NLRP7 - NLR family pyrin domain containing 7 Gene

Also Known as HYDM; PAN7; NALP7; NOD12; PYPAF3; CLR19.4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 199713

About NLRP7

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:54,923,509-54,947,505 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 18 orthologues, 20 paralogues and is associated with 3 phenotypes. Biased expression in testis (RPKM 2.5), lung (RPKM 0.4) and 7 other tissues.

Summary

This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

NLRP7 Products (4)

mRNA	Protein	Name
NM_001127255.2	NP_001120727.1	NACHT, LRR and PYD domains-containing protein 7 isoform 3
NM_001405531.1	NP_001392460.1	NACHT, LRR and PYD domains-containing protein 7 isoform 3
NM_139176.4	NP_631915.2	NACHT, LRR and PYD domains-containing protein 7 isoform 1
NM_206828.4	NP_996611.2	NACHT, LRR and PYD domains-containing protein 7 isoform 2

NLRP7 Protein Structure

PYRIN

NACHT

LRR_6

0
200
400
600
800
980 a.a.

Protein Preferred Names	Protein Names
NACHT, LRR and PYD domains-containing protein 7	NACHT, LRR and PYD containing protein 7

Related Diseases

Diseases	Alias
Hydatidiform Mole, Recurrent, 1	Hydatidiform Mole Gestational Trophoblastic Disease Complete Hydatidiform Mole Hydm HYDM1 Chm Molar Pregnancy Hydatidiform Mole, Complete Hydatid Mole Complete Molar Pregnancy Mole, Hydatidiform, Recurrent, Type 1 Gestational Trophoblastic Neoplasms Hydatidiform Mole, Recurrent, 2 Classical Hydatidiform Mole
Gestational Trophoblastic Neoplasm	Hydatidiform Mole Molar Pregnancy Gestational Trophoblastic Neoplasia Gestational Trophoblastic Tumor Gtn Gestational Trophoblastic Disease Gestational Trophoblastic Neoplasms Hydatidiform Mole, Recurrent, 1 Hydatidiform Mole Benign Trophoblastic Disease Trophoblastic Disease Nos Trophoblastic Disorder Vesicular Mole Nos Vesicular Mole Hydatidiform Mole Nos
Recurrent Hydatidiform Mole	Familial Recurrent Hydatidiform Mole Frhm Recurrent Androgenetic Hydatidiform Mole Recurrent Biparental Hydatidiform Mole Hydatidiform Mole, Recurrent Mole, Hydatidiform, Recurrent Recurrent Gestational Trophoblastic Tumor
Partial Hydatidiform Mole	Incomplete Hydatidiform Mole Incomplete Molar Pregnancy Partial Molar Pregnancy Hydatidiform Mole, Partial
Triploidy	Triploidy Syndrome Triploid Syndrome Chromosome Triploidy Syndrome Triploid
Seminoma	Seminoma, Pure
Trophoblastic Neoplasm	Trophoblastic Tumor Trophoblastic Neoplasms
Gestational Choriocarcinoma	Gestational Chorionepithelioma Molar Pregnancy With Choriocarcinoma
Loeys-Dietz Syndrome 1	Furlong Syndrome Loeys-Dietz Aortic Aneurysm Syndrome LDS1 Aat5 Loeys-Dietz Syndrome Type 1 Aortic Aneurysm, Familial Thoracic 5 Familial Throacic Aortic Aneurysm 5 Loeys-Dietz Syndrome Aortic Aneurysm Syndrome, Loeys-Dietz Type Familial Thoracic Aortic Aneurysm 5 Ldas Marfanoid Disorder-Craniosynostosis Syndrome Aneurysm, Aortic, Thoracic, Familial, Type 5 Loeys-Dietz Syndrome, Type 1 Loeys-Dietz Syndrome, Type 2a
Placental Site Trophoblastic Tumor	Trophoblastic Tumor Placental Site Trophoblastic Tumor, Placental Site Placental Site Trophoblastic Tumour Placental-Site Gestational Trophoblastic Neoplasm Placenta Neoplasm Psst Deciduoma Placental Cancer Primary Malignant Neoplasm Of Placenta
Epithelioid Trophoblastic Tumor	Trophoblastic Tumor, Epithelioid
Germ Cell And Embryonal Cancer	Germ Cell And Embryonal Neoplasm
Familial Cold Autoinflammatory Syndrome 1	Cold Hypersensitivity Cold-Induced Autoinflammatory Syndrome, Familial FCAS1 Fcas Fcu Cryopyrin-Associated Periodic Syndrome 1 Caps1 Familial Cold Urticaria Cold Urticaria, Familial Familial Cold Inflammatory Syndrome 1 Familial Cold-Induced Autoinflammatory Syndrome Autoinflammatory Syndrome, Cold, Familial, Type 1
Familial Cold Autoinflammatory Syndrome	Familial Cold Urticaria Fcas Familial Polymorphous Cold Eruption Fcu Cold Hypersensitivity
Transient Neonatal Diabetes Mellitus	Diabetes Mellitus, Transient Neonatal Tndm Chromosome 6-Associated Transient Diabetes Mellitus Dmtn Diabetes Mellitus, 6q24-Related Transient Neonatal Tndm1 Neonatal Diabetes Mellitus, Transient Tndm -[Transient Neonatal Diabetes Mellitus]
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
Kagami-Ogata Syndrome	Paternal Uniparental Disomy Of Chromosome 14 Uniparental Disomy, Paternal, Chromosome 14 Kos Mca Due To 14q32.2 Maternally Expressed Gene Defect Paternal Uniparental Disomy 14 Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion Maternal Del(14)(Q32.2) Maternal Monosomy 14q32.2 Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 Upd(14)Pat
Germ Cell Cancer	Malignant Germ Cell Tumor Neoplasms, Germ Cell And Embryonal Germ Cell Neoplasm Germ Cell Tumour Malignant Tumor Of The Germ Cell Neoplasms Germ Cell Malignant Germ Cell Neoplasm
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism Type 1b PHP1B Pseudohypoparathyroidism Ib Pseudohypoparathyroidism Type Ib Php Ib Pseudohypoparathyroidism 1b
Silver-Russell Syndrome 1	Silver-Russell Syndrome Russell-Silver Syndrome Silver-Russell Dwarfism Rss SRS1 Srs Silver Russell Dwarfism Russell Silver Syndrome Silver Russell Syndrome
Temple Syndrome	Uniparental Disomy, Maternal, Chromosome 14 Temple Syndrome Due To Paternal 14q32.2 Microdeletion Paternal Del(14)(Q32.2) Temple Syndrome Due To Paternal 14q32.2 Hypomethylation Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 Upd(14)Mat
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09363	NLRP7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	NLRP7	MGD	MGI:3041206
Macaca mulatta	NLRP7	VGNC	VGNC:75236
Others	NLRP7	NCBI