MEFV - MEFV innate immunity regulator, pyrin Gene

Also Known as FMF; MEF; PAAND; TRIM20

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4210

About MEFV

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:3,242,027-3,256,633 (from NCBI)

This gene has 15 transcripts (splice variants), 86 orthologues, 80 paralogues and is associated with 8 phenotypes. Biased expression in appendix (RPKM 3.9), spleen (RPKM 3.2) and 11 other tissues.

Summary

This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]

MEFV Products (2)

mRNA	Protein	Name
NM_000243.3	NP_000234.1	pyrin isoform 1
NM_001198536.2	NP_001185465.2	pyrin isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables actin binding	IDA IDA: Inferred from direct assay	11468188	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	17964261	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11498534	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in inflammatory response	IDA IDA: Inferred from direct assay	11468188	GOA
involved in negative regulation of NLRP3 inflammasome complex assembly	IMP IMP: Inferred from mutant phenotype	26347139	GOA
involved in negative regulation of cytokine production involved in inflammatory response	IMP IMP: Inferred from mutant phenotype	26347139	GOA
involved in negative regulation of inflammatory response	IMP IMP: Inferred from mutant phenotype	16403826	GOA
involved in negative regulation of interleukin-1 beta production	IMP IMP: Inferred from mutant phenotype	20041150	GOA
involved in negative regulation of interleukin-12 production	IMP IMP: Inferred from mutant phenotype	20041150	GOA
involved in negative regulation of macrophage inflammatory protein 1 alpha production	IMP IMP: Inferred from mutant phenotype	20041150	GOA
involved in positive regulation of autophagy	IDA IDA: Inferred from direct assay	26347139	GOA
involved in positive regulation of cysteine-type endopeptidase activity	IDA IDA: Inferred from direct assay	19158676	GOA
involved in positive regulation of interleukin-1 beta production	IDA IDA: Inferred from direct assay	16037825	GOA
involved in pyroptosome complex assembly	IDA IDA: Inferred from direct assay	27030597	GOA
involved in regulation of interleukin-1 beta production	IMP IMP: Inferred from mutant phenotype	27030597	GOA
involved in response to type II interferon	IDA IDA: Inferred from direct assay	26347139	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of canonical inflammasome complex	IPI IPI: Inferred from physical interaction	16037825	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	26347139	GOA
part of microtubule associated complex	IDA IDA: Inferred from direct assay	11468188	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11115844	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MEFV Protein Structure

PYRIN

zf-B_box

PRY

SPRY

0
200
400
600
781 a.a.

Protein Preferred Names	Protein Names
pyrin	MEFV innate immuity regulator, pyrin

MEFV Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MEFV	O15553	PSTPIP1	Homo sapiens	O43586	Pull Down	17964261
Intra	MEFV	O15553	CASP1	Homo sapiens	P29466	Anti Bait CoIP	16785446
Intra	MEFV	O15553	PYCARD	Homo sapiens	Q9ULZ3	Anti Bait CoIP	17964261
Intra	MEFV	O15553	PYCARD	Homo sapiens	Q9ULZ3	Imaging	11498534
Intra	MEFV	O15553	PYCARD	Homo sapiens	Q9ULZ3	Anti Tag CoIP	25006247
Intra	MEFV	O15553	MEFV	Homo sapiens	O15553	Crosslink	17964261
Intra	MEFV	O15553	MEFV	Homo sapiens	O15553	Pull Down	17964261
Intra	MEFV	O15553	MEFV	Homo sapiens	O15553	Pull Down	25006247
Intra	MEFV	O15553	H1-2	Homo sapiens	P16403	Crosslink	30021884
Intra	MEFV	O15553	MEFV	Homo sapiens	O15553	Y2H	22829933
Intra	MEFV	O15553	MEFV	Homo sapiens	O15553	GMS	17964261

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Familial Mediterranean Fever	Periodic Fever Syndrome FMF Benign Paroxysmal Peritonitis Periodic Disease Recurrent Polyserositis Familial Paroxysmal Polyserositis Periodic Fever Familial Mediterranean Fever, Autosomal Recessive Familial Mediterranean Fever, Ar Polyserositis, Recurrent Polyserositis, Familial Paroxysmal Periodic Peritonitis Mef Reimann Periodic Disease Siegal-Cattan-Mamou Disease Wolff Periodic Disease Benign Recurrent Polyserositis Mediterranean Fever, Familial ARFMF Autosomal Recessive Familial Mediterranean Fever Fever, Mediterranean, Familial, Autosomal Recessive Hereditary Autoinflammatory Diseases Fmf - [Familial Mediterranean Fever] Periodic Polyserositis Periodic Familial Polyserositis Periodic Familial Peritonitis Paroxysmal Polyserositis Hereditary Amyloid Nephropathy Familial Recurrent Polyserositis Familial Non-Neuropathic Amyloidosis Armenian Disease Riemann Periodic Disease Siegal Cattan Mamou Disease
Neutrophilic Dermatosis, Acute Febrile	Sweet Syndrome Acute Febrile Neutrophilic Dermatosis Ss AFND Pyrin-Associated Autoinflammatory Disease PAAND Gomm-Button Disease Sweet'S Syndrome Gomm Button Disease Sweets Syndrome Acromelic Frontonasal Dysostosis Sweet Disease
Familial Mediterranean Fever, Autosomal Dominant	Familial Mediterranean Fever, Ad Fmf, Autosomal Dominant ADFMF Fever, Mediterranean, Familial, Autosomal Dominant
Behcet Syndrome	Behcet Disease Behcet'S Syndrome Behcet'S Disease Behçet Disease Bd Adamantiades-Behcet Disease Triple Symptom Complex Behçet'S Disease Behet'S Syndrome Bd Syndrome Behçet Syndrome Behçet'S Syndrome Behcet Triple Symptom Complex Malignant Aphthosis Old Silk Route Disease Adamantiades-Behçet Disease
Autoinflammatory Syndrome
Motor Stereotypies	Motor Stereotypy
Brachydactyly
Stereotypic Movement Disorder	Stereotypy Habit Disorder Stereotyped Repetitive Movements Stereotyped Disorder Stereotypes Nos Stereotype Habit Disorder
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Hereditary Periodic Fever Syndrome	Hereditary Periodic Fever Syndromes
Intermittent Hydrarthrosis	Intermittent Joint Effusion Hydrops Articulorum Intermittens
Pyoderma Gangrenosum	Phagedenic Pyoderma Phagedena Geometric
Vasculitis	Angiitis Autoimmune Vasculitis Systemic Vasculitis Vasculitis, Autoimmune
Brucellosis	Mediterranean Fever Malta Fever Undulant Fever Gibraltar Fever Bang'S Disease Maltese Fever Cyprus Fever Rock Fever Brucellosis Infection Brucella Infection
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
Pyoderma
Pericarditis
Henoch-Schoenlein Purpura	Henoch-Schonlein Purpura Iga Vasculitis Allergic Purpura Anaphylactoid Purpura Rheumatoid Purpura Immunoglobulin A Vasculitis Vascular Purpura Purpura Rheumatica Henoch-Schönlein Purpura Autoimmune Purpura Henoch-Schnlein Purpura Henoch-Sch@Nlein Purpura Henoch-Scholein Purpura Purpura, Autoimmune Henoch Schonlein Purpura Immunoglobulin-A Vasculitis Purpura, Schonlein-Henoch Purpura, Schönlein-Henoch Hsp - Schönlein-Henoch Purpura
Hydrarthrosis
Polyarteritis Nodosa	Polyarteritis Periarteritis Nodosa Pan Periarteritis Kussmaul-Maier Disease Panarteritis Nodosa Kussmaul Disease Pan - [Polyarteritis Nodosa] Polyangiitis Panangiitis Arteritis Nodosa
Amyloidosis	Amyloid Disease Amyloid Amyloid Degeneration Amyloidosis Nos Amyloid Deposition Amyloid Infiltration Idiopathic Amyloidosis Hyaloid Degeneration Lardaceous Degeneration
Serum Amyloid A Amyloidosis	Aa Amyloidosis Secondary Amyloidosis Reactive Systemic Amyloidosis Apo Serum Amyloid A Amyloidosis Inflammation Aa Amyloidosis Amyloidosis Aa Amyloid A Amyloidosis Inflammatory Amyloidosis Reactive Amyloidosis Amyloidosis Secondary Secondary Systemic Amyloidosis Amyloid Aa
Pleurisy
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
Relapsing Fever	Febris Recurrens Novy Febris Recurrens Novy Relapsing Fever
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
Gout	Gouty Arthritis Articular Gout Gouty Arthropathy Arthritis, Gouty Arthritis Gouty Idiopathic Gout Idiopathic Gout, Unspecified Site Gouty Bursitis Uratic Arthritis Gout Nos Gouty Gouty Diathesis
Pharyngitis	Acute Pharyngitis Chronic Pharyngitis Acute Sore Throat Chronic Sore Throat Persistent Sore Throat Pharyngeal Diseases Chronic Pharyn/Nasopharyngitis Chronic Pharyngitis And Nasopharyngitis Inflamed Throat Pharyngeal Disease Pharyngeal Disorder Pharyngitis - Acute Sore Throat - Chronic Acute Pharyngitis Nos Acute Sore Throat Nos Acute Throat Inflammation Infective Pharyngitis Infection Of Pharynx Acute Infective Pharyngitis Acute Infective Pharyngitis Nos Acute Pharyngeal Inflammation Inflammation Of The Throat Throat Inflammation Throat Infection Putrid Pharyngitis Pharyngeal Inflammation Pharyngitis Nos Chronic Throat Pain Throat Catarrh
Kidney Disease	Renal Failure Kidney Failure Kidney Diseases Nephropathy Abnormality Of The Kidney Impaired Renal Function Disease Renal Anomaly Kidney Dysfunction Renal Disease Nephropathies Renal Failure Adverse Event Abnormal Renal Function
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Palindromic Rheumatism	Hench'S Syndrome Hench-Rosenberg Syndrome Palindromic Rheumatism Syndrome Palindromic Arthritis
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
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
Arthritis	Inflammatory Joint Disease Inflammatory Disorder Of Joint
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
Proteasome-Associated Autoinflammatory Syndrome 1	Jmp Syndrome Nakajo-Nishimura Syndrome Nkjo Autoinflammation, Lipodystrophy, And Dermatosis Syndrome Proteasome-Associated Autoinflammatory Syndrome 1 And Digenic Forms Nakajo Syndrome PRAAS1 Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy And Elevated Temperature Syndrome Candle Joint Contractures, Muscular Atrophy, Microcytic Anemia, And Panniculitis-Induced Lipodystrophy Aldd Inflammation Joint Contractures - Muscle Atrophy - Microcytic Anemia - Panniculitis-Induced Lipodystrophy Nakajo Nishimura Syndrome Amyotrophy Fat Tissue Anomaly Japanese Autoinflammatory Syndrome With Lipodystrophy Jasl Joint Contractures Muscular Atrophy Microcytic Anemia And Panniculitis-Induced Lipodystrophy Nns Nodular Erythema With Digital Changes Secondary Hypertrophic Osteoperiostosis With Pernio
Cervical Adenitis	Cervical Lymphadenitis
Hidradenitis	Hydradenitis
Hidradenitis Suppurativa	Acne Inversa Suppurative Hidradenitis Acne Inversa, Familial Apocrinitis Hidradenitides, Suppurative Hidradenitis, Suppurative Suppurative Hidradenitides Inverse Acne
Amyloidosis, Familial Visceral	Ostertag Type Amyloidosis German Type Amyloidosis Familial Renal Amyloidosis Amyloidosis Viii Amyloidosis, 3 Or More Types Familial Visceral Amyloidosis Familial Amyloid Nephropathy Hereditary Amyloid Nephropathy Amyloidosis, Familial Renal Amyloidosis, Systemic Nonneuropathic Amyloidosis Familial Visceral Amyloidosis 8 Amyloidosis, Ostertag Type Hereditary Amyloidosis With Primary Renal Involvement Hereditary Renal Amyloidosis Renal Amyloidosis Amyloidosis, Renal Systemic Nonneuropathic Amyloidosis Amyloidosis Familial Renal Amyloidosis Systemic Nonneuropathic Hereditary Amyloidosis With Primary Renal Involement AMYL8 Systemic Non-Neuropathic Amyloidosis Amyloid Nephropathy
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
Familial Cold Autoinflammatory Syndrome	Familial Cold Urticaria Fcas Familial Polymorphous Cold Eruption Fcu Cold Hypersensitivity
Submandibular Adenitis	Submandibular Lymphadenitis
Erysipelas
Aphthous Stomatitis	Oral Ulcer Canker Sore Aphtha Aphthous Ulceration Oral Aphthae Oral Aphthous Ulcer Canker Sores Stomatitis, Aphthous Minor Oral Aphthous Ulceration
Peritonitis	Retractile Mesenteritis Sclerosing Mesenteritis Acute Generalized Peritonitis Primary Bacterial Peritonitis Idiopathic Sclerosing Mesenteritis Mesenteric Panniculitis Peritoneal Retractile Mesenteritis Liposclerotic Mesenteritis Mesenteric Fibromatosis Mesenteric Lipodystrophy Mesenteric Lipogranuloma Fibromatosis, Abdominal Peritoneum Inflammation Peritonitis Of Undetermined Cause Peritonitis Of Unspecified Cause Pelviperitonitis Pelvic Peritonitis, Nos Generalised Peritonitis Nos Abdominal Peritonitis Acute Idiopathic Peritonitis Acute Lesser Sac Peritonitis Acute Peritoneal Inflammation Diffuse Peritonitis Peritoneal Inflammation Acute Primary Peritonitis Pneumococcal Peritonitis
Stomatitis
Acne	Acne Vulgaris Acne Varioliformis Frontalis Acne
Osteomyelitis
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
Hypersensitivity Vasculitis	Cutaneous Small Vessel Vasculitis Hypersensitivity Angiitis Cutaneous Leukocytoclastic Vasculitis Leukocytoclastic Angiitis Vasculitis, Leukocytoclastic, Cutaneous Leukocytoclastic Vasculitis Cutaneous Leukocytoclastic Angiitis Cutaneous Hypersensitivity Vasculitis Vasculitis Hypersensitivity Drug Induced Cutaneous Vasculitis Allergic Vasculitis
Myelitis	Spinal Cord Inflammation Nos Radiculomyelitis Nos Myeloradiculitis
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
Nail-Patella Syndrome	Turner-Kieser Syndrome Onychoosteodysplasia Fong Disease NPS Hereditary Onycho-Osteodysplasia Nps1 Hereditary Onychoostedysplasia Iliac Horn Syndrome Nail Patella Syndrome Turner-Kiser Syndrome Arthro-Onychodysplasia Nps 1 Osteo-Onychodysplasia Hereditary Osteo-Onychodysplasia Osterreicher Syndrome Pelvic Horn Syndrome Österreicher-Turner Syndrome Nps - [Nail-Patella Syndrome] Hood - [Hereditary Onycho-Osteodysplasia] Syndrome
Hypersensitivity Reaction Type Iii Disease	Immune Complex Diseases Immune Complex Disease Type Iii Hypersensitivity Reaction Disease
Familial Behcet-Like Autoinflammatory Syndrome	Autoinflammatory Syndrome, Familial, Behcet-Like A20 Haploinsufficiency
Chronic Recurrent Multifocal Osteomyelitis	Chronic Multifocal Osteomyelitis CRMO Cmo Cno/Crmo Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis Osteomyelitis, Chronic Multifocal Multifocal Osteomyelitis, Chronic Chronic Osteomyelitis Chronic Multifocal Osteomyelitis, Unspecified Site Crmo - [Chronic Multifocal Osteomyelitis] Chronic Osteomyelitis With Draining Sinus, Unspecified Site Bone Fistula With Chronic Osteomyelitis
Adult-Onset Still'S Disease	Adult-Onset Still Disease Adult Onset Still'S Disease Adult Still'S Disease Still'S Disease Adult Onset Aosd Wissler-Fanconi Syndrome Stills Disease Adult-Onset Still'S Disease, Adult-Onset Wissler'S Syndrome
Sebaceous Gland Disease	Sebaceous Gland Anomaly Sebaceous Gland Diseases
Aseptic Meningitis	Acute Aseptic Meningitis Meningitis Aseptic Meningitis, Aseptic
Schnitzler Syndrome	Chronic Urticaria With Gammopathy Chronic Urticaria With Macroglobulinemia Chronic Urticaria With Gammapathy
Peroxisomal Disease	Peroxisomal Disorder Peroxisomal Disorders Peroxisomal Defects
Autoimmune Disease Of Cardiovascular System
Pericardium Disease
Iga Glomerulonephritis	Iga Nephropathy Glomerulonephritis, Iga Berger'S Iga Or Igg Nephropathy Focal Glomerulonephritis Primary Iga Nephropathy Segmental Glomerulonephritis Berger Disease Berger'S Disease Igan Nephritis, Iga Type Nephropathy Iga Glomerulonephritis Focal Iga Nephropathy, Susceptibility To Primary Immunoglobulin A Nephropathy
Chronic Meningitis
Chondrocalcinosis	Pseudogout Calcium Pyrophosphate Deposition Disease Familial Chondrocalcinosis Chondrocalcinosis Nos Cppd - [Calcium Pyrophosphate Deposition Disease] Cpdd - [Calcium Pyrophosphate Deposition Disease] Chondrocalcinosis, Due To Pyrophosphate Crystals, Involving Unspecified Site Chondrocalcinosis, Cause Unspecified Chondrocalcinosis Due To Pyrophosphate Crystals Chondrocalcinosis Articularis Calcium Pyrophosphate Arthritis And Periarthritis
Lymph Node Disease	Abnormality Of The Lymph Nodes Disorder Of Lymph Node
Rheumatoid Arthritis	RA Arthritis, Rheumatoid Rheumatoid Arthritis, Susceptibility To Arthritis Or Polyarthritis, Rheumatic Atrophic Arthritis Rheumatism Arthritis Rheumatoid Polyarthritis
Primary Bacterial Infectious Disease
Spondyloarthropathy	Spondylarthropathies Spondarthropathy Spondylarthrosis Spondyloarthropathy, Susceptibility To Spondylarthritis
Systemic Lupus Erythematosus	Lupus Nephritis SLE Disseminated Lupus Erythematosus Systemic Lupus Erythematosus, Susceptibility To Lupus Erythematosus, Systemic Lupus Nephritis, Susceptibility To Libman-Sacks Disease Systemic Lupus Erythematosus Susceptibility To Sle - Lupus Erythematosus, Systemic Le Syndrome Lupus Lupus Erythematosus Systemic Lupus Erythematosus, Systemic, Susceptibility To Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus Systemic Lupus Erythematosus Nos Sle - [Systemic Lupus Erythematosus]
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
Aicardi-Goutieres Syndrome	Aicardi Goutieres Syndrome Cree Encephalitis Aicardi-Goutières Syndrome Encephalopathy With Basal Ganglia Calcification Ags Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid Pseudotoxoplasmosis Syndrome Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis Aicardi-Goutieres Syndrome 1
Lipoprotein Quantitative Trait Locus	Coronary Artery Disease Coronary Artery Anomaly Coronary Artery Disease, Susceptibility To Myocardial Ischemia Congenital Anomaly Of Coronary Artery Coronary Arteriosclerosis Coronary Disease Coronary Heart Disease Coronary Artery Disorder LPAQTL Lpa Deficiency, Congenital Coronary Artery Abnormality Coronary Artery Anomaly, Congenital Chd Coronary Syndrome Congenital Malformations Of Coronary Vessels Malformation Of Coronary Vessels Congenital Coronary Artery Anomaly Congenital Coronary Artery Deformity Congenital Coronary Artery Disorder Abnormal Coronary Artery Congenital Coronary Artery Malposition Congenital Coronary Disease Congenital Anomaly Of Coronary Arteries
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08313	MEFV Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20773	Mefv Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27287	Mefv Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MEFV	MGD	MGI:1859396
Felis catus	MEFV	VGNC	VGNC:68231
Rattus norvegicus	MEFV	RGD	RGD:61889
Macaca mulatta	MEFV	VGNC	VGNC:74700
Bos taurus	MEFV	VGNC	VGNC:59348
Canis familiaris	MEFV	VGNC	VGNC:43146
Others	MEFV	NCBI