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Aliases for AHNAK2 Gene

Aliases for AHNAK2 Gene

  • AHNAK Nucleoprotein 2 2 3 5
  • C14orf78 3 4
  • Chromosome 14 Open Reading Frame 78 2
  • 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. 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

Enhancers for AHNAK2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AHNAK2 on UCSC Golden Path with GeneCards custom track

Promoters for AHNAK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AHNAK2 on UCSC Golden Path with GeneCards custom track

Genomic Location for AHNAK2 Gene

Chromosome:
14
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

Genes around AHNAK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AHNAK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • Homodimer (via PDZ domain) (PubMed:24675079). Interacts with DYSF; the interaction is direct and Ca(2+)-independent (PubMed:17185750).
    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 & Families for AHNAK2 Gene

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

Function for AHNAK2 Gene

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

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
plasma membrane 5
cytosol 4
nucleus 4

Gene Ontology (GO) - Cellular Components for AHNAK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA --
GO:0030018 Z disc IEA,ISS 21940993
GO:0030315 T-tubule IEA,NAS 17185750
GO:0030659 cytoplasmic vesicle membrane IEA,ISS 21940993
GO:0043034 costamere IEA,ISS 21940993
genes like me logo Genes that share ontologies with AHNAK2: view

Pathways & Interactions for AHNAK2 Gene

SuperPathways for AHNAK2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AHNAK2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for AHNAK2 Gene

Drugs & Compounds for AHNAK2 Gene

No Compound Related Data Available

Transcripts for AHNAK2 Gene

mRNA/cDNA for AHNAK2 Gene

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

Unigene Clusters for AHNAK2 Gene

AHNAK nucleoprotein 2:
Representative Sequences:

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x8.1) and Skin - Not Sun Exposed (Suprapubic) (x7.9).

Protein differential expression in normal tissues from HIPED for AHNAK2 Gene

This gene is overexpressed in Bone marrow stromal cell (11.4), Spinal cord (8.1), and Amniocyte (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for AHNAK2 Gene



SOURCE GeneReport for Unigene cluster for AHNAK2 Gene Hs.441783

genes like me logo Genes that share expression patterns with AHNAK2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
dog
(Canis familiaris)
Mammalia LOC490881 35
  • 71.73 (n)
  • 62.42 (a)
AHNAK2 36
  • 55 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ahnak2 35
  • 71.83 (n)
  • 64.06 (a)
Ahnak2 16
chimpanzee
(Pan troglodytes)
Mammalia AHNAK2 35
  • 93.72 (n)
  • 90.44 (a)
AHNAK2 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ahnak2 35
  • 69.25 (n)
  • 59.71 (a)
oppossum
(Monodelphis domestica)
Mammalia AHNAK2 36
  • 29 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 44 (a)
OneToMany
-- 36
  • 27 (a)
OneToMany
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
rs11850930 - 104,949,627(+) TGTCA(C/T)TTCCG reference, missense
rs12890949 -, -, - 104,949,015(+) AGTCA(C/G/T)GTCCT reference, missense
rs2582514 -, - 104,946,867(-) ACATC(A/C/T)GCATT reference, missense
rs11160826 -, - 104,945,923(+) CTCAG(C/G/T)TCGGC reference, missense
rs2819426 -, - 104,945,922(+) GCTCA(C/G/T)GTCGG reference, missense

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

Variation tolerance for AHNAK2 Gene

Residual Variation Intolerance Score: 100% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 32.50; 99.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AHNAK2 Gene

Human Gene Mutation Database (HGMD)
AHNAK2

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

Disorders for AHNAK2 Gene

Relevant External Links for AHNAK2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AHNAK2

No disorders were found for AHNAK2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AHNAK2 Gene

Publications for AHNAK2 Gene

  1. Periaxin and AHNAK nucleoprotein 2 form intertwined homodimers through domain swapping. (PMID: 24675079) Han H. … Kursula P. (J. Biol. Chem. 2014) 3 4 67
  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. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for AHNAK2 Gene

Sources for AHNAK2 Gene

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