NLRP7 - NLR family pyrin domain containing 7 Gene

Homo sapiens

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

Gene ID: 199713 | Gene type: protein coding

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

Bioactive Molecules (1)

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

Orthologs Information

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

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