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CASK Gene

protein-coding GIFtS: 63

GC0XM041259

calcium/calmodulin-dependent serine protein kinase (MAGUK family)
(Previous name: trinucleotide repeat containing 8 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: TNRC8)

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

Aliases
CAGH39 ^¹, ²
CMG ^², ⁵
EC 2.7.11.1 ^³
FGS4 ^², ⁵
FLJ22219 ^²
FLJ31914 ^²
LIN2 ^¹, ², ³
MICPCH ^², ⁵
TNRC8 ^²
hCASK ^³

Descriptions
CAMGUK protein ^²
Calcium/calmodulin-dependent serine protein kinase ^², ³
Lin-2 homolog ^³
calcium/calmodulin-dependent serine protein kinase (MAGUK family) ^²
calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinase ^²
trinucleotide repeat containing 8 ^¹, ²

External Ids
HGNC: 1497¹
Entrez Gene: 8573²
UniProtKB: O14936³
Ensembl: ENSG00000147044⁷

Search outside databases for aliases for CASK gene

Previous GC identifers: GC0XM039406 GC0XM039627 GC0XM040223 GC0XM040409 GC0XM041134

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

EntrezGene summary for CASK:

The CASK gene encodes a calcium/calmodulin-dependent serine protein kinase that is a member of the

membrane-associated guanylate kinase (MAGUK) protein family. MAGUKs are scaffolding proteins

associated with intercellular junctions (Atasoy et al., 2007 [PubMed 17287346]).[supplied by OMIM]

UniProtKB/Swiss-Prot: CSKP_HUMAN, O14936

Function: Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring

and ion channel trafficking. Contributes to neural development and regulation of gene expression

via interaction with the transcription factor TRB1. Binds to cell-surface proteins, including

amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular

matrix and the actin cytoskeleton via its interaction with syndecan and with the

actin/spectrin-binding protein 4.1

Gene Wiki entry for CASK

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the CASK gene

Entrez Gene cytogenetic band: Xp11.4 Ensembl cytogenetic band: Xp11.4 HGNC cytogenetic band: Xp11.4

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

GeneLoc gene densities for chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM041259: (about GC identifiers)

Start:	41,263,408 bp from pter
End:	41,667,660 bp from pter
Size:	404,253 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000023.9 NT_079573.3

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: CSKP_HUMAN, O14936 (See protein sequence)

Recommended Name: Peripheral plasma membrane protein CASK

Size: 926 amino acids; 105123 Da

Cofactor: Unlike other protein kinases, does not require a divalent cation such as magnesium for

catalytic activity

Subunit: Binds WHRN and NRXN1 cytosolic tail. Interacts with CASKIN1, APBA1, LIN7(A/B/C) and L27

domain of DLG1 and isoform 2 of DLG4 (By similarity). CASK and LIN7 form two mutually exclusive

tripartite complexes with APBA1 or CASKIN1 (By similarity). Interacts with FCHSD2. Interacts with

TSPYL2. Part of a complex containing CASK, TRB1 and TSPYL2 (By similarity). Interacts with KIRREL3

Subcellular location: Nucleus (By similarity). Cytoplasm (By similarity). Cell membrane; Peripheral

membrane protein (By similarity)

PDB structures from and Proteopedia :

1KGD (3D)

1KWA (3D)

1ZL8 (3D)

3C0G (3D)

3C0H (3D)

3C0I (3D)

Secondary accessions: A6NES1 O43215 Q17RI4 Q59HA0 Q5VT16 Q5VT17 Q5VT18 Q5VT19 Q66T42 Q9BYH6 Q9NYB2

Q9NYB3

Alternative splicing: 6 isoforms: O14936-1 O14936-2 O14936-3 O14936-4 O14936-5 O14936-6

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_001119526.1 NP_001119527.1 NP_003679.2

ENSEMBL proteins:

ENSP00000367408 ENSP00000367396 ENSP00000354641 ENSP00000367410 ENSP00000367400 ENSP00000367405

ENSP00000322727 ENSP00000367421

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (CASK)
	Browse Abnova for Human Recombinant Proteins

OriGene Purified Recombinant Human Protein: CASK

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IEA	--
GO:0005886	plasma membrane	TAS	9660868
GO:0015629	actin cytoskeleton	TAS	9660868

About this table

Antibodies for CASK:

	Invitrogen Antibodies for CASK
	Millipore Mono- and Polyclonal Antibodies for the study of CASK
	Sigma-Aldrich Antibody Arrays and Antibodies for CASK
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for CASK
	Antibodies from Abcam (CASK), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (CASK)
	Novus Biologicals Antibody for CASK

Assays for CASK:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

Graphical View of Domain Structure for InterPro Entry O14936

ProtoNet protein and cluster: O14936

5 Blocks protein families:

IPB001452 SH3 domain signature

IPB001478 PDZ/DHR/GLGF domain

IPB004172 L27 domain

IPB008144 Guanylate kinase

IPB011511 Variant SH3

UniProtKB/Swiss-Prot: CSKP_HUMAN, O14936

Domain: The first L27 domain binds DLG1 and the second L27 domain probably binds LIN7 (By

similarity)

Domain: The protein kinase domain mediates the interaction with FCHSD2

Similarity: In the N-terminal section; belongs to the protein kinase superfamily. CAMK Ser/Thr

protein kinase family. CaMK subfamily

Similarity: Belongs to the MAGUK family

Similarity: Contains 1 guanylate kinase-like domain

Similarity: Contains 2 L27 domains

Similarity: Contains 1 PDZ (DHR) domain

Similarity: Contains 1 protein kinase domain

Similarity: Contains 1 SH3 domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CASK)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (CASK)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001126054

Applied Biosystems Silencer® siRNAs for CASK

Sigma-Aldrich siRNA and siRNA Panels for CASK

Sigma-Aldrich shRNA Panels and shRNA for CASK

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001126054
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001126054
untagged cDNA clones in CMV expression vector (see all 3): NM_001126054

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_003688

UniProtKB/Swiss-Prot: CSKP_HUMAN, O14936

Function: Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring

and ion channel trafficking. Contributes to neural development and regulation of gene expression

via interaction with the transcription factor TRB1. Binds to cell-surface proteins, including

amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular

matrix and the actin cytoskeleton via its interaction with syndecan and with the

actin/spectrin-binding protein 4.1

Catalytic activity: ATP + a protein = ADP + a phosphoprotein

Enzyme regulation: Differs from archetypal CaMK members in that the kinase domain exhibits a

constitutively active conformation and the autoinhibitory region does not engage in direct contact

with the ATP-binding cleft, although it still binds Ca(2+)/CAM

Biophysicochemical properties: Kinetic parameters: KM=563 uM for ATP; Note=Kinetics of

autophosphorylation assay were measured, rather than phosphorylation of an exogenous substrate;

Enzyme Number (IUBMB): EC 2.7.11.1

Genatlas biochemistry entry for CASK:

membrane associated guanylate kinase,Drosophila CAMGUK homolog,expressed in synaptic membranes of

the central nervous system

6 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Cask):

craniofacial	digestive/alimentary	growth/size	lethality-prenatal/perinatal	nervous system
respiratory system

5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0004385	guanylate kinase activity	TAS	9660868
GO:0004674	protein serine/threonine kinase activity	IEA	--
GO:0005516	calmodulin binding	IEA	--
GO:0005524	ATP binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

2 Sigma-Aldrich "Your Favorite Gene" Pathways for CASK (Your Favorite Gene powered by Ingenuity)

Tight Junction Signaling
Purine Metabolism

GeneDecks CASK for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for CASK

5/53 Interacting proteins for CASK (ENSP00000367405³ O14936^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 53 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ID1	P41134¹	STRING (score=.724) EBI-1215506, EBI-1215527
EPS8	Q12929²	STRING (score=.778) MINT-2730173 MINT-2730155 MINT-2825320
LIN7A	O14910²	STRING (score=.988) MINT-2730201 MINT-2730090
CNTNAP4	Q9C0A0²	STRING (score=.879) MINT-58197
SDC1	P18827²	STRING (score=.989) MINT-58222

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2 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006468	protein amino acid phosphorylation	IEA	--
GO:0007155	cell adhesion	TAS	9660868

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for CASK
3 Novoseek chemical compound relationships for CASK gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
guanylate	77.45	15	11120739 (1), 12641734 (1), 19125693 (1), 9178262 (1) (see all 9)
calcium	41.87	21	11120739 (2), 19125693 (2), 18019060 (2), 18606847 (1) (see all 12)
tyrosine	4.47	1	16602692 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CASK)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (CASK)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001126054

Sigma-Aldrich siRNA and siRNA Panels for CASK

Sigma-Aldrich shRNA Panels and shRNA for CASK

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001126054 NM_001126055 NM_003688

REFSEQ mRNAs for CASK gene (3 alternative transcripts):

NM_001126054.2 NM_001126055.2 NM_003688.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001126054 NM_001126055 NM_003688

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001126054
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001126054
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_001126054

Additional cDNA sequence:

AB039327.2 AB208859.1 AF032119.1 AF035582.1 AF262404.1 AF262405.1 AK025872.1 AK056476.1

AK313399.1 AY705392.1 BC029936.1 BC035990.1 BC117311.1 BC143454.1 BC143456.1 CR611825.1

15 DOTS entries:

DT.214767 DT.217027 DT.100820409 DT.91902635 DT.92434324 DT.121285410 DT.40111714 DT.121285489

DT.100828322 DT.70100249 DT.121285394 DT.75120166 DT.92434325 DT.92434327 DT.95227912

24/124 AceView cDNA sequences (see all 124 ):

AV707947 AI678523 BQ775180 CB240993 CA312343 BF063482 BC035990 BG697584

AA586558 BF434865 CB157686 AI493971 AF262404 AU137291 BX099511 H88880

BX477825 AW851147 H88879 R98625 AI016718 AW593454 BF725583 W68164

highest scoring ESTs for CASK:

AF032119 AF035582 AI379027 AW027103 AW028245 AW977534 N92643 AA016057 AA016113 AA045964

Unigene Cluster for CASK:

Calcium/calmodulin-dependent serine protein kinase (MAGUK family)

Hs.495984 [show with all ESTs]

Unigene Representative Sequence: NM_003688

GeneLoc Exon Structure

8 Ensembl transcripts including schematic representations:

ENST00000378166 ENST00000378154 ENST00000361962 ENST00000378168 ENST00000378158 ENST00000378163

ENST00000318588 ENST00000378179

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

CASK expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for CASK

¹ / ² / ³

12 probe-sets matching CASK gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
36414_s_at²^{, 3}	U95-A	1	1.00	1.00	0.79	0.88	AF032119	1.00	0.85	0.93	1
61707_at²^{, 3}	U95-C	1	1.00	1.00	0.84	1.18	AI346040	0.20	0.17	0.18	2
88441_g_at²^{, 3}	U95-D	1	1.00	1.00	0.69	0.91	AI659225	0.60	1.00	0.82	1
31854_at²^{, 3}	U95-A	1	1.00	1.00	0.79	1.07	AF035582	1.00	0.85	0.93	1
238699_s_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AI659225	0.60	1.00	0.82	1
207620_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_003688	0.60	1.00	0.82	1
211208_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AB039327	0.60	0.75	0.68	1
227156_at²	U133-B	1	1.00	1.00	--	--	--	--	--	--	--
238699_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
207620_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211208_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
227156_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks CASK for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TAGTGAAATG

SOURCE GeneReport for Unigene cluster: Hs.495984
Expression variation in blood from EXPOLDB for CASK
UniProtKB/Swiss-Prot: CSKP_HUMAN, O14936
Tissue specificity: Ubiquitous. Expression is significantly greater in brain relative to kidney,
lung, and liver and in fetal brain and kidney relative to lung and liver

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for CASK gene from 5/13 species (see all 13 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	CASK¹	--	calcium/calmodulin-dependent serine protein kinase more	95.22(n) 99.57(a)	480887 XM_845525.1 XP_850618.1
cow (Bos taurus)	CASK¹	--	calcium/calmodulin-dependent serine protein kinase more	95.58(n) 99.57(a)	404149 XM_001249492.1 XP_001249493.1
rat (Rattus norvegicus)	Cask¹	--	calcium/calmodulin-dependent serine protein kinase more	94.57(n) 99.23(a)	29647 NM_022184.1 NP_071520.1
mouse (Mus musculus)	Cask^{1, 5}	X (4.20 cM)⁵	calcium/calmodulin-dependent serine protein kinase more^{1, 5}	94.96(n)¹ 99.55(a)¹	12361¹ NM_009806.2¹ NP_033936.2¹ AK029410⁵ AK136523⁵ (see all 17)
chicken (Gallus gallus)	CASK¹	--	calcium/calmodulin-dependent serine protein kinase more	88.7(n) 98.79(a)	418565 XM_416769.2 XP_416769.2

About this table Species with no ortholog for CASK

ENSEMBL Gene Tree for CASK

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

Paralogs for CASK gene

MPP1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/955 NCBI SNPs in CASK are shown (see all 955 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 308)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs3203642^1,2	A,C,F,H,O	41259341(-)	`CGGAAC/TAACCA`	3	--	ut3¹		13	MN EU EA WA	1022
	rs865205^1,2	A,C,F,H,O	41668536(+)	`ACTAGA/CGACCA`	1	--	ng3¹		4	EU EA WA	418
	rs5917432^1,2	A,C,F,H	41260945(+)	`TCTTTT/CCAAAG`	3	--	ut3¹ ese³ trp³		4	EU EA WA	416
	rs5918192^1,2	A,C,F,H	41259467(+)	`TCAGCT/CCCTGG`	3	--	ut3¹ ese³		4	EU EA WA	418
	rs864570^1,2	A,C,F,H	41668668(+)	`GAACAG/AAATGC`	1	--	ng3¹		11	NA EA EU WA	878
	rs5918193^1,2	A,C,F,H	41260073(+)	`AGTAGC/TAGCTA`	3	--	ut3¹ ese³		4	EU EA WA	418
	rs1213085^1,2	C,F	41667937(+)	`CAACCC/GGTCGG`	1	--	ng3¹		1	MN	184
	rs12842195^1,2	C,H	41286888(+)	`CCTACC/ATGCAT`	3	Y/D L/V	mis¹		4	EU EA WA	418
	rs17315800^1,2	F,H	41331149(+)	`GCGTCG/ATTATT`	3	N/N	syn¹ ese³		7	NA EU EA WA	562
--	rs41431245^1,2	F	41483647(-)	`CATTAT/CATGAG`	3	Y/Y	syn¹		4	EU EA WA	208

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HapMap Linkage Disequilibrium images for CASK (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 300172 disorders: 300749 300422

UniProtKB/Swiss-Prot: CSKP_HUMAN, O14936

Defects in CASK are the cause of mental retardation and microcephaly with pontine and

cerebellar hypoplasia (MICPCH) [MIM:300749]. MICPCH is characterized by severe mental retardation,

microcephaly and disproportionate pontine and cerebellar hypoplasia

Human Gene Mutation Database: CASK

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/80 PubMed articles for CASK gene (see all 80 ):

Human CASK/LIN-2 binds syndecan-2 and protein 4.1 and localizes to the basolateral membrane of epithelial cells. (PubMed id 9660868)^{1, 3, 4} Cohen A.R....Anderson J.M. (1998)
CASK Functions as a Mg2+-independent neurexin kinase. (PubMed id 18423203)^{3, 4} Mukherjee K....Wahl M.C. (2008)
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. (PubMed id 19165920)^{3, 4} Najm J....Kutsche K. (2008)
Mapping and expression analysis of the human CASK gene. (PubMed id 11003712)^{3, 4} Stevenson D.... Wilson J.B. (2000)
The location of human CASK at Xp11.4 identifies this gene as a candidate for X-linked optic atrophy. (PubMed id 9722958)^{2, 3} Dimitratos S.D....Bryant P.J. (1998)
Crystal structure of the hCASK PDZ domain reveals the structural basis of class II PDZ domain target recognition. (PubMed id 9546224)^{3, 4} Daniels D.L.... Bruenger A.T. (1998)
Human calcium/calmodulin-dependent serine protein kinase regulates the expression of p21 via the E2A transcription factor. (PubMed id 19125693)^{1, 3} Sun R....Xia Z. (2009)
The MAGUK-family protein CASK is targeted to nuclei of the basal epidermis and controls keratinocyte proliferation. (PubMed id 18664494)^{1, 3} Ojeh N....Maatta A. (2008)
Association of junctional adhesion molecule with calcium/calmodulin-dependent serine protein kinase (CASK/LIN-2) in human epithelial caco-2 cells. (PubMed id 11120739)^{1, 3} Martinez-Estrada O.M....Bazzoni G. (2001)
hCASK and hDlg associate in epithelia, and their src homology 3 and guanylate kinase domains participate in both intramolecular and intermolecular interactions. (PubMed id 10993877)^{1, 3} Nix S.L....Walther Z. (2000)

(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, and/or H-InvDB)
About This Section

Entrez Gene: 8573	HGNC: 1497	AceView: CASK	Ensembl:ENSG00000147044	euGenes: HUgn8573
ECgene: CASK	H-InvDB: CASK

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Licensable Technologies for CASK
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for CASK:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for CASK-related products

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

	Predesigned and custom siRNAs for CASK		Antibodies for CASK
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for CASK		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Search for Recombinant Proteins
	Antibodies (CASK)
	Chimera RNAi (CASK)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Antibodies & Assays for CASK

	Recombinant Proteins (CASK)
	Antibodies (CASK)

	Tagged/untagged cDNA clones
	Validated SYBR primer pairs
	Purified proteins from HEK293T cells
	Western blot validated antibodies
	shRNA in GFP-retroviral vector

Search Tocris compounds for CASK

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

Antibodies for CASK

GeneCards Homepage - Last full update: 1 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 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

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
CASK Gene at Home site.
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CASK Gene

protein-coding GIFtS: 63

Aliases &
Descriptions
for CASK

Summaries
for CASK

Genomic Location
for CASK

Proteins
for CASK

Protein Domains/
Families
for CASK

Gene Function
for CASK

Pathways & Interactions
for CASK

Drugs & Compounds
for CASK

Transcripts
for CASK

Expression
for CASK

Orthologs
for CASK

Paralogs
for CASK

SNPs/Variants
for CASK

Disorders & Mutations
for CASK

Medical News
for CASK

Publications
for CASK

Search for CASK

Genome Databases showing CASK

Other Databases showing CASK

Specialized Databases showing CASK

Licensable Technologies
for CASK

Services
for CASK

Gene Index: 3 5 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

CASK Gene

protein-coding GIFtS: 63

Aliases & Descriptionsfor CASK

Summariesfor CASK

Genomic Locationfor CASK

Proteinsfor CASK

Protein Domains/Familiesfor CASK

Gene Functionfor CASK

Pathways & Interactionsfor CASK

Drugs & Compoundsfor CASK

Transcriptsfor CASK

Expression for CASK

Orthologsfor CASK

Paralogsfor CASK

SNPs/Variantsfor CASK

Disorders & Mutationsfor CASK

Medical Newsfor CASK

Publicationsfor CASK

Search for CASK

Genome Databases showing CASK

Other Databases showing CASK

Specialized Databases showing CASK

Licensable Technologiesfor CASK

Servicesfor CASK

Gene Index: 3 5 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

Aliases &
Descriptions
for CASK

Summaries
for CASK

Genomic Location
for CASK

Proteins
for CASK

Protein Domains/
Families
for CASK

Gene Function
for CASK

Pathways & Interactions
for CASK

Drugs & Compounds
for CASK

Transcripts
for CASK

Expression
for CASK

Orthologs
for CASK

Paralogs
for CASK

SNPs/Variants
for CASK

Disorders & Mutations
for CASK

Medical News
for CASK

Publications
for CASK

Licensable Technologies
for CASK

Services
for CASK