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Aliases for AHNAK Gene

Aliases for AHNAK Gene

  • AHNAK Nucleoprotein 2 3 5
  • Desmoyokin 2 3 4
  • PM227 3 4
  • Neuroblast Differentiation-Associated Protein AHNAK 3
  • AHNAK Nucleoprotein (Desmoyokin) 2
  • AHNAK-Related 3

External Ids for AHNAK Gene

Previous GeneCards Identifiers for AHNAK Gene

  • GC11U990003
  • GC11M063859
  • GC11M062535
  • GC11M062059
  • GC11M062040
  • GC11M062202
  • GC11M058529

Summaries for AHNAK Gene

Entrez Gene Summary for AHNAK Gene

  • The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016]

GeneCards Summary for AHNAK Gene

AHNAK (AHNAK Nucleoprotein) is a Protein Coding gene. GO annotations related to this gene include poly(A) RNA binding and structural molecule activity conferring elasticity. An important paralog of this gene is AHNAK2.

UniProtKB/Swiss-Prot for AHNAK Gene

  • May be required for neuronal cell differentiation.

Gene Wiki entry for AHNAK Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AHNAK Gene

Genomics for AHNAK Gene

Regulatory Elements for AHNAK Gene

Enhancers for AHNAK 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
GH11F062838 0.2 ENCODE 18.5 -284.6 -284611 4.8 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 METTL12 UBXN1 LRRN4CL NXF1 TAF6L INTS5 IMMP1LP1 SNHG1 TTC9C STX5
GH11F062443 1.2 FANTOM5 Ensembl ENCODE 14.1 +111.2 111225 3.6 NRF1 BHLHE40 KLF17 SIN3A REST EBF1 RARA POLR2A ASRGL1 AHNAK SCGB1A1 ENSG00000255126 ENSG00000250659 LOC101927617 EEF1G TUT1 TTC9C FTH1
GH11F062496 1 FANTOM5 Ensembl ENCODE 13.3 +53.0 53031 13.5 PKNOX1 MLX ARID4B SIN3A DMAP1 YBX1 ZNF143 FOS DEK SP5 EEF1G NXF1 INTS5 METTL12 STX5 MTA2 AHNAK SNHG1 LOC105369332 ENSG00000250659
GH11F062514 0.6 ENCODE 11.8 +41.0 40984 1.5 ARID4B ZNF48 ZSCAN9 RAD21 RARA YY1 CREM MIXL1 THAP11 SP5 ENSG00000250659 LOC101927617 AHNAK EEF1G TUT1 LOC102723765 SCGB1A1 ENSG00000255126 ASRGL1 GC11P062515
GH11F062510 0.9 Ensembl 11.6 +45.5 45535 0.2 NFE2 ENSG00000250659 LOC101927617 AHNAK LOC102723765 SCGB1A1 ENSG00000255126 ASRGL1 EEF1G TUT1 GC11P062515
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around AHNAK on UCSC Golden Path with GeneCards custom track

Genomic Location for AHNAK Gene

62,433,542 bp from pter
62,556,235 bp from pter
122,694 bases
Minus strand

Genomic View for AHNAK Gene

Genes around AHNAK on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for AHNAK Gene

Proteins for AHNAK Gene

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

    Protein Symbol:
    Recommended name:
    Neuroblast differentiation-associated protein AHNAK
    Protein Accession:
    Secondary Accessions:
    • A1A586

    Protein attributes for AHNAK Gene

    5890 amino acids
    Molecular mass:
    629101 Da
    Quaternary structure:
    • Interacts with DYSF; the interaction is direct and Ca(2+)-independent.
    • Sequence=AAA69899.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AHNAK Gene

    Alternative splice isoforms for AHNAK Gene


neXtProt entry for AHNAK Gene

Post-translational modifications for AHNAK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cloud-Clone Corp. Antibodies for AHNAK

No data available for DME Specific Peptides for AHNAK Gene

Domains & Families for AHNAK Gene

Gene Families for AHNAK Gene

Protein Domains for AHNAK Gene


Graphical View of Domain Structure for InterPro Entry



  • Contains 1 PDZ (DHR) domain.
  • Contains 1 PDZ (DHR) domain.
genes like me logo Genes that share domains with AHNAK: view

Function for AHNAK Gene

Molecular function for AHNAK Gene

GENATLAS Biochemistry:
unusually large protein (700kDa),expressed in several cell lineages,repressed in neuroblastoma,with homology with desmosomal plaque protein (desmoyokin) in bovine
UniProtKB/Swiss-Prot Function:
May be required for neuronal cell differentiation.

Gene Ontology (GO) - Molecular Function for AHNAK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15607035
GO:0044548 S100 protein binding IPI 14699089
GO:0044822 poly(A) RNA binding IDA 22658674
GO:0097493 structural molecule activity conferring elasticity ISS 21940993
GO:0098641 cadherin binding involved in cell-cell adhesion IDA 25468996
genes like me logo Genes that share ontologies with AHNAK: view
genes like me logo Genes that share phenotypes with AHNAK: view

Animal Models for AHNAK Gene

MGI Knock Outs for AHNAK:

Animal Model Products

miRNA for AHNAK Gene

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for AHNAK Gene

Subcellular locations from UniProtKB/Swiss-Prot for AHNAK Gene

Subcellular locations from

Jensen Localization Image for AHNAK Gene COMPARTMENTS Subcellular localization image for AHNAK gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
lysosome 5
nucleus 5
plasma membrane 5
vacuole 5

Gene Ontology (GO) - Cellular Components for AHNAK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 1608957
GO:0005737 cytoplasm IDA 22057634
GO:0005765 lysosomal membrane IDA 17897319
GO:0005829 cytosol ISS 21940993
GO:0005886 plasma membrane IDA 21940993
genes like me logo Genes that share ontologies with AHNAK: view

Pathways & Interactions for AHNAK Gene

SuperPathways for AHNAK Gene

No Data Available

Gene Ontology (GO) - Biological Process for AHNAK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043484 regulation of RNA splicing ISS 21940993
GO:0051259 protein oligomerization ISS 21940993
GO:0098609 cell-cell adhesion IEA --
GO:1901385 regulation of voltage-gated calcium channel activity IMP 22038483
genes like me logo Genes that share ontologies with AHNAK: view

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

Drugs & Compounds for AHNAK Gene

(1) Drugs for AHNAK Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with AHNAK: view

Transcripts for AHNAK Gene

Unigene Clusters for AHNAK Gene

AHNAK nucleoprotein:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for AHNAK Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AHNAK Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AHNAK Gene

This gene is overexpressed in Bone marrow stromal cell (13.9).

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

Protein tissue co-expression partners for AHNAK Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AHNAK Gene:


SOURCE GeneReport for Unigene cluster for AHNAK Gene:

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

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AHNAK Gene

Orthologs for AHNAK Gene

This gene was present in the common ancestor of chordates.

Orthologs for AHNAK Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AHNAK 34 35
  • 99.26 (n)
(Rattus norvegicus)
Mammalia Ahnak 34
  • 80.9 (n)
(Mus musculus)
Mammalia Ahnak 34 16 35
  • 78.53 (n)
(Bos Taurus)
Mammalia AHNAK 34 35
  • 77.95 (n)
(Canis familiaris)
Mammalia AHNAK 34 35
  • 76.58 (n)
(Monodelphis domestica)
Mammalia AHNAK 35
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia AHNAK 35
  • 71 (a)
(Gallus gallus)
Aves AHNAK 35
  • 67 (a)
(Anolis carolinensis)
Reptilia AHNAK 35
  • 59 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ahnak 34
  • 62.33 (n)
(Danio rerio)
Actinopterygii ahnak 34 35
  • 60.3 (n)
Species where no ortholog for AHNAK 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AHNAK Gene

Gene Tree for AHNAK (if available)
Gene Tree for AHNAK (if available)

Paralogs for AHNAK Gene

Paralogs for AHNAK Gene

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

Variants for AHNAK Gene

Sequence variations from dbSNP and Humsavar for AHNAK Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs143391519 Uncertain significance 62,526,855(+) AGCCA(C/G)GCATG intron-variant, reference, missense
rs200438956 Uncertain significance 62,527,878(+) GGGTC(C/T)TGAAG intron-variant, reference, missense
rs1050059 -- 62,515,978(-) CCAGC(A/C)CTTTA intron-variant, utr-variant-3-prime
rs10608015 -- 62,506,014(+) CTACC(-/A)AAAAA intron-variant
rs10616715 -- 62,479,469(+) GCCCC(-/TT)TTTTT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv203e214 CNV gain 21293372
esv2661140 CNV deletion 23128226
esv2661679 CNV deletion 23128226
esv2671635 CNV deletion 23128226
esv2673066 CNV deletion 23128226
esv2674790 CNV deletion 23128226
esv2744605 CNV deletion 23290073
esv3448450 CNV insertion 20981092
esv3547881 CNV deletion 23714750
esv3584599 CNV gain 24956385
esv3626607 CNV loss 21293372
esv3626608 CNV loss 21293372
esv3626609 CNV loss 21293372
nsv1119884 CNV deletion 24896259
nsv345 CNV deletion 18451855
nsv346 CNV insertion 18451855
nsv347 CNV deletion 18451855
nsv832180 CNV loss 17160897
nsv832182 CNV gain+loss 17160897

Variation tolerance for AHNAK Gene

Residual Variation Intolerance Score: 97.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.74; 96.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AHNAK Gene

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

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

Disorders for AHNAK Gene

Relevant External Links for AHNAK

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for AHNAK Gene.

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

Publications for AHNAK Gene

  1. A human gene (AHNAK) encoding an unusually large protein with a 1.2- microns polyionic rod structure. (PMID: 1608957) Shtivelman E. … Bishop J.M. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4 22 64
  2. Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. (PMID: 18334579) Huang Y. … van der Maarel S.M. (Hum. Mol. Genet. 2008) 3 22 64
  3. AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. (PMID: 17185750) Huang Y. … van der Maarel S.M. (FASEB J. 2007) 3 4 64
  4. AHNAK-mediated activation of phospholipase C-gamma1 through protein kinase C. (PMID: 15033986) Lee I.H. … Bae Y.S. (J. Biol. Chem. 2004) 3 22 64
  5. AHNAK interacts with the DNA ligase IV-XRCC4 complex and stimulates DNA ligase IV-mediated double-stranded ligation. (PMID: 15177040) Stiff T. … Kysela B. (DNA Repair (Amst.) 2004) 3 22 64

Products for AHNAK Gene

Sources for AHNAK Gene

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