KEGG   Homo sapiens (human): 285590
Entry
285590            CDS       T01001                                 

Gene name
SH3PXD2B, FAD49, FTHS, HOFI, KIAA1295, TKS4, TSK4
Definition
(RefSeq) SH3 and PX domains 2B
  KO
K24032  SH3 and PX domain-containing protein 2
Organism
hsa  Homo sapiens (human)
Disease
H01816  Frank-ter Haar syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    285590 (SH3PXD2B)
Membrane trafficking [BR:hsa04131]
 Others
  NADPH oxidases (Nox) and associated proteins
   Nox associated proteins
    285590 (SH3PXD2B)
SSDB
Motif
Pfam: SH3_1 SH3_9 SH3_2 PX SH3_3
Other DBs
NCBI-GeneID: 285590
NCBI-ProteinID: NP_001017995
OMIM: 613293
HGNC: 29242
Ensembl: ENSG00000174705
Vega: OTTHUMG00000163280
Pharos: A1X283(Tbio)
UniProt: A1X283
Position
5q35.1
AA seq 911 aa
MPPRRSIVEVKVLDVQKRRVPNKHYVYIIRVTWSSGSTEAIYRRYSKFFDLQMQMLDKFP
MEGGQKDPKQRIIPFLPGKILFRRSHIRDVAVKRLIPIDEYCKALIQLPPYISQCDEVLQ
FFETRPEDLNPPKEEHIGKKKSGGDQTSVDPMVLEQYVVVANYQKQESSEISLSVGQVVD
IIEKNESGWWFVSTAEEQGWVPATCLEGQDGVQDEFSLQPEEEEKYTVIYPYTARDQDEM
NLERGAVVEVIQKNLEGWWKIRYQGKEGWAPASYLKKNSGEPLPPKPGPGSPSHPGALDL
DGVSRQQNAVGREKELLSSQRDGRFEGRPVPDGDAKQRSPKMRQRPPPRRDMTIPRGLNL
PKPPIPPQVEEEYYTIAEFQTTIPDGISFQAGLKVEVIEKNLSGWWYIQIEDKEGWAPAT
FIDKYKKTSNASRPNFLAPLPHEVTQLRLGEAAALENNTGSEATGPSRPLPDAPHGVMDS
GLPWSKDWKGSKDVLRKASSDMSASAGYEEISDPDMEEKPSLPPRKESIIKSEGELLERE
RERQRTEQLRGPTPKPPGVILPMMPAKHIPPARDSRRPEPKPDKSRLFQLKNDMGLECGH
KVLAKEVKKPNLRPISKSKTDLPEEKPDATPQNPFLKSRPQVRPKPAPSPKTEPPQGEDQ
VDICNLRSKLRPAKSQDKSLLDGEGPQAVGGQDVAFSRSFLPGEGPGRAQDRTGKQDGLS
PKEISCRAPPRPAKTTDPVSKSVPVPLQEAPQQRPVVPPRRPPPPKKTSSSSRPLPEVRG
PQCEGHESRAAPTPGRALLVPPKAKPFLSNSLGGQDDTRGKGSLGPWGTGKIGENREKAA
AASVPNADGLKDSLYVAVADFEGDKDTSSFQEGTVFEVREKNSSGWWFCQVLSGAPSWEG
WIPSNYLRKKP
NT seq 2736 nt   +upstreamnt  +downstreamnt
atgccgccgcggcgcagcatcgtggaggtgaaggtgctagacgtgcagaagcggcgggtg
cccaacaagcattatgtctacatcatccgggtcacgtggtccagcggctccaccgaggcc
atttaccggcgctacagcaagttttttgacctccagatgcagatgttggacaaatttccc
atggaaggaggacagaaggaccccaagcagcggatcatcccctttctgccaggtaagatt
ctcttcagacgaagccacatccgggacgtggctgtcaaacgcctgataccaattgatgaa
tactgtaaggccctcatccagctgcccccctacatctctcagtgtgatgaggtgctgcag
ttctttgagacaagacctgaggacctgaatccccccaaagaggagcacattgggaaaaag
aaatctgggggtgaccaaacctcagtggaccccatggtcctggagcagtatgtggtggta
gccaactaccagaagcaggagagttcggagatcagcctcagcgtggggcaggtggtggac
atcatcgagaagaatgagtcaggttggtggttcgtcagcactgccgaggagcaaggctgg
gtccctgcaacgtgcctcgaaggccaggatggggtgcaggatgagttttctctgcagcct
gaagaagaggagaagtacacagtcatctacccgtacacagctcgggaccaggatgaaatg
aacctggagagaggggctgtggtggaggtcatccagaaaaacctggaaggctggtggaag
atcaggtaccagggcaaagaaggctgggcccccgcctcctacctaaagaagaacagtggg
gagcccttgcccccgaagccaggccctggctcaccctcccacccgggtgcccttgacttg
gatggtgtttcccggcagcagaacgcggtgggcagggagaaggagctgctcagcagccag
agggacgggcggtttgaaggccgcccggtgcccgacggtgacgccaagcagagatcacca
aagatgaggcagagaccccctcctcgccgggacatgaccattcctcgaggcctcaacctg
ccgaagccgcccatcccgccccaagtggaggaagagtattacaccatcgccgaattccag
acaaccatcccagacggcatcagcttccaggcaggcctgaaggtcgaggtgatcgagaaa
aacttgagtggctggtggtacattcagattgaagataaggaagggtgggccccggccacc
ttcattgacaagtacaagaagacgagcaacgcgtcgagacccaactttctggctcccctg
ccccacgaggtgacccagctccggctgggggaagcagcagcgctggagaacaacacgggc
agcgaagccacgggcccctcccggcccctgcctgacgcaccgcatggtgtcatggactcg
gggttgccatggtctaaagactggaagggcagtaaggatgtcctgaggaaggcatcttca
gacatgtctgcgtcagcaggctacgaggagatctcagaccccgacatggaggagaagccc
agcctccctccgcggaaagaatccatcatcaagtcggagggggagctgctggagcgggag
cgggagcggcagaggacggagcagctccggggccccactcccaagcctccgggcgtgatt
ttgccgatgatgccagccaaacacatccctccagcccgggacagcaggaggccagagccc
aaacctgacaaaagcagactgttccagctgaaaaatgacatggggctggagtgtggccac
aaggtcttggccaaggaagtgaagaagcccaacctccggcccatctccaaatccaaaact
gacctgccagaggagaagccagatgccactccccagaatcccttcttgaagtccagacct
caggttaggccaaaaccagctccttcccccaaaacggagccacctcagggcgaagaccaa
gtcgacatctgcaacctcaggagtaagctcaggcctgccaagtcccaagacaagtccttg
ttggatggggagggcccccaggcagtagggggccaagacgtggccttcagccgaagcttc
ctcccaggagaggggcctggccgcgcccaggacaggacgggcaaacaggatggtctcagc
ccaaaagagatttcctgcagagcccctccgaggccagccaagaccacagatcctgtgtct
aagagcgtgcctgttcctctccaagaggctccccagcagagacctgtggtcccaccccgc
agaccacctcccccaaagaaaacctcttcgtcatccaggccgctcccagaggtcagaggt
ccacagtgtgaaggccacgaaagcagggcagctcccaccccaggccgtgctctcctcgtc
cctccaaaagccaaaccttttctctccaactctttggggggccaggatgacacgcgaggc
aaaggcagcctggggccatgggggaccggcaagattggagaaaacagggagaaagcagct
gcagcctctgtccccaatgccgacggcctgaaggactctttgtatgtggccgtggccgac
tttgaaggagacaaagacaccagcagcttccaggaagggacagtgtttgaagtccgggag
aagaacagcagtggctggtggttctgccaggtcctgagcggagccccttcctgggaaggg
tggattccttccaactatctcagaaagaagccgtag

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