Aliases for AKNA Gene

Aliases for AKNA Gene

  • AT-Hook Transcription Factor 2 3 5
  • AT-Hook-Containing Transcription Factor 3 4
  • Microtubule Organization Protein AKNA 3 4
  • AT-Hook Transcription Factor AKNA 3
  • AKNA Transcript F2 3
  • KIAA1968 4

External Ids for AKNA Gene

Previous GeneCards Identifiers for AKNA Gene

  • GC09M107896
  • GC09M108827
  • GC09M110552
  • GC09M112474
  • GC09M114177
  • GC09M116138
  • GC09M117096
  • GC09M086701

Summaries for AKNA Gene

GeneCards Summary for AKNA Gene

AKNA (AT-Hook Transcription Factor) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include RNA polymerase II proximal promoter sequence-specific DNA binding and proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific. An important paralog of this gene is AKNAD1.

UniProtKB/Swiss-Prot Summary for AKNA Gene

  • Centrosomal protein that plays a key role in cell delamination by regulating microtubule organization (By similarity). Required for the delamination and retention of neural stem cells from the subventricular zone during neurogenesis (By similarity). Also regulates the epithelial-to-mesenchymal transition in other epithelial cells (By similarity). Acts by increasing centrosomal microtubule nucleation and recruiting nucleation factors and minus-end stabilizers, thereby destabilizing microtubules at the adherens junctions and mediating constriction of the apical endfoot (By similarity). In addition, may also act as a transcription factor that specifically activates the expression of the CD40 receptor and its ligand CD40L/CD154, two cell surface molecules on lymphocytes that are critical for antigen-dependent-B-cell development (PubMed:11268217). Binds to A/T-rich promoters (PubMed:11268217). It is unclear how it can both act as a microtubule organizer and as a transcription factor; additional evidences are required to reconcile these two apparently contradictory functions (Probable).

Additional gene information for AKNA Gene

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

Genomics for AKNA Gene

GeneHancer (GH) Regulatory Elements for AKNA Gene

Promoters and enhancers for AKNA 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
GH09J114360 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 776.1 +22.4 22415 30.6 ZNF24 SP1 LCORL POLR2A CTBP1 MYC ETV6 RELA HLF CEBPB AKNA WHRN TMEM268 ENSG00000201749 ORM1 ORM2 ATP6V1G1 piR-34946-015 lnc-WHRN-1
GH09J114394 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 761.1 +1.9 1880 4.9 ZBTB40 POLR2A MYC CC2D1A NFYC HLF L3MBTL2 MAX DACH1 ZNF121 AKNA ENSG00000235119 TNC WHRN piR-34946-015
GH09J114348 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 756.3 +49.2 49236 2.5 ZNF785 SP1 ZNF362 MYC RELA MAX MNT ZNF148 ZNF687 EGR1 AKNA lnc-WHRN-2 WHRN COL27A1 TMEM268 ENSG00000201749 lnc-WHRN-1
GH09J114402 Enhancer 0.3 Ensembl 750.6 -1.9 -1949 0.2 SCRT2 AKNA ENSG00000235119 lnc-AKNA-2
GH09J114399 Enhancer 0.3 ENCODE 750.6 -1.1 -1143 0.1 FEZF1 AKNA ENSG00000235119 lnc-AKNA-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AKNA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AKNA gene promoter:
  • AP-4
  • ATF6
  • c-Ets-1
  • ER-alpha
  • Max1
  • MZF-1
  • NF-E2
  • NF-E2 p45
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for AKNA Gene

Genomic Locations for AKNA Gene
chr9:114,334,149-114,398,551
(GRCh38/hg38)
Size:
64,403 bases
Orientation:
Minus strand
chr9:117,096,429-117,156,685
(GRCh37/hg19)
Size:
60,257 bases
Orientation:
Minus strand

Genomic View for AKNA Gene

Genes around AKNA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for AKNA Gene

Proteins for AKNA Gene

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

    Protein Symbol:
    Q7Z591-AKNA_HUMAN
    Recommended name:
    Microtubule organization protein AKNA
    Protein Accession:
    Q7Z591
    Secondary Accessions:
    • Q05BK5
    • Q5T535
    • Q5T536
    • Q5T537
    • Q64FX6
    • Q64FX7
    • Q64FX8
    • Q64FY2
    • Q6ZMK0
    • Q6ZNL2
    • Q6ZTX0
    • Q8TET1
    • Q8TF33
    • Q96RR9
    • Q9H7P7

    Protein attributes for AKNA Gene

    Size:
    1439 amino acids
    Molecular mass:
    155139 Da
    Quaternary structure:
    • Interacts with DCTN1. Interacts with MAPRE1/EB1. Interacts with ODF2. Interacts with CAMSAP3.
    SequenceCaution:
    • Sequence=AAK83024.1; Type=Frameshift; Positions=1228; Evidence={ECO:0000305}; Sequence=AAU34192.1; Type=Frameshift; Positions=1227; Evidence={ECO:0000305}; Sequence=BAB84866.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB85554.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC85132.1; Type=Frameshift; Positions=1340; Evidence={ECO:0000305}; Sequence=BAD18725.1; Type=Frameshift; Positions=820, 1017, 1340, 1387, 1434; Evidence={ECO:0000305};

    Alternative splice isoforms for AKNA Gene

neXtProt entry for AKNA Gene

Post-translational modifications for AKNA Gene

  • Phosphorylated; phosphorylation regulates dissociation from and reassembly at the centrosome.
  • Ubiquitination at Lys1030
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AKNA Gene

Domains & Families for AKNA Gene

Gene Families for AKNA Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AKNA Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AKNA Gene

GenScript: Design optimal peptide antigens:
  • AT-hook-containing transcription factor (AKNA_HUMAN)
  • AKNA transcript F2 (Q64FX5_HUMAN)
  • AKNA transcript C2 (Q64FX9_HUMAN)
  • AKNA transcript C1 (Q64FY0_HUMAN)
  • AKNA transcript B1 (Q64FY1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7Z591

UniProtKB/Swiss-Prot:

AKNA_HUMAN :
  • Belongs to the AKNA family.
Family:
  • Belongs to the AKNA family.
genes like me logo Genes that share domains with AKNA: view

Function for AKNA Gene

Molecular function for AKNA Gene

UniProtKB/Swiss-Prot Function:
Centrosomal protein that plays a key role in cell delamination by regulating microtubule organization (By similarity). Required for the delamination and retention of neural stem cells from the subventricular zone during neurogenesis (By similarity). Also regulates the epithelial-to-mesenchymal transition in other epithelial cells (By similarity). Acts by increasing centrosomal microtubule nucleation and recruiting nucleation factors and minus-end stabilizers, thereby destabilizing microtubules at the adherens junctions and mediating constriction of the apical endfoot (By similarity). In addition, may also act as a transcription factor that specifically activates the expression of the CD40 receptor and its ligand CD40L/CD154, two cell surface molecules on lymphocytes that are critical for antigen-dependent-B-cell development (PubMed:11268217). Binds to A/T-rich promoters (PubMed:11268217). It is unclear how it can both act as a microtubule organizer and as a transcription factor; additional evidences are required to reconcile these two apparently contradictory functions (Probable).

Phenotypes From GWAS Catalog for AKNA Gene

Gene Ontology (GO) - Molecular Function for AKNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 11268217
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 11268217
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with AKNA: view
genes like me logo Genes that share phenotypes with AKNA: view

Animal Models for AKNA Gene

MGI Knock Outs for AKNA:

Animal Model Products

CRISPR Products

Clone Products

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

Localization for AKNA Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKNA Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Nucleus. Note=Localizes to the distal part of the subdistal appendages of the mother centriole in interphase. Also found at the proximal ends of centrioles and along microtubules. The centrosomal localization is dependent on centrioles. Dissociates from centrosomes during M-phase without proteolytic degradation and reassembles at the centrosomes during late telophase and early G1 phase. Dissociation and reassembly is regulated by phosphorylation. {ECO:0000250 UniProtKB:Q80VW7}.

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 AKNA gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AKNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA --
genes like me logo Genes that share ontologies with AKNA: view

Pathways & Interactions for AKNA Gene

PathCards logo

SuperPathways for AKNA Gene

No Data Available

Interacting Proteins for AKNA Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q7Z591-AKNA_HUMAN ENSP00000303769 for AKNA Gene via MINT STRING IID

Gene Ontology (GO) - Biological Process for AKNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001837 epithelial to mesenchymal transition ISS --
GO:0007399 nervous system development IEA --
GO:0021849 neuroblast division in subventricular zone ISS --
GO:0045944 positive regulation of transcription by RNA polymerase II IDA 11268217
GO:0050727 regulation of inflammatory response ISS --
genes like me logo Genes that share ontologies with AKNA: view

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

Drugs & Compounds for AKNA Gene

No Compound Related Data Available

Transcripts for AKNA Gene

CRISPR Products

Clone Products

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

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1:
SP2: -
SP3:
SP4: - -
SP5:
SP6:
SP7: -

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for AKNA Gene

GeneLoc Exon Structure for
AKNA
ECgene alternative splicing isoforms for
AKNA

Expression for AKNA Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (x14.3) and Spleen (x4.4).

Protein differential expression in normal tissues from HIPED for AKNA Gene

This gene is overexpressed in Peripheral blood mononuclear cells (37.4), CD8 Tcells (20.3), and NK cells (7.7).

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



Protein tissue co-expression partners for AKNA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AKNA Gene:

AKNA

SOURCE GeneReport for Unigene cluster for AKNA Gene:

Hs.494895

mRNA Expression by UniProt/SwissProt for AKNA Gene:

Q7Z591-AKNA_HUMAN
Tissue specificity: Predominantly expressed by lymphoid tissues. Highly expressed in the spleen, lymph nodes and peripheral blood leukocytes, expressed at lower level in the thymus. Mainly expressed by germinal center B-lymphocytes, a stage in which receptor and ligand interactions are crucial for B-lymphocyte maturation. Expressed by B- and T-lymphocytes, Natural killer cells and CD1a(+)CD14(-) but not CD1a(-)CD14(+) dendritic cells. Weakly or not expressed in fetal liver and in adult bone marrow.

Evidence on tissue expression from TISSUES for AKNA Gene

  • Spleen(4.3)
  • Nervous system(4.2)
  • Eye(4.1)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with AKNA: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AKNA Gene

Orthologs for AKNA Gene

This gene was present in the common ancestor of chordates.

Orthologs for AKNA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AKNA 33 32
  • 96.86 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AKNA 33 32
  • 79.91 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AKNA 33 32
  • 79.76 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Akna 17 33 32
  • 71.57 (n)
rat
(Rattus norvegicus)
Mammalia Akna 32
  • 71.57 (n)
oppossum
(Monodelphis domestica)
Mammalia AKNA 33
  • 36 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AKNA 33
  • 32 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AKNA 33
  • 47 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii AKNA 33
  • 23 (a)
OneToOne
Dr.16413 32
Species where no ortholog for AKNA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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 AKNA Gene

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

Paralogs for AKNA Gene

Paralogs for AKNA Gene

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

Variants for AKNA Gene

Sequence variations from dbSNP and Humsavar for AKNA Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000007741 -- 114,390,680(-) T/A/C genic_upstream_transcript_variant, intron_variant
rs1000023709 -- 114,340,138(-) T/A genic_downstream_transcript_variant, intron_variant
rs1000028383 -- 114,384,303(-) G/C intron_variant
rs1000117527 -- 114,370,152(-) G/A/C intron_variant
rs1000133345 -- 114,346,107(-) C/T genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv12859n54 CNV gain 21841781
dgv12860n54 CNV gain 21841781
dgv1503e214 CNV gain 21293372
dgv2181e212 CNV gain 25503493
dgv33e196 CNV duplication 17116639
dgv7706n100 CNV gain 25217958
dgv948n27 CNV gain 19166990
dgv949n27 CNV gain 19166990
esv22321 CNV gain 19812545
esv2462819 CNV deletion 19546169
esv2752277 CNV gain 17911159
esv2761285 CNV gain 21179565
esv3449600 CNV duplication 20981092
esv3576696 CNV gain 25503493
esv3621554 CNV loss 21293372
nsv1110578 CNV duplication 24896259
nsv1161903 CNV deletion 26073780
nsv471320 CNV gain 18288195
nsv509319 CNV insertion 20534489
nsv528823 CNV gain 19592680
nsv615233 CNV gain 21841781
nsv831693 CNV gain 17160897
nsv950930 CNV deletion 24416366
nsv957105 CNV deletion 24416366
nsv968749 CNV duplication 23825009

Variation tolerance for AKNA Gene

Residual Variation Intolerance Score: 96.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.15; 96.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AKNA Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AKNA Gene

Additional Disease Information for AKNA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for AKNA Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AKNA Gene

Publications for AKNA Gene

  1. The human AKNA gene expresses multiple transcripts and protein isoforms as a result of alternative promoter usage, splicing, and polyadenylation. (PMID: 15869410) Sims-Mourtada JC … Martinez-Valdez H (DNA and cell biology 2005) 3 4 23 56
  2. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PMID: 11853319) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 56
  3. Regulation of CD40 and CD40 ligand by the AT-hook transcription factor AKNA. (PMID: 11268217) Siddiqa A … Martinez-Valdez H (Nature 2001) 2 3 4 56
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56
  5. A polymorphism in the AT-hook motif of the transcriptional regulator AKNA is a risk factor for cervical cancer. (PMID: 20507260) Perales G … Madrid-Marina V (Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals 2010) 3 43 56

Products for AKNA Gene

Sources for AKNA Gene