Gene

zmp:0000001020

ID
ZDB-GENE-130530-1023
Name
zmp:0000001020
Symbol
zmp:0000001020 Nomenclature History
Previous Names
  • Gene12839 (1)
Type
protein_coding_gene
Location
Chr: 4 Mapping Details/Browsers
Description
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
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 zmp:0000001020 Human Ortholog
No data available
Associated With zmp:0000001020 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
Domain Details Per Protein
Protein Length 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:E7FDK1 1002
UniProtKB:A0A2R8QPX0 669
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Citations