Aliases for AKIRIN2 Gene

Aliases for AKIRIN2 Gene

  • Akirin 2 2 3 5
  • DJ486L4.2 2 3
  • C6orf166 3 4
  • Akirin-2 3 4
  • Fourteen-Three-Three Beta Interactant 1 3
  • Chromosome 6 Open Reading Frame 166 2
  • FLJ10342 2
  • AKIRIN2 5
  • FBI1 3

External Ids for AKIRIN2 Gene

Previous HGNC Symbols for AKIRIN2 Gene

  • C6orf166

Previous GeneCards Identifiers for AKIRIN2 Gene

  • GC06M088442
  • GC06M085599
  • GC06M088384

Summaries for AKIRIN2 Gene

GeneCards Summary for AKIRIN2 Gene

AKIRIN2 (Akirin 2) is a Protein Coding gene. Diseases associated with AKIRIN2 include Tick Infestation and Brachydactyly, Type B2. Gene Ontology (GO) annotations related to this gene include enzyme binding. An important paralog of this gene is AKIRIN1.

UniProtKB/Swiss-Prot Summary for AKIRIN2 Gene

  • Required for the innate immune response. Downstream effector of the Toll-like receptor (TLR), TNF and IL-1 beta signaling pathways leading to the production of IL-6. Forms a complex with YWHAB that acts to repress transcription of DUSP1 (By similarity).

Gene Wiki entry for AKIRIN2 Gene

Additional gene information for AKIRIN2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AKIRIN2 Gene

Genomics for AKIRIN2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AKIRIN2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AKIRIN2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AKIRIN2

Top Transcription factor binding sites by QIAGEN in the AKIRIN2 gene promoter:
  • aMEF-2
  • AML1a
  • Bach1
  • Egr-3
  • ITF-2
  • MEF-2A
  • MRF-2
  • Sox5
  • Sp1

Genomic Locations for AKIRIN2 Gene

Genomic Locations for AKIRIN2 Gene
chr6:87,674,860-87,702,233
(GRCh38/hg38)
Size:
27,374 bases
Orientation:
Minus strand
chr6:88,384,578-88,411,985
(GRCh37/hg19)
Size:
27,408 bases
Orientation:
Minus strand

Genomic View for AKIRIN2 Gene

Genes around AKIRIN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKIRIN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKIRIN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKIRIN2 Gene

Proteins for AKIRIN2 Gene

  • Protein details for AKIRIN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53H80-AKIR2_HUMAN
    Recommended name:
    Akirin-2
    Protein Accession:
    Q53H80
    Secondary Accessions:
    • Q9BQB1

    Protein attributes for AKIRIN2 Gene

    Size:
    203 amino acids
    Molecular mass:
    22496 Da
    Quaternary structure:
    • Interacts with YWHAB.
    Miscellaneous:
    • 'Akiraka ni suru' means 'making things clear' in Japanese. The name is given based on the presence of the clear nuclear localization signal.

neXtProt entry for AKIRIN2 Gene

Post-translational modifications for AKIRIN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AKIRIN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AKIRIN2 Gene

Domains & Families for AKIRIN2 Gene

Gene Families for AKIRIN2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AKIRIN2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AKIRIN2 Gene

GenScript: Design optimal peptide antigens:
  • Akirin-2 (AKIR2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q53H80

UniProtKB/Swiss-Prot:

AKIR2_HUMAN :
  • Belongs to the akirin family.
Family:
  • Belongs to the akirin family.
genes like me logo Genes that share domains with AKIRIN2: view

Function for AKIRIN2 Gene

Molecular function for AKIRIN2 Gene

UniProtKB/Swiss-Prot Function:
Required for the innate immune response. Downstream effector of the Toll-like receptor (TLR), TNF and IL-1 beta signaling pathways leading to the production of IL-6. Forms a complex with YWHAB that acts to repress transcription of DUSP1 (By similarity).

Gene Ontology (GO) - Molecular Function for AKIRIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0019899 enzyme binding IPI 23382074
genes like me logo Genes that share ontologies with AKIRIN2: view
genes like me logo Genes that share phenotypes with AKIRIN2: view

Animal Models for AKIRIN2 Gene

MGI Knock Outs for AKIRIN2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKIRIN2

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AKIRIN2 Gene

Localization for AKIRIN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKIRIN2 Gene

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 AKIRIN2 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
cytosol 1
mitochondrion 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AKIRIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 18066067
GO:0005654 nucleoplasm IDA --
GO:0017053 transcriptional repressor complex IEA,ISS --
genes like me logo Genes that share ontologies with AKIRIN2: view

Pathways & Interactions for AKIRIN2 Gene

PathCards logo

SuperPathways for AKIRIN2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AKIRIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0002376 immune system process IEA --
GO:0007275 multicellular organism development IEA --
GO:0008284 positive regulation of cell proliferation IEA --
GO:0009792 embryo development ending in birth or egg hatching IEA --
genes like me logo Genes that share ontologies with AKIRIN2: view

No data available for Pathways by source and SIGNOR curated interactions for AKIRIN2 Gene

Drugs & Compounds for AKIRIN2 Gene

No Compound Related Data Available

Transcripts for AKIRIN2 Gene

mRNA/cDNA for AKIRIN2 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKIRIN2

Alternative Splicing Database (ASD) splice patterns (SP) for AKIRIN2 Gene

No ASD Table

Relevant External Links for AKIRIN2 Gene

GeneLoc Exon Structure for
AKIRIN2

Expression for AKIRIN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AKIRIN2 Gene

mRNA differential expression in normal tissues according to GTEx for AKIRIN2 Gene

This gene is overexpressed in Whole Blood (x4.3).

Protein differential expression in normal tissues from HIPED for AKIRIN2 Gene

This gene is overexpressed in Hair follicle (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AKIRIN2 Gene



Protein tissue co-expression partners for AKIRIN2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AKIRIN2

SOURCE GeneReport for Unigene cluster for AKIRIN2 Gene:

Hs.485915

mRNA Expression by UniProt/SwissProt for AKIRIN2 Gene:

Q53H80-AKIR2_HUMAN
Tissue specificity: Widely expressed with the highest expression in peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for AKIRIN2 Gene

  • Nervous system(4.8)
  • Muscle(3.1)
  • Liver(2.6)
  • Spleen(2.5)
  • Lung(2.3)
  • Heart(2.3)
genes like me logo Genes that share expression patterns with AKIRIN2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for AKIRIN2 Gene

Orthologs for AKIRIN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for AKIRIN2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AKIRIN2 30 31
  • 99.67 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AKIRIN2 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia AKIRIN2 30 31
  • 95.89 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AKIRIN2 30 31
  • 94.75 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AKIRIN2 31
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Akirin2 30 17 31
  • 90.05 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Akirin2 30
  • 89.39 (n)
Chicken
(Gallus gallus)
Aves AKIRIN2 30 31
  • 87.09 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AKIRIN2 31
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia akirin2 30
  • 79.44 (n)
MGC76154 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7326 30
Zebrafish
(Danio rerio)
Actinopterygii akirin2 30 31
  • 72.59 (n)
OneToOne
Dr.4764 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006809 30
  • 53.98 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta akirin 30 31
  • 48.05 (n)
OneToMany
Species where no ortholog for AKIRIN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 Vase (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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for AKIRIN2 Gene

ENSEMBL:
Gene Tree for AKIRIN2 (if available)
TreeFam:
Gene Tree for AKIRIN2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AKIRIN2: view image

Paralogs for AKIRIN2 Gene

Paralogs for AKIRIN2 Gene

(1) SIMAP similar genes for AKIRIN2 Gene using alignment to 1 proteins:

  • AKIR2_HUMAN
genes like me logo Genes that share paralogs with AKIRIN2: view

Variants for AKIRIN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AKIRIN2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
773881 Benign: not provided 87,681,616(-) T/C INTRON_VARIANT
785176 Benign: not provided 87,675,861(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for AKIRIN2 Gene

Structural Variations from Database of Genomic Variants (DGV) for AKIRIN2 Gene

Variant ID Type Subtype PubMed ID
dgv6085n100 CNV gain 25217958
esv2759454 CNV loss 17122850
esv3571280 CNV loss 25503493
esv3609867 CNV loss 21293372
nsv7941 CNV gain 18304495
nsv950478 CNV duplication 24416366

Variation tolerance for AKIRIN2 Gene

Residual Variation Intolerance Score: 54.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.37; 8.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AKIRIN2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKIRIN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKIRIN2 Gene

Disorders for AKIRIN2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for AKIRIN2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
tick infestation
  • tick infestations
brachydactyly, type b2
  • bdb2
parasitic ectoparasitic infectious disease
  • ectoparasitism
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with AKIRIN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AKIRIN2 Gene

Publications for AKIRIN2 Gene

  1. Evolution of the multifaceted eukaryotic akirin gene family. (PMID: 19200367) Macqueen DJ … Johnston IA (BMC evolutionary biology 2009) 2 3
  2. Akirins are highly conserved nuclear proteins required for NF-kappaB-dependent gene expression in drosophila and mice. (PMID: 18066067) Goto A … Reichhart JM (Nature immunology 2008) 3 4
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4

Products for AKIRIN2 Gene

Sources for AKIRIN2 Gene