C1QTNF12

C1q and TNF related 12, the group of C1q and TNF related

Basic information

Region (hg38): 1:1242446-1246722

Previous symbols: [ "C1QDC2", "FAM132A" ]

Links

ENSG00000184163 ∙ NCBI:388581 ∙ OMIM:616593 ∙ HGNC:32308 ∙ Uniprot:Q5T7M4 ∙ 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 C1QTNF12 gene.

• not_specified (91 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C1QTNF12 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001014980.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			2		1	3
missense			88	5	2	95
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2			2
Total	0	0	92	5	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C1QTNF12	protein_coding	protein_coding	ENST00000330388	8	4277

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.21e-8	0.142	124878	0	40	124918	0.000160

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.247	177	168	1.05	0.0000120	1845
Missense in Polyphen		59	60.468	0.97573		634
Synonymous	0.224	77	79.5	0.968	0.00000592	688
Loss of Function	-0.0295	11	10.9	1.01	4.63e-7	143

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000255	0.000253
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000214	0.000196
Middle Eastern	0.00	0.00
South Asian	0.000394	0.000359
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Insulin-sensitizing adipocyte-secreted protein (adipokine) that regulates glucose metabolism in liver and adipose tissue. Promotes glucose uptake in adipocytes and suppresses de novo glucose production in hepatocytes via the PI3K-Akt signaling pathway. Administration lead to reduction of blood glucose. Able to attenuate inflammation in fat tissue. {ECO:0000250|UniProtKB:Q8R2Z0}.

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.180
• ghis: 0.406

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: C1qtnf12

Gene ontology

• Biological process: regulation of signaling receptor activity;regulation of glucose metabolic process;positive regulation of insulin secretion involved in cellular response to glucose stimulus;negative regulation of gluconeogenesis;regulation of glucose import;positive regulation of glucose import;positive regulation of insulin receptor signaling pathway;negative regulation of inflammatory response;positive regulation of protein kinase B signaling
• Cellular component: extracellular region;extracellular space
• Molecular function: hormone activity