1. Gene
  2. A2ML1 - alpha-2-macroglobulin like 1 Gene

A2ML1 - alpha-2-macroglobulin like 1 Gene

Homo sapiens

Also known as OMS; p170; CPAMD9

Gene ID: 144568 | Gene type: protein coding

About A2ML1

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:8,822,621-8,887,459 (from NCBI)

This gene has 9 transcripts (splice variants), 517 orthologues, 8 paralogues and is associated with 1 phenotype. Restricted expression toward esophagus (RPKM 190.0).

Summary

This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID:20805888). Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases of otitis media (PMID:26121085). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

A2ML1 Products(2)

mRNA Protein Name
NM_001282424.3 NP_001269353.2 alpha-2-macroglobulin-like protein 1 isoform 2
NM_144670.6 NP_653271.3 alpha-2-macroglobulin-like protein 1 isoform 1 precursor

A2ML1 Protein Structure

A2M_N

A2M_N: MG2 domain (122 - 205)

A2M_N_2

A2M_N_2: Alpha-2-macroglobulin family N-terminal region (455 - 601)

A2M

A2M: Alpha-2-macroglobulin family (736 - 825)

Thiol-ester_cl

Thiol-ester_cl: Alpha-macro-globulin thiol-ester bond-forming region (959 - 989)

A2M_comp

A2M_comp: A-macroglobulin complement component (1009 - 1253)

A2M_recep

A2M_recep: A-macroglobulin receptor (1362 - 1449)

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  • 1454 a.a.
Protein Preferred Names Protein Names

alpha-2-macroglobulin-like protein 1

C3 and PZP-like, alpha-2-macroglobulin domain containing 9

Related Diseases

Diseases Alias
Otitis Media

Opsoclonus-Myoclonus Syndrome

OMS

Otitis Media, Susceptibility To

Kinsbourne Syndrome

Otitis Media, Chronic/Recurrent

Come/Rom

Ataxo-Opso-Myoclonus Syndrome

Dancing Eye Syndrome

Dancing Eye-Dancing Feet Syndrome

Oma Syndrome

Opsoclonus Myoclonus Syndrome

Opsoclonus-Myoclonus-Ataxia Syndrome

Poma Syndrome

Paraneoplastic Opsoclonus-Myoclonus

Paraneoplastic Opsoclonus-Myoclonus-Ataxia Syndrome

Opsoclonus Myoclonus

OM

{Otitis Media, Susceptibility To}

Infectious Otitis Media

Paraneoplastic Pemphigus
Pemphigus
Chronic Purulent Otitis Media

Chronic Suppurative Otitis Media

Csom - [Chronic Suppurative Otitis Media]

Achilles Bursitis

Achilles Bursitis Or Tendinitis

Capped Hock

Haglund'S Deformity

Haglund'S Disease

Osteochondritis Of The Talus

Suppurative Otitis Media

Otitis Media With Effusion - Purulent

Purulent Otitis Media

Otitis Media, Suppurative

Subcorneal Pustular Dermatosis

Subcorneal Pustular Dermatitis

Sneddon-Wilkinson Disease Or Syndrome

Pustulosis Subcornealis

Sneddon-Wilkinson Disease

Skin Diseases, Vesiculobullous

Vesiculobullous Skin Disease

Lymphatic Malformation 12

Central Conducting Lymphatic Anomaly

LMPHM12

Ccla

Lymphatic Malformation-7

Doid:0081030

Pulmonary Valve Stenosis

Valvular Pulmonary Stenosis

Heart Valve Pulmonary Stenosis

Valvar Pulmonary Stenosis

Valvate Pulmonary Stenosis

Pulmonary Stenosis

Pulmonary Valve Stricture

Pulmonic Valve Stenosis

Ps - [Pulmonary Valve Stenosis]

Pvs - [Pulmonary Valve Stenosis]

Pulmonary Valvular Stricture

Pulmonary Valvular Stenosis

Pulmonary Valvular Obstruction

Pulmonary Valve Obstruction

Obstructed Pulmonary Valve

Neurofibromatosis-Noonan Syndrome

NFNS

Neurofibromatosis Type 1

Neurofibromatosis With Noonan Phenotype

Nf1

Von Recklinghausen Disease

Neurofibromatosis Type 1-Noonan Syndrome

Noonan Neurofibromatosis Syndrome

Recklinghausen'S Disease

Noonan-Neurofibromatosis Syndrome

Fibromatosis Multiple Non Ossifying

Disseminated Nonossifying Fibromas In Association With Cafe-Au-Lait Spots

Jaffe Campanacci Syndrome

Type 1 Neurofibromatosis

Neurofibromatosis 1

Peripheral Neurofibromatosis

Recklinghausen Disease, Nerve

Jaffe-Campanacci Syndrome

Pseudomembranous Conjunctivitis
Pulmonary Valve Disease

Pulmonary Valve Disorder

Pylorospasm
Acute Conjunctivitis
Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Ohdo Syndrome, Sbbys Variant

Say-Barber-Biesecker-Young-Simpson Syndrome

SBBYSS

Young-Simpson Syndrome

Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type

Yss

Sbbys Variant Of Ohdo Syndrome

Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type

Young Simpson Syndrome

Sbbyss Syndrome

Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Blepharophimosis And Mental Retardation Syndrome, Say-Barber/Biesecker/Young-Simpson Type

Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/Biesecker/Young-Simpson Type

Bmrs Sbbys

Ohdo Syndrome, Say-Barber-Biesecker Variant

Say-Barber-Biesecker-Young-Simpson Variant Of Ohdo Syndrome

Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome

Say-Barber-Biesecker Variant Of Ohdo Syndrome

Cardiofaciocutaneous Syndrome 1

Cardiofaciocutaneous Syndrome

Cfc Syndrome

Cardio-Facio-Cutaneous Syndrome

CFC1

Cfcs

Cardio-Facial-Cutaneous Syndrome

Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure

Cardiofaciocutaneous Syndrome, Type 1

Noonan Syndrome With Multiple Lentigines

Leopard Syndrome

Multiple Lentigines Syndrome

Moynahan Syndrome

Cardiomyopathic Lentiginosis

Progressive Cardiomyopathic Lentiginosis

Cardio-Cutaneous Syndrome

Lentiginosis Profusa

Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome

Generalized Lentiginosis

Gorlin Syndrome Ii

Lentiginosis Profusa Syndrome

Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation Of Growth, Deafnes

Diffuse Lentiginosis

Nsml

Familial Multiple Lentigines Syndrome

Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type

Progressive Cardiomyopathic Lentiginosis Syndrome

Alopecia Epilepsy Oligophrenia Syndrome Of Moynahan

Costello Syndrome

Faciocutaneoskeletal Syndrome

Fcs Syndrome

Congenital Myopathy With Excess Of Muscle Spindles

CSTLO

CMEMS

Fcss

Myopathy, Congenital, With Excess Of Muscle Spindles

Bullous Skin Disease

Skin Diseases Bullous

Skin Diseases, Bullous

Middle Ear Disease

Middle Ear Anomaly

Disorder Of Middle Ear

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

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