AHNAK2 Gene
protein-coding GIFtS: 45
GCID: GC14M105594
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AHNAK nucleoprotein 2(Previous name: chromosome 14 open reading frame 78 )
(Previous symbol: C14orf78)
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Aliases
for AHNAK2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| AHNAK Nucleoprotein 21 2 | | C14orf781 2 3 | | Chromosome 14 Open Reading Frame 781 | | Protein AHNAK22 | | KIAA20193 |
Export aliases for AHNAK2 gene to outside databasesPrevious GC identifers: GC14M104476 GC14M105556 GC14M105561 GC14M085597 GC14M105564 GC14M105569 GC14M105574 GC14M105580 |
Summaries
for AHNAK2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for AHNAK2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000014.8 NC_018925.1 NT_026437.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the AHNAK2 gene promoter:
GR AP-4 AP-2gamma AREB6 CREB PPAR-gamma1 deltaCREB c-Myb GR-alpha PPAR-gamma2
Other transcription factors
Search SABiosciences Chromatin IP Primers for AHNAK2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AHNAK2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 14q32.33 Ensembl cytogenetic band: 14q32.33 HGNC cytogenetic band: 14q32.33AHNAK2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 14 GeneLoc Exon Structure GeneLoc location for GC14M105594: view genomic region
(about GC identifiers)
Start:
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105,403,581 bp from pter |
End:
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105,444,694 bp from pter |
Size:
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41,114 bases |
Orientation:
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minus strand |
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Proteins
for AHNAK2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: AHNK2_HUMAN, Q8IVF2 (See
protein sequence)Recommended Name: Protein AHNAK2 Size: 5795 amino acids; 616629 Da
Subunit: Interacts with DYSF; the interaction is direct and Ca(2+)-independent
Subcellular location: Nucleus (By similarity)
Sequence caution: Sequence=AAH49216.1; Type=Erroneous initiation; Sequence=AAH90889.1; Type=Erroneous initiation;Sequence=BAC23115.1; Type=Frameshift; Positions=3008;
Secondary accessions: Q5BKX7 Q7Z343 Q7Z358 Q7Z394 Q7Z3G0 Q86WQ6 Q8IYY1 Q8N3G4 Q96EX9Alternative splicing: 3 isoforms: Q8IVF2-1 Q8IVF2-2 Q8IVF2-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for AHNAK2: NX_Q8IVF2
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8IVF2
AHNAK2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_612429.2
ENSEMBL proteins: ENSP00000450998 ENSP00000353114
Human Recombinant Protein Products for AHNAK2:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
IEA | -- |
AHNAK2 for ontologies About GeneDecksing
AHNAK2 Antibody Products:
Assay Products for AHNAK2: |
Protein
Domains /
Families
for AHNAK2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
AHNAK2 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q8IVF2ProtoNet protein and cluster: Q8IVF2 UniProtKB/Swiss-Prot: AHNK2_HUMAN, Q8IVF2Similarity: Contains 1 PDZ (DHR) domain |
Function
for AHNAK2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
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Phenotypes:
3 GenomeRNAi human phenotypes for AHNAK2:
Animal Models:
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AHNAK2 |
|
Pathways & Interactions
for AHNAK2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
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Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AHNAK2
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
2 Interacting proteins for AHNAK2 (Q8IVF23 ENSP000003531144) via UniProtKB, MINT, STRING, and/or I2DAbout this table
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Drugs & Compounds
for AHNAK2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for AHNAK2
Search CenterWatch for drugs/clinical trials and news about AHNAK2 / AHNK2 
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Transcripts
for AHNAK2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
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REFSEQ mRNAs for AHNAK2 gene: NM_138420.2 Unigene Cluster for AHNAK2: AHNAK nucleoprotein 2 Hs.441783 [show with all ESTs]Unigene Representative Sequence: NM_1384204 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000555122(uc001ypx.2) ENST00000557457(uc021seo.1) ENST00000333244(uc010axc.1)
ENST00000555544
Additional cDNA sequence: AB095939.1 AK094143.1 AK095704.1 AK126472.1 AL834367.1 BC004283.1 BC011859.2 BC033372.1 BC049216.1 BC090889.1 BC144467.1 BX537923.1 BX538040.1 BX538106.1 BX538133.1 8 DOTS entries: DT.115132 DT.86848424 DT.95126803 DT.86858815 DT.100777813 DT.75120294 DT.99953011 DT.91676479 12 AceView cDNA sequences: AK095704 AB095939 AL834367 BX538133 BC011859 BC033372 BX538040 BX538106 AK126472 BC049216 BX537923 Z36842
GeneLoc Exon Structure
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Expression
for AHNAK2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| AHNAK2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCCACTGGCC
About this image
See AHNAK2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AHNAK2
SOURCE GeneReport for Unigene cluster: Hs.441783
SABiosciences Custom PCR Arrays for AHNAK2
Primer
Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AHNAK2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AHNAK2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AHNAK2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AHNAK2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AHNAK2 |
Orthologs
for AHNAK2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
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This gene was present in the common ancestor of chordates.
Orthologs for AHNAK2 gene from 3/13 species (see all 13) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
lizard
(Anolis carolinensis) |
Reptilia |
AHNAK26 |
-- |
24(a) |
1 ↔ 1 |
1(4090177-4111281) |
tropical clawed frog
(Xenopus tropicalis) |
Amphibia |
1420283342 |
-- |
71.48(n) |
|
142028334 |
zebrafish
(Danio rerio) |
Actinopterygii |
BC054716.12 |
-- |
73.89(n) |
|
BC054716.1 |
ENSEMBL Gene Tree for AHNAK2 (if available)
TreeFam Gene Tree for AHNAK2 (if available) |
Paralogs
for AHNAK2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for AHNAK2 gene
- PRX2 AHNAK2
AHNAK2 for paralogs About GeneDecksing
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Genomic Variants
for AHNAK2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 14 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for AHNAK2 (105403581 - 105444694 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for AHNAK2
4 CNVs: 102032 71989 71991 71990
1 Indel: 45235
Human Gene Mutation Database (HGMD): AHNAK2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AHNAK2 |
|
Disorders
/ Diseases
for AHNAK2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
AHNAK2 for disorders About GeneDecksing
OMIM gene information: 608570
OMIM disorders: --
1  disease for AHNAK2: About MalaCardsskeletal muscle regeneration
Export disorders for AHNAK2 gene to outside databases
|
Publications
for AHNAK2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for AHNAK2 gene, integrated from 9 sources (see all 17):
(articles sorted by number of sources associating them with AHNAK2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The AHNAKs are a class of giant propeller-like proteins that associate with calcium channel proteins of cardiomyocytes and other cells. (PubMed id 15007166)1, 3 Komuro A....Marchesi V.T. (2004)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
- Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)
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External Searches for AHNAK2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing AHNAK2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
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Other Databases showing AHNAK2 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing AHNAK2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for AHNAK2 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for AHNAK2 gene:
Search GeneIP for patents involving AHNAK2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for AHNAK2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
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|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AHNAK2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AHNAK2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AHNAK2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AHNAK2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AHNAK2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AHNAK2 |
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 |  |  |  | |
| | | | Search Tocris compounds for AHNAK2 |
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 | | | AHNAK2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AHNAK2 |
|  |  |  |  | | | | Search ThermoFisher Antibodies for AHNAK2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AHNAK2 |
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