Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

AHNAK Gene

protein-coding GIFtS: 51
GCID: GC11M062202

AHNAK nucleoprotein

(Previous name: AHNAK nucleoprotein (desmoyokin) )

Explore 12 diseases affiliated with
AHNAK via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
AHNAK Nucleoprotein¹ ²		Desmoyokin³
MGC5395¹		Neuroblast Differentiation-Associated Protein AHNAK²
AHNAK Nucleoprotein (Desmoyokin)¹		Desmoyokin³
AHNAK-Related¹		PM227³
AHNAKRS²

External Ids:	HGNC: 347¹	Entrez Gene: 79026²	Ensembl: ENSG00000124942⁷	OMIM: 103390⁵	UniProtKB: Q09666³

Export aliases for AHNAK gene to outside databases

Previous GC identifers: GC11U990003 GC11M063859 GC11M062535 GC11M062059 GC11M062040 GC11M058529

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: AHNK_HUMAN, Q09666

Function: May be required for neuronal cell differentiation

Gene Wiki entry for AHNAK

(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_000011.9 NC_018922.1 NT_167190.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the AHNAK gene promoter:
Bach1 Elk-1 Spz1 Pax-5 HTF FOXD3 RelA LUN-1 Egr-2 Hlf
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for AHNAK

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AHNAK

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q12.2 Ensembl cytogenetic band: 11q12.3 HGNC cytogenetic band: 11q12-q13

AHNAK Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AHNAK gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M062202: view genomic region (about GC identifiers)

Start:	62,201,016 bp from pter	End:	62,323,719 bp from pter
Size:	122,704 bases	Orientation:	minus strand

(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: AHNK_HUMAN, Q09666 (See protein sequence)

Recommended Name: Neuroblast differentiation-associated protein AHNAK

Size: 5890 amino acids; 629101 Da

Subunit: Interacts with DYSF; the interaction is direct and Ca(2+)-independent

Subcellular location: Nucleus

Sequence caution: Sequence=AAA69899.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

2 PDB 3D structures from and Proteopedia for AHNAK:

4DRW (3D)

4FTG (3D)

Secondary accessions: A1A586

Alternative splicing: 2 isoforms: Q09666-1 Q09666-2

Explore the universe of human proteins at neXtProt for AHNAK: NX_Q09666

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q09666

AHNAK Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001611.1 NP_076965.2

ENSEMBL proteins:

ENSP00000433789 ENSP00000257247 ENSP00000433635 ENSP00000367263 ENSP00000435059

ENSP00000433286 ENSP00000435357 ENSP00000436845

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: AHNAK OriGene Protein Over-expression Lysate: AHNAK OriGene Custom Protein Services for AHNAK
	GenScript Custom Purified and Recombinant Proteins Services for AHNAK
	Novus Biologicals AHNAK Proteins Novus Biologicals AHNAK Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for AHNAK

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	NAS	1608957

AHNAK for ontologies About GeneDecksing

AHNAK Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for AHNAK
	GenScript Custom Superior Antibodies Services for AHNAK
	Novus Biologicals AHNAK Antibodies
	Search for Antibodies for AHNAK at Abcam
	Uscn Antibodies for AHNAK
	ThermoFisher Antibody for AHNAK

Assay Products for AHNAK:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for AHNAK
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for AHNAK

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

AHNAK for domains About GeneDecksing

1 InterPro domain/family:

IPR001478 PDZ

Graphical View of Domain Structure for InterPro Entry Q09666

ProtoNet protein and cluster: Q09666

UniProtKB/Swiss-Prot: AHNK_HUMAN, Q09666

Similarity: Contains 1 PDZ (DHR) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: AHNK_HUMAN, Q09666

Function: May be required for neuronal cell differentiation

Genatlas biochemistry entry for AHNAK:

unusually large protein (700kDa),expressed in several cell lineages,repressed in neuroblastoma,with homology with

desmosomal plaque protein (desmoyokin) in bovine

miRNA Products:		OriGene 3'-UTR Clone: AHNAK Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AHNAK
		8/58 QIAGEN miScript miRNA Assays for microRNAs that regulate AHNAK (see all 58):
		hsa-miR-100* hsa-miR-302d hsa-miR-520e hsa-miR-429 hsa-miR-106a hsa-let-7a-2* hsa-miR-30d hsa-miR-372

		SwitchGear 3'UTR luciferase reporter plasmid: AHNAK 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AHNAK (see all 4) OriGene shRNA RFP: AHNAK OriGene siRNA: AHNAK
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AHNAK

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for AHNAK

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AHNAK (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AHNAK (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): AHNAK (NM_001620)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for AHNAK
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AHNAK

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for AHNAK
		Search LifeMap BioReagents cell lines for AHNAK

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AHNAK

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003676	nucleic acid binding	--	--
GO:0005515	protein binding	IPI	16417406

AHNAK for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for AHNAK: Ahnak^tm1Tak Ahnak^tm1Vtm Ahnak^tm1Ysb
     7 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Ahnak):

adipose tissue	cellular	growth/size	hematopoietic system	homeostasis/metabolism
immune system	normal

AHNAK for phenotypes About GeneDecksing

(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

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for AHNAK

STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

5/758 Interacting proteins for AHNAK (Q09666^{2, 3} ENSP00000367263⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 758)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SUMO1	P63165²^,³, ENSP00000376076⁴	MINT-7947479 I2D: score=1 STRING: ENSP00000376076
CDC5L	Q99459², ENSP00000360532⁴	MINT-7945693 MINT-7947479 STRING: ENSP00000360532
YWHAZ	P63104²^,³, ENSP00000309503⁴	MINT-3318854 I2D: score=1 STRING: ENSP00000309503
SNW1	Q13573², ENSP00000261531⁴	MINT-7945693 MINT-7947479 STRING: ENSP00000261531
ESR1	P03372³, ENSP00000206249⁴	I2D: score=1 STRING: ENSP00000206249

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007399	nervous system development	NAS	--

AHNAK for ontologies About GeneDecksing

(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

AHNAK for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for AHNAK
1 Novoseek chemical compound relationship for AHNAK gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
calcium	27.6	9	11312263 (2), 10593863 (2), 19497879 (1), 19261907 (1) (see all 6)

Search CenterWatch for drugs/clinical trials and news about AHNAK / AHNK

(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, 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

REFSEQ mRNAs for AHNAK gene (2 alternative transcripts):

NM_001620.2 NM_024060.3

Unigene Cluster for AHNAK:

AHNAK nucleoprotein

Hs.502756 [show with all ESTs]

Unigene Representative Sequence: NM_001620

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000530124 ENST00000257247(uc001ntk.1) ENST00000525875 ENST00000533365

ENST00000378024(uc001ntl.3) ENST00000533743 ENST00000530285 ENST00000528508

ENST00000531324

miRNA Products:		OriGene 3'-UTR Clone: AHNAK Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AHNAK
		8/58 QIAGEN miScript miRNA Assays for microRNAs that regulate AHNAK (see all 58):
		hsa-miR-100* hsa-miR-302d hsa-miR-520e hsa-miR-429 hsa-miR-106a hsa-let-7a-2* hsa-miR-30d hsa-miR-372

		SwitchGear 3'UTR luciferase reporter plasmid: AHNAK 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AHNAK (see all 4) OriGene shRNA RFP: AHNAK OriGene siRNA: AHNAK
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AHNAK

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AHNAK (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AHNAK (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): AHNAK (NM_001620)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for AHNAK
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AHNAK

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AHNAK Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat AHNAK
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AHNAK
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AHNAK

Additional cDNA sequence:

AK091153.1 AK095346.1 AK128868.1 AK300376.1 BC000926.1 BC012477.1 BC017483.1 BC128460.1

M80899.1 M80902.1 X74818.1

22 DOTS entries:

DT.306230 DT.40196571 DT.205363 DT.91943879 DT.92444250 DT.95234275 DT.102843018 DT.120721656

DT.120721676 DT.121632014 DT.95083474 DT.95161779 DT.120721666 DT.120721669 DT.120721732 DT.120721753

DT.75155677 DT.91641032 DT.92444243 DT.95234278 DT.91980643 DT.95180013

24/41 AceView cDNA sequences (see all 41):

AK091153 AA834085 AX746812 NM_024060 BV187685 BC000926 M80902 AI791300

BF761997 BC012477 BG187385 AK095346 BF094607 BE694319 AI791268 AA516529

BF940334 BF091430 BE087659 BF380810 BE004719 BF512391 BF380833 BE003155

GeneLoc Exon Structure

(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

AHNAK expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATTAAGAAAA

About this image

AHNAK expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Extraembryonic Mesoderm

Extraembryonic Blood Islands

Primitive Erythrocytes

Blood

Kidney

Renal Collecting Duct System

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Mesendoderm-like cells (Generation of mesend...)

See AHNAK Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AHNAK

SOURCE GeneReport for Unigene cluster: Hs.502756

SABiosciences Expression via Pathway-Focused PCR Array including AHNAK:

Epithelial to Mesenchymal Transition (EMT) in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AHNAK Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat AHNAK
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AHNAK
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AHNAK

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AHNAK

(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

This gene was present in the common ancestor of chordates.

Orthologs for AHNAK gene from 3/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	-- -- (see all 3)	--	50(a) 47(a) (see all 3)	1 ↔ many 1 ↔ many (see all 3)	Un(63597835-63601464) Un(60113201-60119566)
lizard (Anolis carolinensis)	Reptilia	AHNAK⁶	--	61(a)	1 ↔ 1	GL344077.1(85909-105402)
zebrafish (Danio rerio)	Actinopterygii	ahnak¹	AHNAK nucleoprotein	59.41(n) 50.87(a)		559276 XM_682604.3 XP_687696.3

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for AHNAK gene

PRX² AHNAK2²

AHNAK for paralogs About GeneDecksing

(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

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs200959599^1,2	C,	other	62293490(+)	`CTTTCA/GGTCCT`	3	P L	mis¹ int¹		0	--	--	--	--
rs138823743^1,2		--	62200529(+)	`AGCCTA/GGCCAA`	1	--	ds500¹		0	--	--	--	--
rs113975175^1,2	C,	--	62200603(+)	`GCGTGA/GTGGCA`	1	--	ds500¹		0	--	--	--	--
rs7944436^1,2	C,F,A,	--	62200661(+)	`CTCAGG/CAGGTG`	1	--	ds500¹		6		NA WA EA	248
rs11307787^1,2	C,F	--	62200736(+)	`GTCTCA/-AAAAA`	1	--	ds500¹		3		NA CSA	6
rs12794920^1,2	C,F,A,	--	62200809(+)	`AAGGGG/ATGTAA`	1	--	ds500¹		7		NA WA CSA	248
rs11231090^1,2	H	--	62200815(+)	`TGTAAG/AAGGGA`	1	--	ds500¹		4		NS EA	420
rs3017106^1,2	C,F,O,A,H,	--	62200846(-)	`CGCGCA/GTTCTC`	1	--	ds500¹		27		NA NS EA WA CSA	2484
rs184402005^1,2		--	62200860(+)	`GTTCTC/TGGTCA`	1	--	ds500¹		0	--	--	--	--
rs143701753^1,2		--	62200933(+)	`AAGCTG/TCTGCC`	1	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for AHNAK (62201016 - 62323719 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for AHNAK
2 CNVs: 4749 85816

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AHNAK

DNA2.0 Custom Variant and Variant Library Synthesis for AHNAK

(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

AHNAK for disorders           About GeneDecksing

OMIM gene information: 103390    OMIM disorders: --

12 diseases for AHNAK:    About MalaCards

limb-girdle muscular dystrophy skeletal muscle regeneration systemic lupus erythematosus lupus erythematosus

muscular dystrophy intrahepatic cholangiocarcinoma hepatitis c cholangiocarcinoma

hepatitis hypoxia neuroblastoma neuronitis

1 disease from the University of Copenhagen DISEASES database for AHNAK:

limb-girdle muscular dystrophy

Export disorders for AHNAK gene to outside databases

(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 AHNAK gene, integrated from 9 sources (see all 77):
(articles sorted by number of sources associating them with AHNAK)

Utopia: connect your pdf to the dynamic
world of online information

A human gene (AHNAK) encoding an unusually large protein with a 1.2- microns polyionic rod structure. (PubMed id 1608957)^{1, 2, 9} Shtivelman E.... Bishop J.M. (1992)
The carboxyl-terminal region of ahnak provides a link between cardiac L-type Ca2+ channels and the actin-based cytoskeleton. (PubMed id 12153988)^{1, 3} Hohaus A....Haase H. (2002)
A radiation hybrid map of 506 STS markers spanning human chromosome 11. (PubMed id 7987395)^{1, 3} James M.R....Vignal A. (1994)
Protein kinase B phosphorylates AHNAK and regulates its subcellular localization. (PubMed id 11535620)^{1, 9} Sussman J....Shtivelman E. (2001)
Multiple antibodies to titin immunoreact with AHNAK and localize to the mitotic spindle machinery. (PubMed id 11746675)^{1, 9} Wernyj R.P....Isaacs W.B. (2001)
AHNAK interacts with the DNA ligase IV-XRCC4 complex and stimulates DNA ligase IV-mediated double-stranded ligation. (PubMed id 15177040)^{1, 9} Stiff T....Kysela B. (2004)
The giant protein AHNAK is a specific target for the calcium- and zinc-binding S100B protein: potential implications for Ca2+ homeostasis regulation by S100B. (PubMed id 11312263)^{1, 9} Gentil B.J....Baudier J. (2001)
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. (PubMed id 18334579)^{1, 9} Huang Y....van der Maarel S.M. (2008)
AHNAK-mediated activation of phospholipase C-gamma1 through protein kinase C. (PubMed id 15033986)^{1, 9} Lee I.H....Bae Y.S. (2004)
Localization of the human AHNAK/desmoyokin gene (AHNAK) to chromosome band 11q12 by somatic cell hybrid analysis and fluorescence in situ hybridization. (PubMed id 7789175)^{1, 9} Kudoh J....Shimizu N. (1995)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 79026	HGNC: 347	AceView: MGC5395	Ensembl:ENSG00000124942	euGenes: HUgn79026
ECgene: AHNAK	H-InvDB: AHNAK

(According to HUGE)
About This Section

(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 AHNAK	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for AHNAK	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for AHNAK gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for AHNAK gene:
Search GeneIP for patents involving AHNAK

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, 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
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		OriGene shRNA RFP for AHNAK
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AHNAK		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AHNAK
	OriGene Protein Over-expression Lysate for AHNAK		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for AHNAK		OriGene 3'-UTR Clone for AHNAK
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AHNAK		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AHNAK
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	OriGene Purified Protein for AHNAK		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for AHNAK		OriGene Custom Protein Services for AHNAK
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AHNAK
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AHNAK
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AHNAK
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AHNAK
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AHNAK
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AHNAK

	GenScript Custom Purified and Recombinant Proteins Services for AHNAK		GenScript cDNA clones with any tag delivered in your preferred vector for AHNAK
	GenScript Custom Assay Services for AHNAK		GenScript Custom Superior Antibodies Services for AHNAK
	GenScript Custom overexpressing Cell Line Services for AHNAK		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in AHNAK promoter
	Search Chromatin IP Primers for AHNAK
	RT² qPCR Primer Assay in human, mouse, rat AHNAK
	GNC Network for AHNAK
	SABiosciences PCR Arrays including human, mouse, rat AHNAK

Search Tocris compounds for AHNAK

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	AHNAK antibodies
	AHNAK proteins
	AHNAK lysates

	Search for Antibodies for AHNAK at Abcam
	See all of Abcam's Antibodies, Kits and Proteins for AHNAK
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

AHNAK Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for AHNAK

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AHNAK

	SwitchGear 3'UTR luciferase reporter plasmids for AHNAK
	Browse SwitchGear Promoter luciferase reporter plasmids for AHNAK

ThermoFisher Antibody for AHNAK

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AHNAK

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes AHNAK gene at Home site.

hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4

Advanced Search

Export list of displayed genes

AHNAK Gene

AHNAK nucleoprotein

Aliases
for AHNAK gene

Summaries
for AHNAK gene

Genomic Views
for AHNAK gene

Proteins
for AHNAK gene

Protein Domains /
Families
for AHNAK gene

Function
for AHNAK gene

Pathways & Interactions
for AHNAK gene

Drugs & Compounds
for AHNAK gene

Transcripts
for AHNAK gene

Expression
for AHNAK gene

Orthologs
for AHNAK gene

Paralogs
for AHNAK gene

Genomic Variants
for AHNAK gene

Disorders / Diseases
for AHNAK gene

Publications
for AHNAK gene

External Searches for AHNAK gene

Genome Databases showing AHNAK gene

Other Databases showing AHNAK gene

Specialized Databases showing AHNAK gene

Intellectual Property
for AHNAK gene

Products
for AHNAK gene

View Random Gene

Advanced Search

Export list of displayed genes

AHNAK Gene

AHNAK nucleoprotein

Aliasesfor AHNAK gene

Summariesfor AHNAK gene

Genomic Viewsfor AHNAK gene

Proteinsfor AHNAK gene

Protein Domains /Familiesfor AHNAK gene

Functionfor AHNAK gene

Pathways & Interactionsfor AHNAK gene

Drugs & Compoundsfor AHNAK gene

Transcriptsfor AHNAK gene

Expression for AHNAK gene

Orthologsfor AHNAK gene

Paralogsfor AHNAK gene

Genomic Variantsfor AHNAK gene

Disorders / Diseasesfor AHNAK gene

Publicationsfor AHNAK gene

External Searches for AHNAK gene

Genome Databases showing AHNAK gene

Other Databases showing AHNAK gene

Specialized Databases showing AHNAK gene

Intellectual Propertyfor AHNAK gene

Productsfor AHNAK gene

View Random Gene

Aliases
for AHNAK gene

Summaries
for AHNAK gene

Genomic Views
for AHNAK gene

Proteins
for AHNAK gene

Protein Domains /
Families
for AHNAK gene

Function
for AHNAK gene

Pathways & Interactions
for AHNAK gene

Drugs & Compounds
for AHNAK gene

Transcripts
for AHNAK gene

Expression
for AHNAK gene

Orthologs
for AHNAK gene

Paralogs
for AHNAK gene

Genomic Variants
for AHNAK gene

Disorders / Diseases
for AHNAK gene

Publications
for AHNAK gene

Intellectual Property
for AHNAK gene

Products
for AHNAK gene