CTTNBP2

cortactin binding protein 2, the group of Ankyrin repeat domain containing|STRIPAK complex

Basic information

Region (hg38): 7:117710651-117874139

Previous symbols: [ "CORTBP2", "C7orf8" ]

Links

ENSG00000077063 ∙ NCBI:83992 ∙ OMIM:609772 ∙ HGNC:15679 ∙ Uniprot:Q8WZ74 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• autism spectrum disorder (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CTTNBP2 gene.

• not_specified (106 variants)
• CTTNBP2-related_disorder (31 variants)
• not_provided (8 variants)
• Prostate_cancer (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CTTNBP2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000033427.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				10	2	12
missense			112	9	4	125
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	113	19	6

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CTTNBP2	protein_coding	protein_coding	ENST00000160373	23	163489

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.72e-11	1.00	125639	0	109	125748	0.000434

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.651	833	888	0.939	0.0000473	10864
Missense in Polyphen		240	278.7	0.86113		3488
Synonymous	0.117	336	339	0.992	0.0000193	3328
Loss of Function	4.23	30	67.6	0.444	0.00000333	866

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00124	0.00124
Ashkenazi Jewish	0.000211	0.000198
East Asian	0.00149	0.00147
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000292	0.000290
Middle Eastern	0.00149	0.00147
South Asian	0.000459	0.000457
Other	0.000492	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulates the dendritic spine distribution of CTTN/cortactin in hippocampal neurons, thus controls dendritic spinogenesis and dendritic spine maintenance. {ECO:0000250}.

Recessive Scores

• pRec: 0.124

Intolerance Scores

• rvis_EVS: -1.45
• rvis_percentile_EVS: 3.9

Haploinsufficiency Scores

• pHI: 0.155
• hipred: Y
• hipred_score: 0.663
• ghis: 0.537

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.622

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Cttnbp2
• Phenotype: skeleton phenotype

Gene ontology

• Biological process: brain development;regulation of modification of postsynaptic actin cytoskeleton
• Cellular component: cell cortex;synaptic vesicle;dendritic spine;postsynaptic actin cytoskeleton;glutamatergic synapse
• Molecular function: SH3 domain binding