Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	83992
Gene name Gene Name - the full gene name approved by the HGNC.	Cortactin binding protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CTTNBP2
Synonyms (NCBI Gene) Gene synonyms aliases	C7orf8, CORTBP2, Orf4
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q31.31
Summary Summary of gene provided in NCBI Entrez Gene.	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]

Show/Hide all(29)

miRTarBase ID	miRNA	Experiments
MIRT916148	hsa-miR-219-2-3p	CLIP-seq
MIRT916149	hsa-miR-2964a-3p	CLIP-seq
MIRT916150	hsa-miR-4680-3p	CLIP-seq
MIRT1971663	hsa-miR-129-5p	CLIP-seq
MIRT2207368	hsa-miR-1299	CLIP-seq
MIRT2207369	hsa-miR-137	CLIP-seq
MIRT2207370	hsa-miR-2355-5p	CLIP-seq
MIRT2207371	hsa-miR-3143	CLIP-seq
MIRT2207372	hsa-miR-3189-5p	CLIP-seq
MIRT2207373	hsa-miR-3607-3p	CLIP-seq
MIRT2207374	hsa-miR-3686	CLIP-seq
MIRT2207375	hsa-miR-378	CLIP-seq
MIRT2207376	hsa-miR-378b	CLIP-seq
MIRT2207377	hsa-miR-378c	CLIP-seq
MIRT2207378	hsa-miR-378d	CLIP-seq
MIRT2207379	hsa-miR-378e	CLIP-seq
MIRT2207380	hsa-miR-378f	CLIP-seq
MIRT2207381	hsa-miR-378h	CLIP-seq
MIRT2207382	hsa-miR-378i	CLIP-seq
MIRT2207383	hsa-miR-422a	CLIP-seq
MIRT2207384	hsa-miR-4638-3p	CLIP-seq
MIRT2207385	hsa-miR-4758-3p	CLIP-seq
MIRT2207386	hsa-miR-4775	CLIP-seq
MIRT2207387	hsa-miR-4782-5p	CLIP-seq
MIRT2207388	hsa-miR-516b	CLIP-seq
MIRT2207389	hsa-miR-543	CLIP-seq
MIRT2207390	hsa-miR-554	CLIP-seq
MIRT2207391	hsa-miR-590-3p	CLIP-seq
MIRT2207392	hsa-miR-802	CLIP-seq

Show/Hide all(9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005938	Component	Cell cortex	IEA
GO:0007420	Process	Brain development	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0098871	Component	Postsynaptic actin cytoskeleton	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1905274	Process	Regulation of modification of postsynaptic actin cytoskeleton	IEA

MIM	HGNC	e!Ensembl
609772	15679	ENSG00000077063

Protein

UniProt ID

Q8WZ74

Protein name

Cortactin-binding protein 2 (CortBP2)

Protein function

Regulates the dendritic spine distribution of CTTN/cortactin in hippocampal neurons, and thus controls dendritic spinogenesis and dendritic spine maintenance. Associates with the striatin-interacting phosphatase and kinase (STRIPAK) core complex

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09727	CortBP2	32 → 139	Cortactin-binding protein-2	Family
PF12796	Ank_2	714 → 807	Ankyrin repeats (3 copies)	Repeat
PF13637	Ank_4	755 → 797		Repeat

Tissue specificity

TISSUE SPECIFICITY: Highest expression in brain. Also expressed in kidney, pancreas, lung, heart, liver, skeletal muscle and placenta. {ECO:0000269|PubMed:11707066}.

Sequence

MATDGASCEPDLSRAPEDAAGAAAEAAKKEFDVDTLSKSELRMLLSVMEGELEARDLVIE
ALRARRKEVFIQERYGRFNLNDPFLALQRDYEAGAGDKEKKPVCTNPLSILEAVMAHCKK
MQERMSAQLAAAESRQKKLEMEKLQLQALEQEHKKLAARLEEERGKNKQVVLMLVKECKQ
LSGKVIEEAQKLEDVMAKLEEEKKKTNELEEELSAEKRRSTEMEAQMEKQLSEFDTEREQ
LRAKLNREEAHTTDLKEEIDKMRKMIEQLKRGSDSKPSLSLPRKTKDRRLVSISVGTEGT
VTRSVACQTDLVTENADHMKKLPLTMPVKPSTGSPLVSANAKGSVCTSATMARPGIDRQA
SYGDLIGASVPAFPPPSANKIEENGPSTGSTPDPTSSTPPLPSNAAPPTAQTPGIAPQNS
QAPPMHSLHSPCANTSLHPGLNPRIQAARFRFQGNANDPDQNGNTTQSPPSRDVSPTSRD
NLVAKQLARNTVTQALSRFTSPQAGAPSRPGVPPTGDVGTHPPVGRTSLKTHGVARVDRG
NPPPIPPKKPGLSQTPSPPHPQLKVIIDSSRASNTGAKVDNKTVASTPSSLPQGNRVINE
ENLPKSSSPQLPPKPSIDLTVAPAGCAVSALATSQVGAWPAATPGLNQPACSDSSLVIPT
TIAFCSSINPVSASSCRPGASDSLLVTASGWSPSLTPLLMSGGPAPLAGRPTLLQQAAAQ
GNVTLLSMLLNEEGLDINYSCEDGHSALYSAAKNGHTDCVRLLLSAEAQVNAADKNGFTP
LCAAAAQGHFECVELLISYDANINHAADGGQTPLYLACKNGNKECIKLLLEAGTNRSVKT
TDGWTPVHAAVDTGNVDSLKLLMYHRIPAHGNSFNEEESESSVFDLDGGEESPEGISKPV
VPADLINHANREGWTAAHIAASKGFKNCLEILCRHGGLEPERRDKCNRTVHDVATDDCKH
LLENLNALKIPLRISVGEIEPSNYGSDDLECENTICALNIRKQTSWDDFSKAVSQALTNH
FQAISSDGWWSLEDVTCNNTTDSNIGLSARSIRSITLGNVPWSVGQSFAQSPWDFMRKNK
AEHITVLLSGPQEGCLSSVTYASMIPLQMMQNYLRLVEQYHNVIFHGPEGSLQDYIVHQL
ALCLKHRQMAAGFSCEIVRAEVDAGFSKEQLLDLFISSACLIPVKQSPSKKKIIIILENL
EKSSLSELLRDFLAPLENRSTESPCTFQKGNGLSECYYFHENCFLMGTIAKACLQGSDLL
VQQHFRWVQLRWDGEPMQGLLQRFLRRKVVNKFKGQAPSPCDPVCKIVDWALSVWRQLNS
CLARLGTPEALLGPKYFLSCPVVPGHAQVTVKWMSKLWNGVIAPRVQEAILSRASVKRQP
GFGQTTAKRHPSQGQQAVVKAALSILLNKAVLHGCPLPRAELDQHTADFKGGSFPLSIVS
SYNTCNKKKGESGAWRKVNTSPRRKSGRFSLPTWNKPDLSTEGMKNKTISQLNCNRNASL
SKQKSLENDLSLTLNLDQRLSLGSDDEADLVKELQSMCSSKSESDISKIADSRDDLRMFD
SSGNNPVLSATINNLRMPVSQKEVSPLSSHQTTECSNSKSKTELGVSRVKSFLPVPRSKV
TQCSQNTKRSSSSSNTRQIEINNNSKEVNWNLHKNEHLEKPNK

Sequence length

1663

Interactions

View interactions

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Arthritis	Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	24709693
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728 View all (51 more)	28191889
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)	30054458

Show/Hide Unknown Diseases (9)

Disease term	Disease name	Evidence	References	Source
Unknown
Mental depression	Major Depressive Disorder		30718901	ClinVar
Autism Spectrum Disorder	autism spectrum disorder			GenCC
Neuroticism	Neuroticism			GWAS
Diabetes	Diabetes			GWAS
Glaucoma	Glaucoma			GWAS
Myocardial Infarction	Myocardial Infarction			GWAS
Mental Depression	Mental Depression			GWAS
Insomnia	Insomnia			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining
Carcinoma Hepatocellular	Associate	27035822
Cystic Fibrosis	Associate	31199594
Glioma	Associate	18492260
Lymphoma Non Hodgkin	Stimulate	27035822
Neuroblastoma	Associate	29042551
Obsessive Compulsive Disorder	Stimulate	29042551
Prostate Cancer Hereditary 7	Associate	25131421

CTTNBP2 (cortactin binding protein 2)