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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KLHL23 Gene

protein-coding GIFtS: 45
GCID: GC02P170551

Kelch-Like Family Member 23

(Previous name: kelch-like 23 (Drosophila))

1 related disease
at

MalaCards

(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 23¹ ²
Kelch-Like 23 (Drosophila)¹
DITHP²
Kelch-Like 23²
Kelch-Like Protein 23²

External Ids:	HGNC: 27506¹	Entrez Gene: 151230²	Ensembl: ENSG00000213160⁷	UniProtKB: Q8NBE8³

Export aliases for KLHL23 gene to outside databases

Previous GC identifers: GC02P170417 GC02P170260 GC02P162442

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

GeneCards Summary for KLHL23 Gene:

KLHL23 (kelch-like family member 23) is a protein-coding gene. Diseases associated with KLHL23 include cone-rod dystrophy. 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_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KLHL23 gene promoter:
CREB FOXF2 HSF2 FOXO1a IRF-1 POU3F2 (N-Oct-5a) POU3F2 (N-Oct-5b) HNF-3beta POU3F2 FOXL1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KLHL23 promoter sequence

Search SABiosciences Chromatin IP Primers for KLHL23

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHL23

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

Entrez Gene cytogenetic band: 2q31.1 Ensembl cytogenetic band: 2q31.1 HGNC cytogenetic band: 2q31.1

KLHL23 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHL23 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P170551: view genomic region (about GC identifiers)

Start:	170,550,998 bp from pter	End:	170,633,499 bp from pter
Size:	82,502 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: KLH23_HUMAN, Q8NBE8 (See protein sequence)

Recommended Name: Kelch-like protein 23

Size: 558 amino acids; 63923 Da

Sequence caution: Sequence=BAC04490.1; Type=Erroneous initiation;

Secondary accessions: Q8N9B9 Q96FT8

Explore the universe of human proteins at neXtProt for KLHL23: NX_Q8NBE8

Explore proteomics data for KLHL23 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q8NBE8

KLHL23 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_653312.2

ENSEMBL proteins:

ENSP00000474581 ENSP00000272797 ENSP00000475081 ENSP00000376419 ENSP00000394732

ENSP00000400833

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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 Q8NBE8

ProtoNet protein and cluster: Q8NBE8

2 Blocks protein domains:

IPB000210 BTB/POZ domain

IPB011705 BTB/Kelch-associated

UniProtKB/Swiss-Prot: KLH23_HUMAN, Q8NBE8

Similarity: Contains 1 BACK (BTB/Kelch associated) domain

Similarity: Contains 1 BTB (POZ) domain

Similarity: Contains 6 Kelch repeats

KLHL23 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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, 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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--

KLHL23 for ontologies About GeneDecksing

Animal Models:

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		hsa-miR-642a hsa-miR-520d-5p hsa-let-7d hsa-miR-3942-5p hsa-miR-624* hsa-miR-944 hsa-let-7c hsa-miR-3692

		SwitchGear 3'UTR luciferase reporter plasmid: KLHL23 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL23

(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 Central^TM Interacting Genes and Proteins Networks for KLHL23

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

5/6 Interacting proteins for KLHL23 (Q8NBE8^{2, 3} ENSP00000272797⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ANXA1	P04083²^,³	MINT-8247808 I2D: score=2
ANXA7	P20073²^,³	MINT-8248483 I2D: score=2
CDKN1A	P38936²^,³	MINT-8252024 I2D: score=2
TK1	P04183²^,³	MINT-8273653 I2D: score=2
BNIP3L	O60238²^,³, ENSP00000370003⁴	MINT-8249630 I2D: score=2 STRING: ENSP00000370003

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, 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 KLHL23 (KLH23)

Search CenterWatch for drugs/clinical trials and news about KLHL23 / KLH23

(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, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KLHL23 gene:

NM_144711.5

Unigene Cluster for KLHL23:

Kelch-like family member 23

Hs.655150 [show with all ESTs]

Unigene Representative Sequence: NM_001199290

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000498202 ENST00000272797 ENST00000602521 ENST00000392647(uc002ufh.2 uc002ufi.2)

ENST00000437875 ENST00000494387 ENST00000448589

miRNA Products:
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		8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate KLHL23 (see all 29):
		hsa-miR-642a hsa-miR-520d-5p hsa-let-7d hsa-miR-3942-5p hsa-miR-624* hsa-miR-944 hsa-let-7c hsa-miR-3692

		SwitchGear 3'UTR luciferase reporter plasmid: KLHL23 3' UTR sequence

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Additional mRNA sequence:

AK095131.1 AK123454.1 BC010437.1 BC012382.1 BC016950.1

5 DOTS entries:

DT.75139201 DT.422027 DT.95253930 DT.65288454 DT.97822293

24/82 AceView cDNA sequences (see all 82):

AI139809 AA774547 AK090653 AX746559 AA610474 CR602210 BX500650 AI304487

BQ229603 AA348620 AA348884 AW592552 AA883515 BM763772 AI286028 BG106656

BQ879272 AW117330 AI018553 AA918024 BM762290 AI691127 BG029072 BM820383

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

KLHL23 expression in normal human tissues (normalized intensities) KLHL23 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TGGAAGGTAA

About this image

KLHL23 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/3 selected tissues (see all 3) fully expand


Brain (Nervous System) fully expand to see all 14 entries
Thalamus
Olfactory Bulb

Spinal Cord (Nervous System) fully expand to see all 2 entries
Dorsal Horn

Ovary (Reproductive System)
Pre-Granulosa Cells Primordial Follicle

See KLHL23 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KLHL23

SOURCE GeneReport for Unigene cluster: Hs.655150

SABiosciences Custom PCR Arrays for KLHL23

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL23

(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 KLHL23 gene from 4/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Klhl23^{1 , 5}	kelch-like 23 (Drosophila)^{1, 5}	90.2(n)¹ 97.13(a)¹		2 (40.95 cM)⁵ 277396¹ NM_177784.4¹ NP_808452.2¹ 69821944⁵
chicken (Gallus gallus)	Aves	KLHL23¹	kelch-like 23 (Drosophila)	72.7(n) 75.27(a)		429025 XM_426582.2 XP_426582.2
lizard (Anolis carolinensis)	Reptilia	KLHL23⁶	Uncharacterized protein	77(a)	1 ↔ 1	GL343362.1(544684-549131)
zebrafish (Danio rerio)	Actinopterygii	LOC559613¹	kelch-like protein 23-like	64.09(n) 60.61(a)		559613 XM_682971.2 XP_688063.2

ENSEMBL Gene Tree for KLHL23 (if available)
TreeFam Gene Tree for KLHL23 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for KLHL23 gene

PHOSPHO2-KLHL23 KLHL21² KLHL6² KBTBD8² KLHL41² KBTBD12² KBTBD2² KLHL24²

ENC1² KLHL38² KLHL29² KBTBD3² KLHL40² KLHL7² KBTBD7² KLHL30²

KBTBD6² KLHL25² KLHL35²

14 SIMAP similar genes for KLHL23 using alignment to 4 protein entries: KLH23_HUMAN (see all proteins):

KBTBD3 KLHL17 KLHL20 KLHL13 ENC1 KLHL25

KLHL5 KLHL1 KLHL10 KLHL2 KLHL24 KLHL6

KLHL3 KLHL38

KLHL23 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

Structural Variations
Database of Genomic Variants (DGV) 5 variations for KLHL23: About this table

Variant ID	Type	Subtype	PubMed ID
esv2721119	CNV	Deletion	23290073
esv1784706	CNV	Insertion	17803354
esv1586748	CNV	Insertion	17803354
nsv834454	CNV	Loss	17160897
nsv10201	CNV	Loss	18304495

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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

KLHL23 for disorders About GeneDecksing

2 diseases for KLHL23: About MalaCards

cone-rod dystrophy

1 disease from the University of Copenhagen DISEASES database for KLHL23:

cone-rod dystrophy

Export disorders for KLHL23 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 KLHL23 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with KLHL23)

Utopia: connect your pdf to the dynamic
world of online information

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)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)¹ Udeshi N.D....Carr S.A. (2012)
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)
Quantitative analysis of HSP90-client interactions rev eals principles of substrate recognition. (PubMed id 22939624)¹ Taipale M....Lindquist S. (2012)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)¹ Vinayagam A....Wanker E.E. (2011)
Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)¹ Bennett E.J....Harper J.W. (2010)
Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)¹ Sowa M.E....Harper J.W. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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: 151230	HGNC: 27506	AceView: MGC22679	Ensembl:ENSG00000213160	euGenes: HUgn151230
ECgene: KLHL23	H-InvDB: KLHL23

(According to HUGE)
About This Section

(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

Name	Description
PharmGKB entry for KLHL23	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KLHL23 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for KLHL23 gene:
Search GeneIP for patents involving KLHL23

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, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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)
About This Section


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Search Tocris compounds for KLHL23 (KLH23)

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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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

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Category			TGFB1 (GIFtS: 73) transforming growth factor, beta 1
GIFtS Group

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

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes KLHL23 gene at Home site.

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KLHL23 Gene

Kelch-Like Family Member 23

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for KLHL23 gene

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Export list of displayed genes

KLHL23 Gene

Kelch-Like Family Member 23

Aliasesfor KLHL23 gene

Summariesfor KLHL23 gene

Genomic Viewsfor KLHL23 gene

Proteinsfor KLHL23 gene

Protein Domains /Familiesfor KLHL23 gene

Functionfor KLHL23 gene

Pathways & Interactionsfor KLHL23 gene

Drugs & Compoundsfor KLHL23 gene

Transcriptsfor KLHL23 gene

Expression for KLHL23 gene

Orthologsfor KLHL23 gene

Paralogsfor KLHL23 gene

Genomic Variantsfor KLHL23 gene

Disorders / Diseasesfor KLHL23 gene

Publicationsfor KLHL23 gene

External Searches for KLHL23 gene

Genome Databases showing KLHL23 gene

Other Databases showing KLHL23 gene

Specialized Databases showing KLHL23 gene

Intellectual Propertyfor KLHL23 gene

Productsfor KLHL23 gene

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Aliases
for KLHL23 gene

Summaries
for KLHL23 gene

Genomic Views
for KLHL23 gene

Proteins
for KLHL23 gene

Protein Domains /
Families
for KLHL23 gene

Function
for KLHL23 gene

Pathways & Interactions
for KLHL23 gene

Drugs & Compounds
for KLHL23 gene

Transcripts
for KLHL23 gene

Expression
for KLHL23 gene

Orthologs
for KLHL23 gene

Paralogs
for KLHL23 gene

Genomic Variants
for KLHL23 gene

Disorders / Diseases
for KLHL23 gene

Publications
for KLHL23 gene

Intellectual Property
for KLHL23 gene

Products
for KLHL23 gene