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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

Additional gene information for AHNAK Gene

No data available for CIViC summary , 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
GH11H062504 1.8 FANTOM5 Ensembl ENCODE dbSUPER 22.3 +49.2 49247 5.9 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 GATA2 ZNF143 FOS MXD4 SMARCB1 AHNAK ENSG00000250659 ENSG00000257058 LOC102723765 SCGB1A1 ENSG00000255126 ASRGL1 EEF1G ENSG00000255508 TUT1
GH11H062838 1.5 ENCODE dbSUPER 18.7 -284.6 -284611 4.8 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 ZC3H11A NFYC UBXN1 METTL12 WDR74 NXF1 SNHG1 INTS5 LOC105369332 STX5 MTA2 GANAB
GH11H062498 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.3 +54.9 54909 4.7 HDGF PKNOX1 ATF1 FOXA2 ARNT ARID4B ZNF121 GATA2 ATF7 NFYC AHNAK ENSG00000250659 ENSG00000257058 SCGB1A1 ENSG00000255126 ASRGL1 LOC102723765 EEF1G TUT1 ENSG00000255508
GH11H062443 1.5 FANTOM5 Ensembl ENCODE dbSUPER 14.1 +111.1 111095 3.4 FOXA2 RFX1 NRF1 BHLHE40 KLF17 MNT EBF1 RARA POLR2A HNF4A ASRGL1 AHNAK SCGB1A1 ENSG00000255126 ENSG00000250659 ENSG00000257058 EEF1G ENSG00000255508 TUT1 TTC9C
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AHNAK on UCSC Golden Path with GeneCards custom track

Genomic Locations for AHNAK Gene

Genomic Locations for AHNAK Gene
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

No data available for DME Specific Peptides for AHNAK Gene

Domains & Families for AHNAK Gene

Gene Families for AHNAK Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for AHNAK Gene


Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for AHNAK Gene

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.

Phenotypes From GWAS Catalog for AHNAK Gene

Gene Ontology (GO) - Molecular Function for AHNAK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0005515 protein binding IPI 15607035
GO:0044548 S100 protein binding IPI 14699089
GO:0045296 cadherin binding IDA 25468996
GO:0097493 structural molecule activity conferring elasticity ISS 21940993
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:

miRNA for AHNAK Gene

Clone 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

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 AHNAK gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
lysosome 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

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 IEA,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 IEA,ISS 21940993
GO:0051259 protein oligomerization ISS,IEA 21940993
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:

Clone 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 CGAP 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, PaxDb, 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:


Evidence on tissue expression from TISSUES for AHNAK Gene

  • Adrenal gland(5)
  • Gall bladder(5)
  • Heart(5)
  • Intestine(5)
  • Liver(5)
  • Lung(5)
  • Pancreas(5)
  • Blood(4.2)
  • Skin(3.6)
  • Nervous system(3.6)
  • Eye(3.5)
  • Muscle(3.4)
  • Stomach(3.3)
  • Kidney(3.1)
genes like me logo Genes that share expression patterns with AHNAK: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.26 (n)
(Rattus norvegicus)
Mammalia Ahnak 33
  • 80.9 (n)
(Mus musculus)
Mammalia Ahnak 33 16 34
  • 78.53 (n)
(Bos Taurus)
Mammalia AHNAK 33 34
  • 77.95 (n)
(Canis familiaris)
Mammalia AHNAK 33 34
  • 76.58 (n)
(Monodelphis domestica)
Mammalia AHNAK 34
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia AHNAK 34
  • 71 (a)
(Gallus gallus)
Aves AHNAK 34
  • 67 (a)
(Anolis carolinensis)
Reptilia AHNAK 34
  • 59 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ahnak 33
  • 62.33 (n)
(Danio rerio)
Actinopterygii ahnak 33 34
  • 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
rs1000023135 -- 62,456,845(+) CCTTT(C/T)TTCTC intron-variant
rs1000026997 -- 62,498,612(+) AAAAA(A/G)AAGAA intron-variant
rs1000034819 -- 62,543,973(+) GTCTC(-/TCTG)TCTGT intron-variant

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

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

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 JM (Proceedings of the National Academy of Sciences of the United States of America 1992) 3 4 22 60
  2. Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. (PMID: 18334579) Huang Y … van der Maarel SM (Human molecular genetics 2008) 3 22 60
  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 SM (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2007) 3 4 60
  4. AHNAK-mediated activation of phospholipase C-gamma1 through protein kinase C. (PMID: 15033986) Lee IH … Bae YS (The Journal of biological chemistry 2004) 3 22 60
  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 2004) 3 22 60

Products for AHNAK Gene

Sources for AHNAK Gene

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