Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

4771

Name

NF2

Synonym

ACN|BANF|SCH;neurofibromin 2 (merlin);NF2;neurofibromin 2 (merlin)

Definition

merlin|moesin-ezrin-radixin like|moesin-ezrin-radixin-like protein|moesin-ezrin-radizin-like protein|neurofibromin 2 (bilateral acoustic neuroma)|neurofibromin-2|schwannomerlin|schwannomin

Position

22q12.2

Gene Type

protein-coding

TSG scores

Description

TUSON ranking

85

TUSON P-value

8.61E-07

Pathways and Diseases

Pathway

ErbB2/ErbB3 signaling events;PID Curated;200119

Disease

Neurofibromatosis;FunDO

Disease

Polyneuropathy;FunDO

Disease

Cancers;KEGG DISEASE

Disease

Schwannomatosis;OMIM

Disease

Cancers of the lung and pleura;KEGG DISEASE

Disease

neurofibromatosis2;GAD

Disease

CARDIOVASCULAR;GAD

Disease

CANCER;GAD

Disease

Neurofibromatosis, type 2;OMIM

Disease

Spinal cord disease;FunDO

Disease

Cancer;FunDO

Disease

Neurofibromatosis type 2;GAD

Disease

Meningioma, NF2-related, somatic;OMIM

Disease

Carotid atherosclerosis in HIV infection;GAD

Disease

Malignant pleural mesothelioma;KEGG DISEASE;H00015

External Links

Links to Entrez Gene

4771

Links to all GeneRIF Items

4771

Links to iHOP

4771

Sequence Information

The sequences provided here are only the longest representative sequences, not covering all the isoforms.

Nucleotide Sequence

>4771 : length: 1788
atggccggggccatcgcttcccgcatgagcttcagctctctcaagaggaagcaacccaag
acgttcaccgtgaggatcgtcaccatggacgccgagatggagttcaattgcgagatgaag
tggaaagggaaggacctctttgatttggtgtgccggactctggggctccgagaaacctgg
ttctttggactgcagtacacaatcaaggacacagtggcctggctcaaaatggacaagaag
gtactggatcatgatgtttcaaaggaagaaccagtcacctttcacttcttggccaaattt
tatcctgagaatgctgaagaggagctggttcaggagatcacacaacatttattcttctta
caggtaaagaagcagattttagatgaaaagatctactgccctcctgaggcttctgtgctc
ctggcttcttacgccgtccaggccaagtatggtgactacgaccccagtgttcacaagcgg
ggatttttggcccaagaggaattgcttccaaaaagggtaataaatctgtatcagatgact
ccggaaatgtgggaggagagaattactgcttggtacgcagagcaccgaggccgagccagg
gatgaagctgaaatggaatatctgaagatagctcaggacctggagatgtacggtgtgaac
tactttgcaatccggaataaaaagggcacagagctgctgcttggagtggatgccctgggg
cttcacatttatgaccctgagaacagactgacccccaagatctccttcccgtggaatgaa
atccgaaacatctcgtacagtgacaaggagtttactattaaaccactggataagaaaatt
gatgtcttcaagtttaactcctcaaagcttcgtgttaataagctgattctccagctatgt
atcgggaaccatgatctatttatgaggagaaggaaagccgattctttggaagttcagcag
atgaaagcccaggccagggaggagaaggctagaaagcagatggagcggcagcgcctcgct
cgagagaagcagatgagggaggaggctgaacgcacgagggatgagttggagaggaggctg
ctgcagatgaaagaagaagcaacaatggccaacgaagcactgatgcggtctgaggagaca
gctgacctgttggctgaaaaggcccagatcaccgaggaggaggcaaaacttctggcccag
aaggccgcagaggctgagcaggaaatgcagcgcatcaaggccacagcgattcgcacggag
gaggagaagcgcctgatggagcagaaggtgctggaagccgaggtgctggcactgaagatg
gctgaggagtcagagaggagggccaaagaggcagatcagctgaagcaggacctgcaggaa
gcacgcgaggcggagcgaagagccaagcagaagctcctggagattgccaccaagcccacg
tacccgcccatgaacccaattccagcaccgttgcctcctgacataccaagcttcaacctc
attggtgacagcctgtctttcgacttcaaagatactgacatgaagcggctttccatggag
atagagaaagaaaaagtggaatacatggaaaagagcaagcatctgcaggagcagctcaat
gaactcaagacagaaatcgaggccttgaaactgaaagagagggagacagctctggatatt
ctgcacaatgagaactccgacaggggtggcagcagcaagcacaataccattaaaaagctc
accttgcagagcgccaagtcccgagtggccttctttgaagagctctag

Protein Sequence

>4771 : length: 595
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFNCEMKWKGKDLFDLVCRTLGLRETW
FFGLQYTIKDTVAWLKMDKKVLDHDVSKEEPVTFHFLAKFYPENAEEELVQEITQHLFFL
QVKKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKRGFLAQEELLPKRVINLYQMT
PEMWEERITAWYAEHRGRARDEAEMEYLKIAQDLEMYGVNYFAIRNKKGTELLLGVDALG
LHIYDPENRLTPKISFPWNEIRNISYSDKEFTIKPLDKKIDVFKFNSSKLRVNKLILQLC
IGNHDLFMRRRKADSLEVQQMKAQAREEKARKQMERQRLAREKQMREEAERTRDELERRL
LQMKEEATMANEALMRSEETADLLAEKAQITEEEAKLLAQKAAEAEQEMQRIKATAIRTE
EEKRLMEQKVLEAEVLALKMAEESERRAKEADQLKQDLQEAREAERRAKQKLLEIATKPT
YPPMNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEIEKEKVEYMEKSKHLQEQLN
ELKTEIEALKLKERETALDILHNENSDRGGSSKHNTIKKLTLQSAKSRVAFFEEL



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