IKBKAP Gene
protein-coding GIFtS: 61
GCID: GC09M111629
|
|
inhibitor of kappa light polypeptide gene enhancer in B-cells,...(Previous names: dysautonomia (Riley-Day syndrome, hereditary sensory autonomic...)
(Previous symbol: DYS)
| |
Aliases
for IKBKAP gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells, KinaseComplex-Associated Protein1 2 | | IKK Complex-Associated Protein2 3 | | IKAP1 2 3 5 | | P1501 | | ELP11 2 3 | | Dysautonomia (Riley-Day Syndrome, Hereditary Sensory Autonomic Neuropathy TypeIII)1 | | DYS1 2 | | FD2 | | IKI31 2 | | Elongator Acetyltransferase Complex Subunit 12 | | TOT11 2 | | Elongator Complex Protein 12 | | IkappaB Kinase Complex-Associated Protein2 3 | | |
Export aliases for IKBKAP gene to outside databasesPrevious GC identifers: GC09M102427 GC09M103361 GC09M105087 GC09M107010 GC09M107011 GC09M108709 GC09M110669 GC09M081229 |
Summaries
for IKBKAP 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 IKBKAP:
The protein encoded by this gene is a scaffold protein and a regulator for 3 different kinases involved inproinflammatory signaling. This encoded protein can bind NF-kappa-B-inducing kinase (NIK) and IKKs through separatedomains and assemble them into an active kinase complex. Mutations in this gene have been associated with familialdysautonomia. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: ELP1_HUMAN, O95163Function: May act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK)Function: Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component ofthe RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role inchromatin remodeling and is involved in acetylation of histones H3 and probably H4. Involved in cell migration
|
Genomic Views
for IKBKAP 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_000009.11 NC_018920.1 NT_008470.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the IKBKAP gene promoter:
FOXF2 AP-1 ATF-2 STAT5A POU3F2 (N-Oct-5a) POU3F2 (N-Oct-5b) E4BP4 POU3F2 c-Jun ATF
Other transcription factors
Search SABiosciences Chromatin IP Primers for IKBKAP
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IKBKAP |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 9q31 Ensembl cytogenetic band: 9q31.3 HGNC cytogenetic band: 9q31IKBKAP Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09M111629: view genomic region
(about GC identifiers)
Start:
|
111,629,797 bp from pter |
End:
|
111,696,608 bp from pter |
Size:
|
66,812 bases |
Orientation:
|
minus strand |
|
Proteins
for IKBKAP 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: ELP1_HUMAN, O95163 (See
protein sequence)Recommended Name: Elongator complex protein 1 Size: 1332 amino acids; 150254 Da
Subunit: Interacts preferentially with MAP3K14/NIK followed by IKK-alpha and IKK-beta. Component of the RNA polymeraseII elongator complex (Elongator), which consists of IKBKAP/ELP1, STIP1/ELP2, ELP3, ELP4, ELP5 and ELP6. Elongatorassociates with the C-terminal domain (CTD) of Pol II largest subunit. Interacts with ELP3
Subcellular location: Cytoplasm. Nucleus
Sequence caution: Sequence=CAB43219.1; Type=Frameshift; Positions=1286;
Secondary accessions: Q5JSV2 Q9H327 Q9UG87Explore the universe of human proteins at neXtProt for IKBKAP: NX_O95163
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O95163
IKBKAP Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_003631.2
ENSEMBL proteins: ENSP00000363779 ENSP00000433514 ENSP00000439367
Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
IKBKAP for ontologies About GeneDecksing
IKBKAP Antibody Products:
Assay Products for IKBKAP: |
Protein
Domains /
Families
for IKBKAP gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
IKBKAP for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry O95163ProtoNet protein and cluster: O95163 UniProtKB/Swiss-Prot: ELP1_HUMAN, O95163Similarity: Belongs to the ELP1/IKA1 family |
Function
for IKBKAP 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: ELP1_HUMAN, O95163Function: May act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK)Function: Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component ofthe RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role inchromatin remodeling and is involved in acetylation of histones H3 and probably H4. Involved in cell migration
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 IKBKAP (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IKBKAP
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: IKBKAP (NM_003640) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for IKBKAP | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IKBKAP |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IKBKAP |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
IKBKAP for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for IKBKAP:
Animal Models:
Mouse knock-out Ikbkaptm1.1Id for IKBKAP
15/18 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Ikbkap) (see all 18):
IKBKAP for phenotypes About GeneDecksing
|
Pathways & Interactions
for IKBKAP 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
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Transcription NF-kB signaling pathway | | | 2 | TNF-alpha/NF-kB Signaling Pathway | | | 3 | Chromatin Regulation / Acetylation | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for IKBKAP
1 
Cell Signaling Technology (CST) Pathway for IKBKAP
1  GeneGo (Thomson Reuters) Pathway for IKBKAP
1  BioSystems Pathway for IKBKAP
IKBKAP for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for IKBKAP
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/686 Interacting proteins for IKBKAP (O951631, 2, 3 ENSP000003637794) via UniProtKB, MINT, STRING, and/or I2D (see all 686)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| HTT | P428581, 2, 3, ENSP000003471844 | EBI-347559,EBI-466029 MINT-3978299 MINT-3978214 MINT-3977926 MINT-3981402 I2D:
score=6 STRING: ENSP00000347184 | | PBX2 | P404252, 3, ENSP000003641904 | MINT-62525 I2D:
score=5 STRING: ENSP00000364190 | | EEF1A1 | P681042, 3, ENSP000003300544 | MINT-7947479 I2D:
score=2 STRING: ENSP00000330054 | | DYNC1H1 | Q142042, 3 | MINT-7947479 I2D:
score=2 | | ACTB | P607092, 3 | MINT-7947479 I2D:
score=1 |
About this table
Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table
IKBKAP for ontologies About GeneDecksing
|
Drugs & Compounds
for IKBKAP 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
|
IKBKAP for compounds About GeneDecksing
 Browse Tocris compounds for IKBKAP
5 Novoseek chemical compound relationships for IKBKAP gene About this table
Search CenterWatch for drugs/clinical trials and news about IKBKAP / ELP1
|
Transcripts
for IKBKAP 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 IKBKAP gene: NM_003640.3 Unigene Cluster for IKBKAP: Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein Hs.494738 [show with all ESTs]Unigene Representative Sequence: NM_0036404 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000374647(uc004bdl.3 uc004bdm.4 uc011lwc.2 uc010mtq.3)
ENST00000495759(uc004bdk.3 uc010mtp.3) ENST00000467959 ENST00000537196
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IKBKAP (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IKBKAP
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: IKBKAP (NM_003640) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for IKBKAP | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IKBKAP |
Additional cDNA sequence: AB210033.1 AF044195.1 AF153419.2 AK001641.1 AK022559.1 AK024223.1 AK127237.1 AK225798.1 AK289962.1 AK304742.1 AL049945.1 BC033094.1 CR749385.1 13 DOTS entries: DT.448141 DT.455449 DT.97810003 DT.121189521 DT.99954887 DT.92438687 DT.95170546 DT.100791598 DT.100791600 DT.92438681 DT.121189490 DT.121189503 DT.95170545 24/228 AceView cDNA sequences (see all 228): BU683011 CF552514 CD673986 BQ012575 CB243575 AK024223 AK001641 AA608536 BM976720 BU739802 BX509169 CA397687 BM786795 AA826453 BU535605 W86818 AU127237 CA419639 BM720285 BF061438 BM273023 AA962172 AA478782 AA489725
GeneLoc Exon Structure
5/11 Alternative Splicing Database (ASD) splice patterns (SP) for IKBKAP (see all 11) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | - | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | | | | | | | | | | |
| ExUns: | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27a | · | 27b | · | 27c | ^ | 28a | · | 28b | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37a | · | 37b | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | - | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | - | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 38a | · | 38b | · | 38c |
|---|
|
| SP1: | | | | | | | |
| SP2: | | | | | | | |
| SP3: | | | | | | | |
| SP4: | | | | | | | |
| SP5: | | | | | | |
ECgene alternative splicing isoforms for IKBKAP
|
Expression
for IKBKAP 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
| IKBKAP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See IKBKAP Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for IKBKAP
SOURCE GeneReport for Unigene cluster: Hs.494738
SABiosciences Expression via Pathway-Focused PCR Array including IKBKAP: | TNF Ligands & Receptors in human mouse rat |
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IKBKAP
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat IKBKAP | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IKBKAP | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IKBKAP | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IKBKAP |
Orthologs
for IKBKAP 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 eukaryotes.
Orthologs for IKBKAP gene from 9/29 species (see all 29) About this table
ENSEMBL Gene Tree for IKBKAP (if available)
TreeFam Gene Tree for IKBKAP (if available) |
Paralogs
for IKBKAP gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for IKBKAP 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 9 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for IKBKAP (111629797 - 111696608 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for IKBKAP: --
Human Gene Mutation Database (HGMD): IKBKAP
Locus Specific Mutation Databases (LSDB): IKBKAP
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IKBKAP |
|
Disorders
/ Diseases
for IKBKAP gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
IKBKAP for disorders About GeneDecksing
OMIM gene information: 603722
OMIM disorders: 223900
UniProtKB/Swiss-Prot: ELP1_HUMAN, O95163
Defects in IKBKAP are the cause of hereditary sensory and autonomic neuropathy type 3 (HSAN3) [MIM:223900];also known as Riley-Day syndrome or familial dysautonomia (FD). This autosomal recessive disorder is due to the poordevelopment and survival, and progressive degeneration of the sensory, sympathetic and parasympathetic neurons. HSAN3individuals are affected with a variety of symptoms such as decreased sensitivity to pain and temperature,cardiovascular instability, recurrent pneumonias, vomiting crises, and gastrointestinal dysfunction. It is primarilyconfined to individuals of Ashkenazi Jewish descent, with an incidence of 1/3'600 live births
20/41  diseases for IKBKAP (see all 41): About MalaCardsriley-day syndrome dysautonomia autonomic neuropathy argyll robertson pupil
neuropathy fatal familial insomnia hyperlipoproteinemia type iv lewy body dementia
baroreflex failure tetanus neonatorum hereditary sensory neuropathy neurogenic bladder
frey syndrome megaesophagus hypermobility syndrome multiple system atrophy
anhidrosis hypohidrosis differentiating neuroblastoma bronchial asthma
4 diseases from the University of Copenhagen DISEASES database for IKBKAP:Neuropathy Gastritis Hyperlipoproteinemia type IV Myopathy 10/11 Novoseek disease relationships for IKBKAP gene (see all 11) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| dysautonomia familial |
98.6 |
49 |
12577200 (2), 16125677 (2), 12788105 (2), 18091349 (2) (see all 30) |
| neuropathy congenital sensory |
86.1 |
2 |
12831599 (1), 11179008 (1) |
| sensory neuropathy hereditary |
78.1 |
1 |
15319794 (1) |
| autonomic neuropathy |
75.3 |
5 |
12577200 (1), 17644305 (1), 19015235 (1) |
| familial disorder |
63.8 |
4 |
11714725 (1), 11722848 (1) |
| genetic disorder |
52.1 |
6 |
12788105 (1), 19429107 (1), 18405001 (1) |
| neurodegenerative diseases |
33.3 |
3 |
16125677 (1), 17206408 (1) |
| necrosis |
3.76 |
3 |
10893415 (1), 12058026 (1) |
| asthma |
0 |
4 |
11281413 (1), 11747609 (1), 12774215 (1) |
| rheumatoid arthritis |
0 |
1 |
19262425 (1) |
GeneTests: IKBKAP
Familial Dysautonomia
Genetic Association Database (GAD): IKBKAP
Human Genome Epidemiology (HuGE) Navigator: IKBKAP (18 documents)
Export disorders for IKBKAP gene to outside databases
|
Publications
for IKBKAP 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 IKBKAP gene, integrated from 9 sources (see all 103):
(articles sorted by number of sources associating them with IKBKAP) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. (PubMed id 11179008)1, 2, 3, 9 Slaugenhaupt S.A.... Gusella J.F. (2001)
- IKAP is a scaffold protein of the IkappaB kinase complex. (PubMed id 9751059)1, 2, 3 Cohen L.... Baeuerle P.A. (1998)
- The role of the IKAP gene polymorphisms in atopic diseases in the middle European population. (PubMed id 12774215)1, 4, 9 Schuller M....Vacha J. (2003)
- Familial dysautonomia is caused by mutations of the IKAP gene. (PubMed id 11179021)1, 2, 9 Anderson S.L.... Rubin B.Y. (2001)
- Purification and characterization of the human elongator complex. (PubMed id 11714725)1, 2, 9 Hawkes N.A.... Svejstrup J.Q. (2002)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Human Elongator facilitates RNA polymerase II transcription through chromatin. (PubMed id 11818576)1, 2 Kim J.H.... Reinberg D. (2002)
- Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews. (PubMed id 12116234)1, 4 Dong J....Desnick R.J. (2002)
- IKAP localizes to membrane ruffles with filamin A and regulates actin cytoskeleton organization and cell migration. (PubMed id 18303054)1, 9 Johansen L.D....Kallunki T. (2008)
- Cloning, characterization, and genomic structure of the mouse Ikbkap gene. (PubMed id 11747609)1, 9 Cuajungco M.P....Slaugenhaupt S.A. (2001)
|
External Searches for IKBKAP gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing IKBKAP gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing IKBKAP gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing IKBKAP 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 IKBKAP | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IKBKAP |
|
| | |
About This Section
| Patent Information for IKBKAP gene:
Search GeneIP for patents involving IKBKAP
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for IKBKAP 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
|
 | |
 | |
 |
| | |  | OriGene Antibodies for IKBKAP | | OriGene shRNA RFP for IKBKAP | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IKBKAP | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IKBKAP | | | OriGene Protein Over-expression Lysate for IKBKAP | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for IKBKAP | | OriGene 3'-UTR Clone for IKBKAP | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IKBKAP | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IKBKAP | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for IKBKAP | | OriGene Custom Protein Services for IKBKAP | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat IKBKAP | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IKBKAP | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IKBKAP | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IKBKAP | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IKBKAP | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IKBKAP |
| |
 |  |  |  | |
| | Antibodies & Assays for IKBKAP |
| | | | Search Tocris compounds for IKBKAP |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | IKBKAP Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IKBKAP |
|  |  |  | | | | ThermoFisher Antibodies for IKBKAP |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IKBKAP |
|
|
|
|
