Gene

si:ch211-181d7.1

ID

ZDB-GENE-121214-14

Name

si:ch211-181d7.1

Symbol

si:ch211-181d7.1 Nomenclature History

Previous Names

gene26712F (1)

Type

protein_coding_gene

Location

Chr: 15 Mapping Details/Browsers

Description

Human ortholog(s) of this gene implicated in several diseases, including CINCA Syndrome; Muckle-Wells syndrome; autosomal dominant nonsyndromic deafness 34; familial cold autoinflammatory syndrome (multiple); and gestational trophoblastic neoplasm. 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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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:ch211-181d7.1 Human Ortholog

No data available

Associated With si:ch211-181d7.1 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
Homologous_superfamily	IPR027417	P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily	IPR032675	Leucine-rich repeat domain superfamily
Repeat	IPR001611	Leucine-rich repeat

Domain Details Per Protein

Protein	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	P-loop containing nucleoside triphosphate hydrolase
UniProtKB:A0A8M9P7G6 InterPro	942
UniProtKB:A0A8M9PCK2 InterPro	941

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	si:ch211-181d7.1-201 (1) Ensembl	Ensembl		2,171 nt	Select Tool ZFIN BLAST
mRNA	si:ch211-181d7.1-202 (1) Ensembl	Ensembl		3,464 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance

Citations