This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-terminal PSD-95/Discs-large/ZO-1 (PDZ)-like domain is thought to function in the formation of stable homodimers. The encoded protein may play a role in calcium signaling by associatin... See more...

Aliases for AHNAK2 Gene

Aliases for AHNAK2 Gene

  • AHNAK Nucleoprotein 2 2 3 5
  • Protein AHNAK2 3 4
  • 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

Entrez Gene Summary for AHNAK2 Gene

  • This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-terminal PSD-95/Discs-large/ZO-1 (PDZ)-like domain is thought to function in the formation of stable homodimers. The encoded protein may play a role in calcium signaling by associating with calcium channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]

GeneCards Summary for AHNAK2 Gene

AHNAK2 (AHNAK Nucleoprotein 2) is a Protein Coding gene. An important paralog of this gene is AHNAK.

Additional gene information for AHNAK2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AHNAK2 Gene

Genomics for AHNAK2 Gene

GeneHancer (GH) Regulatory Elements for AHNAK2 Gene

Promoters and enhancers for AHNAK2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J104953 Promoter 0.3 EPDnew 500.4 +24.4 24424 0.1 AHNAK2 HSALNG0104171-003 piR-39523
GH14J104966 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.3 +5.7 5715 12.7 ZNF217 CTCF TCF12 PHF8 JUND FOS ZFX ZNF10 ZIC2 REST CLBA1 MTA1 AHNAK2 CDCA4 GPR132 IGHE CEP170B INF2 JAG2 piR-39523
GH14J105058 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.4 -84.8 -84811 10 SIN3A USF1 SP1 POLR2A RELA MEF2C TOE1 RCOR1 RUNX1 TRIM22 GPR132 AHNAK2 CDCA4 JAG2 NUDT14 CLBA1 TEDC1 PLD4 BRF1 lnc-GPR132-1
GH14J105013 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12 -43.0 -42985 14.8 RXRA CTCF ZSCAN5C SIN3A NRF1 TCF12 POLR2G USF1 SP1 PHF8 CDCA4 CLBA1 GPR132 AHNAK2 piR-55973 lnc-CDCA4-1
GH14J104984 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 -7.2 -7243 2.8 EP300 SIN3A NRF1 POLR2G SP1 PHF8 ZFX ZIC2 POLR2A CLOCK CLBA1 HSALNG0104173 AHNAK2 GPR132 CRIP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AHNAK2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AHNAK2

Top Transcription factor binding sites by QIAGEN in the AHNAK2 gene promoter:
  • AP-2gamma
  • AP-4
  • AREB6
  • c-Myb
  • CREB
  • deltaCREB
  • GR
  • GR-alpha
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for AHNAK2 Gene

Genomic Locations for AHNAK2 Gene
chr14:104,937,244-104,978,374
(GRCh38/hg38)
Size:
41,131 bases
Orientation:
Minus strand
chr14:105,403,581-105,444,694
(GRCh37/hg19)
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; 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

Post-translational modifications for AHNAK2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AHNAK2 Gene

No data available for DME Specific Peptides for AHNAK2 Gene

Domains & Families for AHNAK2 Gene

Gene Families for AHNAK2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for AHNAK2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AHNAK2 Gene

GenScript: Design optimal peptide antigens:
  • Protein AHNAK2 (AHNK2_HUMAN)
genes like me logo Genes that share domains with AHNAK2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for AHNAK2 Gene

Function for AHNAK2 Gene

Phenotypes From GWAS Catalog 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
genes like me logo Genes that share phenotypes with AHNAK2: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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
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 AHNAK2 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 4
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for AHNAK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm NAS,IBA 17185750
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IBA,IDA --
GO:0030018 Z disc ISS 21940993
genes like me logo Genes that share ontologies with AHNAK2: view

Pathways & Interactions for AHNAK2 Gene

PathCards logo

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
GO:0043484 regulation of RNA splicing IBA 21873635
genes like me logo Genes that share ontologies with AHNAK2: view

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

CRISPR Products

Clone 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

Expression for AHNAK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for AHNAK2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AHNAK2

SOURCE GeneReport for Unigene cluster for AHNAK2 Gene:

Hs.441783

Evidence on tissue expression from TISSUES for AHNAK2 Gene

  • Adrenal gland(5)
  • Blood(5)
  • Eye(5)
  • Gall bladder(5)
  • Heart(5)
  • Intestine(5)
  • Liver(5)
  • Lung(5)
  • Pancreas(5)
  • Nervous system(4.5)
  • Skin(4.4)
  • Kidney(4.1)
genes like me logo Genes that share expression patterns with AHNAK2: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 93.72 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ahnak2 17 30
  • 71.83 (n)
dog
(Canis familiaris)
Mammalia LOC490881 30
  • 71.73 (n)
AHNAK2 31
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ahnak2 30
  • 69.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 44 (a)
OneToMany
-- 31
  • 27 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia AHNAK2 31
  • 29 (a)
OneToOne
chicken
(Gallus gallus)
Aves AHNAK2 31 30
  • 48.52 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 26 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii ahnak 31
  • 13 (a)
OneToMany
Species where no ortholog for AHNAK2 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AHNAK2: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AHNAK2 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
709612 Likely Benign: not provided 104,957,467(-) C/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
718197 Benign: not provided 104,957,491(-) C/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
718198 Benign: not provided 104,957,662(-) A/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
719526 Benign: not provided 104,954,980(-) C/T MISSENSE_VARIANT
737133 Likely Benign: not provided 104,957,629(-) C/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for AHNAK2 Gene

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

Variant ID Type Subtype PubMed ID
dgv282e201 CNV deletion 23290073
dgv283e201 CNV deletion 23290073
dgv390n67 CNV gain 20364138
dgv3973n54 CNV gain 21841781
dgv3974n54 CNV gain 21841781
esv2078334 CNV deletion 18987734
esv25274 CNV gain 19812545
esv2588764 CNV loss 19546169
esv2664692 CNV deletion 23128226
esv2749254 CNV deletion 23290073
esv2749255 CNV deletion 23290073
esv2749256 CNV deletion 23290073
esv2749257 CNV deletion 23290073
esv2749258 CNV deletion 23290073
esv2749259 CNV deletion 23290073
esv2749261 CNV deletion 23290073
esv2749265 CNV deletion 23290073
esv2749268 CNV deletion 23290073
esv2749269 CNV deletion 23290073
esv2749270 CNV deletion 23290073
esv2749271 CNV deletion 23290073
esv2749272 CNV deletion 23290073
esv3552113 CNV deletion 23714750
esv3552114 CNV deletion 23714750
esv3552115 CNV deletion 23714750
esv3635629 CNV gain 21293372
esv3635630 CNV loss 21293372
esv3635631 CNV loss 21293372
esv3635632 CNV loss 21293372
esv3635633 CNV loss 21293372
esv3635634 CNV gain 21293372
nsv1042303 CNV gain 25217958
nsv1049253 CNV gain 25217958
nsv1052190 CNV gain 25217958
nsv1054574 CNV loss 25217958
nsv1070015 CNV deletion 25765185
nsv1071178 CNV deletion 25765185
nsv1121883 CNV deletion 24896259
nsv1143619 CNV deletion 24896259
nsv1438 CNV deletion 18451855
nsv456458 CNV loss 19166990
nsv473628 CNV novel sequence insertion 20440878
nsv566099 CNV gain 21841781
nsv566139 CNV loss 21841781
nsv566141 CNV gain 21841781
nsv566144 CNV gain 21841781
nsv566150 CNV loss 21841781
nsv821194 CNV deletion 20802225
nsv952276 CNV deletion 24416366

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)

Additional Variant Information for AHNAK2 Gene

Human Gene Mutation Database (HGMD)
AHNAK2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AHNAK2

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

Disorders for AHNAK2 Gene

Additional Disease Information for 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 (The Journal of biological chemistry 2014) 3 4 54
  2. 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 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. 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 VT (Proceedings of the National Academy of Sciences of the United States of America 2004) 2 3 54
  5. The p300/YY1/miR-500a-5p/HDAC2 signalling axis regulates cell proliferation in human colorectal cancer. (PMID: 30737378) Tang W … Wang J (Nature communications 2019) 3 54

Products for AHNAK2 Gene

Sources for AHNAK2 Gene