KEGG   Homo sapiens (human): 9750
Entry
9750              CDS       T01001                                 
Symbol
RIPOR2, C6orf32, DFNA21, DFNB104, DIFF40, DIFF48, FAM65B, MYONAP, PL48
Name
(RefSeq) RHO family interacting cell polarization regulator 2
  KO
K24818  Rho family-interacting cell polarization regulator
Organism
hsa  Homo sapiens (human)
Disease
H00605  Deafness, autosomal recessive
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    9750 (RIPOR2)
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    9750 (RIPOR2)
Cilium and associated proteins [BR:hsa03037]
 Other cilia and associated proteins
  Stereociliary proteins
   9750 (RIPOR2)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Other domain-containing proteins
  HEAT repeat domain-containing proteins
   9750 (RIPOR2)
SSDB
Motif
Pfam: PL48 HEAT_2 Not3
Other DBs
NCBI-GeneID: 9750
NCBI-ProteinID: NP_055537
OMIM: 611410
HGNC: 13872
Ensembl: ENSG00000111913
UniProt: Q9Y4F9 B7Z5J9
Position
6:complement(24804284..25042168)
AA seq 1068 aa
MLVGSQSFSPGGPNGIIRSQSFAGFSGLQERRSRCNSFIENSSALKKPQAKLKKMHNLGH
KNNNPPKEPQPKRVEEVYRALKNGLDEYLEVHQTELDKLTAQLKDMKRNSRLGVLYDLDK
QIKTIERYMRRLEFHISKVDELYEAYCIQRRLQDGASKMKQAFATSPASKAARESLTEIN
RSFKEYTENMCTIEVELENLLGEFSIKMKGLAGFARLCPGDQYEIFMKYGRQRWKLKGKI
EVNGKQSWDGEETVFLPLIVGFISIKVTELKGLATHILVGSVTCETKELFAARPQVVAVD
INDLGTIKLNLEITWYPFDVEDMTASSGAGNKAAALQRRMSMYSQGTPETPTFKDHSFFR
WLHPSPDKPRRLSVLSALQDTFFAKLHRSRSFSDLPSLRPSPKAVLELYSNLPDDIFENG
KAAEEKMPLSLSFSDLPNGDCALTSHSTGSPSNSTNPEITITPAEFNLSSLASQNEGMDD
TSSASSRNSLGEGQEPKSHLKEEDPEEPRKPASAPSEACRRQSSGAGAEHLFLENDVAEA
LLQESEEASELKPVELDTSEGNITKQLVKRLTSAEVPMATDRLLSEGSVGGESEGCRSFL
DGSLEDAFNGLLLALEPHKEQYKEFQDLNQEVMNLDDILKCKPAVSRSRSSSLSLTVESA
LESFDFLNTSDFDEEEDGDEVCNVGGGADSVFSDTETEKHSYRSVHPEARGHLSEALTED
TGVGTSVAGSPLPLTTGNESLDITIVRHLQYCTQLVQQIVFSSKTPFVARSLLEKLSRQI
QVMEKLAAVSDENIGNISSVVEAIPEFHKKLSLLSFWTKCCSPVGVYHSPADRVMKQLEA
SFARTVNKEYPGLADPVFRTLVSQILDRAEPLLSSSLSSEVVTVFQYYSYFTSHGVSDLE
SYLSQLARQVSMVQTLQSLRDEKLLQTMSDLAPSNLLAQQEVLRTLALLLTREDNEVSEA
VTLYLAAASKNQHFREKALLYYCEALTKTNLQLQKAACLALKILEATESIKMLVTLCQSD
TEEIRNVASETLLSLGEDGRLAYEQLDKFPRDCVKVGGRHGTEVATAF
NT seq 3207 nt   +upstreamnt  +downstreamnt
atgttggtaggatcccagtctttttcgcctggagggcccaatgggatcattagaagccag
tcctttgcgggtttcagcggcctccaggaaaggcgatccaggtgtaactccttcattgaa
aattcctccgctctcaagaagcctcaggccaaactgaagaaaatgcacaatttaggccac
aaaaacaacaatccccccaaagagcctcagcctaaaagggtggaagaagtctacagggcc
ttgaaaaatggacttgatgaatatctggaggttcaccagacggagctggacaagttgaca
gctcagttaaaagatatgaaaagaaactctcgcctgggtgtactgtatgacctagacaag
caaattaaaacaattgaaagatacatgagacgcctggagtttcatataagtaaggtagat
gaactctatgaagcttattgtatccagcgacgcctccaggatggtgccagcaaaatgaag
caagccttcgcaacatcccctgccagcaaagctgcccgggagagtctgacagagatcaat
cggagcttcaaggagtacacagagaatatgtgcaccattgaagtggagctagagaatctg
ctgggagaattctccatcaagatgaaaggtctggctggctttgcacgcctctgtcctgga
gatcaatatgaaattttcatgaagtatggccggcagcggtggaaactgaaaggcaaaata
gaagtaaatggcaagcagagctgggatggagaagaaacagtttttctgcccctgatagtt
gggttcatctccatcaaggtcacggagctcaaagggctagcaactcacatcctggtaggt
agcgtgacctgtgagaccaaagagctgtttgcagcccgacctcaggtagtggctgtcgac
atcaatgaccttggtaccatcaaactgaacctggaaatcacctggtatccatttgacgtg
gaggacatgaccgcatcctcaggcgctgggaacaaggcagcagcccttcagaggagaatg
tccatgtacagccagggtaccccggaaacgcccaccttcaaagaccactccttctttagg
tggctgcatccttccccagacaagcccaggcggctgtctgtcttgagtgccttgcaagac
actttctttgccaagctgcaccgcagccgctccttcagtgacctgccctccctcaggccg
agtcccaaggccgtgctagagctctattcaaatctacctgatgacatctttgaaaatgga
aaggcagccgaggagaaaatgccactgtcgctcagcttcagtgacctgcccaacggggac
tgcgccctcacctcccactcaacaggctccccttccaactcaacaaatccagaaattacc
atcacccctgcggagtttaacctcagcagcttggcctcccagaatgagggtatggatgac
accagctcagcatcttccaggaactccctgggagaaggccaagagccaaagtcacacctg
aaggaggaagacccagaggagcccagaaaacctgcctcggccccatctgaggcttgccgc
cgacagtcctcaggtgctggggctgagcacctgttccttgagaatgatgttgcagaagca
cttctgcaagagtctgaggaggcctctgagctcaagcctgtggaactggacacttcggaa
ggaaacatcacaaagcagctggtcaagaggctcacatctgcagaggtgccaatggccaca
gacaggctgctctctgagggttctgttggtggagaatctgaaggctgcagatcctttcta
gatggaagcttagaggatgcttttaatgggcttttacttgcattagaaccacataaagag
cagtataaagagtttcaggatctgaaccaagaagtcatgaatttggatgatattctaaaa
tgcaagccagcagtaagccgcagcaggtcttccagtttaagtctcacagttgaaagtgct
ttagaaagctttgatttcctgaacacctctgattttgacgaggaggaggatggtgatgag
gtttgtaatgttggcggaggtgctgactcagtattttcagacactgagactgagaaacac
agttacaggtcggttcacccagaagccagggggcatctcagtgaagcgctcactgaagac
acaggagttgggaccagtgtggcaggaagtcctctcccactgaccacaggcaacgagagc
ctggacatcaccatcgtcaggcacctccagtactgcacccaactcgtgcagcaaattgtt
ttctcaagcaaaaccccatttgtggcaagaagtctcttagagaagctttctaggcagatc
caagtgatggagaaactcgcagctgtcagtgatgagaacataggaaatatcagttctgtt
gtggaagccataccagaatttcacaaaaagctgtctttgctgtcattctggaccaagtgc
tgcagccctgttggtgtctaccacagcccagcggacagagtgatgaagcagctggaggcc
agctttgccagaactgtcaacaaagaatatccaggacttgcagacccagtgtttcgaacc
ctggtgtcccaaattctggaccgggctgagcctctgctttcctccagcctgtcctcggaa
gtcgtcactgttttccagtattacagttacttcaccagccacggcgtcagtgacctggag
agttacctgagccagctggccaggcaagtttccatggttcagactctgcaatcactaaga
gatgaaaaactgctacaaaccatgagtgaccttgctcccagcaacctcctggcccagcag
gaagtactcaggactctggctctgctattaaccagagaggacaacgaagttagtgaggct
gtgacgctttacttggcagcagcctccaaaaatcagcatttcagggaaaaggccttgctc
tattactgtgaagcactaacaaagacaaacctccagctccagaaagcagcttgcctggct
ctgaaaatccttgaggctactgaaagcattaaaatgctggtgacattgtgtcaatctgat
actgaagaaatcagaaatgtggcctcagaaaccctcttgtctctgggagaagatgggcgg
ctggcatatgaacaattggacaaatttcctcgagactgtgttaaagtcggaggtcgtcat
ggaactgaagttgccacagccttttaa

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Disease (4)   
   KEGG DISEASE (1)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (25)   
   KEGG ORTHOLOGY (1)   
   RefGene (10)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (9)   
   OC (1)   
Protein sequence (30)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (27)   
DNA sequence (57)   
   RefSeq(nuc) (27)   
   GenBank (15)   
   EMBL (15)   
Protein domain (3)   
   Pfam (3)   
All databases (123)   

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