C1QTNF3
C1q and TNF related 3
Summary
Enables identical protein binding activity. Involved in several processes, including intracellular triglyceride homeostasis; negative regulation of non-canonical NF-kappaB signal transduction; and regulation of cytokine production. Acts upstream of or within negative regulation of gluconeogenesis. Located in extracellular exosome and membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs145720147 | 5:34,020,705 | G/C | — | uncertain significance |
| rs531887921 | 5:34,020,732 | G/A | — | uncertain significance |
| rs1359745760 | 5:34,024,051 | G/A | — | uncertain significance |
| rs763298981 | 5:34,028,907 | C/G | — | uncertain significance |
| rs755141201 | 5:34,028,910 | T/A | — | uncertain significance |
| rs745473321 | 5:34,028,947 | C/A | — | uncertain significance |
| rs140166139 | 5:34,035,771 | C/T | — | likely benign |
| rs142993560 | 5:34,035,772 | G/A | — | uncertain significance |
| rs562996217 | 5:34,035,829 | C/T | — | uncertain significance |
| rs113668504 | 5:34,042,975 | G/A | — | conflicting classifications of pathogenicity |
| rs1223216469 | 5:34,042,990 | G/A | — | uncertain significance |
| rs752992491 | 5:34,043,038 | T/G | — | uncertain significance |
| rs141837290 | 5:34,043,044 | G/A | — | uncertain significance |
| rs200960868 | 5:34,043,080 | C/T | — | uncertain significance |
| rs376644937 | 5:34,043,085 | C/T | — | uncertain significance |
| rs535921475 | 5:34,119,035 | A/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.