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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

AKAP13 Gene

protein-coding GIFtS: 66
GCID: GC15P085925

A kinase (PRKA) anchor protein 13

(Previous name: lymphoid blast crisis oncogene )
(Previous symbol: LBC)

Explore 17 diseases affiliated with
AKAP13 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
A Kinase (PRKA) Anchor Protein 13¹ ²		Human Thyroid-Anchoring Protein 31² ³
BRX¹ ² ³ ⁵		Non-Oncogenic Rho GTPase-Specific GTP Exchange Factor² ³
LBC¹ ² ³ ⁵		Protein Kinase A-Anchoring Protein 13² ³
Lymphoid Blast Crisis Oncogene¹ ² ³		AKAP-13² ³
AKAP-Lbc¹ ² ³		PRKA13² ³
ARHGEF13¹ ²		LBC Oncogene² ³
HA-3¹ ²		P47¹
Ht31¹ ²		HT31³ ⁵
PROTO-LB¹ ²		PROTO-LBC²
C-Lbc¹		A-Kinase Anchor Protein 13²
Breast Cancer Nuclear Receptor-Binding Auxiliary Protein² ³		A-Kinase Anchoring Protein²
Guanine Nucleotide Exchange Factor Lbc² ³

External Ids:	HGNC: 371¹	Entrez Gene: 11214²	Ensembl: ENSG00000170776⁷	OMIM: 604686⁵	UniProtKB: Q12802³

Export aliases for AKAP13 gene to outside databases

Previous GC identifers: GC15M082290 GC15P079144 GC15P083511 GC15P083653 GC15P083724 GC15P083578 GC15P061986 GC15P085777

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

Entrez Gene summary for AKAP13:

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of

binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within

the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple

transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin

homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family

of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of

transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins

to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance

ligand-dependent activity of estrogen receptors alpha and beta. (provided by RefSeq, Jul 2012)

UniProtKB/Swiss-Prot: AKP13_HUMAN, Q12802

Function: Anchors cAMP-dependent protein kinase (PKA) and acts as an adapter protein to selectively couple G alpha-13

and Rho. Augments gene activation by the estrogen receptor in an element-specific and ligand-dependent manner.

Activates estrogen receptor beta by a p38 MAPK-dependent pathway. Stimulates exchange activity on Rho proteins in

vitro, but not on CDC42, Ras or Rac and may bind calcium ions

Gene Wiki entry for AKAP13

(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_000015.9 NC_018926.1 NT_010274.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the AKAP13 gene promoter:
Nkx3-1 AML1a Lmo2 Nkx3-1 v1 CUTL1 Meis-1b S8 Nkx6-1 Meis-1a Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AKAP13 promoter sequence

Search SABiosciences Chromatin IP Primers for AKAP13

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AKAP13

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

Entrez Gene cytogenetic band: 15q24-q25 Ensembl cytogenetic band: 15q25.3 HGNC cytogenetic band: 15q24-q25

AKAP13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKAP13 gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15P085925: view genomic region (about GC identifiers)

Start:	85,923,802 bp from pter	End:	86,292,586 bp from pter
Size:	368,785 bases	Orientation:	plus 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: AKP13_HUMAN, Q12802 (See protein sequence)

Recommended Name: A-kinase anchor protein 13

Size: 2813 amino acids; 307550 Da

Subunit: Binds cAMP-dependent protein kinase (PKA) and to the RII-alpha regulatory subunit of PKA. Interacts with ESR1,

ESR2, THRA, PPARA, RHOA and NME2

Subcellular location: Cytoplasm. Nucleus. Membrane

Sequence caution: Sequence=AAC50065.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=AAC50065.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=AAD21311.1;

Type=Frameshift; Positions=2614, 2647; Sequence=AAD40799.1; Type=Erroneous initiation; Note=Translation N-terminally

extended; Sequence=AAD40799.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=AAL40923.1;

Type=Frameshift; Positions=2614, 2647;

2 PDB 3D structures from and Proteopedia for AKAP13:

2DRN (3D)

2LG1 (3D)

Secondary accessions: Q14572 Q59FP6 Q86W90 Q8WXQ6 Q96JP6 Q96P79 Q9Y5T0 Q9Y5T6

Alternative splicing: 4 isoforms: Q12802-1 Q12802-2 Q12802-4 Q12802-5

Explore the universe of human proteins at neXtProt for AKAP13: NX_Q12802

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q12802

AKAP13 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001257475.1 NP_006729.4 NP_009131.2

ENSEMBL proteins:

ENSP00000453768 ENSP00000453634 ENSP00000378026 ENSP00000354718 ENSP00000453620

ENSP00000452622 ENSP00000452698 ENSP00000453205 ENSP00000378018

Reactome Protein details: Q12802
Human Recombinant Protein Products:

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	Novus Biologicals AKAP13 Protein Novus Biologicals AKAP13 Lysates
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	Browse ProSpec Recombinant Proteins
	Uscn Proteins for AKAP13

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005624	membrane fraction	--	--
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	TAS	--

AKAP13 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for AKAP13

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

AKAP13 for domains About GeneDecksing

5 InterPro domains/families:

IPR000219 DH-domain

IPR001849 Pleckstrin_homology

IPR002219 Prot_Kinase_C-like_PE/DAG-bd

IPR011993 PH_like_dom

IPR015721 RhoGEF-like

Graphical View of Domain Structure for InterPro Entry Q12802

ProtoNet protein and cluster: Q12802

2 Blocks protein families:

IPB000219 DH domain

IPB001849 Pleckstrin-like

UniProtKB/Swiss-Prot: AKP13_HUMAN, Q12802

Domain: Both the DH and PH domains are required for transforming activity

Similarity: Contains 1 DH (DBL-homology) domain

Similarity: Contains 1 PH domain

Similarity: Contains 1 phorbol-ester/DAG-type zinc finger

(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: AKP13_HUMAN, Q12802

Function: Anchors cAMP-dependent protein kinase (PKA) and acts as an adapter protein to selectively couple G alpha-13

and Rho. Augments gene activation by the estrogen receptor in an element-specific and ligand-dependent manner.

Activates estrogen receptor beta by a p38 MAPK-dependent pathway. Stimulates exchange activity on Rho proteins in

vitro, but not on CDC42, Ras or Rac and may bind calcium ions

Genatlas biochemistry entry for AKAP13:

A kinase (PRKA regulatory subunit RII) anchor protein 13

miRNA Products:		OriGene 3'-UTR Clone (see all 3): AKAP13 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AKAP13
		8/74 QIAGEN miScript miRNA Assays for microRNAs that regulate AKAP13 (see all 74):
		hsa-miR-607 hsa-miR-106a hsa-miR-219-5p hsa-miR-519a hsa-miR-629 hsa-miR-93 hsa-miR-376a* hsa-miR-761

		Browse SwitchGear 3'UTR luciferase reporter plasmids

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 AKAP13 (see all 7) OriGene shRNA RFP: AKAP13 OriGene siRNA: AKAP13
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for AKAP13

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKAP13

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004691	cAMP-dependent protein kinase activity	NAS	1618839
GO:0004871	signal transducer activity	TAS	8290273
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IEA	--
GO:0005515	protein binding	IPI	16301118
GO:0005543	phospholipid binding	IEA	--

AKAP13 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for AKAP13:

Decreased 12E8 tau but not tot

Increased apoptosis

Animal Models:
12 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Akap13):

cardiovascular system	cellular	craniofacial	embryogenesis	growth/size
hematopoietic system	homeostasis/metabolism	immune system	mortality/aging	muscle
nervous system	reproductive system

AKAP13 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

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cell death signalling via NRAGE, NRIF and NADE

Cell death signalling via NRAGE, NRIF and NADE	1.00	G alpha (12/13) signalling events	0.39
NRAGE signals death through JNK	0.74	Rho GTPase cycle	0.25
p75 NTR receptor-mediated signalling	0.73	Signaling by Rho GTPases	0.25

Activation of cAMP-Dependent PKA

	Activation of cAMP-Dependent PKA	1.00			Activation of PKA through GPCR	0.71
	cAMP Pathway	0.77			PKA Signaling	0.56

G Protein Signaling Pathways

	G Protein Signaling Pathways	1.00			Signal transduction_PKA signaling	0.23
	Signal transduction PKA signaling	0.23

Signaling by GPCR

	Signaling by GPCR	1.00			Signal Transduction	0.56
	GPCR downstream signaling	0.89

Regulation of Water Balance by Renal Aquaporins

Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation

0.40

Cytoskeleton remodeling_Role of PKA in cytoskeleton reorganisation

0.40

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for AKAP13

	Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
	G-protein signaling G-Protein alpha-12 signaling pathway
	Signal transduction PKA signaling

4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for AKAP13

	Activation of PKA through GPCR
	PKA Signaling
	cAMP Pathway
	Activation of cAMP-Dependent PKA

3 GeneGo (Thomson Reuters) Pathways for AKAP13

	Signal transduction PKA signaling
	Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
	G-protein signaling G-Protein alpha-12 signaling pathway

2 BioSystems Pathways for AKAP13

	G Protein Signaling Pathways
	Regulation of RhoA activity

5/10 Reactome Pathways for AKAP13 (see all 10)

	GPCR downstream signaling
	Signaling by Rho GTPases
	G alpha (12/13) signalling events
	Cell death signalling via NRAGE, NRIF and NADE
	Signaling by GPCR

AKAP13 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for AKAP13

STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

5/27 Interacting proteins for AKAP13 (Q12802^{1, 2, 3} ENSP00000354718⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 27)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
YWHAB	P31946²^,³, ENSP00000300161⁴	MINT-8006913 I2D: score=5 STRING: ENSP00000300161
TGM2	P21980¹^,³, ENSP00000355330⁴	EBI-1373806,EBI-727668 I2D: score=1 STRING: ENSP00000355330
ESR1	P03372¹^,³, ENSP00000206249⁴	EBI-1373806,EBI-78473 I2D: score=3 STRING: ENSP00000206249
RHOA	P61586³, ENSP00000400175⁴	I2D: score=4 STRING: ENSP00000400175
YWHAG	P61981³, ENSP00000306330⁴	I2D: score=4 STRING: ENSP00000306330

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006915	apoptotic process	TAS	--
GO:0007264	small GTPase mediated signal transduction	TAS	--
GO:0035023	regulation of Rho protein signal transduction	IEA	--
GO:0035556	intracellular signal transduction	--	--
GO:0048011	nerve growth factor receptor signaling pathway	TAS	--

AKAP13 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

AKAP13 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for AKAP13

10/845 HMDB Compounds for AKAP13 (see all 845) About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--
Cyclic AMP	Cyclic AMP (see all 19)	60-92-4	--
DG(14:0/14:0/0:0)	DAG(14:0/14:0) (see all 9)	--	--
DG(14:0/14:1(9Z)/0:0)	DAG(14:0/14:1) (see all 15)	--	--
DG(14:0/15:0/0:0)	Diacylglycerol(29:0) (see all 9)	--	--
DG(14:0/16:0/0:0)	DAG(30:0) (see all 9)	--	--
DG(14:0/16:1(9Z)/0:0)	DG(30:1) (see all 15)	--	--
DG(14:0/18:0/0:0)	DG(14:0/18:0) (see all 9)	--	--
DG(14:0/18:1(11Z)/0:0)	Diacylglycerol (see all 15)	--	--
DG(14:0/18:1(9Z)/0:0)	1-myristoyl-2-oleoyl-sn-glycerol (see all 15)	--	--

10/24 Novoseek chemical compound relationships for AKAP13 gene (see all 24) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cyclic amp	53.3	5	16540556 (1), 17081989 (1), 16460837 (1), 10074940 (1)
forskolin	36.5	3	10887192 (1), 12777250 (1)
threonine	27.6	3	17200117 (1), 11823486 (1), 16700649 (1)
calcium	23.8	11	9620705 (2), 11258666 (1), 15652351 (1), 9545239 (1) (see all 6)
serine	20.6	3	17200117 (1), 11823486 (1), 16700649 (1)
ryanodine	18.2	3	12709444 (1), 11258666 (1), 15652351 (1)
potassium	15.8	5	15710486 (1), 11287423 (1), 16647783 (1), 16002409 (1) (see all 5)
isoproterenol	14	1	11731570 (1)
gdp	13.6	4	8910315 (3), 11696353 (1)
gtp	7.02	1	11696353 (1)

Search CenterWatch for drugs/clinical trials and news about AKAP13 / AKP13

(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 AKAP13 gene (4 alternative transcripts):

NM_001270546.1 NM_006738.5 NM_007200.4 NM_144767.3

Unigene Clusters for AKAP13:

A kinase (PRKA) anchor protein 13

Hs.459211 [show with all ESTs], Hs.710656 [show with all ESTs]

Unigene Representative Sequences: NM_006738, AK022014

18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):

ENST00000560571 ENST00000559362(uc002blt.1) ENST00000560302(uc002bls.3)

ENST00000394518(uc002blu.1 uc002blv.1 uc010bne.1 uc002blw.1)

ENST00000361243 ENST00000560256 ENST00000558166 ENST00000558811 ENST00000561337

ENST00000560340 ENST00000560676(uc010bnf.1) ENST00000560579 ENST00000559486

ENST00000560957 ENST00000558092 ENST00000557852 ENST00000560482 ENST00000559278

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		8/74 QIAGEN miScript miRNA Assays for microRNAs that regulate AKAP13 (see all 74):
		hsa-miR-607 hsa-miR-106a hsa-miR-219-5p hsa-miR-519a hsa-miR-629 hsa-miR-93 hsa-miR-376a* hsa-miR-761

		Browse SwitchGear 3'UTR luciferase reporter plasmids

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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AKAP13

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AKAP13

Additional cDNA sequence: AK022014.1

24/32 DOTS entries (see all 32):

DT.95104508 DT.95291719 DT.100795176 DT.40214988 DT.95298158 DT.100795183 DT.307348 DT.86857503

DT.100686517 DT.100713955 DT.121018027 DT.121018104 DT.99941659 DT.75170979 DT.97770739 DT.92453875

DT.92453880 DT.95275310 DT.100032362 DT.100646339 DT.121018025 DT.121018132 DT.40263503 DT.70105049

24/60 AceView cDNA sequences (see all 60):

BQ225311 AI885889 R82598 BM129627 AA835490 CA416389 AI864082 AI679155

AW440054 BM673486 CA424347 T40618 BM969106 BQ021860 BM707378 N41455

T50096 AA704565 BM129808 N77147 C01311 AA332594 BG011313 AI955468

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for AKAP13 (see all 6) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	^	5	^	6	^	7a	·	7b	^	8	^	9	^	10a	·	10b	^	11	^	12	^	13	^	14	^	15a	·	15b	^	16	^	17	^	18	^	19	^	20	^	21	^
SP1:											-																				-		-
SP2:																																	-
SP3:
SP4:
SP5:

ExUns:	22a	·	22b	^	23
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for AKAP13

(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

AKAP13 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGATGCGCAG

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AKAP13 expression in embryonic tissues and stem cells

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

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Reproductive System

Early Gonad

Testis Somatic Cells

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See AKAP13 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AKAP13

SOURCE GeneReport for Unigene clusters: Hs.459211 Hs.710656

UniProtKB/Swiss-Prot: AKP13_HUMAN, Q12802

Tissue specificity: Expressed as a 5.3 kb transcript in hematopoietic cells, skeletal muscle, lung, heart,

estrogen-responsive reproductive tissues, including breast ductal epithelium. Also found in testis and breast cancer

cell lines. Predominantly expressed as a 10 kb transcript in the heart and at lower levels in the lung, placenta,

kidney, pancreas, skeletal muscle and liver. Transcripts of between 6-9 kb are also expressed in myeloid and lymphoid

lineages, a variety of epithelial tissues, and in skeletal muscle

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(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 animals.

Orthologs for AKAP13 gene from 3/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
chicken (Gallus gallus)	Aves	AKAP13¹	A kinase (PRKA) anchor protein 13	69.78(n) 68.05(a)	415502 XM_413874.3 XP_413874.3
zebrafish (Danio rerio)	Actinopterygii	wu:fi40d09¹	wu:fi40d09	50.25(n) 42.14(a)	556620 XM_679462.5 XP_684554.5
fruit fly (Drosophila melanogaster)	Insecta	CG10188³	Rho guanyl-nucleotide exchange factor	30(a)	--

ENSEMBL Gene Tree for AKAP13 (if available)
TreeFam Gene Tree for AKAP13 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for AKAP13 gene

ARHGEF2² ARHGEF3² ARHGEF12² ARHGEF11² ARHGEF18² ARHGEF28² NET1² ARHGEF1²

5 SIMAP similar genes for AKAP13 using alignment to 8 protein entries: AKP13_HUMAN (see all proteins):

ARHGEF28 RGNEF ARHGEF18 ARHGEF2 ARHGEF1

AKAP13 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 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs193186260^1,2		--	85921868(+)	`GATGGC/GGTTTC`	2	--	us2k¹		0	--	--	--	--
rs12437885^1,2	C,H,	--	85921869(+)	`ATGGCG/ATTTCA`	2	--	us2k¹		5		NA WA EA	362
rs4843055^1,2	C,F,A,	--	85921895(+)	`ggtctC/Tgaact`	2	--	us2k¹		7		NA CSA WA	247
rs4843056^1,2	C,A,	--	85921907(+)	`ctgggC/Gtcgag`	2	--	us2k¹		3		NA	124
rs150691814^1,2		--	85921915(+)	`GAGCAA/CTCTGC`	2	--	us2k¹		0	--	--	--	--
rs183328001^1,2		--	85921965(+)	`GCCACC/TGCGCC`	2	--	us2k¹		0	--	--	--	--
rs12440340^1,2	C,H,	--	85921967(+)	`CACCGC/TGCCAG`	2	--	us2k¹		4		NA EA	244
rs188069313^1,2		--	85922076(+)	`AGAACG/TGGGCA`	2	--	us2k¹		0	--	--	--	--
rs139988701^1,2		--	85922109(+)	`CTTTTC/TTTTTT`	2	--	us2k¹		0	--	--	--	--
rs149339671^1,2		--	85922257(+)	`GGTGAA/GACACT`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for AKAP13 (85923802 - 86173802 bp, first 250kb of AKAP13)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 16 variations for AKAP13
14 CNVs: 5800 66860 34473 7077 66859 8802 49606 49607 87814 77055 34474 102151 53215 43437
2 Indels: 49605 41376
Human Gene Mutation Database (HGMD): AKAP13

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

AKAP13 for disorders           About GeneDecksing

OMIM gene information: 604686    OMIM disorders: --

17 diseases for AKAP13:    About MalaCards

breast cancer long qt syndrome thyroiditis relapsing fever

mantle cell lymphoma cystic fibrosis familial breast cancer fibrosis

astrocytoma prostate cancer spasticity alzheimer's disease

endometriosis colorectal cancer prostatitis leukemia

neuronitis

2 diseases from the University of Copenhagen DISEASES database for AKAP13:

Relapsing fever Cervical cancer

8 Novoseek disease relationships for AKAP13 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cardiac hypertrophy	21.6	1	19696020 (1)
cystic fibrosis	4.64	1	10600928 (1)
cancer	2.68	6	16234258 (2), 15059896 (1), 19696020 (1)
tumors	1.5	1	17577780 (1)
astrocytoma	0	1	11278452 (1)
colon cancer	0	1	15059896 (1)
breast cancer	0	3	16412732 (2), 16234258 (1)
prostate cancer	0	3	16301118 (2)

Genetic Association Database (GAD): AKAP13
Human Genome Epidemiology (HuGE) Navigator: AKAP13 (9 documents)

Export disorders for AKAP13 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 AKAP13 gene, integrated from 9 sources (see all 236):
(articles sorted by number of sources associating them with AKAP13)

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

Characterization of Brx, a novel Dbl family member that modulates estrogen receptor action. (PubMed id 9627117)^{1, 2, 3, 9} Rubino D.... Segars J. (1998)
Lbc proto-oncogene product binds to and could be negatively regulated by metastasis suppressor nm23-H2. (PubMed id 15249197)^{1, 2, 9} Iwashita S.... Miyamoto M. (2004)
Ht31: the first protein kinase A anchoring protein to integrate protein kinase A and Rho signaling. (PubMed id 11696353)^{1, 2, 9} Klussmann E.... Rosenthal W. (2001)
Association of genetic variants in the Rho guanine nucleotide exchange factor AKAP13 with familial breast cancer. (PubMed id 16234258)^{1, 4, 9} Wirtenberger M....Burwinkel B. (2006)
Novel human oncogene lbc detected by transfection with distinct homology regions to signal transduction products. (PubMed id 8290273)^{1, 2, 9} Toksoz D. and Williams D.A. (1994)
AKAP-Lbc anchors protein kinase A and nucleates Galpha 12-selective Rho-mediated stress fiber formation. (PubMed id 11546812)^{1, 2, 9} Diviani D.... Scott J.D. (2001)
A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)^{1, 2} Beausoleil S.A.... Gygi S.P. (2006)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
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. (2004)
The proto-oncoprotein Brx activates estrogen receptor beta by a p38 mitogen-activated protein kinase pathway. (PubMed id 11579095)^{1, 2} Driggers P.H.... Rubino D.M. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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: 11214	HGNC: 371	AceView: AKAP13.1	Ensembl:ENSG00000170776	euGenes: HUgn11214
ECgene: AKAP13	H-InvDB: AKAP13

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for AKAP13	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for AKAP13	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for AKAP13 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 AKAP13 gene:
Search GeneIP for patents involving AKAP13

GeneCards and IP:
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AKAP13 Gene

A kinase (PRKA) anchor protein 13

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AKAP13 (Gene Symbol)
A Kinase (PRKA) Anchor Protein 13
BRX
LBC
Lymphoid Blast Crisis Oncogene
AKAP-Lbc
ARHGEF13
HA-3
Ht31
PROTO-LB
C-Lbc
Breast Cancer Nuclear Receptor-Binding Auxiliary Protein
Guanine Nucleotide Exchange Factor Lbc
Human Thyroid-Anchoring Protein 31
Non-Oncogenic Rho GTPase-Specific GTP Exchange Factor
Protein Kinase A-Anchoring Protein 13
AKAP-13
PRKA13
LBC Oncogene
P47
HT31
PROTO-LBC
A-Kinase Anchor Protein 13
A-Kinase Anchoring Protein

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AKAP13 Gene

A kinase (PRKA) anchor protein 13

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