Gene

si:ch211-255g12.8

ID
ZDB-GENE-081104-39
Name
si:ch211-255g12.8
Symbol
si:ch211-255g12.8 Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 8 Mapping Details/Browsers
Description
Predicted to be involved in intracellular signal transduction. 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
sa7119Allele with one point mutationUnknownPremature StopENU
sa41114Allele 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:ch211-255g12.8 Human Ortholog
No data available
Associated With si:ch211-255g12.8 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:A0A8M9Q9X9 InterPro 984
UniProtKB:F6NI41 InterPro 934
UniProtKB:A0AB32TYZ6 InterPro 984
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 8
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA si:ch211-255g12.8-201 (1)
Ensembl
Ensembl 2,995 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 inBACCH211-255G12ZFIN Curated Data
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Sequences
Type Accession # Sequence Length (nt/aa) Analysis
RNARefSeq:XM_068223095 (1)3198 nt
ZFIN BLASTNCBI BLASTEnsemblUCSC BLAT
GenomicGenBank:AL954310 (1)156407 nt
MegaBLASTEnsembl
PolypeptideUniProtKB:A0A8M9Q9X9 (1)984 aa
ZFIN BLASTSIB BLASTEnsembl Protein Blast
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
No data available
Citations
TSV
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