1. Gene
  2. NLRP6 - NLR family pyrin domain containing 6 Gene

NLRP6 - NLR family pyrin domain containing 6 Gene

Homo sapiens

Also known as AVR; NAVR; PAN3; NALP6; PYPAF5; CLR11.4; NAVR/AVR

Gene ID: 171389 | Gene type: protein coding

About NLRP6

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:278,407-285,388 (from NCBI)

This gene has 3 transcripts (splice variants), 67 orthologues and 20 paralogues. Biased expression in duodenum (RPKM 17.8), small intestine (RPKM 17.7) and 3 other tissues.

Summary

The protein encoded by this gene binds arginine-vasopressin and may be involved in the arginine-vasopressin-mediated regulation of renal salt-water balance. The encoded protein also mediates inflammatory responses in the colon to allow recovery from intestinal epithelial damage and protects against tumorigenesis and the development of colitis. Finally, this protein can increase activation of NF-kappa-B, activation of CASP1 through interaction with ASC, and cAMP accumulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]

NLRP6 Products(2)

mRNA Protein Name
NM_001276700.2 NP_001263629.1 NACHT, LRR and PYD domains-containing protein 6 isoform 2
NM_138329.2 NP_612202.2 NACHT, LRR and PYD domains-containing protein 6 isoform 1

NLRP6 Protein Structure

PYRIN

PYRIN: PAAD/DAPIN/Pyrin domain (19 - 99)

NACHT

NACHT: NACHT domain (197 - 365)

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  • 200
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  • 800
  • 892 a.a.
Protein Preferred Names Protein Names

NACHT, LRR and PYD domains-containing protein 6

NACHT, leucine rich repeat and PYD containing 6

Related Diseases

Diseases Alias
Chemical Colitis
Familial Cold Autoinflammatory Syndrome

Familial Cold Urticaria

Fcas

Familial Polymorphous Cold Eruption

Fcu

Cold Hypersensitivity

Cinca Syndrome

CINCA

Nomid

Cryopyrin-Associated Periodic Syndrome 3

Chronic Neurologic Cutaneous And Articular Syndrome

Multisystem Inflammatory Disease, Neonatal-Onset

Caps3

Chronic Infantile Neurological Cutaneous Articular Syndrome

Infantile-Onset Multisystem Inflammatory Disease

Iomid Syndrome

Neonatal-Onset Multisystem Inflammatory Disease

Nomid Syndrome

Prieur-Griscelli Syndrome

Neonatal Onset Multisystem Inflammatory Disease

Chronic Infantile Neurological, Cutaneous And Articular Syndrome

Iomid

Infantile Onset Multisystem Inflammatory Disease

Prieur Griscelli Syndrome

Chronic Infantile Neurological Cutaneous And Articular Syndrome

Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome

Chronic Infantile Neurologic Cutaneous And Articular Syndrome

Chronic Infantile Neurological, Cutaneous, And Articular Syndrome

Cryopyrin-Associated Periodic Syndromes

Salmonellosis

Salmonella Infections

Salmonella Infection

Colonic Benign Neoplasm

Colon Neoplasm

Colonic Mass

Colonic Tumor

Neoplasm Of Colon

Neoplasm Of The Colon

Colonic Neoplasms

Colon Cancer

Colon Carcinoma Nos

Colonic Cancer

Metastatic Colon Cancer Nos

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta NLRP6 VGNC VGNC:75234
Mus musculus NLRP6 MGD MGI:2141990
Rattus norvegicus NLRP6 RGD RGD:708549
Bos taurus NLRP6 VGNC VGNC:32119
Canis familiaris NLRP6 VGNC VGNC:43850
Felis catus NLRP6 VGNC VGNC:81969
Others NLRP6 NCBI