TRAIP Chromosome 3
TRAF interacting protein
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What This Gene Does
This gene encodes a protein that contains an N-terminal RING finger motif and a putative coiled-coil domain. A similar murine protein interacts with TNFR-associated factor 1 (TRAF1), TNFR-associated factor 2 (TRAF2), and cylindromatosis. The interaction with TRAF2 inhibits TRAF2-mediated nuclear factor kappa-B, subunit 1 activation that is required for cell activation and protection against apoptosis. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Ring finger proteins
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000183763
Associated Conditions (2)
Inborn genetic diseases
Seckel syndrome 9
Key Variants
RS143310707
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1473208611
Likely pathogenic
Health Risk
RS761742550
Likely pathogenic
Seckel syndrome 9, Seckel syndrome 9
Health Risk
RS1298999570
Pathogenic
Health Risk
RS200230407
Pathogenic
Health Risk
RS2081828234
Pathogenic
Health Risk
RS2544964555
Pathogenic
Health Risk
RS2544964696
Pathogenic
Health Risk
RS2544970858
Pathogenic
Health Risk
RS2544988908
Pathogenic
Health Risk
RS767664526
Pathogenic
Seckel syndrome 9, Seckel syndrome 9
Health Risk
RS864622784
Pathogenic
Seckel syndrome 9, Seckel syndrome 9
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143310707 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1473208611 | Health Risk | Likely pathogenic | — |
| RS761742550 | Health Risk | Likely pathogenic | Seckel syndrome 9, Seckel syndrome 9 |
| RS1298999570 | Health Risk | Pathogenic | — |
| RS200230407 | Health Risk | Pathogenic | — |
| RS2081828234 | Health Risk | Pathogenic | — |
| RS2544964555 | Health Risk | Pathogenic | — |
| RS2544964696 | Health Risk | Pathogenic | — |
| RS2544970858 | Health Risk | Pathogenic | — |
| RS2544988908 | Health Risk | Pathogenic | — |
| RS767664526 | Health Risk | Pathogenic | Seckel syndrome 9, Seckel syndrome 9 |
| RS864622784 | Health Risk | Pathogenic | Seckel syndrome 9, Seckel syndrome 9 |