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

KLHL29 Gene

protein-coding   GIFtS: 41
GCID: GC02P023608

Kelch-Like Family Member 29

(Previous names: kelch repeat and BTB (POZ) domain containing 9, kelch-like...)
(Previous symbol: KBTBD9)
  Search for KLHL29
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Kelch-Like Family Member 291 2     Kelch-Like 29 (Drosophila)1
KBTBD91 2 3     Kelch-Like 292
Kelch Repeat And BTB (POZ) Domain Containing 91 2     Kelch-Like Protein 292
Kelch Repeat And BTB Domain-Containing Protein 92 3     KIAA19213

External Ids:    HGNC: 294041   Entrez Gene: 1148182   Ensembl: ENSG000001197717   UniProtKB: Q96CT23   

Export aliases for KLHL29 gene to outside databases

Previous GC identifers: GC02P023460 GC02P023348


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for KLHL29 Gene: 
KLHL29 (kelch-like family member 29) is a protein-coding gene. An important paralog of this gene is KLHL21.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KLHL29 gene promoter:
         TBP   Spz1   NRSF form 1   AP-2gamma   NRSF form 2   Nkx6-1   AP-2beta   STAT3   AP-2alpha   AP-2alphaA   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KLHL29

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHL29


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

Entrez Gene cytogenetic band: 2p24.1   Ensembl cytogenetic band:  2p24.1   HGNC cytogenetic band: 2p23.3

KLHL29 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHL29 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P023608:  view genomic region     (about GC identifiers)

Start:
23,608,088 bp from pter      End:
23,931,483 bp from pter
Size:
323,396 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KLH29_HUMAN, Q96CT2 (See protein sequence)
Recommended Name: Kelch-like protein 29  
Size: 655 amino acids; 71468 Da
Caution: Although the complete sequence is not known with certainty, sequence shown here appears to be the most
probable in accordance with the mouse sequence ortholog
Sequence caution: Sequence=AAH13982.1; Type=Erroneous initiation; Sequence=AAH15667.1; Type=Erroneous initiation;
Sequence=CAD39171.2; Type=Erroneous initiation;
Secondary accessions: Q8N388 Q96BF0 Q96PW7
Alternative splicing: 2 isoforms:  Q96CT2-1   Q96CT2-2   

Explore the universe of human proteins at neXtProt for KLHL29: NX_Q96CT2

Explore proteomics data for KLHL29 at MOPED 

KLHL29 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

KLHL29 Protein Expression

REFSEQ proteins: NP_443152.1  
ENSEMBL proteins: 
 ENSP00000420659   ENSP00000288548  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
BTBD: BTB/POZ domain containing
KLHL: Kelch-like

5/7 InterPro protein domains (see all 7):
 IPR006652 Kelch_1
 IPR011333 BTB/POZ_fold
 IPR017096 Kelch-like_gigaxonin
 IPR015916 Gal_Oxidase_b-propeller
 IPR013069 BTB_POZ

Graphical View of Domain Structure for InterPro Entry Q96CT2

ProtoNet protein and cluster: Q96CT2

3 Blocks protein domains:
IPB000210 BTB/POZ domain
IPB011498 Kelch
IPB011705 BTB/Kelch-associated


UniProtKB/Swiss-Prot: KLH29_HUMAN, Q96CT2
Similarity: Contains 1 BTB (POZ) domain
Similarity: Contains 6 Kelch repeats


KLHL29 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

     Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
KLHL29 for ontologies           About GeneDecksing


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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KLHL29

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
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Browse Tocris compounds for KLHL29 (KLH29)

Search CenterWatch for drugs/clinical trials and news about KLHL29 / KLH29

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KLHL29 gene (2 alternative transcripts): 
NM_025067.1  NM_052920.1  

Unigene Cluster for KLHL29:

Kelch-like family member 29
Hs.130593  [show with all ESTs]
Unigene Representative Sequence: NM_052920
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000486442(uc010ykg.2) ENST00000489446(uc002ref.3) ENST00000288548(uc002reg.3)
ENST00000471654(uc010ykh.2)
miRNA
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Browse SwitchGear 3'UTR luciferase reporter plasmids
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Additional mRNA sequence: 

AK094600.1 AL834515.1 BC013982.1 BC015667.2 BC069271.1 

7 DOTS entries:

DT.211114  DT.91850662  DT.91952086  DT.99975266  DT.425307  DT.75180043  DT.91747473 

1 AceView cDNA sequence:

BX424349 

GeneLoc Exon Structure


(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

KLHL29 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AGGGGCGTGG
KLHL29 Expression
About this image


See KLHL29 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KLHL29

SOURCE GeneReport for Unigene cluster: Hs.130593
    SABiosciences Custom PCR Arrays for KLHL29
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In Situ
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(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 chordates.

Orthologs for KLHL29 gene from 4/10 species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Klhl291 , 5 kelch-like 29 (Drosophila)1, 5 90.32(n)1
97.03(a)1
  12 (2.28 cM)5
2084391  NM_001164493.11  NP_001157965.11 
 50774725 
chicken
(Gallus gallus)
Aves KLHL291 kelch-like 29 (Drosophila) 79.06(n)
85.8(a)
  770342  XM_001233682.2  XP_001233683.2 
lizard
(Anolis carolinensis)
Reptilia KLHL296
kelch-like family member 29
81(a)
1 ↔ 1
1(140532569-140964074)
zebrafish
(Danio rerio)
Actinopterygii LOC1003343141 kelch-like protein 29-like 72.05(n)
74.2(a)
  100334314  XM_002667639.2  XP_002667685.2 


ENSEMBL Gene Tree for KLHL29 (if available)
TreeFam Gene Tree for KLHL29 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for KLHL29 gene
KLHL212  KLHL62  KBTBD82  KLHL412  KBTBD122  KLHL242  KBTBD22  ENC12  
KLHL382  KBTBD32  KLHL232  KLHL402  KLHL72  KBTBD72  KLHL302  KBTBD62  
KLHL252  KLHL352  
18/22 SIMAP similar genes for KLHL29 using alignment to 3 protein entries:     KLH29_HUMAN (see all proteins) (see all similar genes):
FLJ14106    ZBTB7C    KLHL3    BACH2    KLHL24    MYNN
KLHL20    ZBTB21    KLHL18    KLHL21    KLHL7    KLHL12
KLHL2    KLHL25    KLHL38    KLHL32    KLHL17    KLHL28

KLHL29 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

10/6878 SNPs in KLHL29 are shown (see all 6878)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1402446971,2
--23346591(+) ACACAC/TGCCTG 1 -- int10--------
rs342136051,2
C--23500378(+) AAACT-/ACACACACACACACACACA
CACACACACACACACACACAC
ACACA
1 -- int10--------
rs569955851,2
C--23554911(+) GTGAA-/GG    
   
/GGGG
GGGGG
1 -- int11CSA 2
rs1833998411,2
--23606361(+) AAGGAC/GATAGT 1 -- us2k10--------
rs760528991,2
C,F--23606363(+) GGACAT/CAGTAC 1 -- us2k11Minor allele frequency- C:0.03WA 118
rs2018239711,2
C--23606423(+) GGAGC-/TTTTCT 1 -- us2k10--------
rs1418546501,2
C--23606434(+) CCCCT-/CTCCCC 1 -- us2k10--------
rs1865619051,2
--23606477(+) ACCCTC/GTCTTA 1 -- us2k10--------
rs1910232761,2
--23606554(+) CTGTCC/TCCTCC 1 -- us2k10--------
rs1823985851,2
--23606630(+) TGACAC/GTAGTG 1 -- us2k10--------

HapMap Linkage Disequilibrium report for KLHL29 (23608088 - 23858088 bp, first 250kb of KLHL29)

Structural Variations
     Database of Genomic Variants (DGV) 10/15 variations for KLHL29 (see all 15):    About this table     
Variant IDTypeSubtypePubMed ID
esv2719812CNV Deletion23290073
esv1295316CNV Deletion17803354
esv2639907CNV Deletion19546169
esv2552237CNV Deletion19546169
esv2719813CNV Deletion23290073
nsv2639CNV Insertion18451855
nsv873731CNV Loss21882294
nsv455886CNV Loss19166990
nsv214546CNV Loss16902084
nsv873732CNV Loss21882294

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

KLHL29 for disorders           About MalaCards

KLHL29 for disorders           About GeneDecksing

Genetic Association Database (GAD): KLHL29
Human Genome Epidemiology (HuGE) Navigator: KLHL29 (5 documents)

Export disorders for KLHL29 gene to outside databases

(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 KLHL29 gene, integrated from 9 sources (see all 17):
(articles sorted by number of sources associating them with KLHL29)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PubMed id 11572484)1, 2, 3 Nagase T....Ohara O. (2001)
  2. Genome-wide association study of coronary heart disea se and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PubMed id 21347282)1, 4 Lettre G....Boerwinkle E. (2011)
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
  4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
  5. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (2009)
  6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  7. Quantitative analysis of HSP90-client interactions rev eals principles of substrate recognition. (PubMed id 22939624)1 Taipale M....Lindquist S. (2012)
  8. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
  9. Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. (PubMed id 21546767)1 Murea M....Freedman B.I. (2011)
  10. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 114818 HGNC: 29404 AceView: KBTBD9.1 Ensembl:ENSG00000119771 euGenes: HUgn114818
ECgene: KLHL29 H-InvDB: KLHL29

(According to HUGE)
About This Section
HUGE: KIAA1921

(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 KLHL29 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for KLHL29 gene:
Search GeneIP for patents involving KLHL29

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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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(GIFtS: 73)
transforming growth factor, beta 1
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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