KLHDC8B Gene
protein-coding GIFtS: 48
GCID: GC03P049209
|
|
kelch domain containing 8B
| |
Aliases
for KLHDC8B gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Kelch Domain Containing 8B1 2 | | MGC350971 | | Kelch Domain-Containing Protein 8B2 |
Export aliases for KLHDC8B gene to outside databasesPrevious GC identifer: GC03P049185 |
Summaries
for KLHDC8B 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 KLHDC8B:
This gene encodes a protein which forms a distinct beta-propeller protein structure of kelch domains allowing forprotein-protein interactions. Mutations in this gene have been associated with Hodgkin lymphoma. (provided by RefSeq,Sep 2010)
|
Genomic Views
for KLHDC8B 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_000003.11 NC_018914.1 NT_022517.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the KLHDC8B gene promoter:
E2F-4 E2F-3a E2F-1 MAZR E2F E2F-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for KLHDC8B
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHDC8B |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3p21.31 Ensembl cytogenetic band: 3p21.31 HGNC cytogenetic band: 3p21.31KLHDC8B Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P049209: view genomic region
(about GC identifiers)
Start:
|
49,209,018 bp from pter |
End:
|
49,213,919 bp from pter |
Size:
|
4,902 bases |
Orientation:
|
plus strand |
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Proteins
for KLHDC8B 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: KLD8B_HUMAN, Q8IXV7 (See
protein sequence)Recommended Name: Kelch domain-containing protein 8B Size: 354 amino acids; 37676 Da
Subcellular location: Cytoplasm. Note=In mitotic cells, concentrates in the midbody of the cytoplasmic bridge linkingdaughter cells as they are about to separate during cytokinesis
Developmental stage: Transcribed predominantly during S phase, translated exclusively during mitosis and cytokinesisand rapidly degraded after cell divisionExplore the universe of human proteins at neXtProt for KLHDC8B: NX_Q8IXV7
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8IXV7
KLHDC8B Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_775817.1
ENSEMBL proteins: ENSP00000327468
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005737 | cytoplasm |
IDA | -- |
KLHDC8B for ontologies About GeneDecksing
KLHDC8B Antibody Products:
Assay Products for KLHDC8B: |
Protein
Domains /
Families
for KLHDC8B gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KLHDC8B for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8IXV7ProtoNet protein and cluster: Q8IXV7 1 Blocks protein family: IPB006651 Kelch repeat signature
UniProtKB/Swiss-Prot: KLD8B_HUMAN, Q8IXV7Similarity: Contains 8 Kelch repeats |
Function
for KLHDC8B 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
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KLHDC8B (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KLHDC8B
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHDC8B |
1 GenomeRNAi human phenotype for KLHDC8B:
|
Pathways & Interactions
for KLHDC8B 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
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KLHDC8B
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
2 Interacting proteins for KLHDC8B (Q8IXV72 ENSP000003274684) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for KLHDC8B 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 Tocris compounds for KLHDC8B
Search CenterWatch for drugs/clinical trials and news about KLHDC8B / KLD8B
|
Transcripts
for KLHDC8B 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 KLHDC8B gene: NM_173546.2 Unigene Cluster for KLHDC8B: Kelch domain containing 8B Hs.13781 [show with all ESTs]Unigene Representative Sequence: NM_1735465 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000332780(uc003cwh.3 uc003cwi.1) ENST00000459846 ENST00000476495
ENST00000471811 ENST00000462582
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KLHDC8B (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KLHDC8B
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: KLHDC8B (NM_173546) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KLHDC8B | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLHDC8B |
Additional cDNA sequence: AK294160.1 AY129011.1 BC013110.2 BC039083.1 6 DOTS entries: DT.413119 DT.95073065 DT.95073067 DT.100792822 DT.100792818 DT.100792820 24/171 AceView cDNA sequences (see all 171): AI671837 BM995365 AI740580 AL562549 T08504 BC039083 AA398041 BU168511 AI741581 BG742019 CA397861 AA291587 N75850 CD515742 BG115244 BU526851 AW593545 BX441438 AI709284 AW513166 CB268927 NM_173546 AI540497 N90056
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for KLHDC8B About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7a | · | 7b |
|---|
|
| SP1: | | | | | | | - | | - | | | | | | - | | | | | | | | - | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | |
| SP3: | | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | - | | | | | | - | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | - | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for KLHDC8B
|
Expression
for KLHDC8B 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
| KLHDC8B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTCTTCAGGG
About this image
See KLHDC8B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KLHDC8B
SOURCE GeneReport for Unigene cluster: Hs.13781
SABiosciences Custom PCR Arrays for KLHDC8B
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KLHDC8B
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KLHDC8B | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KLHDC8B | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KLHDC8B | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHDC8B |
Orthologs
for KLHDC8B 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 KLHDC8B gene from 4/20 species (see all 20) About this table
ENSEMBL Gene Tree for KLHDC8B (if available)
TreeFam Gene Tree for KLHDC8B (if available) |
Paralogs
for KLHDC8B gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for KLHDC8B gene
- IVNS1ABP2 KLHDC8A2
1 SIMAP similar gene for KLHDC8B using alignment to 2 protein entries: KLD8B_HUMAN (see all proteins):KLHDC8A
KLHDC8B for paralogs About GeneDecksing
|
Genomic Variants
for KLHDC8B 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for KLHDC8B (49209018 - 49213919 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for KLHDC8B: --
Human Gene Mutation Database (HGMD): KLHDC8B
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KLHDC8B |
|
Disorders
/ Diseases
for KLHDC8B 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
|
KLHDC8B for disorders About GeneDecksing
OMIM gene information: 613169
OMIM disorders: 236000
UniProtKB/Swiss-Prot: KLD8B_HUMAN, Q8IXV7
Defects in KLHDC8B are a cause of Hodgkin lymphoma (HL) [MIM:236000]. A malignant disease characterized byprogressive enlargement of the lymph nodes, spleen and general lymphoid tissue, and the presence of large, usuallymultinucleate, cells (Reed-Sternberg cells). Reed-Sternberg cells compose only 1-2% of the total tumor cell mass. Theremainder is composed of a variety of reactive, mixed inflammatory cells consisting of lymphocytes, plasma cells,neutrophils, eosinophils and histiocytes. Note=A chromosomal aberration disrupting KLHDC8B has been found in a familywith the nodular sclerosis type of classic Hodgkin lymphoma. Translocation t(2,3)(q11.2;p21.31)
2  diseases for KLHDC8B: About MalaCardshodgkin's lymphoma malaria
1 disease from the University of Copenhagen DISEASES database for KLHDC8B:Hodgkin's lymphoma Export disorders for KLHDC8B gene to outside databases
|
Publications
for KLHDC8B 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 KLHDC8B gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with KLHDC8B) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mutations in a gene encoding a midbody kelch protein in familial and sporadic classical Hodgkin lymphoma lead to binucleated cells. (PubMed id 19706467)1, 2 Salipante S.J.... Horwitz M.S. (2009)
- 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)
- Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (2004)
- The kelch protein KLHDC8B guards against mitotic error s, centrosomal amplification, and chromosomal instability. (PubMed id 22988245)1 Krem M.M....Horwitz M.S. (2012)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Thirty new loci for age at menarche identified by a m eta-analysis of genome-wide association studies. (PubMed id 21102462)1 Elks C.E....Murray A. (2010)
- Mutations in a gene encoding a midbody protein in bin ucleated Reed-Sternberg cells of Hodgkin lymphoma. (PubMed id 20107318)1 Krem M.M....Horwitz M.S. (2010)
- Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
- 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 KLHDC8B gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing KLHDC8B gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KLHDC8B gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KLHDC8B 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
|
| Name | Description |
| PharmGKB entry for KLHDC8B | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for KLHDC8B gene:
Search GeneIP for patents involving KLHDC8B
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for KLHDC8B gene(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),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHDC8B |
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