TTYH2

tweety family member 2, the group of Tweety family

Basic information

Region (hg38): 17:74213571-74262020

Links

ENSG00000141540 ∙ NCBI:94015 ∙ OMIM:608855 ∙ HGNC:13877 ∙ Uniprot:Q9BSA4 ∙ 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 TTYH2 gene.

• not_specified (79 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTYH2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032646.6. 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				4		4
missense			75	3		78
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	75	7	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TTYH2	protein_coding	protein_coding	ENST00000269346	14	48503

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000993	0.999	125719	0	29	125748	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.356	311	329	0.945	0.0000192	3452
Missense in Polyphen		73	90.526	0.8064		1056
Synonymous	-0.152	155	153	1.02	0.0000106	1093
Loss of Function	3.02	12	29.8	0.402	0.00000138	309

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000354	0.000354
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000481	0.0000462
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.000109	0.000109
South Asian	0.0000991	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable large-conductance Ca(2+)-activated chloride channel. May play a role in Ca(2+) signal transduction. May be involved in cell proliferation and cell aggregation. {ECO:0000269|PubMed:15010458}.
• Pathway: Stimuli-sensing channels;Ion channel transport;Transport of small molecules (Consensus)

Recessive Scores

• pRec: 0.103

Intolerance Scores

• loftool: 0.517
• rvis_EVS: 0.83
• rvis_percentile_EVS: 88.09

Haploinsufficiency Scores

• pHI: 0.139
• hipred: Y
• hipred_score: 0.694
• ghis: 0.442

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.521

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ttyh2

Gene ontology

• Biological process: chloride transmembrane transport
• Cellular component: plasma membrane;chloride channel complex
• Molecular function: intracellular calcium activated chloride channel activity;protein binding;volume-sensitive chloride channel activity