KEGG   Homo sapiens (human): 9853
Entry
9853              CDS       T01001                                 
Symbol
RUSC2, Iporin, MRT61
Name
(RefSeq) RUN and SH3 domain containing 2
  KO
K23291  iporin
Organism
hsa  Homo sapiens (human)
Disease
H00768  Autosomal recessive intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    9853 (RUSC2)
Membrane trafficking [BR:hsa04131]
 Endoplasmic reticulum (ER) - Golgi transport
  Forward pathways
   Rab associated proteins
    9853 (RUSC2)
SSDB
Motif
Pfam: RUN SH3_2 SH3_9 SH3_1
Other DBs
NCBI-GeneID: 9853
NCBI-ProteinID: NP_001129471
OMIM: 611053
HGNC: 23625
Ensembl: ENSG00000198853
UniProt: Q8N2Y8
Structure
Position
9:35490111..35561895
AA seq 1516 aa
MDSPPKLTGETLIVHHIPLVHCQVPDRQCCGGAGGGGGSTRPNPFCPPELGITQPDQDLG
QADSLLFSSLHSTPGGTARSIDSTKSRSRDGRGPGAPKRHNPFLLQEGVGEPGLGDLYDD
SIGDSATQQSFHLHGTGQPNFHLSSFQLPPSGPRVGRPWGTTRSRAGVVEGQEQEPVMTL
DTQQCGTSHCCRPELEAETMELDECGGPGGSGSGGGASDTSGFSFDQEWKLSSDESPRNP
GCSGSGDQHCRCSSTSSQSEAADQSMGYVSDSSCNSSDGVLVTFSTLYNKMHGTPRANLN
SAPQSCSDSSFCSHSDPGAFYLDLQPSPFESKMSYESHHPESGGREGGYGCPHASSPELD
ANCNSYRPHCEPCPAVADLTACFQSQARLVVATQNYYKLVTCDLSSQSSPSPAGSSITSC
SEEHTKISPPPGPGPDPGPSQPSEYYLFQKPEVQPEEQEAVSSSTQAAAAVGPTVLEGQV
YTNTSPPNLSTGRQRSRSYDRSLQRSPPVRLGSLERMLSCPVRLSEGPAAMAGPGSPPRR
VTSFAELAKGRKKTGGSGSPPLRVSVGDSSQEFSPIQEAQQDRGAPLDEGTCCSHSLPPM
PLGPGMDLLGPDPSPPWSTQVCQGPHSSEMPPAGLRATGQGPLAQLMDPGPALPGSPANS
HTQRDARARADGGGTESRPVLRYSKEQRPTTLPIQPFVFQHHFPKQLAKARALHSLSQLY
SLSGCSRTQQPAPLAAPAAQVSVPAPSGEPQASTPRATGRGARKAGSEPETSRPSPLGSY
SPIRSVGPFGPSTDSSASTSCSPPPEQPTATESLPPWSHSCPSAVRPATSQQPQKEDQKI
LTLTEYRLHGTGSLPPLGSWRSGLSRAESLARGGGEGSMATRPSNANHLSPQALKWREYR
RKNPLGPPGLSGSLDRRSQEARLARRNPIFEFPGSLSAASHLNCRLNGQAVKPLPLTCPD
FQDPFSLTEKPPAEFCLSPDGSSEAISIDLLQKKGLVKAVNIAVDLIVAHFGTSRDPGVK
AKLGNSSVSPNVGHLVLKYLCPAVRAVLEDGLKAFVLDVIIGQRKNMPWSVVEASTQLGP
STKVLHGLYNKVSQFPELTSHTMRFNAFILGLLNIRSLEFWFNHLYNHEDIIQTHYQPWG
FLSAAHTVCPGLFEELLLLLQPLALLPFSLDLLFQHRLLQSGQQQRQHKELLRVSQDLLL
SAHSTLQLARARGQEGPGDVDRAAQGERVKGVGASEGGEEEEEEEETEEVAEAAGGSGRA
RWARGGQAGWWYQLMQSSQVYIDGSIEGSRFPRGSSNSSSEKKKGAGGGGPPQAPPPREG
VVEGAEACPASEEALGRERGWPFWMGSPPDSVLAELRRSREREGPAASPAENEEGASEPS
PGGIKWGHLFGSRKAQREARPTNRLPSDWLSLDKSMFQLVAQTVGSRREPEPKESLQEPH
SPALPSSPPCEVQALCHHLATGPGQLSFHKGDILRVLGRAGGDWLRCSRGPDSGLVPLAY
VTLTPTPSPTPGSSQN
NT seq 4551 nt   +upstreamnt  +downstreamnt
atggatagtcccccaaagctgactggagagaccctcatcgttcatcacatccccctggtg
cactgccaagtcccagacaggcagtgctgtggaggggcaggtggaggtggtgggagcaca
agacctaatcccttctgcccacctgagctgggcatcacccagcccgatcaagacctagga
caagctgactccctgctattcagcagcctgcactctactccaggaggaactgcacggtct
atagacagcaccaagagtaggagtcgggatggaagaggccctggagcccccaaacgacac
aaccccttcttgctgcaggagggtgtgggtgagccaggacttggtgacctgtatgatgac
agcattggtgacagtgccacccagcagtccttccacctgcatggcactggccagcccaac
tttcatctatcctctttccagctgccaccatctggccccagagtgggcaggccatggggg
acaacacgcagtcgggctggagtggtggaagggcaggaacaggagccagtgatgaccttg
gatactcagcagtgcggcaccagccactgctgccggccagagctggaagcagagactatg
gagctggatgagtgtgggggacctggtgggagtggcagtgggggtggagccagcgatacc
tctggcttttcctttgaccaggaatggaagctcagttcagatgaatccccaaggaaccct
ggatgctccggctcaggggaccagcactgccgctgcagtagcacatccagtcagtccgag
gcagctgaccagtccatgggctatgtgagcgactcctcctgcaacagttcagatggtgtg
ctggtcaccttcagcaccctctacaacaagatgcatggcaccccccgtgccaatctcaac
tctgccccacagtcctgcagcgactcttccttctgcagccactcagaccctggcgccttc
tatctggatctgcagccctccccatttgagtctaagatgtcttatgagtcccatcaccct
gaaagtggaggaagggaagggggctatggttgccctcatgcctcttctcctgagcttgat
gccaactgcaactcctaccgcccacactgtgagccgtgcccagcagtggctgacctcaca
gcctgcttccaaagccaggcccgtcttgttgtggccacacaaaattactataaacttgtc
acctgtgacctatcttcccaatcatccccaagccctgctggctcttccatcactagctgc
tctgaggaacacaccaagataagtcccccaccaggccctggcccagacccaggccccagc
cagccctctgagtattacctattccagaagccagaagtccagccagaggaacaagaagca
gtgagttcctccacccaagcagcagctgctgtgggccccactgtgcttgagggacaagta
tacacgaatacttcaccccccaacctcagcactggacgtcagcgctcccgcagctatgat
cgcagcctgcagcgcagccctcctgtccgcctgggctcgctggaacgtatgttgagttgc
ccagtgcgcttgagtgagggccctgcagccatggccgggcctggctccccacccaggagg
gtcacctcctttgccgagctggccaagggccggaagaaaactggaggctctggctcgccc
ccacttcgtgtgagtgttggggactcctcccaggagttctcacccatccaagaagcccag
caagatcggggggccccactggatgagggcacttgctgtagccatagcctgccacccatg
cctttggggccaggcatggacctacttggcccagacccaagtccaccctggtccacccag
gtctgtcagggaccccactccagtgagatgcctcctgctggcctcagagctactgggcaa
ggccccctggctcagctgatggatccagggcctgctctcccagggagcccagccaacagc
catacccagagggatgcaagagctagagctgacgggggtggcaccgagagccgaccagtc
cttcgctacagcaaggaacagaggccaaccacactgcccatccagcccttcgtgttccag
caccacttccccaagcagctggccaaggcccgggccctccacagcctttcccagctctac
agcctctcaggctgcagccgtacacagcagcctgccccactggctgcccctgctgctcaa
gtctcagtcccagctccctcaggggaaccgcaggcatccactccccgagccactggcaga
ggtgccaggaaagctgggtctgagccagagacctctcggccatcgcccctgggcagctac
tcccccatccggagtgttggcccctttgggcccagcactgactcttctgcctccacttcg
tgctcccctcccccagagcagcccacagccacagaaagcctgcccccatggagccactcc
tgtccttctgctgtccggcctgccacctcccagcagccgcagaaggaggatcagaagata
ctgaccttgactgagtaccggctccatggaacaggaagcttgccgcctctgggctcctgg
cgatctggcctcagccgagcagagagcctggcccggggaggtggtgagggcagcatggcc
accaggcccagtaatgccaaccacctatcccctcaagccctcaagtggcgggaatacagg
aggaagaacccactagggccacctggtttgtcagggagcctagaccgaagatcacaagaa
gctcggctggcccgaagaaaccctatctttgagttccctggctccctcagtgctgccagc
catctgaactgccggctgaatggccaagcagtgaagccgttaccactgacctgccctgac
ttccaggaccccttttccttgacggagaagcctccagctgagttttgtctgtccccagat
ggcagctcagaggccatttccattgacctgcttcagaaaaaagggctggtaaaagctgtt
aacatcgctgtggacctcattgtggctcattttggcacaagccgggatcccggggtgaag
gcaaagctgggaaacagttctgtgagccccaatgtgggccacctggttctgaagtacttg
tgccctgccgtccgcgccgtgctggaggatgggctcaaggcctttgtactggacgtcatc
atcgggcagcgtaagaacatgccatggagtgtggttgaggcttccacacagctaggccca
tccaccaaggtcctgcatggcctctacaacaaagtcagccaattcccagagctcaccagt
cataccatgcgcttcaacgccttcatcctcggcctgctcaacatccggtccctggagttc
tggtttaatcacctctataaccacgaagacatcatccagacccactaccagccctggggc
ttcctgagtgcagctcataccgtgtgtcccggcctctttgaagagctgctgctgctgcta
cagcccctggccctgctgcccttcagcctcgacttgctgttccagcaccggctgctgcaa
agtgggcagcagcagcggcagcacaaggaactgctgcgggtgtcccaggacctgctgctg
tctgcccactccacgctgcagctggcccgggcccggggccaggagggccctggagacgtg
gacagggcagcccaaggggagcgggtgaagggtgtgggtgcctcagaaggtggagaagag
gaagaggaagaagaggagacagaagaggtggcagaggcagccgggggctcagggcgtgcc
aggtgggcccgaggtgggcaggccggctggtggtaccagctcatgcagagctcccaggtc
tacatcgatggctccattgagggttccaggttccctcgtggtagcagcaacagcagcagc
gagaaaaagaaaggggcaggaggtgggggacctccccaggctccaccaccccgagaggga
gtagtggagggggctgaggcctgccctgcctctgaggaggccctgggccgggaaaggggc
tggcccttctggatggggagcccccctgactctgtgctggccgagctgaggcgcagtcgg
gagagggaagggcccgctgcctcgccagcagaaaatgaggaaggggcctcagagccttca
cctggaggcatcaagtggggacacctctttggctcccgaaaagcccagcgggaggcccgg
cccacaaataggctcccctcggactggctgagcctggacaagtccatgttccaactagtg
gcgcagacagtgggttcccgccgggagccagagcccaaggagagcctgcaggagccacac
tccccagccctgccctccagtcctccgtgtgaggtgcaggcactgtgccaccacctggcc
accggccctggacagctgagcttccacaaaggagacatcctacgagtgctggggcgagct
ggaggagactggctgcgctgcagccgtggccccgactctggcctggtgcccctggcctac
gtgacattgaccccaactccaagtccaacccctggaagcagccaaaactga

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