Gene
si:ch211-236p5.3
- ID
- ZDB-GENE-081028-31
- Name
- si:ch211-236p5.3
- Symbol
- si:ch211-236p5.3 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to have ATP binding activity. Predicted to be involved in intracellular signal transduction. Human ortholog(s) of this gene implicated in several diseases, including CINCA Syndrome; Muckle-Wells syndrome; autosomal dominant nonsyndromic deafness 34; familial cold autoinflammatory syndrome (multiple); and gestational trophoblastic neoplasm. Orthologous to several human genes including NLRP13 (NLR family pyrin domain containing 13); NLRP14 (NLR family pyrin domain containing 14); and NLRP2 (NLR family pyrin domain containing 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Harjula et al., 2019
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001870 | B30.2/SPRY domain |
| Domain | IPR003877 | SPRY domain |
| Domain | IPR003879 | Butyrophylin-like, SPRY domain |
| Domain | IPR006574 | SPRY-associated |
| Domain | IPR007111 | NACHT nucleoside triphosphatase |
| Domain | IPR029495 | NACHT-associated domain |
| Domain | IPR041075 | NOD1/2, winged helix domain |
| Domain | IPR041267 | NACHT, LRR and PYD domains-containing protein, helical domain HD2 |
| Family | IPR051261 | NOD-like receptor (NLR) |
| Homologous_superfamily | IPR013320 | Concanavalin A-like lectin/glucanase domain superfamily |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR032675 | Leucine-rich repeat domain superfamily |
| Homologous_superfamily | IPR043136 | B30.2/SPRY domain superfamily |
| Repeat | IPR001611 | Leucine-rich repeat |
Domain Details Per Protein
| Protein | Length | B30.2/SPRY domain | B30.2/SPRY domain superfamily | Butyrophylin-like, SPRY domain | Concanavalin A-like lectin/glucanase domain superfamily | Leucine-rich repeat | Leucine-rich repeat domain superfamily | NACHT-associated domain | NACHT, LRR and PYD domains-containing protein, helical domain HD2 | NACHT nucleoside triphosphatase | NOD1/2, winged helix domain | NOD-like receptor (NLR) | P-loop containing nucleoside triphosphate hydrolase | SPRY-associated | SPRY domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:E7FD84
|
1020 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
si:ch211-236p5.3-201
(1)
|
Ensembl | 3,063 nt | ||
| mRNA |
si:ch211-236p5.3-202
(1)
|
Ensembl | 5,628 nt |
Interactions and Pathways
No data available
Plasmids
No data available