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Aliases for IKBIP Gene

Aliases for IKBIP Gene

  • IKBKB Interacting Protein 2 3 5
  • I Kappa B Kinase Interacting Protein 2 3
  • I Kappa-B Kinase-Interacting Protein 3 4
  • IKIP 3 4
  • Inhibitor Of Nuclear Factor Kappa-B Kinase-Interacting Protein 3
  • IKBKB-Interacting Protein 4
  • IKK Interacting Protein 3
  • IKK-Interacting Protein 4

External Ids for IKBIP Gene

Previous GeneCards Identifiers for IKBIP Gene

  • GC12M097531
  • GC12M099007
  • GC12M096068

Summaries for IKBIP Gene

GeneCards Summary for IKBIP Gene

IKBIP (IKBKB Interacting Protein) is a Protein Coding gene. Diseases associated with IKBIP include Andersen Cardiodysrhythmic Periodic Paralysis.

UniProtKB/Swiss-Prot for IKBIP Gene

  • Target of p53/TP53 with pro-apoptotic function.

Additional gene information for IKBIP Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IKBIP Gene

Genomics for IKBIP Gene

GeneHancer (GH) Regulatory Elements for IKBIP Gene

Promoters and enhancers for IKBIP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I098643 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 572.8 -0.1 -53 4.1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ZNF766 E2F8 IKBIP APAF1 TMPO SLC25A3 PPIAP8 GC12P098649
GH12I098605 Enhancer 0.8 Ensembl ENCODE 29.6 +38.0 38040 2.3 CTCF ZNF654 MAX CEBPB RAD21 BCL6B CEBPA SMC3 BCL6 GC12M098601 IKBIP APAF1 SLC25A3 GC12M098602
GH12I098592 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.1 +50.6 50597 4.3 PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC25A3 GC12M098595 TMPO APAF1 IKBIP TMPO-AS1
GH12I098724 Enhancer 0.7 ENCODE dbSUPER 22.5 -80.6 -80583 1.4 CTCF ZNF654 SMC3 REST RAD21 TEAD3 IKBIP GC12P098771 GC12P098656 APAF1
GH12I098739 Enhancer 0.8 dbSUPER 18.1 -96.8 -96839 4.6 INSM2 SIN3A FEZF1 RAD21 ZNF335 ZNF366 ZSCAN5C ZNF143 REST ZEB2 IKBIP SLC25A3 GC12P098771 GC12P098656
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IKBIP on UCSC Golden Path with GeneCards custom track

Genomic Locations for IKBIP Gene

Genomic Locations for IKBIP Gene
chr12:98,613,404-98,645,113
(GRCh38/hg38)
Size:
31,710 bases
Orientation:
Minus strand
chr12:99,007,182-99,038,891
(GRCh37/hg19)

Genomic View for IKBIP Gene

Genes around IKBIP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IKBIP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IKBIP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IKBIP Gene

Proteins for IKBIP Gene

  • Protein details for IKBIP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q70UQ0-IKIP_HUMAN
    Recommended name:
    Inhibitor of nuclear factor kappa-B kinase-interacting protein
    Protein Accession:
    Q70UQ0
    Secondary Accessions:
    • Q6ZWH4
    • Q70UP9
    • Q86V91
    • Q96ND2

    Protein attributes for IKBIP Gene

    Size:
    350 amino acids
    Molecular mass:
    39309 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Shares a common promoter with APAF1 from which the 2 genes are transcribed in opposite directions.

    Alternative splice isoforms for IKBIP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IKBIP Gene

Post-translational modifications for IKBIP Gene

  • N-glycosylated. Isoform 4 is glycosylated at Asn-154.
  • Glycosylation at posLast=144144 and isoforms=2328
  • Modification sites at PhosphoSitePlus

Other Protein References for IKBIP Gene

No data available for DME Specific Peptides for IKBIP Gene

Domains & Families for IKBIP Gene

Gene Families for IKBIP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for IKBIP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IKBIP Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with IKBIP: view

No data available for UniProtKB/Swiss-Prot for IKBIP Gene

Function for IKBIP Gene

Molecular function for IKBIP Gene

UniProtKB/Swiss-Prot Function:
Target of p53/TP53 with pro-apoptotic function.
UniProtKB/Swiss-Prot Induction:
By X-ray irradiation.

Phenotypes From GWAS Catalog for IKBIP Gene

Gene Ontology (GO) - Molecular Function for IKBIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15389287
genes like me logo Genes that share ontologies with IKBIP: view

Phenotypes for IKBIP Gene

genes like me logo Genes that share phenotypes with IKBIP: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for IKBIP Gene

Localization for IKBIP Gene

Subcellular locations from UniProtKB/Swiss-Prot for IKBIP Gene

Endoplasmic reticulum membrane; Single-pass membrane protein. Note=Isoform 4 deletion of the hydrophobic, or transmembrane region between AA 45-63 results in uniform distribution throughout the cell, suggesting that this region is responsible for endoplasmic reticulum localization.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IKBIP gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IKBIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA,IEA 15389287
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with IKBIP: view

Pathways & Interactions for IKBIP Gene

SuperPathways for IKBIP Gene

No Data Available

Gene Ontology (GO) - Biological Process for IKBIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010165 response to X-ray TAS 15389287
genes like me logo Genes that share ontologies with IKBIP: view

No data available for Pathways by source and SIGNOR curated interactions for IKBIP Gene

Drugs & Compounds for IKBIP Gene

No Compound Related Data Available

Transcripts for IKBIP Gene

Unigene Clusters for IKBIP Gene

IKBKB interacting protein:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IKBIP Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4
SP1: -
SP2:
SP3: - -

Relevant External Links for IKBIP Gene

GeneLoc Exon Structure for
IKBIP
ECgene alternative splicing isoforms for
IKBIP

Expression for IKBIP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IKBIP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IKBIP Gene

This gene is overexpressed in Bone (21.9) and Bone marrow stromal cell (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IKBIP Gene



NURSA nuclear receptor signaling pathways regulating expression of IKBIP Gene:

IKBIP

SOURCE GeneReport for Unigene cluster for IKBIP Gene:

Hs.252543

mRNA Expression by UniProt/SwissProt for IKBIP Gene:

Q70UQ0-IKIP_HUMAN
Tissue specificity: Expressed in vein endothelial cells. Isoform 4 is expressed in lung, kidney, spleen, thymus and skeletal muscle.

Evidence on tissue expression from TISSUES for IKBIP Gene

  • Liver(4.3)
  • Skin(4)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with IKBIP: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for IKBIP Gene

Orthologs for IKBIP Gene

This gene was present in the common ancestor of chordates.

Orthologs for IKBIP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IKBIP 33 34
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia IKBIP 33 34
  • 90.93 (n)
rat
(Rattus norvegicus)
Mammalia Ikbip 33
  • 82.29 (n)
mouse
(Mus musculus)
Mammalia Ikbip 33 16 34
  • 80.67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IKBIP 34
  • 71 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IKBIP 34
  • 33 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IKBIP 34
  • 31 (a)
OneToOne
chicken
(Gallus gallus)
Aves IKBIP 33 34
  • 65.12 (n)
lizard
(Anolis carolinensis)
Reptilia IKBIP 34
  • 51 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.17243 33
zebrafish
(Danio rerio)
Actinopterygii IKBIP 34
  • 12 (a)
OneToOne
Species where no ortholog for IKBIP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IKBIP Gene

ENSEMBL:
Gene Tree for IKBIP (if available)
TreeFam:
Gene Tree for IKBIP (if available)

Paralogs for IKBIP Gene

(1) SIMAP similar genes for IKBIP Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with IKBIP: view

No data available for Paralogs for IKBIP Gene

Variants for IKBIP Gene

Sequence variations from dbSNP and Humsavar for IKBIP Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000170618 -- 98,638,684(-) A/C intron_variant
rs1000228426 -- 98,616,360(-) GAG/G genic_downstream_transcript_variant, intron_variant
rs1000299152 -- 98,619,122(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000343935 -- 98,624,716(-) A/T 3_prime_UTR_variant, intron_variant
rs1000460142 -- 98,624,919(-) C/T 3_prime_UTR_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for IKBIP Gene

Variant ID Type Subtype PubMed ID
esv2659532 CNV deletion 23128226
esv3630513 CNV loss 21293372
nsv559918 CNV loss 21841781
nsv559919 CNV loss 21841781
nsv7234 OTHER inversion 18451855
nsv819940 CNV loss 19587683

Variation tolerance for IKBIP Gene

Residual Variation Intolerance Score: 82.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.69; 57.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IKBIP Gene

Human Gene Mutation Database (HGMD)
IKBIP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IKBIP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IKBIP Gene

Disorders for IKBIP Gene

MalaCards: The human disease database

(1) MalaCards diseases for IKBIP Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
andersen cardiodysrhythmic periodic paralysis
  • andersen syndrome
- elite association - COSMIC cancer census association via MalaCards
Search IKBIP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IKBIP

genes like me logo Genes that share disorders with IKBIP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IKBIP Gene

Publications for IKBIP Gene

  1. A highly conserved proapoptotic gene, IKIP, located next to the APAF1 gene locus, is regulated by p53. (PMID: 15389287) Hofer-Warbinek R … de Martin R (Cell death and differentiation 2004) 2 3 4 22 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The scaffold protein KSR1, a novel therapeutic target for the treatment of Merlin-deficient tumors. (PMID: 26549023) Zhou L … Hanemann CO (Oncogene 2016) 3 58
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58

Products for IKBIP Gene

Sources for IKBIP Gene

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