C2CD4C

C2 calcium dependent domain containing 4C, the group of C2 domain containing

Basic information

Region (hg38): 19:405445-409147

Previous symbols: [ "KIAA1957", "FAM148C" ]

Links

ENSG00000183186 ∙ NCBI:126567 ∙ OMIM:610336 ∙ HGNC:29417 ∙ Uniprot:Q8TF44 ∙ 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 C2CD4C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C2CD4C 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				1		1
missense			57	3		60
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	57	4	0

Variants in C2CD4C

This is a list of pathogenic ClinVar variants found in the C2CD4C region.

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

Position	Type	Phenotype	Significance	ClinVar
19-407206-G-A		not specified	Uncertain significance (Dec 27, 2022)
19-407230-C-G		not specified	Uncertain significance (Nov 07, 2024)
19-407230-C-T		not specified	Uncertain significance (Feb 10, 2025)
19-407259-C-T		not specified	Likely benign (Jul 26, 2023)
19-407270-C-A		not specified	Uncertain significance (Dec 14, 2024)
19-407328-C-T		not specified	Uncertain significance (Dec 13, 2023)
19-407344-G-A		not specified	Uncertain significance (Apr 18, 2023)
19-407346-G-A		not specified	Uncertain significance (Nov 10, 2021)
19-407347-C-A		not specified	Uncertain significance (Feb 07, 2023)
19-407374-C-T		not specified	Uncertain significance (Dec 09, 2023)
19-407376-G-A		not specified	Uncertain significance (Jan 25, 2023)
19-407378-G-A			Likely benign (Mar 01, 2023)
19-407388-T-C		not specified	Likely benign (May 31, 2023)
19-407401-G-A		not specified	Uncertain significance (Jul 26, 2024)
19-407416-C-G		not specified	Uncertain significance (Oct 25, 2024)
19-407433-C-T		not specified	Uncertain significance (Nov 24, 2024)
19-407434-G-A		not specified	Uncertain significance (Oct 21, 2024)
19-407437-C-G		not specified	Uncertain significance (Aug 21, 2024)
19-407446-G-A		not specified	Uncertain significance (Oct 20, 2024)
19-407472-C-T		not specified	Uncertain significance (Jan 29, 2024)
19-407475-C-G		not specified	Uncertain significance (Nov 10, 2024)
19-407485-C-A		not specified	Uncertain significance (Aug 12, 2024)
19-407487-G-A		not specified	Uncertain significance (Feb 19, 2025)
19-407508-G-A		not specified	Uncertain significance (Sep 16, 2021)
19-407527-G-A		not specified	Uncertain significance (Nov 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C2CD4C	protein_coding	protein_coding	ENST00000332235	1	3702

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.466	0.511	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.43	152	210	0.723	0.0000151	2621
Missense in Polyphen		41	72.474	0.56572		858
Synonymous	-0.724	110	101	1.09	0.00000753	956
Loss of Function	1.83	1	5.71	0.175	2.47e-7	84

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.107

Haploinsufficiency Scores

• pHI: 0.233
• ghis: 0.600

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: C2cd4c
• Phenotype: growth/size/body region phenotype

Gene ontology

• Cellular component: cytosol