KEGG   Homo sapiens (human): 27130
Entry
27130             CDS       T01001                                 
Symbol
INVS, INV, NPH2, NPHP2
Name
(RefSeq) inversin
  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 IQ IQCJ-SCHIP1
Other DBs
NCBI-GeneID: 27130
NCBI-ProteinID: NP_055240
OMIM: 243305
HGNC: 17870
Ensembl: ENSG00000119509
UniProt: Q9Y283
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (37)   
   KEGG ORTHOLOGY (1)   
   RefGene (27)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (33)   
   RefSeq(nuc) (5)   
   GenBank (14)   
   EMBL (14)   
Protein domain (7)   
   Pfam (7)   
All databases (89)   

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