KEGG   Homo sapiens (human): 153562
Entry
153562            CDS       T01001                                 

Gene name
MARVELD2, DFNB49, MARVD2, MRVLDC2, Tric
Definition
(RefSeq) MARVEL domain containing 2
  KO
K17291  MARVEL domain-containing protein 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04530  Tight junction
Disease
H00605  Deafness, autosomal recessive
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04530 Tight junction
    153562 (MARVELD2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    153562 (MARVELD2)
   04147 Exosome [BR:hsa04147]
    153562 (MARVELD2)
Transporters [BR:hsa02000]
 Other transporters
  Others
   153562 (MARVELD2)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of breast cancer cells
   153562 (MARVELD2)
SSDB
Motif
Pfam: Occludin_ELL MARVEL MAP17 Peptidase_S49_N
Other DBs
NCBI-GeneID: 153562
NCBI-ProteinID: NP_001033692
OMIM: 610572
HGNC: 26401
Ensembl: ENSG00000152939
Vega: OTTHUMG00000162512
Pharos: Q8N4S9(Tbio)
UniProt: Q8N4S9
LinkDB
Structure
PDB: 
5N7H 5N7K 5N7I

Position
5q13.2
AA seq 558 aa
MSNDGRSRNRDRRYDEVPSDLPYQDTTIRTHPTLHDSERAVSADPLPPPPLPLQPPFGPD
FYSSDTEEPAIAPDLKPVRRFVPDSWKNFFRGKKKDPEWDKPVSDIRYISDGVECSPPAS
PARPNHRSPLNSCKDPYGGSEGTFSSRKEADAVFPRDPYGSLDRHTQTVRTYSEKVEEYN
LRYSYMKSWAGLLRILGVVELLLGAGVFACVTAYIHKDSEWYNLFGYSQPYGMGGVGGLG
SMYGGYYYTGPKTPFVLVVAGLAWITTIIILVLGMSMYYRTILLDSNWWPLTEFGINVAL
FILYMAAAIVYVNDTNRGGLCYYPLFNTPVNAVFCRVEGGQIAAMIFLFVTMIVYLISAL
VCLKLWRHEAARRHREYMEQQEINEPSLSSKRKMCEMATSGDRQRDSEVNFKELRTAKMK
PELLSGHIPPGHIPKPIVMPDYVAKYPVIQTDDERERYKAVFQDQFSEYKELSAEVQAVL
RKFDELDAVMSRLPHHSESRQEHERISRIHEEFKKKKNDPTFLEKKERCDYLKNKLSHIK
QRIQEYDKVMNWDVQGYS
NT seq 1677 nt   +upstreamnt  +downstreamnt
atgtcaaatgatggaagatccaggaatcgggacaggcgctacgatgaggtcccaagcgac
ctgccctatcaagataccaccataagaacccacccaactcttcatgacagtgagcgggca
gtgagcgctgatcccttgccaccaccccctctcccattacagccaccattcggcccagac
ttctactcaagtgacacagaagaaccagctatagcgccagatctcaaaccagtaaggcgc
tttgtccctgactcctggaagaactttttcagagggaagaaaaaggaccccgaatgggat
aagccggtgtctgatatcaggtacatctccgatggagtggagtgttcaccaccagcctct
ccagcaagaccaaaccaccgttcgcccctcaactcctgcaaagatccctacggagggtca
gaaggaacctttagttcccggaaagaggctgacgcagtgtttccccgggatccctatgga
tctctagaccgacacacacaaacagttcgaacatacagtgagaaggtggaggagtataac
ctgagatactcctacatgaagtcgtgggcaggcctgctgagaatactgggtgtggtggag
ctgcttttgggggccggtgtctttgcttgtgtcacagcttacattcacaaggacagtgag
tggtacaacttgtttggatattcacaaccgtatggcatgggaggcgttggtggattgggc
agtatgtatgggggctattactacactggccctaagaccccttttgtactcgtggttgct
ggattagcttggatcaccaccattattattctggttcttggcatgtccatgtattaccgg
accattcttctggactctaattggtggcccctaactgaatttggaattaacgttgccttg
tttattttgtatatggccgcagccatagtctatgtgaatgataccaaccgaggtggcctc
tgctactatccgttatttaatacaccagtgaatgcagtgttctgccgggtagaaggagga
cagatagctgcaatgatcttcctgtttgtcaccatgatagtttatctcattagtgctttg
gtttgcctaaagttatggaggcatgaggcagctcggagacatagagaatatatggaacaa
caggagataaatgagccatcattgtcatcgaaaaggaaaatgtgtgaaatggccaccagt
ggtgacagacaaagagactcagaagttaatttcaaggaactgagaacagcaaaaatgaaa
cctgaactactgagtggacacatccccccaggccacattcctaaacctatcgtgatgccc
gactatgtggcaaaataccctgtgattcagacagatgatgagcgagaacgctataaagct
gtgttccaagaccagttttcagagtacaaagagctgtctgcagaagttcaggctgtcctg
aggaagtttgatgagctggatgcagtgatgagcagattgccacatcattcggaaagccga
caggaacatgagagaatttcaagaatccatgaagagtttaagaaaaaaaagaatgatcct
acatttctggaaaaaaaagaacgctgtgattacctaaagaataaactttctcacataaag
caaagaattcaagaatatgataaagtaatgaattgggatgtacaaggttattcttaa

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