Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AKNA Gene

Aliases for AKNA Gene

  • AT-Hook Transcription Factor 2 3 5
  • 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. GO annotations related to this gene include RNA polymerase II core promoter proximal region sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding.

UniProtKB/Swiss-Prot for AKNA Gene

  • 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. Binds to A/T-rich promoters.

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

Genomics for AKNA Gene

Regulatory Elements for AKNA Gene

Enhancers for AKNA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AKNA on UCSC Golden Path with GeneCards custom track

Promoters for AKNA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AKNA on UCSC Golden Path with GeneCards custom track

Genomic Location for AKNA Gene

Chromosome:
9
Start:
114,334,149 bp from pter
End:
114,398,551 bp from pter
Size:
64,403 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:
    AT-hook-containing transcription factor
    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:
    No Data Available
    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

Proteomics data for AKNA Gene at MOPED

Post-translational modifications for AKNA Gene

  • Ubiquitination at Lys 1030
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AKNA Gene

Domains & Families for AKNA Gene

Protein Domains for AKNA Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q7Z591

UniProtKB/Swiss-Prot:

AKNA_HUMAN :
  • Contains 1 A.T hook DNA-binding domain.
Domain:
  • Contains 1 A.T hook DNA-binding domain.
genes like me logo Genes that share domains with AKNA: view

No data available for Gene Families for AKNA Gene

Function for AKNA Gene

Molecular function for AKNA Gene

UniProtKB/Swiss-Prot Function:
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. Binds to A/T-rich promoters.
genes like me logo Genes that share phenotypes with AKNA: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AKNA Gene

Localization for AKNA Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKNA Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AKNA Gene COMPARTMENTS Subcellular localization image for AKNA gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for AKNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with AKNA: view

Pathways & Interactions for AKNA Gene

SuperPathways for AKNA Gene

No Data Available

Gene Ontology (GO) - Biological Process for AKNA Gene

None

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

Unigene Clusters for AKNA Gene

AT-hook transcription factor:
Representative Sequences:

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 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, MOPED, and MaxQB for AKNA Gene



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.
genes like me logo Genes that share expression patterns with AKNA: view

Protein tissue co-expression partners for AKNA Gene

- Elite partner

Primer Products

Orthologs for AKNA Gene

This gene was present in the common ancestor of chordates.

Orthologs for AKNA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AKNA 35
  • 79.76 (n)
  • 68.71 (a)
AKNA 36
  • 68 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AKNA 35
  • 79.91 (n)
  • 70.7 (a)
AKNA 36
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Akna 35
  • 71.57 (n)
  • 60.19 (a)
Akna 16
Akna 36
  • 60 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AKNA 35
  • 96.86 (n)
  • 95.92 (a)
AKNA 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Akna 35
  • 71.57 (n)
  • 59.26 (a)
oppossum
(Monodelphis domestica)
Mammalia AKNA 36
  • 36 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AKNA 36
  • 32 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AKNA 36
  • 47 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii Dr.16413 35
AKNA 36
  • 23 (a)
OneToOne
Species with no ortholog for AKNA:
  • 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)

Paralogs for AKNA Gene

No data available for Paralogs for AKNA Gene

Variants for AKNA Gene

Sequence variations from dbSNP and Humsavar for AKNA Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs3748176 - 114,362,451(-) CCAGC(C/T)GCTTG nc-transcript-variant, reference, missense
rs1265891 - 114,347,832(+) GTGGC(C/T)GGTGC nc-transcript-variant, reference, missense
rs3748178 - 114,347,766(-) CGGCC(A/G)GCCAG nc-transcript-variant, reference, missense
rs2250242 - 114,341,693(+) TGAAG(A/G)TGCTT nc-transcript-variant, reference, missense
rs2787344 - 114,341,620(+) CCAGA(C/T)ACCAC nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv893750 CNV Loss 21882294
dgv33e196 CNV Duplication 17116639
dgv948n27 CNV Gain 19166990
nsv893754 CNV Loss 21882294
nsv893757 CNV Gain 21882294
dgv949n27 CNV Gain 19166990
nsv471320 CNV Gain 18288195
nsv528823 CNV Gain 19592680
nsv509319 CNV Insertion 20534489
nsv893759 CNV Loss 21882294
esv22321 CNV Gain 19812545
nsv893764 CNV Gain 21882294
esv2752277 CNV Gain 17911159
esv2462819 CNV Deletion 19546169
nsv831693 CNV Gain 17160897

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)

Relevant External Links for AKNA Gene

HapMap Linkage Disequilibrium report
AKNA

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

Disorders for AKNA Gene

Relevant External Links for AKNA

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

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. 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 Res. 2001) 2 3 4 67
  2. The human AKNA gene expresses multiple transcripts and protein isoforms as a result of alternative promoter usage, splicing, and polyadenylation. (PMID: 15869410) Sims-Mourtada J.C. … Martinez-Valdez H. (DNA Cell Biol. 2005) 3 23
  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. Cervical cancer-associated promoter polymorphism affects akna expression levels. (PMID: 25373726) MartA-nez-Nava G.A. … Burguete-GarcA-a A.I. (Genes Immun. 2015) 3
  5. Label-free proteomics reveals decreased expression of CD18 and AKNA in peripheral CD4+ T cells from patients with Vogt-Koyanagi-Harada syndrome. (PMID: 21297967) Mao L. … Kijlstra A. (PLoS ONE 2011) 3

Products for AKNA Gene

Sources for AKNA Gene

Content