Disease Name:
Multiple Endocrine Neoplasia Type 2a
Alternative Names:
MEA 2a
MEA II
MEA IIa
MEN 2
MEN 2a
MEN II
MEN IIa
MEN-2A Syndrome
MEN2a
Multiple Endocrine Neoplasia Type 2
Multiple Endocrine Neoplasia, Type IIa
Multiple Endocrine Neoplasms Type 2a
Neoplasia, Multiple Endocrine Type 2a
Neoplasms, Multiple Endocrine Type 2a
Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma
Sipple Syndrome
PTC Syndrome
MeSH Description:
A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (carcinoma, medullary) of the thyroid gland, and usually with the co-occurrence of pheochromocytoma, producing calcitonin and adrenaline, respectively. Less frequently, it can occur with hyperplasia or adenoma of the parathyroid glands. This disease is due to gain-of-function mutations of the MEN2 gene on chromosome 10(Locus: 10q11.2), also known as the ret proto-oncogene that encodes a receptor protein-tyrosine kinase. It is an autosomal dominant inherited disease.
Type:
Clinical condition associated with amyloidosis
ICD-10 Classification
Endocrine, Nutritional and Metabolic Diseases
Tissue:
Skin
Associated Amyloidosis:
Amyloidosis, Primary Cutaneous
Precursor Proteins:
P02533: Keratin, type I cytoskeletal 14
Primary Name:
Keratin, type I cytoskeletal 14
Gene Name:
KRT14
Alternative Protein Names:
Keratin, type I cytoskeletal 14 (Cytokeratin-14) (CK-14) (Keratin-14) (K14)
ISA Nomenclature:
Protein Length:
472
Precursor Protein Sequence:
MTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPSTYGGGLSVSSSRFSSGGACGLGGGYGGGFSSSSSSFGSGFGGGYGGGLGAGLGGGFGGGFAGGDGLLVGSEKVTMQNLNDRLASYLDKVRALEEANADLEVKIRDWYQRQRPAEIKDYSPYFKTIEDLRNKILTATVDNANVLLQIDNARLAADDFRTKYETELNLRMSVEADINGLRRVLDELTLARADLEMQIESLKEELAYLKKNHEEEMNALRGQVGGDVNVEMDAAPGVDLSRILNEMRDQYEKMAEKNRKDAEEWFFTKTEELNREVATNSELVQSGKSEISELRRTMQNLEIELQSQLSMKASLENSLEETKGRYCMQLAQIQEMIGSVEEQLAQLRCEMEQQNQEYKILLDVKTRLEQEIATYRRLLEGEDAHLSSSQFSSGSQSSRDVTSSSRQIRTKVMDVHDGKVVSTHEQVLRTKN
UniProt AC:
P02533
UniProt ID:
K1C14_HUMAN
AmyPro:
P04264: Keratin, type II cytoskeletal 1
Primary Name:
Keratin, type II cytoskeletal 1
Gene Name:
KRT1
Alternative Protein Names:
Keratin, type II cytoskeletal 1 (67 kDa cytokeratin) (Cytokeratin-1) (CK-1) (Hair alpha protein) (Keratin-1) (K1) (Type-II keratin Kb1)
ISA Nomenclature:
Protein Length:
644
Precursor Protein Sequence:
MSRQFSSRSGYRSGGGFSSGSAGIINYQRRTTSSSTRRSGGGGGRFSSCGGGGGSFGAGGGFGSRSLVNLGGSKSISISVARGGGRGSGFGGGYGGGGFGGGGFGGGGFGGGGIGGGGFGGFGSGGGGFGGGGFGGGGYGGGYGPVCPPGGIQEVTINQSLLQPLNVEIDPEIQKVKSREREQIKSLNNQFASFIDKVRFLEQQNQVLQTKWELLQQVDTSTRTHNLEPYFESFINNLRRRVDQLKSDQSRLDSELKNMQDMVEDYRNKYEDEINKRTNAENEFVTIKKDVDGAYMTKVDLQAKLDNLQQEIDFLTALYQAELSQMQTQISETNVILSMDNNRSLDLDSIIAEVKAQYEDIAQKSKAEAESLYQSKYEELQITAGRHGDSVRNSKIEISELNRVIQRLRSEIDNVKKQISNLQQSISDAEQRGENALKDAKNKLNDLEDALQQAKEDLARLLRDYQELMNTKLALDLEIATYRTLLEGEESRMSGECAPNVSVSVSTSHTTISGGGSRGGGGGGYGSGGSSYGSGGGSYGSGGGGGGGRGSYGSGGSSYGSGGGSYGSGGGGGGHGSYGSGSSSGGYRGGSGGGGGGSSGGRGSGGGSSGGSIGGRGSSSGGVKSSGGSSSVKFVSTTYSGVTR
UniProt AC:
P04264
UniProt ID:
K2C1_HUMAN
AmyPro:
P13647: Keratin, type II cytoskeletal 5
Primary Name:
Keratin, type II cytoskeletal 5
Gene Name:
KRT5
Alternative Protein Names:
Keratin, type II cytoskeletal 5 (58 kDa cytokeratin) (Cytokeratin-5) (CK-5) (Keratin-5) (K5) (Type-II keratin Kb5)
ISA Nomenclature:
Protein Length:
590
Precursor Protein Sequence:
MSRQSSVSFRSGGSRSFSTASAITPSVSRTSFTSVSRSGGGGGGGFGRVSLAGACGVGGYGSRSLYNLGGSKRISISTSGGSFRNRFGAGAGGGYGFGGGAGSGFGFGGGAGGGFGLGGGAGFGGGFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPSIQRVRTEEREQIKTLNNKFASFIDKVRFLEQQNKVLDTKWTLLQEQGTKTVRQNLEPLFEQYINNLRRQLDSIVGERGRLDSELRNMQDLVEDFKNKYEDEINKRTTAENEFVMLKKDVDAAYMNKVELEAKVDALMDEINFMKMFFDAELSQMQTHVSDTSVVLSMDNNRNLDLDSIIAEVKAQYEEIANRSRTEAESWYQTKYEELQQTAGRHGDDLRNTKHEISEMNRMIQRLRAEIDNVKKQCANLQNAIADAEQRGELALKDARNKLAELEEALQKAKQDMARLLREYQELMNTKLALDVEIATYRKLLEGEECRLSGEGVGPVNISVVTSSVSSGYGSGSGYGGGLGGGLGGGLGGGLAGGSSGSYYSSSSGGVGLGGGLSVGGSGFSASSGRGLGVGFGSGGGSSSSVKFVSTTSSSRKSFKS
UniProt AC:
P13647
UniProt ID:
K2C5_HUMAN
AmyPro:
P47929: Galectin-7
Primary Name:
Galectin-7
Gene Name:
LGALS7
Alternative Protein Names:
Galectin-7 (Gal-7) (HKL-14) (PI7) (p53-induced gene 1 protein)
ISA Nomenclature:
AGal7
Protein Length:
136
Precursor Protein Sequence:
MSNVPHKSSLPEGIRPGTVLRIRGLVPPNASRFHVNLLCGEEQGSDAALHFNPRLDTSEVVFNSKEQGSWGREERGPGVPFQRGQPFEVLIIASDDGFKAVVGDAQYHHFRHRLPLARVRLVEVGGDVQLDSVRIF
UniProt AC:
P47929
UniProt ID:
LEG7_HUMAN
AmyPro:
AP00139
P60709: Actin, cytoplasmic 1
Primary Name:
Actin, cytoplasmic 1
Gene Name:
ACTB
Alternative Protein Names:
Actin, cytoplasmic 1 (Beta-actin) [Cleaved into: Actin, cytoplasmic 1, N-terminally processed]
ISA Nomenclature:
Protein Length:
375
Precursor Protein Sequence:
MDDDIAALVVDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWDDMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVTHTVPIYEGYALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSYELPDGQVITIGNERFRCPEALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDESGPSIVHRKCF
UniProt AC:
P60709
UniProt ID:
ACTB_HUMAN
AmyPro:
P63261: Actin, cytoplasmic 2
Primary Name:
Actin, cytoplasmic 2
Gene Name:
ACTG1
Alternative Protein Names:
Actin, cytoplasmic 2 (Gamma-actin) [Cleaved into: Actin, cytoplasmic 2, N-terminally processed]
ISA Nomenclature:
Protein Length:
375
Precursor Protein Sequence:
MEEEIAALVIDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWDDMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVTHTVPIYEGYALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSYELPDGQVITIGNERFRCPEALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDESGPSIVHRKCF
UniProt AC:
P63261
UniProt ID:
ACTG_HUMAN
AmyPro:
P0DOX7: Immunoglobulin kappa light chain
Primary Name:
Immunoglobulin kappa light chain
Gene Name:
IGK
Alternative Protein Names:
Immunoglobulin kappa light chain (Immunoglobulin kappa light chain EU)
ISA Nomenclature:
AL
Protein Length:
214
Precursor Protein Sequence:
DIQMTQSPSTLSASVGDRVTITCRASQSINTWLAWYQQKPGKAPKLLMYKASSLESGVPSRFIGSGSGTEFTLTISSLQPDDFATYYCQQYNSDSKMFGQGTKVEVKGTVAAPSVFIFPPSDEQLKSGTASVVCLLNNFYPREAKVQWKVDNALQSGNSQESVTEQDSKDSTYSLSSTLTLSKADYEKHKVYACEVTHQGLSSPVTKSFNRGEC
UniProt AC:
P0DOX7
UniProt ID:
IGK_HUMAN
AmyPro:
P0DOX8: Immunoglobulin lambda-1 light chain
Primary Name:
Immunoglobulin lambda-1 light chain
Gene Name:
IGL1
Alternative Protein Names:
Immunoglobulin lambda-1 light chain (Immunoglobulin lambda-1 light chain MCG)
ISA Nomenclature:
AL
Protein Length:
216
Precursor Protein Sequence:
QSALTQPPSASGSLGQSVTISCTGTSSDVGGYNYVSWYQQHAGKAPKVIIYEVNKRPSGVPDRFSGSKSGNTASLTVSGLQAEDEADYYCSSYEGSDNFVFGTGTKVTVLGQPKANPTVTLFPPSSEELQANKATLVCLISDFYPGAVTVAWKADGSPVKAGVETTKPSKQSNNKYAASSYLSLTPEQWKSHRSYSCQVTHEGSTVEKTVAPTECS
UniProt AC:
P0DOX8
UniProt ID:
IGL1_HUMAN
AmyPro:
Co-deposited Proteins:
No information available
