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Set Analyses:

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AKAP8L Gene

protein-coding GIFtS: 58
GCID: GC19M015490

A Kinase (PRKA) Anchor Protein 8-Like

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
A Kinase (PRKA) Anchor Protein 8-Like¹ ²		NAKAP² ³
Neighbor Of A Kinase Anchoring Protein 95¹ ²		NAKAP95² ³
Homologous To AKAP95 Protein² ³		AKAP8-Like Protein² ³
Neighbor Of A-Kinase-Anchoring Protein 95² ³		A-Kinase Anchor Protein 8-Like²
Neighbor Of AKAP95² ³		Helicase A-Binding Protein 95 KDa²
HA95² ³		Neighbor Of A-Kinase Anchoring Protein 95²
HAP95² ³		Helicase A-Binding Protein 95³

External Ids:	HGNC: 29857¹	Entrez Gene: 26993²	Ensembl: ENSG00000011243⁷	OMIM: 609475⁵	UniProtKB: Q9ULX6³

Export aliases for AKAP8L gene to outside databases

Previous GC identifers: GC19M015352 GC19M015353 GC19M015058

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for AKAP8L Gene:

AKAP8L (A kinase (PRKA) anchor protein 8-like) is a protein-coding gene. Diseases associated with AKAP8L include huntington's disease, and tonsillitis. GO annotations related to this gene include DEAD/H-box RNA helicase binding. An important paralog of this gene is AKAP8.

UniProtKB/Swiss-Prot: AKP8L_HUMAN, Q9ULX6

Function: Could play a role in constitutive transport element (CTE)-mediated gene expression. Does not seem to be

implicated in the binding of regulatory subunit II of PKA. May be involved in nuclear envelope breakdown and

chromatin condensation. May regulate the initiation phase of DNA replication when associated with TMPO-beta

Gene Wiki entry for AKAP8L 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000019.10 NT_011295.12 NC_018930.2

Regulatory elements:

Regulatory transcription factor binding sites in the AKAP8L gene promoter:
GCNF Pax-2 Pax-2a Egr-2 AREB6 PPAR-gamma1 GCNF-1 c-Myb PPAR-gamma2 Zic3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AKAP8L promoter sequence

Search Chromatin IP Primers for AKAP8L

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AKAP8L

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

Entrez Gene cytogenetic band: 19p13.12 Ensembl cytogenetic band: 19p13.12 HGNC cytogenetic band: 19p13.12

AKAP8L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKAP8L gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M015490: view genomic region (about GC identifiers)

Start:	15,490,859 bp from pter	End:	15,529,952 bp from pter
Size:	39,094 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AKP8L_HUMAN, Q9ULX6 (See protein sequence)

Recommended Name: A-kinase anchor protein 8-like

Size: 646 amino acids; 71649 Da

Subunit: Interacts with PRPF40A (By similarity). Binds to the C-terminal of RNA helicase A and to TMPO-beta.

Interacts with RNF43

Sequence caution: Sequence=AAF86048.1; Type=Frameshift; Positions=553; Sequence=BAA34791.1; Type=Erroneous

initiation; Note=Translation N-terminally shortened;

Secondary accessions: B4DJ74 B5BU90 O94792 Q96J58 Q9NRQ0 Q9UGM0

Alternative splicing: 2 isoforms: Q9ULX6-1 Q9ULX6-2

Explore the universe of human proteins at neXtProt for AKAP8L: NX_Q9ULX6

Explore proteomics data for AKAP8L at MOPED

Post-translational modifications:

Phosphorylated on serine or threonine residues possibly by PKA¹

Ubiquitination² at Lys257, Lys264, Lys533

Modification sites at PhosphoSitePlus

See AKAP8L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_055186.2

ENSEMBL proteins:

ENSP00000380557 ENSP00000477434 ENSP00000470952 ENSP00000470906 ENSP00000471958

ENSP00000470067 ENSP00000472188 ENSP00000470912

AKAP8L Human Recombinant Protein Products:

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	Novus Biologicals AKAP8L Lysate
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AKAP8L Antibody Products:

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AKAP8L Assay Products:

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	Cloud-Clone Corp. ELISAs for AKAP8L Cloud-Clone Corp. CLIAs for AKAP8L

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:

IPR007071 AKAP95

IPR015880 Znf_C2H2-like

Graphical View of Domain Structure for InterPro Entry Q9ULX6

ProtoNet protein and cluster: Q9ULX6

1 Blocks protein domain: IPB007071 A-kinase anchoring protein 95 (AKAP95)

UniProtKB/Swiss-Prot: AKP8L_HUMAN, Q9ULX6

Similarity: Belongs to the AKAP95 family

Similarity: Contains 2 C2H2 AKAP95-type zinc fingers

AKAP8L for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: AKP8L_HUMAN, Q9ULX6

Function: Could play a role in constitutive transport element (CTE)-mediated gene expression. Does not seem to be

implicated in the binding of regulatory subunit II of PKA. May be involved in nuclear envelope breakdown and

chromatin condensation. May regulate the initiation phase of DNA replication when associated with TMPO-beta

Gene Ontology (GO): 5 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0005515	protein binding	IPI	18313049
GO:0017151	DEAD/H-box RNA helicase binding	TAS	10748171
GO:0044822	poly(A) RNA binding	IDA	--
GO:0046872	metal ion binding	IEA	--

AKAP8L for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for AKAP8L:

Decreased Wnt reporter activit

Decreased viability

Increased apoptosis

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AKAP8L

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AKAP8L

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AKAP8L

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AKAP8L

miRNA Products:		miRTarBase miRNAs that target AKAP8L: hsa-mir-378a-5p (MIRT043966), hsa-mir-615-3p (MIRT040300), hsa-mir-31-5p (MIRT049869)

		Block miRNA regulation of human, mouse, rat AKAP8L using miScript Target Protectors
		Search for qRT-PCR Assays for microRNAs that regulate AKAP8L
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for AKAP8L
		Predesigned siRNA for gene silencing in human, mouse, rat AKAP8L

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for AKAP8L

Clone Products:		OriGene clones in human, mouse for AKAP8L (see all 8) OriGene ORF clones in mouse, rat for AKAP8L OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: AKAP8L (NM_014371)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for AKAP8L
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for AKAP8L
		Browse ESI BIO Cell Lines and PureStem Progenitors for AKAP8L

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKAP8L

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

AKP8L_HUMAN, Q9ULX6: Nucleus matrix. Cytoplasm. Note=Colocalizes with PRPF40A in the nuclear matrix (By

similarity). Nuclear at steady state but shuttles between the nucleus and cytoplasm. Associated with the nuclear

matrix

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5
cytosol	3

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Gene Ontology (GO): 4 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	TAS	10761695
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0016363	nuclear matrix	IDA	16391387

AKAP8L for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for AKAP8L About

See pathways by source

SuperPath

Contained pathways About

Epstein-Barr virus infection

Epstein-Barr virus infection

Pathways by source See SuperPaths
Show all pathways

1 Kegg Pathway (Kegg details for AKAP8L):

Epstein-Barr virus infection

AKAP8L for pathways About GeneDecksing

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for AKAP8L
Interactions:

GeneGlobe Interaction Network for AKAP8L

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

Selected Interacting proteins for AKAP8L (Q9ULX6^{1, 2, 3} ENSP00000380557⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RELA	Q04206²^,³	MINT-48011 MINT-48966 I2D: score=1
MAP3K3	Q99759²^,³	MINT-48514 I2D: score=2
RNF43	Q68DV7¹^,³, ENSP00000385328⁴	EBI-357530,EBI-1647060 I2D: score=2 STRING: ENSP00000385328
MYC	P01106³, ENSP00000367207⁴	I2D: score=3 STRING: ENSP00000367207
MAGED1	Q9Y5V3³, ENSP00000364847⁴	I2D: score=2 STRING: ENSP00000364847

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Gene Ontology (GO): 1 biological process term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008150	biological_process	ND	--

AKAP8L for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for AKAP8L (AKP8L)

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for AKAP8L gene:

NM_014371.2

Unigene Cluster for AKAP8L:

A kinase (PRKA) anchor protein 8-like

Hs.399800 [show with all ESTs]

Unigene Representative Sequence: NM_014371

Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):

ENST00000397410(uc002naw.1 uc002nax.1 uc010xoh.1 uc002nay.1 uc002naz.3)

ENST00000609519 ENST00000595465 ENST00000594594 ENST00000593845 ENST00000600065

ENST00000595087 ENST00000595879 ENST00000596750 ENST00000594893 ENST00000598292

ENST00000595136 ENST00000599137 ENST00000599488 ENST00000596213 ENST00000597994

ENST00000596195 ENST00000600247

miRNA Products:		Block miRNA regulation of human, mouse, rat AKAP8L using miScript Target Protectors
		Search for qRT-PCR Assays for microRNAs that regulate AKAP8L
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for AKAP8L
		Predesigned siRNA for gene silencing in human, mouse, rat AKAP8L

Clone Products:		OriGene clones in human, mouse for AKAP8L (see all 8) OriGene ORF clones in mouse, rat for AKAP8L OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: AKAP8L (NM_014371)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for AKAP8L
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AKAP8L

Primer Products:		OriGene qPCR primer pairs and template standards for AKAP8L OriGene qSTAR qPCR primer pairs in human, mouse for AKAP8L
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat AKAP8L
		QuantiTect SYBR Green Assays in human, mouse, rat AKAP8L
		QuantiFast Probe-based Assays in human, mouse, rat AKAP8L

Additional mRNA sequence:

AB015332.1 AB025905.1 AB451326.1 AB451469.1 AF199414.1 AJ243467.1 AK094736.1 AK225046.1

AK225291.1 AK295956.1 AK310990.1 AL133576.1 BC000713.2 BC111792.1 BC131550.1

Selected DOTS entries (see all 28):

DT.97855002 DT.100671816 DT.95083638 DT.445973 DT.100814161 DT.86847148 DT.121496880 DT.445974

DT.95355366 DT.100814160 DT.100814154 DT.100814145 DT.100030475 DT.121496912 DT.100030474 DT.304905

DT.40129033 DT.121496925 DT.100814155 DT.91654626 DT.95355361 DT.100814156 DT.100814159 DT.121496748

Selected AceView cDNA sequences (see all 447):

AW025921 CA442269 AI571285 BC048293 AU279721 BM823829 BC000713 BQ000806

AL120999 BM453034 BU552799 BQ684563 AI828531 BF439312 AW606676 CA950759

BQ773178 BC037270 AI241075 AI304751 AJ243467 AI479138 AI204693 AI677943

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for AKAP8L (see all 13) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	·	2d	·	2e	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8a	·	8b	·	8c	·	8d	·	8e	·	8f	·	8g	·	8h	^	9a	·	9b	^	10	^	11a	·	11b	^	12	^
SP1:																			-																														-
SP2:													-						-																														-
SP3:													-						-																														-
SP4:													-						-
SP5:													-						-

ExUns:	13	^	14a	·	14b	^	15	^	16	^	17	^	18
SP1:			-
SP2:			-
SP3:	-		-
SP4:
SP5:

ECgene alternative splicing isoforms for AKAP8L

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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AKAP8L expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GTGGCCCGCA

About this image

AKAP8L expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 9) fully expand


Brain (Nervous System) fully expand to see all 4 entries
Cerebral Cortex

Ovary (Reproductive System) fully expand to see all 2 entries
Ovarian Mesenchymal Stroma Cells Ovary Interstitium
Oviduct

Testis (Reproductive System)
Leydig Cells Testis Interstitium

Bone (Muscoskeletal System)
Bone Marrow

Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast

AKAP8L Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

AKAP8L Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.399800

UniProtKB/Swiss-Prot: AKP8L_HUMAN, Q9ULX6

Tissue specificity: Expressed in the brain cortex (at protein level)

Custom PCR Arrays for AKAP8L

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		Pre-validated RT² qPCR Primer Assay in human, mouse, rat AKAP8L
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		QuantiFast Probe-based Assays in human, mouse, rat AKAP8L

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKAP8L

(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)
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This gene was present in the common ancestor of chordates.

Orthologs for AKAP8L gene from Selected species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Akap8l^{1 , 5}	A kinase (PRKA) anchor protein 8-like^{1, 5}	87.9(n)¹ 90.92(a)¹		17 (17.50 cM)⁵ 54194¹ NM_017476.2¹ NP_059504.2¹ 32321424⁵
chicken (Gallus gallus)	Aves	AKAP8L¹	A kinase (PRKA) anchor protein 8-like	69.45(n) 69.98(a)		776856 NM_001199537.1 NP_001186466.1
lizard (Anolis carolinensis)	Reptilia	AKAP8L⁶	A kinase (PRKA) anchor protein 8-like	48(a)	1 ↔ 1	2(103451547-103490066)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.10140²	Transcribed sequence with weak similarity to protein more	75.17(n)		BX691185.1
zebrafish (Danio rerio)	Actinopterygii	wufc52f04²	wufc52f04	78.03(n)		325046 BM156308.1

ENSEMBL Gene Tree for AKAP8L (if available)
TreeFam Gene Tree for AKAP8L (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for AKAP8L gene

AKAP8² ZNF326²

1 SIMAP similar gene for AKAP8L using alignment to 8 protein entries: AKP8L_HUMAN (see all proteins):

DKFZp434L0650

AKAP8L for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs2366267^1,2	C,F,A,H	--	15492848(-)	`ACCCAG/ACAGTG`	1	--	int¹		26		NS EA NA WA	2498
rs187404136^1,2		--	15492865(+)	`GCTGTC/GGATAA`	1	--	int¹		0	--	--	--	--
rs137960437^1,2		--	15492902(+)	`TCCCAC/TGGCAT`	1	--	int¹		0	--	--	--	--
rs192700176^1,2		--	15492903(+)	`CCCACA/GGCATT`	1	--	int¹		0	--	--	--	--
rs147373709^1,2	C	--	15493036(+)	`TTTTT-/TAAAGAC`	1	--	int¹		0	--	--	--	--
rs35395201^1,2	C,F	--	15493037(+)	`TTTTA-/AGACAG`	1	--	int¹		4		NA CSA	8
rs57132700^1,2	C	--	15493037(+)	`TTTTTT/AAGACA`	1	--	int¹		2		NA WA	4
rs183431640^1,2		--	15493399(+)	`CATTAC/TACTTA`	1	--	int¹		0	--	--	--	--
rs79874950^1,2	C	--	15493461(+)	`GCATTA/TACTTT`	1	--	int¹		0	--	--	--	--
rs75188226^1,2	F	--	15493548(+)	`GCTGAT/CGCAGG`	1	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for AKAP8L (15490859 - 15529952 bp)

Structural Variations
Database of Genomic Variants (DGV) 5 variations for AKAP8L: About this table

Variant ID	Type	Subtype	PubMed ID
dgv3746n71	CNV	Loss	21882294
nsv911133	CNV	Loss	21882294
dgv3747n71	CNV	Loss	21882294
nsv833765	CNV	Loss	17160897
nsv828465	CNV	Gain	20364138

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing AKAP8L

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 609475 OMIM disorders: --

9 diseases for AKAP8L:
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huntington's disease tonsillitis retinitis hypoxia

melanoma thyroiditis cerebritis endotheliitis

prostatitis

AKAP8L for disorders About GeneDecksing

Export disorders for AKAP8L 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)
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PubMed articles for AKAP8L gene, integrated from 10 sources (see all 48):
(articles sorted by number of sources associating them with AKAP8L)

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Identification, cloning and characterization of a novel nuclear protein, HA95, homologous to A-kinase anchoring protein 95. (PubMed id 10761695)^{1, 2, 3, 9} Orstavik S.... Skalhegg B.S. (Biol. Cell 2000)
A novel shuttle protein binds to RNA helicase A and activates the retroviral constitutive transport element. (PubMed id 10748171)^{1, 2, 3, 9} Westberg C.... Wong-Staal F. (J. Biol. Chem. 2000)
In vitro modulation of the interaction between HA95 and LAP2beta by cAMP signaling. (PubMed id 12950172)^{1, 2, 9} Martins S.B.... Collas P. (Biochemistry 2003)
cDNA cloning of a novel human gene NAKAP95, neighbor of A-kinase anchoring protein 95 (AKAP95) on chromosome 19p13.11-p13.12 region. (PubMed id 10697960)^{1, 2, 9} Seki N.... Muramatsu M.-A. (J. Hum. Genet. 2000)
A cancer-associated RING finger protein, RNF43, is a ubiquitin ligase that interacts with a nuclear protein, HAP95. (PubMed id 18313049)^{1, 2} Sugiura T.... Miyamoto K. (Exp. Cell Res. 2008)
Interaction of the nuclear matrix protein NAKAP with HypA and huntingtin: implications for nuclear toxicity in Huntington's disease pathogenesis. (PubMed id 16391387)^{1, 2} Sayer J.A.... Coghlan V.M. (NeuroMolecular Med. 2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
HA95 and LAP2 beta mediate a novel chromatin-nuclear envelope interaction implicated in initiation of DNA replication. (PubMed id 12538639)^{1, 2} Martins S.... Collas P. (J. Cell Biol. 2003)
Selection system for genes encoding nuclear-targeted proteins. (PubMed id 9853615)^{1, 2} Ueki N.... Muramatsu M.-A. (Nat. Biotechnol. 1998)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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)
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Entrez Gene: 26993	HGNC: 29857	AceView: AKAP8	Ensembl:ENSG00000011243	euGenes: HUgn26993
ECgene: AKAP8L	Kegg: 26993	H-InvDB: AKAP8L

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for AKAP8L	Pharmacogenomics, SNPs, Pathways

Intellectual Property for AKAP8L gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for AKAP8L gene:
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AKAP8L Gene

A Kinase (PRKA) Anchor Protein 8-Like

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AKAP8L Gene

A Kinase (PRKA) Anchor Protein 8-Like

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