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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. Diseases associated with AHNAK include Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2B and Hirschsprung Disease 1. Gene Ontology (GO) annotations related to this gene include 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

GeneHancer (GH) Regulatory Elements for AHNAK Gene

Promoters and enhancers for AHNAK Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J062537 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 654.9 +12.3 12322 11.9 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF143 ZNF263 SP3 AHNAK EML3 NXF1 STX5 TTC9C SNHG1 TAF6L MTA2 LOC105369332 CSKMT
GH11J062551 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 652.9 -0.9 -941 12.9 CLOCK FEZF1 DMAP1 YBX1 IRF4 E2F8 ZNF143 SP3 NFYC MEF2D AHNAK EML3 MTA2 TUT1 TAF6L NXF1 LOC105369332 WDR74 STX5 INTS5
GH11J062838 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 10 -284.6 -284611 4.8 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 WDR74 GC11M062842 RNU2-2P NXF1 CSKMT INTS5 SNHG1 UBXN1 MTA2 GANAB
GH11J062878 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.5 -325.6 -325598 5.9 CLOCK DMAP1 YY1 ZNF213 ZNF143 SP3 MEF2D SSRP1 GLIS1 NBN SLC3A2 SNHG1 CSKMT TAF6L GANAB NXF1 TTC9C EML3 STX5 INTS5
GH11J062610 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.8 -56.5 -56528 5.3 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 ZNF207 ZNF143 FOS DEK EML3 GC11P062612 GC11P062614 ROM1 INTS5 CSKMT GANAB TUT1 WDR74 STX5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AHNAK on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AHNAK gene promoter:
  • HTF
  • Spz1
  • Egr-2
  • FOXD3
  • LUN-1
  • Hlf
  • RelA
  • Pax-5
  • Elk-1
  • Bach1

Genomic Locations for AHNAK Gene

Genomic Locations for AHNAK Gene
122,694 bases
Minus strand
122,692 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

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

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 IBA --
GO:0005515 protein binding IEA,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:

Animal Model Products

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 HDA 17897319
GO:0005829 cytosol ISS,IEA 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 complex oligomerization IEA,ISS 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, 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 34 33
  • 99.26 (n)
(Rattus norvegicus)
Mammalia Ahnak 33
  • 80.9 (n)
(Mus musculus)
Mammalia Ahnak 16 34 33
  • 78.53 (n)
(Bos Taurus)
Mammalia AHNAK 34 33
  • 77.95 (n)
(Canis familiaris)
Mammalia AHNAK 34 33
  • 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 34 33
  • 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)
Evolutionary constrained regions (ECRs) for AHNAK: view image

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 Variation AA Info Type
rs143391519 uncertain-significance, Hirschsprung disease 1 62,526,855(-) G/C coding_sequence_variant, intron_variant, missense_variant
rs200438956 uncertain-significance, Hirschsprung disease 1 62,527,878(-) T/C coding_sequence_variant, intron_variant, missense_variant
rs1000023135 -- 62,456,845(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000026997 -- 62,498,612(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000034819 -- 62,543,973(-) TCTGTCTGTCT/TCTGTCT 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)

Additional Variant Information for AHNAK Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AHNAK Gene

MalaCards: The human disease database

(2) MalaCards diseases for AHNAK Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autosomal recessive limb-girdle muscular dystrophy type 2b
  • muscular dystrophy, limb-girdle, type 2b
hirschsprung disease 1
  • hirschsprung disease, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search AHNAK in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AHNAK

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

No data available for 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 58
  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 58
  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 58
  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 58
  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 58

Products for AHNAK Gene

Sources for AHNAK Gene

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