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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CTTNBP2 Gene

protein-coding GIFtS: 53
GCID: GC07M117350

cortactin binding protein 2

(Previous name: cortactin binding protein 2 )
(Previous symbols: CORTBP2, C7orf8)

Explore 4 diseases affiliated with
CTTNBP2 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
Cortactin Binding Protein 2¹ ²		Orf4¹ ²
CORTBP2¹ ² ³ ⁵		Cortactin-Binding Protein 2²
C7orf8¹ ² ³		CortBP2³
KIAA1758¹ ³ ⁵

External Ids:	HGNC: 15679¹	Entrez Gene: 83992²	Ensembl: ENSG00000077063⁷	OMIM: 609772⁵	UniProtKB: Q8WZ74³

Export aliases for CTTNBP2 gene to outside databases

Previous GC identifers: GC07M116906 GC07M116944 GC07M117137 GC07M111716

(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 CTTNBP2:

This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts

with a central regulator of the actin cytoskeleton. (provided by RefSeq, Jul 2008)

Gene Wiki entry for CTTNBP2

(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_000007.13 NC_018918.1 NT_007933.15 NT_079596.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CTTNBP2 gene promoter:
E2F-4 E2F-3a HFH-3 RFX1 E2F-5 Nkx2-5 E2F-2 FOXI1 E2F-1 E2F
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CTTNBP2 promoter sequence

Search SABiosciences Chromatin IP Primers for CTTNBP2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CTTNBP2

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

Entrez Gene cytogenetic band: 7q31 Ensembl cytogenetic band: 7q31.31 HGNC cytogenetic band: 7q31

CTTNBP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CTTNBP2 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M117350: view genomic region (about GC identifiers)

Start:	117,350,705 bp from pter	End:	117,514,193 bp from pter
Size:	163,489 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 116,746,141-116,908,979

(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: CTTB2_HUMAN, Q8WZ74 (See protein sequence)

Recommended Name: Cortactin-binding protein 2

Size: 1663 amino acids; 181051 Da

Subunit: Interacts with CTTN/cortactin SH3 domain (By similarity)

Secondary accessions: O43389 Q7LG11 Q9C0A5

Explore the universe of human proteins at neXtProt for CTTNBP2: NX_Q8WZ74

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8WZ74

CTTNBP2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_219499.1

ENSEMBL proteins:

ENSP00000160373 ENSP00000389576 ENSP00000397678 ENSP00000389491 ENSP00000395925

ENSP00000406142 ENSP00000396014 ENSP00000405831 ENSP00000393373

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	Uscn Proteins for CTTNBP2

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:0008021	synaptic vesicle	IEA	--

CTTNBP2 for ontologies About GeneDecksing

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

CTTNBP2 for domains About GeneDecksing

3 InterPro domains/families:

IPR019131 Cortactin-binding_p2_N

IPR002110 Ankyrin_rpt

IPR020683 Ankyrin_rpt-contain_dom

Graphical View of Domain Structure for InterPro Entry Q8WZ74

ProtoNet protein and cluster: Q8WZ74

1 Blocks protein family: IPB001064 Beta and gamma crystallin

UniProtKB/Swiss-Prot: CTTB2_HUMAN, Q8WZ74

Similarity: Contains 6 ANK repeats

(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

miRNA Products:		OriGene 3'-UTR Clone: CTTNBP2 Browse MicroRNA Expression Plasmids
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTTNBP2

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0017124	SH3 domain binding	IEA	--

CTTNBP2 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for CTTNBP2:

Increased gamma-H2AX phosphory

Synthetic lethal with Ras

(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:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CTTNBP2

STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

5/25 Interacting proteins for CTTNBP2 (Q8WZ74³ ENSP00000160373⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 25)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CCT8	P50990³, ENSP00000286788⁴	I2D: score=2 STRING: ENSP00000286788
CTTNBP2NL	Q9P2B4³, ENSP00000271277⁴	I2D: score=2 STRING: ENSP00000271277
PPP2CB	P62714³, ENSP00000221138⁴	I2D: score=2 STRING: ENSP00000221138
PPP2R1A	P30153³, ENSP00000324804⁴	I2D: score=2 STRING: ENSP00000324804
STK24	Q9Y6E0³, ENSP00000365730⁴	I2D: score=2 STRING: ENSP00000365730

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:0007420	brain development	IEA	--

CTTNBP2 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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CTTNBP2
Search CenterWatch for drugs/clinical trials and news about CTTNBP2 / CTTB2

(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,
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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 CTTNBP2 gene:

NM_033427.2

Unigene Cluster for CTTNBP2:

Cortactin binding protein 2

Hs.592285 [show with all ESTs]

Unigene Representative Sequence: NM_033427

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

ENST00000160373(uc003vjf.3) ENST00000446636 ENST00000441556 ENST00000445366

ENST00000435233 ENST00000482124 ENST00000416239 ENST00000467088 ENST00000434890

ENST00000487820 ENST00000454375 ENST00000412853

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		hsa-miR-92a hsa-miR-137 hsa-miR-367 hsa-miR-25 hsa-miR-32 hsa-miR-135b hsa-miR-363 hsa-miR-101

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Additional cDNA sequence:

AB051545.1 AF377960.1 AK091548.1 AK096565.1 AK308081.1 BC019644.1 BC106000.1

6 DOTS entries:

DT.452364 DT.40292735 DT.100640891 DT.121054004 DT.40204792 DT.92060230

24/50 AceView cDNA sequences (see all 50):

BM686003 AL137685 Z43352 Z41481 F08491 AA323075 BX952377 AL713390

CD678319 AX747051 AB051545 BI093816 F02895 BM663650 AF377960 CD635151

R73966 BX493843 AK096565 W24687 CD677746 BC019644 CD635155 Z43555

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for CTTNBP2 (see all 8) About this scheme

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

ExUns:	20	^	21a	·	21b	^	22	^	23	^	24	^	25	^	26	^	27
SP1:
SP2:
SP3:
SP4:							-
SP5:

ECgene alternative splicing isoforms for CTTNBP2

(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

CTTNBP2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

CTTNBP2 expression in embryonic tissues and stem cells

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

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Spinal Cord

Spinal Dorsal Columns

Dorsal Spinal Cord Progenitor Cells

Spinal Cord

Brain

Brain

Neural Tube

Spinal Dorsal Columns

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CTTNBP2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CTTNBP2

SOURCE GeneReport for Unigene cluster: Hs.592285

UniProtKB/Swiss-Prot: CTTB2_HUMAN, Q8WZ74

Tissue specificity: Highest expression in brain. Also expressed in kidney, pancreas, lung, heart, liver, skeletal

muscle and placenta

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In Situ
Assay Products:

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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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CTTNBP2 gene from 6/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CTTNBP2¹	cortactin binding protein 2	77.12(n) 74.07(a)		417766 NM_001098539.1 NP_001092009.1
lizard (Anolis carolinensis)	Reptilia	CTTNBP2⁶	--	67(a)	1 ↔ 1	5(61655815-61723515)
African clawed frog (Xenopus laevis)	Amphibia	Xl.23884²	Xenopus laevis transcribed sequence with weak similarity to protein refNP_219499.1 (H.sapiens) cortactin-binding protein 2 [Homo sapiens] less	76.03(n)		CD301000.1
zebrafish (Danio rerio)	Actinopterygii	cttnbp2¹	cortactin binding protein 2	58.68(n) 52.12(a)		555837 XM_678481.3 XP_683573.3
fruit fly (Drosophila melanogaster)	Insecta	CG10915⁶	--	20(a)	1 → many	2R(14048225-14051714)
worm (Caenorhabditis elegans)	Secernentea	C49H3.6⁶	Protein C49H3.6, isoform a	16(a)	1 → many	IV(7903726-7907071)

ENSEMBL Gene Tree for CTTNBP2 (if available)
TreeFam Gene Tree for CTTNBP2 (if available)

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

Paralogs for CTTNBP2 gene

CTTNBP2NL² FILIP1² FILIP1L² LUZP1²

5 SIMAP similar genes for CTTNBP2 using alignment to 14 protein entries: CTTB2_HUMAN (see all proteins):

CTTNBP2NL PPP1R12A DKFZp547A023 DKFZp761E1322 MTPN

CTTNBP2 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 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs111672213^1,2		--	116746098(+)	`TGTTAC/TAGAGA`	1	--	ds500¹		1		CSA	2
rs76351119^1,2		--	116747623(+)	`TGTCAC/TCTTGG`	1	--	int¹		1		NA	120
rs78486369^1,2	C,F,	--	116748340(+)	`AAGAAC/TGCCTA`	1	--	int¹		1		WA	118
rs56273492^1,2	C,F,	--	116749522(+)	`AACTAC/TGTCCG`	1	--	int¹		1		NA	120
rs74635093^1,2	F,	--	116749639(+)	`AGTATG/CTTCTG`	1	--	int¹		1		WA	118
rs118173130^1,2	C,F,	--	116749900(+)	`ATTCAG/TAAAAC`	1	--	int¹		1		NA	120
rs200677562^1,2	C	--	116750411(+)	`TGGGCG/TAAAAC`	1	--	int¹		0	--	--	--	--
rs34002054^1,2	C,	--	116750703(+)	`ACGAGA/GGAAGG`	1	--	int¹		3		MN WA NA	264
rs7804816^1,2	C,F,A,H,	--	116750945(+)	`CAGACT/CAGAGT`	1	--	int¹		19		MN NS EA NA WA	2244
rs73215950^1,2	C,	--	116750946(+)	`AGACTA/GGAGTC`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CTTNBP2 (117350705 - 117514193 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CTTNBP2
1 CNV: 100087
Human Gene Mutation Database (HGMD): CTTNBP2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CTTNBP2

DNA2.0 Custom Variant and Variant Library Synthesis for CTTNBP2

(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

CTTNBP2 for disorders           About GeneDecksing

OMIM gene information: 609772    OMIM disorders: --

4 diseases for CTTNBP2:    About MalaCards

cerebral cavernous malformations cavernous malformation cerebral cavernous malformations 3 cerebritis

Human Genome Epidemiology (HuGE) Navigator: CTTNBP2 (1 document)

Export disorders for CTTNBP2 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 CTTNBP2 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with CTTNBP2)

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

Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31. (PubMed id 11707066)^{1, 2, 3, 9} Cheung J....Scherer S.W. (2001)
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 DNA sequence of human chromosome 7. (PubMed id 12853948)^{1, 2} Hillier L.W.... Wilson R.K. (2003)
Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)^{1, 2} Nagase T.... Ohara O. (2000)
A PP2A Phosphatase High Density Interaction Network Identifies a Novel Striatin-interacting Phosphatase and Kinase Complex Linked to the Cerebral Cavernous Malformation 3 (CCM3) Protein. (PubMed id 18782753)^{1, 9} Goudreault M....Gingras A.C. (2009)
A cohesin-RAD21 interactome. (PubMed id 22145905)¹ Panigrahi A.K....Pati D. (2012)
System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)¹ Sowa M.E....Harper J.W. (2009)
An integrated workflow for charting the human interac tion proteome: insights into the PP2A system. (PubMed id 19156129)¹ Glatter T....Gstaiger M. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 83992	HGNC: 15679	AceView: CTTNBP2	Ensembl:ENSG00000077063	euGenes: HUgn83992
ECgene: CTTNBP2	H-InvDB: CTTNBP2

(According to HUGE)
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HUGE: KIAA1758

(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 CTTNBP2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CTTNBP2 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 CTTNBP2 gene:
Search GeneIP for patents involving CTTNBP2

GeneCards and IP:
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(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),
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CTTNBP2 Gene

cortactin binding protein 2

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CTTNBP2 Gene

cortactin binding protein 2

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