CORO2B

protein-coding

coronin 2B, the group of WD repeat domain containing|Coronins

Gene summary

Enables talin binding activity and vinculin binding activity. Acts upstream of or within several processes, including negative regulation of cell-substrate adhesion; regulation of actin cytoskeleton organization; and regulation of establishment of protein localization. Located in focal adhesion. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_006091.5

Inheritance

—

ClinVar variants

U:57B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.28

Max pathogenic AF

—

Genomic locus

chr15:68,578,993-68,727,806

External References & Databases

Ensembl (ENSG00000103647)

Transcript & Mutation Effects

hg38 • Region Span ~148.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CORO2B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 56

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006091.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			56 clinvar	1 clinvar		57
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	57	3	0	60

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_006091.5	RefSeq	NP_006082.3	12	MANE Select
ENST00000261861.10	Ensembl	ENSP00000261861.6	12	MANE Select
NM_001190456.2	RefSeq	NP_001177385.1	11	Standard
NM_001190457.2	RefSeq	NP_001177386.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

actin cytoskeleton organization

Molecular Function

actin binding
protein binding
actin filament binding

Cellular Component

cytoplasm
actin cytoskeleton
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000566799
Coding exons: 12
Length: 148838
Individuals with no LoFs: 125734
Homozygous LoFs: 0
Heterozygous LoFs: 14
Defined: 125748
p: 0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.19	199	307	0.648	0.0000198	3141
Missense (PolyPhen)		59	118.81	0.4966		1146
Synonymous	0.660	119	129	0.926	0.00000869	931
Loss of Function	3.32	7	24.9	0.281	0.00000124	276

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0	0.0	absent
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000062	0.000062	rare
South Asian	0.000033	0.000033	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in the reorganization of neuronal actin structure.;

Recessive Scores

pRec: 0.110

Intolerance Scores

LoFtool: 0.549
RVIS EVS: -0.38
RVIS percentile EVS: 27.88

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: E
Indispensability score: 0.841

Gene Damage Prediction

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