C1QTNF12
protein-codingC1q and TNF related 12, the group of C1q and TNF related
Gene summary
Predicted to enable hormone activity. Predicted to be involved in negative regulation of gluconeogenesis; positive regulation of D-glucose import across plasma membrane; and positive regulation of insulin receptor signaling pathway. Predicted to act upstream of or within negative regulation of inflammatory response; positive regulation of cell communication; and regulation of glucose metabolic process. Predicted to be located in extracellular region. Predicted to be active in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]
- C1QDC2
- FAM132A
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~4.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to C1QTNF12 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001014980.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 1 | 1 | 4 | ||
| missense | 90 | 5 | 2 | 97 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 94 | 6 | 3 | 103 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001014980.1 | 8 | MANE Select | |
| Ensembl | ENSP00000329137.2 | 8 | MANE Select | |
| Ensembl | ENSP00000755812.1 | 7 | Standard | |
| Ensembl | ENSP00000755813.1 | 8 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
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
Molecular Function
- hormone activity
Cellular Component
- extracellular region
- extracellular space
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000330388
- Coding exons
- 8
- Length
- 4277
- Individuals with no LoFs
- 124878
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 40
- Defined
- 124918
- p
- 0.000160
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.247 | 177 | 168 | 1.05 | 0.0000120 | 1845 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000064 | 0.000062 | rare |
| Latino/Admixed American | 0.00019 | 0.00017 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00021 | 0.00020 | rare |
| South Asian | 0.00039 | 0.00036 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- 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}.;
Essentials
- Essential (gene trap)
- N