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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KLHL30 Gene

protein-coding GIFtS: 38
GCID: GC02P239047

kelch-like family member 30

(Previous name: kelch-like 30 (Drosophila) )

Search for KLHL30
in

MalaCards

our new
Human Malady Compendium

(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 30¹ ²
FLJ43374¹
Kelch-Like 30 (Drosophila)¹
Kelch-Like 30²
Kelch-Like Protein 30²

External Ids:	HGNC: 24770¹	Entrez Gene: 377007²	Ensembl: ENSG00000168427⁷	UniProtKB: Q0D2K2³

Export aliases for KLHL30 gene to outside databases

Previous GC identifers: GC02P238715 GC02P230839

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

(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_000002.11 NC_018913.1 NT_005120.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KLHL30 gene promoter:
COUP-TF1 COUP Lmo2 HNF-4alpha2 CUTL1 Arnt HNF-4alpha1 PPAR-alpha COUP-TF SEF-1 (1)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KLHL30 promoter sequence

Search SABiosciences Chromatin IP Primers for KLHL30

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHL30

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

Entrez Gene cytogenetic band: 2q37.3 Ensembl cytogenetic band: 2q37.3 HGNC cytogenetic band: 2q37.3

KLHL30 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHL30 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P239047: view genomic region (about GC identifiers)

Start:	239,047,363 bp from pter	End:	239,061,588 bp from pter
Size:	14,226 bases	Orientation:	plus strand

(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: KLH30_HUMAN, Q0D2K2 (See protein sequence)

Recommended Name: Kelch-like protein 30

Size: 578 amino acids; 63976 Da

Sequence caution: Sequence=BAC86148.1; Type=Erroneous termination; Positions=317; Note=Translated as Trp;

Secondary accessions: Q6ZUS1

Explore the universe of human proteins at neXtProt for KLHL30: NX_Q0D2K2

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q0D2K2

KLHL30 Protein expression data from MOPED and PaxDb: --

REFSEQ proteins: NP_940984.3

ENSEMBL proteins:

ENSP00000386389 ENSP00000302386

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

KLHL30 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

IPR013069 BTB_POZ

Graphical View of Domain Structure for InterPro Entry Q0D2K2

ProtoNet protein and cluster: Q0D2K2

1 Blocks protein family: IPB011705 BTB/Kelch-associated

UniProtKB/Swiss-Prot: KLH30_HUMAN, Q0D2K2

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

Similarity: Contains 1 BTB (POZ) domain

Similarity: Contains 6 Kelch repeats

(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

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(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

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for KLHL30

(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

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Search CenterWatch for drugs/clinical trials and news about KLHL30 / KLH30

(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,
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About This Section

REFSEQ mRNAs for KLHL30 gene:

NM_198582.3

Unigene Cluster for KLHL30:

Kelch-like 30 (Drosophila)

Hs.591595 [show with all ESTs]

Unigene Representative Sequence: NM_198582

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

ENST00000409223 ENST00000305959(uc002vxr.2)

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Additional cDNA sequence:

AK125364.1 BC103703.1 BC104749.1 BC105696.1

1 DOTS entry:

DT.86852902

8 AceView cDNA sequences:

BX280405 AK125364 F31784 AW291659 F30828 CO248895 NM_198582 AW450961

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

KLHL30 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAAACCATTT

About this image

KLHL30 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Zeugopod Growth Plate

Bone

Zeugopod Periosteum

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

SOURCE GeneReport for Unigene cluster: Hs.591595

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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 KLHL30 gene from 4/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	KLHL30¹	kelch-like 30 (Drosophila)	75.06(n) 66.73(a)		424851 XM_422662.3 XP_422662.3
lizard (Anolis carolinensis)	Reptilia	KLHL30⁶	--	67(a)	1 ↔ 1	3(35381103-35396075)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.9893²	Transcribed sequence with weak similarity to protein more	72.68(n)		BX700845.1
zebrafish (Danio rerio)	Actinopterygii	klhl30¹	kelch-like 30 (Drosophila)	58.64(n) 56.89(a)		559694 XM_683058.4 XP_688150.3

ENSEMBL Gene Tree for KLHL30 (if available)
TreeFam Gene Tree for KLHL30 (if available)

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

Paralogs for KLHL30 gene

KLHL38² KLHL21² KLHL29² KLHL6² KLHL23² KBTBD3² KLHL11² KLHL24²

KLHL25² KLHL35² ENC1² CCIN²

15 SIMAP similar genes for KLHL30 using alignment to 2 protein entries: KLH30_HUMAN (see all proteins):

KLHL20 KLHL32 KLHL12 IVNS1ABP KBTBD3 BTBD3

KLHL21 KLHL3 KLHL25 KLHL2 ENC1 FLJ00029

KLHL24 KLHL23 KLHL38

KLHL30 for paralogs About GeneDecksing

(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

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs184976500^1,2		--	239045378(+)	`TTATTC/TTTCTG`	1	--	us2k¹		0	--	--	--	--
rs77675827^1,2	F,	--	239045451(+)	`AAAACT/CGCGCC`	1	--	us2k¹		1		WA	118
rs73102323^1,2	C,	--	239045468(+)	`TAGCAG/ATCTCT`	1	--	us2k¹		1		WA	2
rs114604346^1,2	F,	--	239045694(+)	`AGGGGG/AACAGT`	1	--	us2k¹		1		NA	120
rs181534384^1,2		--	239045788(+)	`CAACAA/TGAGGC`	1	--	us2k¹		0	--	--	--	--
rs186235542^1,2		--	239045789(+)	`AACATA/GAGGCT`	1	--	us2k¹		0	--	--	--	--
rs28563908^1,2	C,F,	--	239045808(+)	`AGGCTG/AGGGAA`	1	--	us2k¹ tfbs³		6		NA WA EA	366
rs28418613^1,2	C,F,	--	239045817(+)	`AAAAAC/TCCTGG`	1	--	us2k¹ tfbs³		7		NA WA CSA EA	367
rs149187015^1,2		--	239045837(+)	`GACAC-/GAGCAGGG GAAAGAGCAGGAGCA`	1	--	us2k¹		0	--	--	--	--
rs77294395^1,2	F,	--	239045876(+)	`TGGGCT/CGGGCT`	1	--	us2k¹		1		NA	120

HapMap Linkage Disequilibrium report for KLHL30 (239047363 - 239061588 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 10 variations for KLHL30
10 CNVs: 30110 59574 50428 50430 50426 50429 50425 50424 59573 50427

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(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

(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 KLHL30 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KLHL30)

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)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)² Hillier L.W....Wilson R.K. (2005)
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)

(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: 377007	HGNC: 24770	AceView: FLJ43374	Ensembl:ENSG00000168427	euGenes: HUgn377007
ECgene: KLHL30	H-InvDB: KLHL30

(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 KLHL30	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KLHL30 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for KLHL30 gene:
Search GeneIP for patents involving KLHL30

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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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Category			VWF (GIFTS: 73) von Willebrand factor
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 KLHL30 gene at Home site.

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KLHL30 Gene

kelch-like family member 30

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for KLHL30 gene

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for KLHL30 gene

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for KLHL30 gene

Protein Domains /
Families
for KLHL30 gene

Function
for KLHL30 gene

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Transcripts
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for KLHL30 gene

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for KLHL30 gene

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for KLHL30 gene

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for KLHL30 gene

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Export list of displayed genes

KLHL30 Gene

kelch-like family member 30

Aliasesfor KLHL30 gene

Summariesfor KLHL30 gene

Genomic Viewsfor KLHL30 gene

Proteinsfor KLHL30 gene

Protein Domains /Familiesfor KLHL30 gene

Functionfor KLHL30 gene

Pathways & Interactionsfor KLHL30 gene

Drugs & Compoundsfor KLHL30 gene

Transcriptsfor KLHL30 gene

Expression for KLHL30 gene

Orthologsfor KLHL30 gene

Paralogsfor KLHL30 gene

Genomic Variantsfor KLHL30 gene

Disorders / Diseasesfor KLHL30 gene

Publicationsfor KLHL30 gene

External Searches for KLHL30 gene

Genome Databases showing KLHL30 gene

Other Databases showing KLHL30 gene

Specialized Databases showing KLHL30 gene

Intellectual Propertyfor KLHL30 gene

Productsfor KLHL30 gene

View Random Gene

Aliases
for KLHL30 gene

Summaries
for KLHL30 gene

Genomic Views
for KLHL30 gene

Proteins
for KLHL30 gene

Protein Domains /
Families
for KLHL30 gene

Function
for KLHL30 gene

Pathways & Interactions
for KLHL30 gene

Drugs & Compounds
for KLHL30 gene

Transcripts
for KLHL30 gene

Expression
for KLHL30 gene

Orthologs
for KLHL30 gene

Paralogs
for KLHL30 gene

Genomic Variants
for KLHL30 gene

Disorders / Diseases
for KLHL30 gene

Publications
for KLHL30 gene

Intellectual Property
for KLHL30 gene

Products
for KLHL30 gene