TWF2

twinfilin actin binding protein 2

Basic information

Region (hg38): 3:52228612-52246788

Previous symbols: [ "PTK9L" ]

Links

ENSG00000247596 ∙ NCBI:11344 ∙ OMIM:607433 ∙ HGNC:9621 ∙ Uniprot:Q6IBS0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TWF2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TWF2 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			4			4
Total	0	0	18	0	0

Variants in TWF2

This is a list of pathogenic ClinVar variants found in the TWF2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-52229038-C-A		not specified	Uncertain significance (Jan 18, 2023)
3-52229129-A-T		not specified	Uncertain significance (Sep 29, 2022)
3-52229163-G-C		not specified	Uncertain significance (Feb 06, 2023)
3-52229669-C-T		not specified	Uncertain significance (May 31, 2022)
3-52229988-C-T		not specified	Uncertain significance (Aug 08, 2023)
3-52230055-G-A		not specified	Uncertain significance (Mar 31, 2022)
3-52231176-G-A		not specified	Uncertain significance (Jun 18, 2021)
3-52231194-G-A		not specified	Uncertain significance (Feb 09, 2023)
3-52231473-T-C		not specified	Uncertain significance (Jul 09, 2021)
3-52231481-C-G		not specified	Uncertain significance (Jun 27, 2022)
3-52232011-C-A		not specified	Uncertain significance (Oct 26, 2022)
3-52232014-T-C		not specified	Uncertain significance (Jun 02, 2024)
3-52232083-C-T		not specified	Uncertain significance (Jun 27, 2022)
3-52232084-G-C		not specified	Uncertain significance (Jul 09, 2021)
3-52232098-T-G		not specified	Uncertain significance (Mar 21, 2022)
3-52245837-T-C		not specified	Uncertain significance (Jul 19, 2022)
3-52245921-C-G		not specified	Uncertain significance (Apr 09, 2024)
3-52245990-C-G		not specified	Uncertain significance (Sep 01, 2021)
3-52246011-C-G		not specified	Uncertain significance (Jan 23, 2024)
3-52246026-C-T		not specified	Uncertain significance (Jan 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TWF2	protein_coding	protein_coding	ENST00000305533	9	10651

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.981	0.0195	125717	0	3	125720	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.08	182	228	0.799	0.0000150	2270
Missense in Polyphen		64	88.288	0.7249		930
Synonymous	0.722	89	98.1	0.907	0.00000687	680
Loss of Function	3.83	2	20.9	0.0959	0.00000116	214

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000178	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Actin-binding protein involved in motile and morphological processes. Inhibits actin polymerization, likely by sequestering G-actin. By capping the barbed ends of filaments, it also regulates motility. Seems to play an important role in clathrin-mediated endocytosis and distribution of endocytic organelles. May play a role in regulating the mature length of the middle and short rows of stereocilia (By similarity). {ECO:0000250}.

Intolerance Scores

• loftool: 0.192
• rvis_EVS: -0.8
• rvis_percentile_EVS: 12.24

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.654
• ghis: 0.573

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.764

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Twf2
• Phenotype: normal phenotype

Gene ontology

• Biological process: regulation of lamellipodium assembly;positive regulation of lamellipodium assembly;positive regulation of neuron projection development;cell projection organization;actin filament depolymerization;negative regulation of actin filament polymerization;regulation of microvillus length;regulation of actin cytoskeleton organization;sequestering of actin monomers;positive regulation of axon extension;barbed-end actin filament capping;cellular response to retinoic acid;cellular response to growth factor stimulus
• Cellular component: cytoplasm;actin filament;myofibril;lamellipodium;filopodium;growth cone;stereocilium;perinuclear region of cytoplasm;extracellular exosome
• Molecular function: RNA binding;actin monomer binding;protein kinase C binding;protein binding;ATP binding;phosphatidylinositol-4,5-bisphosphate binding;cadherin binding;actin filament binding