Gene

si:ch211-207e19.2

ID
ZDB-GENE-041210-227
Name
si:ch211-207e19.2
Symbol
si:ch211-207e19.2 Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 4 Mapping Details/Browsers
Description
Predicted to be located in cytoplasm. Human ortholog(s) of this gene implicated in CINCA Syndrome; Muckle-Wells syndrome; autosomal dominant nonsyndromic deafness 34; familial cold autoinflammatory syndrome (multiple); and urticaria. Orthologous to several human genes including NLRP12 (NLR family pyrin domain containing 12); NLRP13 (NLR family pyrin domain containing 13); and NLRP14 (NLR family pyrin domain containing 14).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With si:ch211-207e19.2 Human Ortholog
No data available
Associated With si:ch211-207e19.2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
1 - 5 of 14 Show all
Domain Details Per Protein
Protein Additional Resources 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 P-loop containing nucleoside triphosphate hydrolase SPRY-associated SPRY domain
UniProtKB:A0A8M6Z5L8 InterPro 970
1 - 1 of 1
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA si:ch211-207e19.2-205 (1) Ensembl 3,128 nt
mRNA si:ch211-207e19.2-206 (1) Ensembl 2,802 nt
1 - 2 of 2
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations