Home Search Reports Help

Gene Model: Pde6b

NomenclatureGenomic Location
SymbolPde6bChromosome1
NamePhosphodiesterase 6B,
cGMP-specific, rod, beta
Linkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates1: 63 Mbp

Molecular Function

This protein participates in processes of transmission and amplification of the visual signal. Necessary for the formation of a functional phosphodiesterase holoenzyme.

Molecular Function Terms:

catalytic activity
   hydrolase activity
      hydrolase activity, acting on ester bonds
         phosphoric ester hydrolase activity
            phosphoric diester hydrolase activity
               cyclic-nucleotide phosphodiesterase activity

Human Disease Association

Defects in PDE6B are the cause of retinitis pigmentosa type 40 (RP40) [MIM:613801]. RP40 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

Defects in PDE6B are a cause of congenital stationary night blindness autosomal dominant type 2 (CSNBAD2) [MIM:163500]; also known as congenital stationary night blindness Rambusch type. Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision.

Predicted Transcript
     1 ATGAGTGTTAACAAAGATGAAGTCGAAACATTCCTGGATAACAACCTGGATTTTGCCAAG
    61 CAGTATTTTGAGAGGAAACTGGGAGACAAAACCCTGTGTGCCACAGCAAGCTTCCATCAA
   121 TGCTCAGAAGATGGTGTGGACTTTGGAGGGCTGGGCCAGAATGAGACCGAAACCCTATTT
   181 GAGCTGATACAAGACATGCAAGAAAGCATCAACATGGAGAAAGTGGTCTTCAAGACCCTG
   241 AAAAGGATCAGTGTTCTCATACAAGCGGATTGCTGCAGCCTCTTCATGTACAGGCAGCGT
   301 AACGGCACCCCTGAGCTGGCAACTCGGCTGTTCAATATCCGTAAGGACAGCACAATGGAA
   361 GAATCCCTGGTAGCCCCGGACTGTGAAATTGTTTTCCCTTTGGATATGGGGATAGTGGGT
   421 TATGTAGCCCAGAATAAGAAGACTGTGAACATCCAAAATGTTGACGAGTGTGACTATTTT
   481 AGCACTTTTGTTGATGAACTCACTGGCTACACTACAAGGAACGTCCTTGCCACACCAATC
   541 ATGAACGGCAAAGAGGTGGTTGCTGTAATCATGGCAGTGAATAAGAGTGGAGCTCAATTT
   601 TTCAGCAGTGCAGATGAAAATCTTTTCCTGAAGTATCTTAATTTTGCTGCTTTGAATCTG
   661 AAAATTTATCATCTGAGCTACCTTCACAATTGTGAAACGCGAAGAGGTCAGGTTTTGCTG
   721 TGGTCAGCGAATAAAGTATTTGAAGAATTAACTGATATTGAGAGGCAATTCCACAAAGCA
   781 TTTTACACAGTCAGAGCATATTTGAACTGTGACAGGTATTCTGTAGGCCTTCTGGATATG
   841 AGCAAACAAAAGGAGTTTTTTGACTTGTGGCCAGTACTCATGGGTGAAGTTCCACCATAT
   901 TCCGGTCCTCGAACTCCAGATGGAAGAGAGATTGCATTTTATAAAGTCATTGATTATATC
   961 TTACATGGAAAGGAAGACATTAAAGTTATCCCTAATCCTAAACCAGAACACTGGGCCCTG
  1021 GTTAGTGGACTCCCAACCTATGTAGCAGAAACTGGTTTTATTTGCAACATTATGAATGCA
  1081 GCATCAGATGAAATGTTTGCATTTCAGGAAGGTCCTGTTGATGAATCAGGTTGGGTCATC
  1141 AAAAATGTTCTCTCCATGCCAATAGTCAACAAAAAAGAAGAAATTGTTGGAGTTGCTACC
  1201 TTTTACAATAGGAAAGATGGGAAACCCTTTGATGAACAGGATGAAATATTAATGGAGTCT
  1261 CTGACGCAGTTTCTTGGGTGGTCTGTGCTCAATACCGATACTTACGATAAGATGAACAAA
  1321 CTGGAATATCGAAAAGACATTGCACAGGATATGGTGCTGTACCATATAAAATGTGACAAG
  1381 AATGAAATTCAAGCAATCCTGCCCACACGAGAAAAACTTGGAAAAGAAGTGTCTGAATGT
  1441 GATGAGGAAGAGTTGGCGGCAATTCTGAAGGAACAGCTCCCAGATCCTGAAGAATATGAA
  1501 ATCTATCACTTTCACTTTTCTGACTTGGAATGGACTGAATTTGACCTTGTGAAATGTGGC
  1561 ATCCAAATGTACTATGAACTTGGAGTGGTGAAAAAATTTCAGATTCCACAGGAAGTGCTG
  1621 GTGAGATTCATTTTTTCAGTCAGCAAGGGGTATAGAAAAATCACTTATCACAACTGGCGC
  1681 CATGGCTTCAACGTTGCACAGACCATGTTCACACTTCTTATGACAGGCAAACTGAAACAA
  1741 TACTACACAGATCTTGAAGCACTGGCTATGGTTACTGCAGCTCTGTGTCATGATATTGAT
  1801 CATCGAGGAACCAACAATCTTTATCAGATGAAATCTCAACATCCCTTAGCAAAACTTCAC
  1861 GGCTCATCAATTTTAGAGAGACATCACTTGGAATTTGGCAAATTCCTGCTTTCAGAAGAG
  1921 TCCTTGAACATTTATCAGAATCTCAACAGGAGGCAATTTGAGCACGTGAATAATTTGATG
  1981 GATATTGCCATTATAGCTACTGACTTAGCACTGTACTTCAAAAAAAGAACCATGTTTCAG
  2041 AAAATCGTTGATGAATCCAAAACCTATGACAATGAGAAAGAGTGGGCTGAATATTTGTCT
  2101 CTGGAAGCAACAAAGAAAGAGATTATCATGGCTATGATGATGACTGCTTGTGACTTATCT
  2161 GGTATCGCAAAACCATGGGAAGTGCAGAGTAAGGTGGCATTGCTTGTAGCAGCTGAGTTC
  2221 TGGGAACAGGGAGACTTGGAGATATCTGTACTTCAGCAACAACCTATTCCAATGATGGAC
  2281 AGAAGAAAAGCTGCTGAACTTCCAAAACTTCAAGTTGGGTTCATTGACTTTGTGTGCACA
  2341 TTTGTATACAAGGAATTTTCACGTTTCCATCCACAAATTCAGCCAATGTACGAGCGACTG
  2401 TTGAACAACAGAAAAGAGTGGAAGGCCCTGGCTGATGATTACGATGCAAACATGAAAGCT
  2461 TTAGAAGAAAAACGAAAGGAAGAAGAGGCGAAAACAGTTAATAGTAAAGGTGCCATACTA
  2521 ACTTGCAATGGAGAAAGTGTTCCCCCATCTTCAACATGTTGCATAATTTAA

Predicted Protein Product
MSVNKDEVETFLDNNLDFAKQYFERKLGDKTLCATASFHQCSEDGVDFGGLGQNETETLF
ELIQDMQESINMEKVVFKTLKRISVLIQADCCSLFMYRQRNGTPELATRLFNIRKDSTME
ESLVAPDCEIVFPLDMGIVGYVAQNKKTVNIQNVDECDYFSTFVDELTGYTTRNVLATPI
MNGKEVVAVIMAVNKSGAQFFSSADENLFLKYLNFAALNLKIYHLSYLHNCETRRGQVLL
WSANKVFEELTDIERQFHKAFYTVRAYLNCDRYSVGLLDMSKQKEFFDLWPVLMGEVPPY
SGPRTPDGREIAFYKVIDYILHGKEDIKVIPNPKPEHWALVSGLPTYVAETGFICNIMNA
ASDEMFAFQEGPVDESGWVIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEQDEILMES
LTQFLGWSVLNTDTYDKMNKLEYRKDIAQDMVLYHIKCDKNEIQAILPTREKLGKEVSEC
DEEELAAILKEQLPDPEEYEIYHFHFSDLEWTEFDLVKCGIQMYYELGVVKKFQIPQEVL
VRFIFSVSKGYRKITYHNWRHGFNVAQTMFTLLMTGKLKQYYTDLEALAMVTAALCHDID
HRGTNNLYQMKSQHPLAKLHGSSILERHHLEFGKFLLSEESLNIYQNLNRRQFEHVNNLM
DIAIIATDLALYFKKRTMFQKIVDESKTYDNEKEWAEYLSLEATKKEIIMAMMMTACDLS
GIAKPWEVQSKVALLVAAEFWEQGDLEISVLQQQPIPMMDRRKAAELPKLQVGFIDFVCT
FVYKEFSRFHPQIQPMYERLLNNRKEWKALADDYDANMKALEEKRKEEEAKTVNSKGAIL
TCNGESVPPSSTCCII
Protein Alignment to Mouse
sp|P23440|PDE6B_MOUSE Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit
            beta OS=Mus musculus GN=Pde6b PE=2 SV=3
      MGI:97525 Pde6b phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide (Chr 5)
        Length = 856

 Score = 3496 (1235.7 bits), Expect = 0., P = 0.
 Identities = 659/862 (76%), Positives = 741/862 (85%)

Query:     1 MSVNKDEVETFLDNNLDFAKQYFERKLGDKTLCATASFHQCSEDG--VDFGGLGQ----N 54
             MS+++++V +FLD N  FA QYF +KL  + +        C EDG   D G L +     
Sbjct:     1 MSLSEEQVRSFLDGNPTFAHQYFGKKLSPENVAGA-----C-EDGWLADCGSLRELCQVE 54

Query:    55 ETETLFELIQDMQESINMEKVVFKTLKRISVLIQADCCSLFMYRQRNGTPELATRLFNIR 114
             E+  LFEL+QDMQES+NME+VVFK L+R+  ++ AD CSLFMYRQRNG  ELATRLF+++
Sbjct:    55 ESAALFELVQDMQESVNMERVVFKILRRLCTILHADRCSLFMYRQRNGIAELATRLFSVQ 114

Query:   115 KDSTMEESLVAPDCEIVFPLDMGIVGYVAQNKKTVNIQNVDECDYFSTFVDELTGYTTRN 174
              DS +E+ LV PD EIVFPLD+GIVG+VAQ KK +N+Q+V EC +FS+F DELT Y T+N
Sbjct:   115 PDSLLEDCLVPPDSEIVFPLDIGIVGHVAQTKKMINVQDVAECPHFSSFADELTDYVTKN 174

Query:   175 VLATPIMNGKEVVAVIMAVNKSGAQFFSSADENLFLKYLNFAALNLKIYHLSYLHNCETR 234
             +L+TPIMNGK+VVAVIMAVNK     F+S DE++F KYLNFA LNLKIYHLSYLHNCETR
Sbjct:   175 ILSTPIMNGKDVVAVIMAVNKLDGPCFTSEDEDVFTKYLNFATLNLKIYHLSYLHNCETR 234

Query:   235 RGQVLLWSANKVFEELTDIERQFHKAFYTVRAYLNCDRYSVGLLDMSKQKEFFDLWPVLM 294
             RGQVLLWSANKVFEELTDIERQFHKAFYTVRAYLNC+RYSVGLLDM+K+KEFFD+WPVLM
Sbjct:   235 RGQVLLWSANKVFEELTDIERQFHKAFYTVRAYLNCERYSVGLLDMTKEKEFFDVWPVLM 294

Query:   295 GEVPPYSGPRTPDGREIAFYKVIDYILHGKEDIKVIPNPKPEHWALVSGLPTYVAETGFI 354
             GE  PYSGPRTPDGREI FYKVIDYILHGKEDIKVIP P  +HWAL SGLPTYVAE+GFI
Sbjct:   295 GEAQPYSGPRTPDGREIVFYKVIDYILHGKEDIKVIPTPPADHWALASGLPTYVAESGFI 354

Query:   355 CNIMNAASDEMFAFQEGPVDESGWVIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEQD 414
             CNIMNA++DEMF FQEGP+D+SGWVIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFD+QD
Sbjct:   355 CNIMNASADEMFNFQEGPLDDSGWVIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDDQD 414

Query:   415 EILMESLTQFLGWSVLNTDTYDKMNKLEYRKDIAQDMVLYHIKCDKNEIQAILPTREKLG 474
             E+LMESLTQFLGWSVLNTDTYDKMNKLE RKDIAQDMVLYH++CDK+EIQ ILPTR++LG
Sbjct:   415 EVLMESLTQFLGWSVLNTDTYDKMNKLENRKDIAQDMVLYHVRCDKDEIQEILPTRDRLG 474

Query:   475 KEVSECDEEELAAILKEQLPDPEEYEIYHFHFSDLEWTEFDLVKCGIQMYYELGVVKKFQ 534
             KE ++C+E+EL  ILKE+LP P +++IY FHFSDLE TE +LVKCGIQMYYELGVV+KFQ
Sbjct:   475 KEPADCEEDELGKILKEELPGPTKFDIYEFHFSDLECTELELVKCGIQMYYELGVVRKFQ 534

Query:   535 IPQEVLVRFIFSVSKGYRKITYHNWRHGFNVAQTMFTLLMTGKLKQYYTDLEALAMVTAA 594
             IPQEVLVRF+FSVSK YR+ITYHNWRHGFNVAQTMFTLLMTGKLK YYTDLEA AMVTA 
Sbjct:   535 IPQEVLVRFLFSVSKAYRRITYHNWRHGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAG 594

Query:   595 LCHDIDHRGTNNLYQMKSQHPLAKLHGSSILERHHLEFGKFLLSEESLNIYQNLNRRQFE 654
             LCHDIDHRGTNNLYQMKSQ+PLAKLHGSSILERHHLEFGKFLL+EESLNIYQNLNRRQ E
Sbjct:   595 LCHDIDHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLAEESLNIYQNLNRRQHE 654

Query:   655 HVNNLMDIAIIATDLALYFKKRTMFQKIVDESKTYDNEKEWAEYLSLEATKKEIIMAMMM 714
             HV +LMDIAIIATDLALYFKKRTMFQKIVDESK Y+++K W EYLSLE T+KEI+MAMMM
Sbjct:   655 HVIHLMDIAIIATDLALYFKKRTMFQKIVDESKNYEDKKSWVEYLSLETTRKEIVMAMMM 714

Query:   715 TACDLSGIAKPWEVQSKVALLVAAEFWEQGDLEISVLQQQPIPMMDRRKAAELPKLQVGF 774
             TACDLS I KPWEVQSKVALLVAAEFWEQGDLE +VL QQPIPMMDR KAAELPKLQVGF
Sbjct:   715 TACDLSAITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMMDRNKAAELPKLQVGF 774

Query:   775 IDFVCTFVYKEFSRFHPQIQPMYERLLNNRKEWKALADDYDANMXXXXXXXXXXXXXTVN 834
             IDFVCTFVYKEFSRFH +I PM++RL NNRKEWKALAD+Y+A +                
Sbjct:   775 IDFVCTFVYKEFSRFHEEILPMFDRLQNNRKEWKALADEYEAKVKALEEEKKKEEDRVAA 834

Query:   835 SKGAILTCNGESVPPSSTCCII 856
              K     CNG   P SSTCCI+
Sbjct:   835 KKVGTEVCNGGPAPKSSTCCIL 856