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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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F114360 1.1 FANTOM5 Ensembl ENCODE 26.1 +22.4 22416 30.6 HDGF PKNOX1 WRNIP1 ZFP64 SIN3A YBX1 BRCA1 ZNF121 ELK1 ZNF143 WHRN AKNA TMEM268 ENSG00000201749 ORM1 ORM2 ATP6V1G1 ENSG00000235119
GH09F114394 1 ENCODE 11.2 +1.9 1880 4.9 PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 SP3 NFYC MXD4 AKNA WHRN ENSG00000235119 ORM2
GH09F114405 0.9 Ensembl ENCODE 10.6 -7.3 -7251 0.8 CTCF ZNF654 TEAD4 ARID4B TRIM22 REST ZNF2 RAD21 ZNF664 POLR2A WHRN AKNA LOC100131877
GH09F114413 1.2 FANTOM5 Ensembl ENCODE 10 -15.8 -15824 2.3 ZNF316 NR2F2 TNFSF15 WHRN TMEM268 ENSG00000201749 AKNA ATP6V1G1 LOC100131877
GH09F114400 0.4 ENCODE 6.4 -2.9 -2851 0.9 GATAD2A ELF3 DRAP1 PKNOX1 SAP130 ZMYM3 TEAD3 PBX2 THAP11 RXRB WHRN AKNA LOC100131877
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00001474239 351 1601 PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF121 GLIS2 ELK1

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

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.

Gene Ontology (GO) - Molecular Function for AKNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 11268217
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding 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

Inhibitory RNA Products

Flow Cytometry 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

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:0005634 nucleus IEA --
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

Interacting Proteins for AKNA Gene

Gene Ontology (GO) - Biological Process for AKNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IDA 11268217
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

Transcripts for AKNA Gene

Unigene Clusters for AKNA Gene

AT-hook transcription factor:
Representative Sequences:

Inhibitory RNA Products

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

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
chimpanzee
(Pan troglodytes)
Mammalia AKNA 34 35
  • 96.86 (n)
dog
(Canis familiaris)
Mammalia AKNA 34 35
  • 79.91 (n)
cow
(Bos Taurus)
Mammalia AKNA 34 35
  • 79.76 (n)
mouse
(Mus musculus)
Mammalia Akna 34 16 35
  • 71.57 (n)
rat
(Rattus norvegicus)
Mammalia Akna 34
  • 71.57 (n)
oppossum
(Monodelphis domestica)
Mammalia AKNA 35
  • 36 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AKNA 35
  • 32 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AKNA 35
  • 47 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii AKNA 35
  • 23 (a)
OneToOne
Dr.16413 34
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)

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
rs10119644 -- 114,367,312(+) ATGCA(A/T)TGCCA intron-variant
rs10122672 -- 114,360,490(+) AATAC(C/T)TTCAA intron-variant
rs10123473 -- 114,361,146(+) TCTAC(A/G)TGACC intron-variant
rs10125969 -- 114,364,027(+) CCCCA(C/T)TTTTT intron-variant
rs1038776 -- 114,338,965(+) TGAAC(A/G)GGCTT 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)

Relevant External Links for AKNA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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. 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 4 22 64
  2. 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 64
  3. 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 64
  4. 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 2010) 3 46 64
  5. 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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for AKNA Gene

Sources for AKNA Gene

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