /
    Families
    for KLHL3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    KLHL3 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR017096 Kelch-like_gigaxonin
     IPR000210 BTB/POZ-like
     IPR006652 Kelch_1
     IPR011333 BTB/POZ_fold
     IPR015916 Gal_Oxidase_b-propeller

    Graphical View of Domain Structure for InterPro Entry Q9UH77

    ProtoNet protein and cluster: Q9UH77

    2 Blocks protein families:
    IPB000210 BTB/POZ domain
    IPB011705 BTB/Kelch-associated


    UniProtKB/Swiss-Prot: KLHL3_HUMAN, Q9UH77
    Similarity: Contains 1 BACK (BTB/Kelch associated) domain
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 6 Kelch repeats


    Function
    for KLHL3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: KLHL3_HUMAN, Q9UH77
    Function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of
    ion transport in the distal nephron. The BCR(KLHL3) complex may act by mediating ubiquitination of SLC12A3/NCC,
    thereby regulating SLC12A3/NCC subcellular location at the cell membrane

    miRNA
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    8/111 QIAGEN miScript miRNA Assays for microRNAs that regulate KLHL3 (see all 111):
    hsa-miR-323-3p hsa-miR-548j hsa-miR-640 hsa-miR-199a-3p hsa-miR-411 hsa-miR-3921 hsa-miR-149 hsa-miR-3613-3p
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    Gene Editing
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005198structural molecule activity TAS10843806
    GO:0005515protein binding IPI--


    KLHL3 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for KLHL3:
     High actin ratio cells  Increased cell death HMECs cel  Synthetic lethal with c-Myc af 


    Pathways & Interactions
    for KLHL3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    UniProtKB/Swiss-Prot: KLHL3_HUMAN, Q9UH77
    Pathway: Protein modification; protein ubiquitination

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KLHL3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/18 Interacting proteins for KLHL3 (Q9UH773 ENSP000003123974) via UniProtKB, MINT, STRING, and/or I2D (see all 18)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    GNAO1P094713, ENSP000002624934I2D: score=1 STRING: ENSP00000262493
    OPRD1P411433, ENSP000002349614I2D: score=1 STRING: ENSP00000234961
    SYT2Q8N9I03, ENSP000003562364I2D: score=1 STRING: ENSP00000356236
    GNAI1P630963, ENSP000003430274I2D: score=1 STRING: ENSP00000343027
    SYNCRIPO605063, ENSP000003586354I2D: score=1 STRING: ENSP00000358635
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016567protein ubiquitination TAS--
    GO:0070294renal sodium ion absorption IMP--
    GO:0072156distal tubule morphogenesis IMP--


    KLHL3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for KLHL3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KLHL3
    Search CenterWatch for drugs/clinical trials and news about KLHL3 

    Transcripts
    for KLHL3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for KLHL3 gene (3 alternative transcripts): 
    NM_001257194.1  NM_001257195.1  NM_017415.2  

    Unigene Cluster for KLHL3:

    Kelch-like 3 (Drosophila)
    Hs.655084  [show with all ESTs]
    Unigene Representative Sequence: NM_001257194
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000506491(uc011cyc.2 uc003lbr.4 uc011cyd.2 uc010jen.1)
    ENST00000508657 ENST00000309755(uc010jek.3 uc010jem.1) ENST00000509694
    ENST00000447439 ENST00000506873 ENST00000504208 ENST00000502381(uc010jel.1)
    ENST00000505853 ENST00000504496(uc003lbs.1) ENST00000514149 ENST00000515334
    ENST00000510529 ENST00000512977 ENST00000541417 ENST00000394937

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KLHL3
    8/111 QIAGEN miScript miRNA Assays for microRNAs that regulate KLHL3 (see all 111):
    hsa-miR-323-3p hsa-miR-548j hsa-miR-640 hsa-miR-199a-3p hsa-miR-411 hsa-miR-3921 hsa-miR-149 hsa-miR-3613-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KLHL3
    OriGene shRNA RFP: KLHL3
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    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KLHL3

    Additional cDNA sequence: 

    AB032955.1 AF208068.1 AF208069.1 AF208070.1 AK300172.1 AK303916.1 AK310568.1 AK311594.1 
    AK314707.1 BC034035.1 BC045683.1 BX648362.1 

    11 DOTS entries:

    DT.100747092  DT.40110966  DT.99972715  DT.95366078  DT.102837484  DT.99971746  DT.101964815  DT.102837482 
    DT.120815884  DT.91882486  DT.95106212 

    24/77 AceView cDNA sequences (see all 77):

    AA747820 CR625476 AI538174 AA448066 CR605632 CA433348 AI572828 AA461256 
    AL705380 AA449403 AI822124 AI436060 CK005517 BP344606 AL705326 AA460949 
    BQ446837 AI274080 BI670137 AI871245 AW296113 BX508629 BC034035 N81009 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for KLHL3 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21
    SP1:                                      -                             -     -     -                 -                             -                     
    SP2:                    -                 -                             -     -     -                 -                             -                     
    SP3:                                                                    -     -     -                 -                             -                     
    SP4:                    -                 -                             -     -     -                                                                     
    SP5:                                                                                                                                                      


    ECgene alternative splicing isoforms for KLHL3

    Expression
    for KLHL3 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KLHL3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCTAATTTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    KLHL3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)Endothelium
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)
    PureStem™ progenitor W10 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See KLHL3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KLHL3

    SOURCE GeneReport for Unigene cluster: Hs.655084

    UniProtKB/Swiss-Prot: KLHL3_HUMAN, Q9UH77
    Tissue specificity: Widely expressed

        SABiosciences Custom PCR Arrays for KLHL3
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    In Situ
    Assay Products:     
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    Orthologs
    for KLHL3 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for KLHL3 gene from 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Klhl31 , 5 kelch-like 3 (Drosophila)1, 5 87.77(n)1
    97.27(a)1    		   13 (30.92 cM)5
    1005030851  NM_001195075.11  NP_001182004.11 
     580042215 
    chicken
    (Gallus gallus)    		 Aves KLHL31 kelch-like 3 (Drosophila) 81.65(n)
    94.33(a)    		   416303  XM_414621.3  XP_414621.3 
    lizard
    (Anolis carolinensis)    		 Reptilia KLHL36
    		 --
    		 95(a)
    		 1 ↔ 1
    		 2(142472345-142531616)
    zebrafish
    (Danio rerio)    		 Actinopterygii klhl31 kelch-like 3 (Drosophila) 74.04(n)
    81.53(a)    		   568556  XM_691888.3  XP_696980.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta kel1 , 3 oogenesis actin binding3
    kelch1    		 60(a)
    (best of 4)3
    61.79(n)1
    61.01(a)1    		   36D33
    350841  NM_057241.21  NP_476589.41 
    worm
    (Caenorhabditis elegans)    		 Secernentea kel-11 , 3 ring canal protein like3
    Protein KEL-11    		 42(a)
    (best of 3)3
    49.19(n)1
    45.44(a)1    		   II(11688872-11695905)3
    1747911  NM_064095.61  NP_496496.11 


    ENSEMBL Gene Tree for KLHL3 (if available)
    TreeFam Gene Tree for KLHL3 (if available) 

    Paralogs
    for KLHL3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KLHL3 gene
    KLHL172  KLHL182  KLHL202  KLHL52  KLHL122  KEAP12  KLHL282  KLHL42  
    IPP2  KLHL82  KLHL102  KLHL12  KLHL22  
    18/44 SIMAP similar genes for KLHL3 using alignment to 6 protein entries:     KLHL3_HUMAN (see all proteins) (see all similar genes):
    KLHL2    ZBTB7C    BACH2    ZBTB49    KLHL17    KLHL20
    KLHL1    KLHL8    KLHL12    KBTBD8    KLHL5    KLHL18
    BCL6    DKFZp686H07112    DKFZp686P15123    KLHL4    KLHL28    KLHL29

    KLHL3 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for KLHL3
    PGOHUM00000259867


    Genomic Variants
    for KLHL3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1711 NCBI SNPs in KLHL3 are shown (see all 1711)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1994696241,2
    		C,pathogenic137045448(-) GTGCGA/G/TTGTTC 6 M V L mis10--------
    rs349222651,2
    		C,--132228620(+) GAGCA-/CCAGGT 1 -- int11Minor allele frequency- C:0.00NA 2
    rs1885287761,2
    		--136952691(+) TGAAGA/TTAAGT 3 -- ds50010--------
    rs2000149671,2
    		--136952845(+) ATCCA-/CCCCCC 3 -- ds50010--------
    rs7571571,2
    		C,F,O,H,--136953007(+) CCTCAT/CTGAAG 3 -- ds500135Minor allele frequency- C:0.25NA EA MN NS WA 5252
    rs1417016471,2
    		--136953024(+) GTGGGC/TCTGGC 3 -- ds50010--------
    rs37567601,2
    		C,F,A,H,--136953091(+) TAAAAA/TTTTTT 3 -- ds50018Minor allele frequency- T:0.44WA NA CSA EA 367
    rs1813206071,2
    		--136953307(+) CATGTA/GACAAG 3 -- ut310--------
    rs1850103441,2
    		--136953366(+) AGATCA/GAGGAT 3 -- ut310--------
    rs68634141,2
    		C,F,A,H,--136953577(+) GAGGAC/TGGGGG 3 -- ut31 ese39Minor allele frequency- T:0.42WA NA CSA EA 369

    HapMap Linkage Disequilibrium report for KLHL3 (136953189 - 137071779 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 12 variations for KLHL3
         8 CNVs: 6446 39433 43317 99308 23751 44188 62436 23752
         4 Indels: 81054 93251 93252 81055
    Human Gene Mutation Database (HGMD): KLHL3

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    Disorders / Diseases
    for KLHL3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    KLHL3 for disorders           About GeneDecksing

    OMIM gene information: 605775    OMIM disorders: --

    UniProtKB/Swiss-Prot: KLHL3_HUMAN, Q9UH77
  • Defects in KLHL3 are the cause of Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495]. A disorder
    • characterized by severe hypertension, hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and correction
    of physiologic abnormalities by thiazide diuretics. PHA2D inheritance is autosomal dominant or recessive

    4 diseases for KLHL3:    About MalaCards
    pseudohypoaldosteronism    pseudohypoaldosteronism type iid    hypertension    pharyngitis

    2 diseases from the University of Copenhagen DISEASES database for KLHL3:
    Pseudohypoaldosteronism     Liddle syndrome

    Export disorders for KLHL3 gene to outside databases

    Publications
    for KLHL3 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KLHL3 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with KLHL3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of KLHL3, a human homologue of the Drosophila kelch gene. (PubMed id 10843806)1, 2, 3 Lai F.... Le Beau M.M. (2000)
    2. KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron. (PubMed id 22406640)1, 2 Louis-Dit-Picard H.... Jeunemaitre X. (2012)
    3. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. (PubMed id 22266938)1, 2 Boyden L.M.... Lifton R.P. (2012)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)1, 2 Schmutz J.... Rubin E.M. (2004)
    6. Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin ligases. (PubMed id 14528312)1, 2 Furukawa M.... Xiong Y. (2003)
    7. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2 Hirosawa M.... Ohara O. (1999)
    8. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    External Searches for KLHL3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing KLHL3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 26249 HGNC: 6354 AceView: KLHL3 Ensembl:ENSG00000146021 euGenes: HUgn26249
    ECgene: KLHL3 H-InvDB: KLHL3

    Other Databases showing KLHL3 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1129

    Specialized Databases showing KLHL3 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KLHL3 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for KLHL3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for KLHL3 gene:
    Search GeneIP for patents involving KLHL3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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