Gene

si:ch211-149a19.3

ID
ZDB-GENE-081104-128
Name
si:ch211-149a19.3
Symbol
si:ch211-149a19.3 Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 19 Mapping Details/Browsers
Description
Human ortholog(s) of this gene implicated in familial cold autoinflammatory syndrome 2. Orthologous to human NLRP12 (NLR family pyrin domain containing 12).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from Wu et al., 2018
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:ch211-149a19.3 Human Ortholog
No data available
Associated With si:ch211-149a19.3 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR007111 NACHT nucleoside triphosphatase
Domain IPR029495 NACHT-associated domain
Domain IPR041075 NOD2, winged helix domain
Domain IPR041267 NACHT, LRR and PYD domains-containing protein, helical domain HD2
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily IPR032675 Leucine-rich repeat domain superfamily
Repeat IPR001611 Leucine-rich repeat
Repeat IPR006553 Leucine-rich repeat, cysteine-containing subtype
Domain Details Per Protein
Protein Length Leucine-rich repeat Leucine-rich repeat, cysteine-containing subtype Leucine-rich repeat domain superfamily NACHT-associated domain NACHT, LRR and PYD domains-containing protein, helical domain HD2 NACHT nucleoside triphosphatase NOD2, winged helix domain P-loop containing nucleoside triphosphate hydrolase
UniProtKB:A0A2R8QG99 831
UniProtKB:A0A2R8QUT6 773
UniProtKB:F1QWJ3 680
UniProtKB:A0A2R8QT79 830
UniProtKB:F1QLU1 1375
Transcripts
Genome Browsers
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