Gene

si:ch73-24k9.2

ID
ZDB-GENE-121214-29
Name
si:ch73-24k9.2
Symbol
si:ch73-24k9.2 Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 19 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
Allele Type Localization Consequence Mutagen Supplier
sa31029Allele with one point mutationUnknownPremature StopENU
Zebrafish International Resource Center (ZIRC) (order this)
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Sequence Targeting Reagents
No data available
Human Disease
Associated With si:ch73-24k9.2 Human Ortholog
No data available
Associated With si:ch73-24k9.2 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 NOD1/2, winged helix domain
Domain IPR041267 NACHT, LRR and PYD domains-containing protein, helical domain HD2
Family IPR051261 NOD-like receptor
1 - 5 of 8 Show all
Domain Details Per Protein
Protein Additional Resources Length 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
UniProtKB:A0A8M6YU37 InterPro 978
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 19
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA si:ch73-24k9.2-201 (1)
Ensembl
Ensembl 3,483 nt
ZFIN BLAST
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH73-24K9ZFIN Curated Data
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Sequences
Type Accession # Sequence Length (nt/aa) Analysis
RNARefSeq:XM_017352412 (1)
ZFIN BLASTNCBI BLASTMegaBLASTEnsemblUCSC BLAT
GenomicGenBank:CU928191 (1)44765 nt
MegaBLASTEnsembl
PolypeptideUniProtKB:A0A8M6YU37 (1)978 aa
ZFIN BLASTSIB BLASTEnsembl Protein Blast
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
No data available
Citations
TSV
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Your Input Welcome
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