AHNAK Gene (Protein Coding)

AHNAK Nucleoprotein

GC11M063868
GIFtS:
38
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 th... See more...

Aliases for AHNAK Gene

Aliases for AHNAK Gene

  • AHNAK Nucleoprotein 2 3 5
  • Desmoyokin 2 3 4
  • Neuroblast Differentiation-Associated Protein AHNAK 3 4
  • PM227 3 4
  • AHNAK Nucleoprotein (Desmoyokin) 2
  • AHNAK-Related 3
  • AHNAKRS 3
  • MGC5395 2
  • AHNAK 5

External Ids for AHNAK Gene

Previous GeneCards Identifiers for AHNAK Gene

  • GC11U990003
  • GC11M063859
  • GC11M062535
  • GC11M062059
  • GC11M062040
  • GC11M062202
  • GC11M058529
  • GC11M062495
  • GC11M062503
  • GC11M062511
  • GC11M063363

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 Miyoshi Muscular Dystrophy and Neuroblastoma. Among its related pathways are Phospholipase-C Pathway and Salmonella infection (KEGG). 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 Summary for AHNAK Gene

Gene Wiki entry for AHNAK Gene

Additional gene information for AHNAK Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AHNAK Gene

Genomics for AHNAK Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for AHNAK Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AHNAK

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

Genomic Locations for AHNAK Gene

Latest Assembly
chr11:62,433,542-62,556,235
(GRCh38/hg38)
Size:
122,694 bases
Orientation:
Minus strand

Previous Assembly
chr11:62,201,016-62,314,278
(GRCh37/hg19 by Entrez Gene)
Size:
113,263 bases
Orientation:
Minus strand

chr11:62,201,016-62,323,707
(GRCh37/hg19 by Ensembl)
Size:
122,692 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for AHNAK Gene

Proteins for AHNAK Gene

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  3. Assay products for research

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

    Protein Symbol:
    Q09666-AHNK_HUMAN
    Recommended name:
    Neuroblast differentiation-associated protein AHNAK
    Protein Accession:
    Q09666
    Secondary Accessions:
    • A1A586

    Protein attributes for AHNAK Gene

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

    Three dimensional structures from OCA and Proteopedia for AHNAK Gene

    Alternative splice isoforms for AHNAK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AHNAK Gene

Protein Expression for AHNAK Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AHNAK Gene

  • Glycosylation at Ser5603
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for AHNAK Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for AHNAK

No data available for DME Specific Peptides for AHNAK Gene

Domains & Families for AHNAK Gene

Gene Families for AHNAK Gene

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

Protein Domains for AHNAK Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AHNAK Gene

GenScript: Design optimal peptide antigens:
  • Desmoyokin (AHNK_HUMAN)
  • cDNA FLJ33834 fis, clone CTONG2004264, moderately similar to NEUROBLAST DIFFERENTIATION ASSOCIATED PROTEIN AHNAK (Q8N274_HUMAN)
  • AHNAK nucleoprotein (Q96EC4_HUMAN)
  • AHNAK protein (Q9BVU3_HUMAN)
genes like me logo Genes that share domains with AHNAK: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for AHNAK Gene

Function for AHNAK Gene

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  6. Cell Lines for research

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 HDA 22658674
GO:0005515 protein binding IEA,IPI 15607035
GO:0042802 identical protein binding IPI --
GO:0044548 S100 protein binding IPI 14699089
GO:0045296 cadherin binding HDA 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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AHNAK

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

Nucleus.

Subcellular locations from

COMPARTMENTS
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 4
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AHNAK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,NAS 1608957
GO:0005737 cytoplasm IBA,IDA 22057634
GO:0005765 lysosomal membrane HDA 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

PathCards logo

SuperPathways for AHNAK Gene

SuperPathway Contained pathways
1 Salmonella infection (KEGG)
Salmonella infection
.31
2 Phospholipase-C Pathway
Phospholipase-C Pathway
.56
genes like me logo Genes that share pathways with AHNAK: view

Pathways by source for AHNAK Gene

1 KEGG pathway for AHNAK Gene
1 Qiagen pathway for AHNAK Gene
  • Phospholipase-C Pathway

SIGNOR curated interactions for AHNAK Gene

Other effect:

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:1901385 regulation of voltage-gated calcium channel activity IMP 22038483
genes like me logo Genes that share ontologies with AHNAK: view

Drugs & Compounds for AHNAK Gene

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  1. Drug products for research

(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

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  3. Inhibitory RNAs for research
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mRNA/cDNA for AHNAK Gene

4 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AHNAK

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

No ASD Table

Relevant External Links for AHNAK Gene

GeneLoc Exon Structure for
AHNAK

Expression for AHNAK Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for AHNAK Gene
mRNA expression by BioGPS for AHNAK GenemRNA expression by GTEx 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AHNAK

SOURCE GeneReport for Unigene cluster for AHNAK Gene:

Hs.502756

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(4.5)
  • Nervous system(3.9)
  • Skin(3.8)
  • Eye(3.8)
  • Kidney(3.6)
  • Muscle(3.6)
  • Stomach(3.5)
  • Lymph node(2.2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with AHNAK: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
 Mammalia AHNAK 30 31
  • 99.26 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ahnak 30
  • 80.9 (n)
Mouse
(Mus musculus)
 Mammalia Ahnak 30 17 31
  • 78.53 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia AHNAK 30 31
  • 77.95 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia AHNAK 30 31
  • 76.58 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia AHNAK 31
  • 74 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia AHNAK 31
  • 71 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves AHNAK 31
  • 67 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia AHNAK 31
  • 59 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ahnak 30
  • 62.33 (n)
Zebrafish
(Danio rerio)
 Actinopterygii ahnak 30 31
  • 60.3 (n)
 OneToMany
Species where no ortholog for AHNAK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for AHNAK (if available)
TreeFam:
Gene Tree for AHNAK (if available)
Aminode:
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

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AHNAK Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs111551528 Benign: not provided 62,517,320(-) C/T
NM_001620.3(AHNAK):c.17097G>A (p.Glu5699=) 		SYNONYMOUS_VARIANT,INTRON
rs112663036 Benign: not provided 62,518,099(-) C/T
NM_001620.3(AHNAK):c.16318G>A (p.Val5440Met) 		MISSENSE_VARIANT,INTRON
rs114078400 Benign: not provided 62,529,848(-) A/G
NM_001620.3(AHNAK):c.4569T>C (p.Phe1523=) 		SYNONYMOUS_VARIANT,INTRON
rs114187073 Benign: not provided 62,533,241(-) C/T
NM_001620.3(AHNAK):c.1176G>A (p.Gln392=) 		SYNONYMOUS_VARIANT,INTRON
rs114233286 Benign: not provided 62,529,938(-) A/G
NM_001620.3(AHNAK):c.4479T>C (p.Asp1493=) 		SYNONYMOUS_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AHNAK Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
AHNAK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AHNAK

SNP Genotyping and Copy Number Assays for research

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

Disorders for AHNAK Gene

MalaCards: The human disease database

(4) MalaCards diseases for AHNAK Gene - From: COP and GCD

Disorder Aliases PubMed IDs
miyoshi muscular dystrophy
  • miyoshi myopathy
neuroblastoma
  • nb
autosomal recessive limb-girdle muscular dystrophy type 2b
  • lgmd2b
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

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 23
  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 23
  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
  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 23
  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 23

ExternalLinks

View latest publications for AHNAK gene in Mastermind

Products for AHNAK Gene

Sources for AHNAK Gene