TRPC4AP

transient receptor potential cation channel subfamily C member 4 associated protein, the group of Protein phosphatase 1 regulatory subunits|Armadillo like helical domain containing

Basic information

Region (hg38): 20:35002404-35092807

Previous symbols: [ "C20orf188" ]

Links

ENSG00000100991

∙ NCBI:26133 ∙ OMIM:608430 ∙ HGNC:16181 ∙ Uniprot:Q8TEL6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

hypothyroidism (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TRPC4AP gene.

not_specified (80 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRPC4AP gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015638.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			80 clinvar			80
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	80	2	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRPC4AP	protein_coding	protein_coding	ENST00000252015	19	90468

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.552	0.448	125725	0	23	125748	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.22	368	440	0.836	0.0000244	5226
Missense in Polyphen		91	156.42	0.58176		1941
Synonymous	0.271	170	175	0.974	0.00000937	1557
Loss of Function	4.94	10	46.2	0.216	0.00000274	485

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000327	0.000327
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000164	0.000163
Finnish	0.000185	0.000185
European (Non-Finnish)	0.0000440	0.0000439
Middle Eastern	0.000164	0.000163
South Asian	0.00	0.00
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Substrate-specific adapter of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex required for cell cycle control. The DCX(TRUSS) complex specifically mediates the polyubiquitination and subsequent degradation of MYC. Also participates in the activation of NFKB1 in response to ligation of TNFRSF1A, possibly by linking TNFRSF1A to the IKK signalosome. Involved in JNK activation via its interaction with TRAF2. Also involved in elevation of endoplasmic reticulum Ca(2+) storage reduction in response to CHRM1. {ECO:0000269|PubMed:20551172}.;
Pathway: Stimuli-sensing channels;Ion channel transport;Transport of small molecules;TRP channels;TNFalpha (Consensus)

Recessive Scores

pRec: 0.116

Intolerance Scores

loftool: 0.0526
rvis_EVS: -1.26
rvis_percentile_EVS: 5.26

Haploinsufficiency Scores

pHI: 0.450
hipred: Y
hipred_score: 0.775
ghis: 0.582

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.870

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Trpc4ap
Phenotype

Gene ontology

Biological process: ubiquitin-dependent protein catabolic process;protein ubiquitination;hair follicle maturation;calcium ion transmembrane transport
Cellular component: plasma membrane;Cul4A-RING E3 ubiquitin ligase complex
Molecular function: calcium channel activity;protein binding;phosphatase binding