KEGG   Homo sapiens (human): 27130
Entry
27130             CDS       T01001                                 
Symbol
INVS, INV, NPH2, NPHP2
Name
(RefSeq) inversin isoform a
  KO
K19626  inversin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04310  Wnt signaling pathway
Disease
H00537  Nephronophthisis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04310 Wnt signaling pathway
    27130 (INVS)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    27130 (INVS)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Nephronophthisis-related proteins
   27130 (INVS)
SSDB
Motif
Pfam: Ank_2 Ank Ank_4 Ank_3 Ank_5 Ank_KRIT1 IQ IQ_SCN5A_C ANK_LRRK2 IQCJ-SCHIP1
Other DBs
NCBI-GeneID: 27130
NCBI-ProteinID: NP_055240
OMIM: 243305
HGNC: 17870
Ensembl: ENSP00000262457.2
UniProt: Q9Y283
LinkDB
Position
9:100099243..100302175
AA seq 1065 aa
MNKSENLLFAGSSLASQVHAAAVNGDKGALQRLIVGNSALKDKEDQFGRTPLMYCVLADR
LDCADALLKAGADVNKTDHSQRTALHLAAQKGNYRFMKLLLTRRANWMQKDLEEMTPLHL
TTRHRSPKCLALLLKFMAPGEVDTQDKNKQTALHWSAYYNNPEHVKLLIKHDSNIGIPDV
EGKIPLHWAANHKDPSAVHTVRCILDAAPTESLLNWQDYEGRTPLHFAVADGNVTVVDVL
TSYESCNITSYDNLFRTPLHWAALLGHAQIVHLLLERNKSGTIPSDSQGATPLHYAAQSN
FAETVKVFLKHPSVKDDSDLEGRTSFMWAAGKGSDDVLRTMLSLKSDIDINMADKYGGTA
LHAAALSGHVSTVKLLLENNAQVDATDVMKHTPLFRACEMGHKDVIQTLIKGGARVDLVD
QDGHSLLHWAALGGNADVCQILIENKINPNVQDYAGRTPLQCAAYGGYINCMAVLMENNA
DPNIQDKEGRTALHWSCNNGYLDAIKLLLDFAAFPNQMENNEERYTPLDYALLGERHEVI
QFMLEHGALSIAAIQDIAAFKIQAVYKGYKVRKAFRDRKNLLMKHEQLRKDAAAKKREEE
NKRKEAEQQKGRRSPDSCRPQALPCLPSTQDVPSRQSRAPSKQPPAGNVAQGPEPRDSRG
SPGGSLGGALQKEQHVSSDLQGTNSRRPNETAREHSKGQSACVHFRPNEGSDGSRHPGVP
SVEKSRGETAGDERCAKGKGFVKQPSCIRVAGPDEKGEDSRRAAASLPPHDSHWKPSRRH
DTEPKAKCAPQKRRTQELRGGRCSPAGSSRPGSARGEAVHAGQNPPHHRTPRNKVTQAKL
TGGLYSHLPQSTEELRSGARRLETSTLSEDFQVSKETDPAPGPLSGQSVNIDLLPVELRL
QIIQRERRRKELFRKKNKAAAVIQRAWRSYQLRKHLSHLRHMKQLGAGDVDRWRQESTAL
LLQVWRKELELKFPQTTAVSKAPKSPSKGTSGTKSTKHSVLKQIYGCSHEGKIHHPTRSV
KASSVLRLNSVSNLQCIHLLENSGRSKNFSYNLQSATQPKNKTKP
NT seq 3198 nt   +upstreamnt  +downstreamnt
atgaacaagtcagagaacctgctgtttgctggttcatcattagcatcacaagtccatgct
gctgccgttaatggagataagggtgctctacagaggctcatcgtaggaaactctgctctt
aaagacaaagaagatcagtttgggagaacaccacttatgtattgcgtgttggctgacaga
ttggattgtgcagatgctcttctgaaggcaggagcagatgtgaataaaactgaccatagc
cagagaacagccctccatcttgcagcccagaagggaaattatcgtttcatgaaactctta
cttacacgcagagcaaactggatgcaaaaggatctggaagagatgactcctttgcacttg
accacccggcacaggagccctaagtgtttggcacttctgctgaagtttatggcaccagga
gaagtggatacacaggataaaaacaagcaaacagctctgcattggagtgcctactacaat
aaccctgagcatgtgaagctgctcatcaagcatgattctaacattgggattcctgatgtt
gaaggcaagatcccacttcactgggcagccaaccataaagatccaagtgctgttcacaca
gtgagatgcattctggatgctgctccaacagagtctttactgaactggcaagactacgag
ggtcgaactcctcttcactttgcagttgctgatgggaatgtgaccgtggttgatgtcttg
acctcatatgaaagctgcaatataacgtcttatgataacttatttcgaaccccactgcac
tgggcagctttattaggccatgcacagattgtccatctccttttagaaagaaataagtct
ggaactatcccatctgacagccaaggagccacacctttgcactatgctgctcagagtaac
tttgctgaaacggttaaagtgtttttaaaacatccttcagtgaaagatgattcagacctg
gaaggaagaacatcctttatgtgggcagctggcaaaggcagtgatgatgtccttagaact
atgctgagcttaaaatcggacatagatattaacatggctgacaaatatggaggtacagct
ttgcatgctgctgctctttctggccatgtcagcaccgtgaagttattactggaaaataat
gctcaagtagatgctactgatgttatgaaacatactccacttttccgagcctgtgagatg
ggacacaaagatgtgattcagacactcattaaaggtggagcaagggtagatctagttgac
caagatggacattctcttctacattgggcagcactgggaggaaatgctgatgtttgccag
atattaatagaaaataagatcaatccaaatgtccaggattatgcaggaagaacccctttg
cagtgtgcagcatatggaggctatatcaactgcatggcagttctcatggaaaacaatgca
gaccctaacattcaagacaaagagggaagaacagctttgcattggtcctgcaacaatgga
taccttgatgccattaaattactgctagactttgctgctttccctaatcagatggaaaac
aatgaagagagatacacaccccttgattatgctttgcttggtgagcgccatgaagtgatc
cagttcatgttggagcacggtgccctgtccatcgcagccatacaagacatcgccgccttc
aaaatccaagctgtctacaaagggtacaaggtcagaaaagccttccgagacaggaaaaat
ctcctcatgaagcatgaacagttgagaaaagatgctgctgccaaaaagcgagaggaagaa
aacaaacgaaaagaggcagaacagcaaaaaggaaggcggagcccagattcctgcagaccc
caggcccttccctgtctgcctagcacccaggatgtgcccagcaggcagagccgggccccc
agcaagcagcctcctgctggcaacgtggcccaaggccctgagccaagagacagcagagga
tctccaggagggtctctaggcggagccctccagaaggagcagcatgtttcctcagatttg
cagggaacaaactccagaaggccaaatgaaacagccagagaacattctaaaggccaatct
gcttgtgtccacttcagacccaatgaaggcagtgatggaagcaggcatccaggagttccc
tctgttgagaagtccagaggtgagacagctggcgatgagcggtgtgcaaaggggaaaggc
ttcgtgaagcagccctcctgtatcagggtggctgggcctgatgagaaaggagaggactcc
aggcgggcagctgcaagccttccaccgcacgatagccactggaagcccagcaggcggcat
gacacagaacccaaggccaaatgtgccccccagaaaaggcgcactcaagagctcagagga
ggaaggtgctctccggctggttctagccgccctggcagtgcccggggggaggcggtccat
gctgggcagaatcctccccaccatcgtacaccaagaaacaaagtgacacaagccaagctc
acaggagggctctattcacatttgccacagagcacagaggagttgaggtcaggagctagg
aggctggagacatctaccctgtccgaggactttcaggtatctaaggagactgatccagca
cctggtcccctctctgggcagagtgtgaatattgaccttctccccgtagagctccgactg
cagataattcagagagaacgaaggaggaaggagctgtttcgcaaaaagaacaaggcagca
gcagtcatccagcgcgcctggcgaagctaccagctcaggaagcacctgtcccaccttcgg
catatgaagcagcttggagctggagatgtggacagatggaggcaagagtctacagcattg
ctcctccaggtttggaggaaggaactggaactaaaattcccccaaaccactgcagtaagc
aaggcccccaagagtccatccaagggcacctcaggcacaaagtccaccaagcactcagtg
cttaagcaaatctatggttgttctcacgaagggaaaatacatcatcctacaagatctgta
aaagcctcttctgtgctgcgtctcaactcagtgagcaacctacagtgtatacatctcctt
gagaacagtggaagatcaaagaacttttcttataacctgcaatcagctactcagccaaaa
aacaaaacaaaaccttga

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