1. Gene
  2. NLRP12 - NLR family pyrin domain containing 12 Gene

NLRP12 - NLR family pyrin domain containing 12 Gene

中文名称:含 NLR 家族 pyrin 结构域 12

种属: Homo sapiens

同用名: RNO; PAN6; RNO2; FCAS2; NALP12; PYPAF7; CLR19.3

基因 ID: 91662 | 基因类型: protein coding

关于 NLRP12

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:53,793,584-53,824,403 (from NCBI)

This gene has 6 transcripts (splice variants), 162 orthologues, 20 paralogues and is associated with 2 phenotypes. Biased expression in bone marrow (RPKM 2.2), appendix (RPKM 1.2) and 7 other tissues.

功能概要

该基因编码 CATERPILLER 细胞质蛋白家族的成员。编码的蛋白质包含一个 N 末端吡啶结构域、一个 NACHT 结构域、一个 NACHT 相关结构域和一个 C 末端富含亮氨酸的重复区域,通过抑制活化的单核细胞中的炎症反应,起到炎症减弱因子的作用。该基因的突变会导致 2 型家族性感冒自身炎症综合征。选择性剪接会导致多种转录本变异。[RefSeq 提供,2013 年 3 月]

This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

NLRP12 基因产物(3)

mRNA Protein Name
NM_001277126.2 NP_001264055.1 NACHT, LRR and PYD domains-containing protein 12 isoform 3
NM_001277129.1 NP_001264058.1 NACHT, LRR and PYD domains-containing protein 12 isoform 4
NM_144687.4 NP_653288.1 NACHT, LRR and PYD domains-containing protein 12 isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
12019269 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of NF-kappaB transcription factor activity IDA
IDA: 通过直接分析推断
18230725 GOA
involved in negative regulation of Toll signaling pathway IDA
IDA: 通过直接分析推断
16203735 GOA
involved in negative regulation of canonical NF-kappaB signal transduction IDA
IDA: 通过直接分析推断
16203735 GOA
involved in negative regulation of cytokine production IDA
IDA: 通过直接分析推断
16203735 GOA
involved in negative regulation of inflammatory response IMP
IMP: 通过突变表型推断
18230725 GOA
involved in negative regulation of interleukin-1 production IDA
IDA: 通过直接分析推断
16203735 GOA
involved in negative regulation of interleukin-6 production IDA
IDA: 通过直接分析推断
16203735 GOA
involved in negative regulation of non-canonical NF-kappaB signal transduction IDA
IDA: 通过直接分析推断
17237370 GOA
involved in negative regulation of protein autophosphorylation IDA
IDA: 通过直接分析推断
16203735 GOA
involved in negative regulation of signal transduction IDA
IDA: 通过直接分析推断
16203735 GOA
acts upstream of or within positive regulation of MHC class I biosynthetic process IDA
IDA: 通过直接分析推断
12759408 GOA
involved in positive regulation of non-canonical NF-kappaB signal transduction IDA
IDA: 通过直接分析推断
12019269 GOA
acts upstream of or within regulation of canonical NF-kappaB signal transduction IDA
IDA: 通过直接分析推断
12019269 GOA
acts upstream of or within regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
IDA: 通过直接分析推断
12019269 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
12019269 GOA
NOT located in nucleus IDA
IDA: 通过直接分析推断
12019269 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

NLRP12 蛋白结构

PYRIN

PYRIN: PAAD/DAPIN/Pyrin domain (12 - 91)

FISNA

FISNA: Fish-specific NACHT associated domain (128 - 201)

NACHT

NACHT: NACHT domain (211 - 381)

LRR_6

LRR_6: Leucine Rich repeat (712 - 735)

LRR_6

LRR_6: Leucine Rich repeat (769 - 792)

LRR_6

LRR_6: Leucine Rich repeat (826 - 849)

LRR_6

LRR_6: Leucine Rich repeat (883 - 905)

LRR_6

LRR_6: Leucine Rich repeat (940 - 958)

LRR_6

LRR_6: Leucine Rich repeat (997 - 1020)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1061 a.a.
蛋白主名 其他名称

NACHT, LRR and PYD domains-containing protein 12

PYRIN-containing APAF1-like protein 7

NLRP12 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属间
NLRP12 P59046 P0DTD1-PRO_0000449623 SARS-CoV-2 P0DTD1-PRO_0000449623
Protease Assay
33372854
种属内
NLRP12 P59046 HCK Homo sapiens P08631
Y2H
32226298
种属内
NLRP12 P59046 HCK Homo sapiens P08631
Anti Bait CoIP
32226298
种属内
NLRP12 P59046 TRAF3IP3 Homo sapiens Q9Y228
Y2H
32226298
种属内
NLRP12 P59046 TRAF3IP3 Homo sapiens Q9Y228
Anti Bait CoIP
32226298
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Familial Cold Autoinflammatory Syndrome 2

FCAS2

Nlrp12-Associated Hereditary Periodic Fever Syndrome

Familial Cold Autoinflammatory Syndrome Type 2

Familial Cold-Induced Autoinflammatory Syndrome Type 2

Naps12

Familial Cold Autoinflammatory Syndrome 2, Susceptibility To

Autoinflammatory Syndrome, Cold, Familial, Type 2

Familial Cold Autoinflammatory Syndrome

Familial Cold Urticaria

Fcas

Familial Polymorphous Cold Eruption

Fcu

Cold Hypersensitivity

Autoinflammatory Syndrome
Childhood-Onset Schizophrenia

Childhood Schizophrenia

Schizophrenia, Childhood

Multisystem Inflammatory Syndrome In Children

Mis-C

Multisystem Inflammatory Disorder In Children And Adolescents

Paediatric Inflammatory Multisystemic Syndrome

Mic

Night Blindness, Congenital Stationary, Type 1e

CSNB1E

Congenital Stationary Night Blindness 1e

Csnb, Complete, Autosomal Recessive

Night Blindness, Congenital Stationary , 1e, Autosomal Recessive

Congenital Stationary Night Blindness 1e Autosomal Recessive

Night Blindness, Congenital Stationary, 1e

Complete Autosomal Recessive Csnb

Csnb1

Night Blindness, Congenital Stationary, Type 1

Blindness, Night, Stationary, Congenital, Type 1e

X-Linked Congenital Stationary Night Blindness

X-Linked Csnb

Congenital Stationary Night Blindness With Myopia

Hemeralopia-Myopia

Myopia-Night Blindness

Xlcsnb

Night Blindness, Congenital Stationary, Type 2a

Night Blindness, Congenital Stationary, Type 1a

Familial Cold Autoinflammatory Syndrome 4

FCAS4

Nlrc4-Related Familial Cold Autoinflammatory Syndrome

Nlrc4-Related Familial Cold Urticaria

Autoinflammatory, Cold, Familial, Syndrome, Type 4

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary

Congenital Essential Nyctalopia

Oguchi Disease

Blindness, Night, Stationary, Congenital

Familial Cold Autoinflammatory Syndrome 3

Plaid

Familial Atypical Cold Urticaria

Facu

FCAS3

Antibody Deficiency And Immune Dysregulation, Plcg2-Associated

Plcg2-Associated Antibody Deficiency And Immune Dysregulation

Familial Cold Urticaria With Common Variable Immunodeficiency

Plcg2 Associated Antibody Deficiency And Immune Dysregulation

Antibody Deficiency And Immune Dysregulation Placg2-Associated

Autoinflammatory Syndrome, Cold, Familial, Type 3

Mevalonic Aciduria

Mevalonate Kinase Deficiency

Mevalonicaciduria

Hyperimmunoglobulin D With Periodic Fever

MEVA

Complete Mevalonate Kinase Deficiency

Mva

Hyperimmunoglobulinemia D

Hyper Igd Syndrome

Periodic Fever, Dutch Type

Mkd

Aciduria, Mevalonic

Deficiency Of Mevalonate Kinase

Periodic Fever, Familial, Autosomal Dominant

Familial Hibernian Fever

Tumor Necrosis Factor Receptor-Associated Periodic Syndrome

Traps

FPF

Tnf Receptor-Associated Periodic Fever Syndrome

Hibernian Fever, Familial

Fhf

Tnf Receptor-Associated Periodic Syndrome

Autosomal Dominant Familial Periodic Fever

Periodic Fever, Familial

Tnf Receptor 1-Associated Periodic Syndrome

Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome

Familial Periodic Fever

Traps Syndrome

Tnf Receptor Associated Periodic Syndrome

Caledonian Fever

Fever, Periodic, Familial

Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome

Conjunctivitis

Madras Eye

Adenoviral Conjunctivitis

Acute Adenoviral Follicular Conjunctivitis

Inclusion Conjunctivitis Of The Adult

Swimming-Pool Conjunctivitis

Inflammation Of Conjunctiva

Ophthalmia

Acute Conjunctivitis

Eye Catarrh

Catarrhal Ophthalmia

Koch-Weeks Conjunctivitis

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

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne

Papa Syndrome

Fra

Familial Recurrent Arthritis

Pyogenic Arthritis, Pyoderma Gangrenosum And Acne

PAPAS

Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome

Pyogenic Arthritis, Pyoderma Gangrenosum, And Severe Cystic Acne

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum And Acne

Muckle-Wells Syndrome

MWS

Urticaria-Deafness-Amyloidosis Syndrome

Uda Syndrome

Neutrophilic Urticaria

Urticaria, Deafness And Amyloidosis

Cryopyrin-Associated Periodic Syndrome 2

Caps2

Muckle Wells Syndrome

Urticaria-Deafness-Amyloidosis

Cryopyrin-Associated Periodic Syndromes

Gastroenteritis

Cholera Morbus

Infectious Colitis, Enteritis And Gastroenteritis

Enteritis Due To Astrovirus

Rotaviral Gastroenteritis

Viral Gastroenteritis Due To Rotavirus

Schnitzler Syndrome

Chronic Urticaria With Gammopathy

Chronic Urticaria With Macroglobulinemia

Chronic Urticaria With Gammapathy

Blau Syndrome

Arthrocutaneouveal Granulomatosis

Jabs Syndrome

BLAUS

Sarcoidosis, Early-Onset

Acug

Granulomatous Inflammatory Arthritis, Dermatitis, And Uveitis, Familial

Eos

Granulomatosis, Familial Juvenile Systemic

Granulomatosis, Familial, Blau Type

Familial Juvenile Systemic Granulomatosis

Early Onset Sarcoidosis

Synovitis Granulomatous With Uveitis And Cranial Neuropathies

Early-Onset Sarcoidosis

Familial Granulomatosis, Blau Type

Pediatric Granulomatous Arthritis

Familial Granulomatosis Blau Type

Familial Granulomatous Inflammatory Arthritis Dermatitis And Uveitis

Synovitis, Granulomatous, With Uveitis And Cranial Neuropathies

Erysipeloid

Infection Due To Erysipelothrix Rhusiopathiae

Erysipelothrix Infection

Common Variable Immunodeficiency

Cvid

Common Variable Agammaglobulinemia

Common Variable Immune Deficiency

Acquired Hypogammaglobulinemia

Hypogamma-Globulinemia, Acquired

Idiopathic Immunoglobulin Deficiency

Primary Antibody Deficiency

Primary Hypogammaglobulinemia

Acquired Agammaglobulinemia

Sporadic Hypogammaglobulinemia

Common Variable Hypogamma-Globulinemia

Immunoglobulin Deficiency, Late-Onset

Common Variable Hypogammaglobulinemia

Immunodeficiency, Common Variable

Syphilis

Chancre

Syphilitic Chancre

Familial Behcet-Like Autoinflammatory Syndrome

Autoinflammatory Syndrome, Familial, Behcet-Like

A20 Haploinsufficiency

Night Blindness

Nyctalopia

Malaria

Malaria, Susceptibility To

Malaria, Resistance To

Malaria, Cerebral

Cerebral Malaria

Malaria, Severe, Susceptibility To

Malaria, Severe, Resistance To

Malaria, Cerebral, Susceptibility To

Induced Malaria

Malaria, Vivax, Protection Against

Malaria, Severe

Malaria, Cerebral, Reduced Risk Of

Malaria, Protection Against

Resistance To Malaria Due To G6pd Deficiency

Malaria Due To G6pd Deficiency

Malarial Encephalitis

CM

Malaria Cerebral

Susceptibility To Malaria

Acute Pernicious Fever

Aestivo-Autumnal Fever

Aestivo Autumnal Malaria

Chagres Fever

Continued Malaria Fever

Estivo-Autumnal Fever

Estivo-Autumnal Malaria

Estivo-Autumnal Malarial Fever

Falciparum Fever

Malignant Tertian Fever

Malignant Tertian Malaria

Pernicious Intermittent Fever

Pernicious Malaria

Quotidian Malaria

Subtertian Fever

Subtertian Malaria Fever

Subtertian Malignant Tertian Malaria

Tropical Malaria

Algid Malaria

Bilious Haemoglobinuric Fever

Black Water Fever

Blackwater Fever

Malarial Blackwater Fever

Severe Malarial Falciparum

West African Fever

Malarial Haematinuria

Haemoglobinuric Fever

Haemoglobinuric Malaria

Severe Plasmodium Falciparum Malaria

Malarial Haemoglobinuria

Malarial Haematuria

Falciparum Malaria [Malignant Tertian]

Malaria Tropica

Malarial Shock

Chagres Virus Disease

Malignant Malaria

Mtm - [Malignant Tertian Malaria]

Tm -[Malignant Tertian Malaria]

Panama Fever

St - [Subtertian Malaria]

Malarial Quotidian

Benign Tertian Malaria

Tertian Ague

Vivax Fever

Plasmodium Vivax Malaria Nos

Btm - [Benign Tertian Malaria]

Bt - [Benign Tertian Malaria]

Vivax Malaria

Benign Tertian Vivax Malaria

Tertian Malaria

Quartan Malaria

Quartan Ague

Quartan Fever

Plasmodium Malariae Malaria Nos

Quartan Malarial

Malaria By Plasmodium Malariae

Malariae Malaria

Ovale Tertian Malaria

Plasmodium Ovale Fever

Malaria Fever By Plasmodium Ovale

Ovale Malaria

Malaria By Plasmodium Ovale

Malarial Ovale

Marsh Fever

Remittent Congestive Fever

Coastal Fever

Remittent Gastric Fever

Miasmatic Fever

Congestive Remittent Fever

Intermittent Fever

Jungle Fever

Paludism

Cameroon Fever

Ague

Corsican Fever

Intermittent Bilious Fever

Disease Due To Plasmodiidae

Malarial Fever

Plasmodiosis

Remittent Fever

Roman Fever

Malaria Fever Nos

Malaria Nos

Paludal Fever

Clinically Diagnosed Malaria

Clinically Diagnosed Malaria Without Parasitological Confirmation

Congestive Fever

Malarial Cachexia

Marsh Cachexia

Paludal Cachexia

Recurrent Malaria

Remittent Malaria

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Felis catus NLRP12 VGNC VGNC:97530
Mus musculus NLRP12 MGD MGI:2676630
Bos taurus NLRP12 VGNC VGNC:52210
Rattus norvegicus NLRP12 RGD RGD:1309415