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Aliases for AHNAK2 Gene

Aliases for AHNAK2 Gene

  • AHNAK Nucleoprotein 2 2 3
  • C14orf78 3 4
  • Chromosome 14 Open Reading Frame 78 2
  • Protein AHNAK2 3
  • KIAA2019 4

External Ids for AHNAK2 Gene

Previous HGNC Symbols for AHNAK2 Gene

  • C14orf78

Previous GeneCards Identifiers for AHNAK2 Gene

  • GC14M104476
  • GC14M105556
  • GC14M105561
  • GC14M085597
  • GC14M105564
  • GC14M105569
  • GC14M105574
  • GC14M105580
  • GC14M105594
  • GC14M105601
  • GC14M105609

Summaries for AHNAK2 Gene

GeneCards Summary for AHNAK2 Gene

AHNAK2 (AHNAK Nucleoprotein 2) is a Protein Coding gene. Diseases associated with AHNAK2 include skeletal muscle regeneration. An important paralog of this gene is AHNAK.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AHNAK2 Gene

Genomics for AHNAK2 Gene

Regulatory Elements for AHNAK2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for AHNAK2 Gene

Start:
104,937,244 bp from pter
End:
104,978,357 bp from pter
Size:
41,114 bases
Orientation:
Minus strand

Genomic View for AHNAK2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AHNAK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AHNAK2 Gene

Proteins for AHNAK2 Gene

  • Protein details for AHNAK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IVF2-AHNK2_HUMAN
    Recommended name:
    Protein AHNAK2
    Protein Accession:
    Q8IVF2
    Secondary Accessions:
    • Q5BKX7
    • Q7Z343
    • Q7Z358
    • Q7Z394
    • Q7Z3G0
    • Q86WQ6
    • Q8IYY1
    • Q8N3G4
    • Q96EX9

    Protein attributes for AHNAK2 Gene

    Size:
    5795 amino acids
    Molecular mass:
    616629 Da
    Quaternary structure:
    • Interacts with DYSF; the interaction is direct and Ca(2+)-independent.
    SequenceCaution:
    • Sequence=AAH49216.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH90889.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC23115.1; Type=Frameshift; Positions=3008; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AHNAK2 Gene

    Alternative splice isoforms for AHNAK2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AHNAK2 Gene

Proteomics data for AHNAK2 Gene at MOPED

Post-translational modifications for AHNAK2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AHNAK2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AHNAK2 Gene

Domains for AHNAK2 Gene

Protein Domains for AHNAK2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AHNAK2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IVF2

UniProtKB/Swiss-Prot:

AHNK2_HUMAN :
  • Q8IVF2
Domain:
  • Contains 1 PDZ (DHR) domain.
genes like me logo Genes that share domains with AHNAK2: view

No data available for Gene Families for AHNAK2 Gene

Function for AHNAK2 Gene

Gene Ontology (GO) - Molecular Function for AHNAK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17185750
genes like me logo Genes that share ontologies with AHNAK2: view

Phenotypes for AHNAK2 Gene

genes like me logo Genes that share phenotypes with AHNAK2: view

Animal Model Products

CRISPR Products

miRNA for AHNAK2 Gene

miRTarBase miRNAs that target AHNAK2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for AHNAK2 Gene

Localization for AHNAK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AHNAK2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AHNAK2 Gene COMPARTMENTS Subcellular localization image for AHNAK2 gene
Compartment Confidence
cytosol 4
plasma membrane 4
nucleus 3

Gene Ontology (GO) - Cellular Components for AHNAK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm NAS 17185750
GO:0005886 plasma membrane IDA --
GO:0030018 Z disc ISS 21940993
GO:0030315 T-tubule NAS 17185750
genes like me logo Genes that share ontologies with AHNAK2: view

Pathways for AHNAK2 Gene

SuperPathways for AHNAK2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AHNAK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001778 NOT plasma membrane repair ISS 21940993
genes like me logo Genes that share ontologies with AHNAK2: view

No data available for Pathways by source for AHNAK2 Gene

Transcripts for AHNAK2 Gene

mRNA/cDNA for AHNAK2 Gene

(12) Selected AceView cDNA sequences:
(15) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AHNAK2 Gene

AHNAK nucleoprotein 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AHNAK2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for AHNAK2
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AHNAK2 Gene

No ASD Table

Relevant External Links for AHNAK2 Gene

GeneLoc Exon Structure for
AHNAK2
ECgene alternative splicing isoforms for
AHNAK2

Expression for AHNAK2 Gene

mRNA expression in normal human tissues for AHNAK2 Gene

mRNA differential expression in normal tissues according to GTEx for AHNAK2 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (8.1) and Skin - Not Sun Exposed (Suprapubic) (7.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AHNAK2 Gene

SOURCE GeneReport for Unigene cluster for AHNAK2 Gene Hs.441783

genes like me logo Genes that share expressions with AHNAK2: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for AHNAK2 Gene

Orthologs for AHNAK2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AHNAK2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AHNAK2 35
  • 93.72 (n)
  • 90.44 (a)
AHNAK2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AHNAK2 36
  • 55 (a)
OneToOne
LOC490881 35
  • 71.73 (n)
  • 62.42 (a)
mouse
(Mus musculus)
Mammalia Ahnak2 35
  • 71.83 (n)
  • 64.06 (a)
oppossum
(Monodelphis domestica)
Mammalia AHNAK2 36
  • 29 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 44 (a)
OneToMany
-- 36
  • 27 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ahnak2 35
  • 69.25 (n)
  • 59.71 (a)
chicken
(Gallus gallus)
Aves AHNAK2 35
  • 48.52 (n)
  • 36.67 (a)
AHNAK2 36
  • 20 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 26 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii ahnak 36
  • 13 (a)
OneToMany
Species with no ortholog for AHNAK2:
  • 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)
  • cow (Bos Taurus)
  • 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 AHNAK2 Gene

ENSEMBL:
Gene Tree for AHNAK2 (if available)
TreeFam:
Gene Tree for AHNAK2 (if available)

Paralogs for AHNAK2 Gene

Paralogs for AHNAK2 Gene

genes like me logo Genes that share paralogs with AHNAK2: view

Variants for AHNAK2 Gene

Sequence variations from dbSNP and Humsavar for AHNAK2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs733130 -- 104,956,243(+) TGGCC(C/T)TTTCA intron-variant
rs736066 -- 104,969,312(+) GTGCC(A/G)TCCAT intron-variant
rs748358 - 104,938,256(-) AATCA(C/G/T)GTTTT reference, missense
rs879209 -- 104,954,713(-) AAACC(A/C)AGGGT reference, synonymous-codon
rs879210 -- 104,954,590(-) GAACC(C/T)AGGGA synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for AHNAK2 Gene

Variant ID Type Subtype PubMed ID
dgv2019n71 CNV Loss 21882294
esv25274 CNV Gain 19812545
nsv821194 CNV Deletion 20802225
dgv390n67 CNV Gain 20364138
esv2749254 CNV Deletion 23290073
esv2749255 CNV Deletion 23290073
nsv902421 CNV Loss 21882294
esv2749256 CNV Deletion 23290073
nsv1438 CNV Loss 18451855
esv2749257 CNV Deletion 23290073
esv2588764 CNV Loss 19546169
esv2749258 CNV Deletion 23290073
esv2749259 CNV Deletion 23290073
esv2664692 CNV Deletion 23128226
dgv309e201 CNV Deletion 23290073
esv2749261 CNV Deletion 23290073
dgv310e201 CNV Deletion 23290073
esv2749265 CNV Deletion 23290073
esv2078334 CNV Deletion 18987734
esv2749268 CNV Deletion 23290073
esv2749269 CNV Deletion 23290073
esv2749270 CNV Deletion 23290073
esv2749271 CNV Deletion 23290073
esv2749272 CNV Deletion 23290073
dgv2020n71 CNV Loss 21882294
nsv456458 CNV Loss 19166990
nsv902424 CNV Loss 21882294

Relevant External Links for AHNAK2 Gene

HapMap Linkage Disequilibrium report
AHNAK2
Human Gene Mutation Database (HGMD)
AHNAK2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AHNAK2 Gene

Disorders for AHNAK2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for AHNAK2 Gene including...

Search for AHNAK2 Gene in MalaCards »
genes like me logo Genes that share disorders with AHNAK2: view

No data available for UniProtKB/Swiss-Prot for AHNAK2 Gene

Publications for AHNAK2 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  2. The AHNAKs are a class of giant propeller-like proteins that associate with calcium channel proteins of cardiomyocytes and other cells. (PMID: 15007166) Komuro A. … Marchesi V.T. (Proc. Natl. Acad. Sci. U.S.A. 2004) 2 3
  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
  4. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PMID: 21139048) Danielsen J.M. … Nielsen M.L. (Mol. Cell Proteomics 2011) 3
  5. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PMID: 21906983) Kim W. … Gygi S.P. (Mol. Cell 2011) 3

Products for AHNAK2 Gene

Sources for AHNAK2 Gene

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