| Nomenclature | Genomic Location |
| Symbol | Dsg2 | Chromosome | 1 |
| Name | Desmoglein-2 | Linkage map | unknown |
| Species | Dracomimus familiaris | Genome Coordinates | 1: 53 Mbp |
| Molecular Function |
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Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins
and intermediate filaments mediating cell-cell adhesion.
Molecular Function Terms:
binding
ion binding
cation binding
metal ion binding
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| Human Disease Association |
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Defects in DSG2 are the cause of familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10)
[MIM:610193]; also known as arrhythmogenic right ventricular cardiomyopathy 10 (ARVC10). ARVD is an
autosomal dominant disease characterized by partial degeneration of the myocardium of the right
ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic
and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and
fibrous elements, preferentially involve the right ventricular free wall.
Genetic variations in DSG2 are the cause of susceptibility to cardiomyopathy dilated type 1BB (CMD1BB)
[MIM:612877]. A disorder characterized by ventricular dilation and impaired systolic function, resulting
in congestive heart failure and arrhythmia. Patients are at risk of premature death.
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1 TCTTTAAGACTAACCAATCTGTTTTGTTCATTTTTGATTTTAGTATGTGTTTTATTTATT
61 AGTTGCATCATCTTTGGAAATGGACTTCACTTAGAGATTCTTGGTGGCAAAAATGACGAG
121 CTATTCAATAAAAACAGCCTAATTAGGCAAAAGCGAGAATGGGTTGTCCCACCTGCAGTC
181 ATCTGGGAAGAGAGGGACAATTCCAAAAAGAATCCAATTGCTAAAATAAGATCTGATCGT
241 TCAGTTGAACCAGGAGTAATTATTACTTATACCATTTCTGGCCAAGGAGTTACAGAACCA
301 CCATACGGGTTATTTGTTATTAATGGAAAAACTGGAGACCTAAACATAACTGGAATAGTT
361 GATCGGGAACAAACGCCAATGTTGCATCTGAAAGGCTATGCATTGGATCAAAATGGGGTC
421 AACTTGGAAAAACCATTAGATCTACGAATTAAAGTTCTGGATATAAATGACAACAGCCCA
481 GTCTTTTCACAGGAAGTTTTTTCAGGTTCTATTGAAGAACTGTCAGCAATTGGTACTCTT
541 GTGATGAAGATAACTGCAACGGATGCAGATGAGCCAAACACTCCAAACTCCCTAATTCAT
601 TACAGGATTATTTCACAGGAACCTAATCAGCCCCAAGCATTTGTAATTAAACCTGAAACA
661 GGAGAGGTTCGGACTGCACTCATCCAACTCGACAGAGAGATGCAAAGTAGCTACACTTTA
721 ATTGTGGAAGCAAAAGATGGCAATGGAAGTTTAGCCGGGAATGCTCAGCAGACTAGTCTA
781 CAGATCAAAATTTTGGATGTCAATGACAACATTCCTGTTCTTGAAAAGGACAATTATGTA
841 GGAAGTGTTAAGGAAAATACAGCCAATATGGAAATTATGCGACTGAAGGTCTTTGACAGA
901 GATGAGGAATTCTCTGATAACTGGCTGGCACAGTTCACAATTTTGTCTGGCAACGAAGGA
961 GGCTATTTCCAGATAGAAACAGATTCGCAGACCAATGAAGGCGTTTTGAAATTGGTTAAG
1021 GAAATAAGCTATGAAGACCTAAAGAGCGCTGACTTGAATATTGTTGTTTCTAACAAAGCA
1081 GCATATCACCAATCAATTATTAAACAGGGCTTTCAAGCAAAACCAATTCCAATTAAAATA
1141 AATGTGGAAAATGTAGTGGAAGGCCCTGTATTTAAGCCCCAAACAATGGTGATTAAAGGC
1201 AATGAAAAAATGACCATAGGCCAGATTATTGGGAGATTTCAAGCTCATGATGAAGATACT
1261 GGAACAATAGCTAAAAATGTCAGGTATGCTAAAGACCGGGATGCCGCAAACTGGTTTGTA
1321 ATAGACTCCAAAACAGCTGAGATTAAACTGATTAGAGTGCCTGGTTATGAATCACAATTT
1381 GTTAATAACGGTACTTATACTGCAACAATTTTGGCCATAAGTGATGGCATCCCTTCACAA
1441 ACAGCCACAGGCACTATTGTAATTGAAGTGCCGAATTTTAATGACTACTGCCCAACTTTA
1501 GTGACTCGAGAAGCAAGTCTCTGTACAGGTGCAAAGTTCATTAATGTCACTGTTGAGGAT
1561 CGAGATGCTCATCCATATGGTGGCCCTTTTACTTTCACTGTTGTTGATGGAGCTGAAAGG
1621 ATGTCAGAGAGATGGACAATTGGCCGGATGGATGGAACTAGAGCACAGTTGGTGCCACAG
1681 AATGTGGATGTTGGAACATATGAAGTTCCTCTCTTAATAAAAGACAACCAAGGCTTGAGC
1741 TGCCCTGAACCACAAATCCTAAAGGTGCACGTTTGTGATTGTGTAGATCGTACTGATTGC
1801 AGAATCACAGAGCCAATTGTTGGTTCCTCGGTTGTCCTTGGACCTGCAGCAATCGCACTG
1861 ATCATTTTGGCACTTTTGCTGCTGCTACTTGTACCTCTCTTACTGCTGGCATGTGGCTTT
1921 GGATCTCGCCTTGGGTTGGGCACTGGAAAAGGTTTTGTAGCCATTCCTGATACCAGCGAA
1981 GAAATGCTACGAAACTGGAACAGCGAAAAGGCAGCTCCTGACAATAAGGCAATTCCCAGC
2041 CTCATTTCATCCACAGCAGTGGACAGTTCAGCCTCACATGGGGGATTAATAGCAACTGGT
2101 GTTGGAACAGCAGCGGCTGGTATTGGAGCAGCAGGAGCAGGAGCTGCTGCAGGAGGAGGC
2161 GGTGGCTCTTCTTCTGTGTTTAGGGAGAAGTACTTCGGCAGGGAAGAGCAAACAGCTCTT
2221 CTTTCTGGGACAGACTATAGAGGCATGAGATTTGGAGGAGGCTCAGGCACAGCAGCTGCA
2281 GGAAGCTTGGCAGCAGGAGGAACCATGACTCTTGGTGCTGGAAGAACTTTTGCTATGGAA
2341 AGTGGAAGCATGGTGAATGAAGACTTTTTGAGAAGTTACTTCACTGTGAAAGCTGAAGCT
2401 TTTGCCGACGAGGATGAAACACAGCTTGCCAAAGACTGCCTGCTAGTTTACTCTCAGGAT
2461 GAAGAGAAAGATTCCATCCGTGGCTCGGTTGGTTGCTGCAGCTTTATTGAGGATGACTTT
2521 GATGACCATTTCTTGGATGACCTGGGAGACAAATTTAAGACTCTGGCTGAGATCTGTATG
2581 GGCAAACATGTAGGCATGGGAGCCCGACAGGTCACTACCCAAGTGCCAAAAGCTGCAAGT
2641 CCTATTCTTGCAGTAAATGAATCAGATGTTCAGTACATGCACCAGCAAAATGCTCTGAGT
2701 TCAGAACAGACCTATACTTCAGGGCCTAGTTTCCAGCTACCCAGATCCGCAGACCACTTT
2761 GGTTCAGCAGCTAGGTCGGAGGAAACAATTACTGAGACTAAATTTACATCTGGTCTGCAG
2821 CAAACTAGGCCCATACTTGACCCCTTAGTTAATAGCAGCAATGTTGTTGTGACAGAAACT
2881 TCTTATGGGGCCAGACCCCCAATGGTAATCCTTGACCCTCAGTTTACGGAGAATGTAGTT
2941 GTAACAGAGAGAGTACTTGCTCCAGCTTCTAATTTGCAGACTGTGTTAGACACTCCTGCT
3001 GGAGCCTTCCCAGACCTCCCAGATTCAAAATACGTTGTTGTAAGAGAAAGGGAAAGGGTC
3061 CTTGTACCTAGTGCCGATTTAAAGACTCCTTTAAGCAATTTATCAGAAGGACAGAATGTG
3121 GTAGTAACTGAGTCTGTGATGACACCTGGTACTCTTAGGAGGAGCACAGCAGACCCCTAT
3181 GCTGACACTGAGAGGCAGGAACATGTTTTCATCTCGGACCCTTTCCAAACCAATGCTCAG
3241 GAGCTACTGTCCTCTGGTTCTACCTTGAGCAAGTCCTCAACAGTAACAAAATACAGCTCT
3301 GTGCAGTATTCACGTTCGTAG
| Predicted Protein Product |
SLRLTNLFCSFLILVCVLFISCIIFGNGLHLEILGGKNDELFNKNSLIRQKREWVVPPAV
IWEERDNSKKNPIAKIRSDRSVEPGVIITYTISGQGVTEPPYGLFVINGKTGDLNITGIV
DREQTPMLHLKGYALDQNGVNLEKPLDLRIKVLDINDNSPVFSQEVFSGSIEELSAIGTL
VMKITATDADEPNTPNSLIHYRIISQEPNQPQAFVIKPETGEVRTALIQLDREMQSSYTL
IVEAKDGNGSLAGNAQQTSLQIKILDVNDNIPVLEKDNYVGSVKENTANMEIMRLKVFDR
DEEFSDNWLAQFTILSGNEGGYFQIETDSQTNEGVLKLVKEISYEDLKSADLNIVVSNKA
AYHQSIIKQGFQAKPIPIKINVENVVEGPVFKPQTMVIKGNEKMTIGQIIGRFQAHDEDT
GTIAKNVRYAKDRDAANWFVIDSKTAEIKLIRVPGYESQFVNNGTYTATILAISDGIPSQ
TATGTIVIEVPNFNDYCPTLVTREASLCTGAKFINVTVEDRDAHPYGGPFTFTVVDGAER
MSERWTIGRMDGTRAQLVPQNVDVGTYEVPLLIKDNQGLSCPEPQILKVHVCDCVDRTDC
RITEPIVGSSVVLGPAAIALIILALLLLLLVPLLLLACGFGSRLGLGTGKGFVAIPDTSE
EMLRNWNSEKAAPDNKAIPSLISSTAVDSSASHGGLIATGVGTAAAGIGAAGAGAAAGGG
GGSSSVFREKYFGREEQTALLSGTDYRGMRFGGGSGTAAAGSLAAGGTMTLGAGRTFAME
SGSMVNEDFLRSYFTVKAEAFADEDETQLAKDCLLVYSQDEEKDSIRGSVGCCSFIEDDF
DDHFLDDLGDKFKTLAEICMGKHVGMGARQVTTQVPKAASPILAVNESDVQYMHQQNALS
SEQTYTSGPSFQLPRSADHFGSAARSEETITETKFTSGLQQTRPILDPLVNSSNVVVTET
SYGARPPMVILDPQFTENVVVTERVLAPASNLQTVLDTPAGAFPDLPDSKYVVVRERERV
LVPSADLKTPLSNLSEGQNVVVTESVMTPGTLRRSTADPYADTERQEHVFISDPFQTNAQ
ELLSSGSTLSKSSTVTKYSSVQYSRS
| Protein Alignment to Mouse |
sp|O55111|DSG2_MOUSE Desmoglein-2 OS=Mus musculus GN=Dsg2 PE=1 SV=3
MGI:1196466 Dsg2 desmoglein 2 (Chr 18)
Length = 1122
Score = 1680 (596.4 bits), Expect = 3.4e-219, Sum P(3) = 3.4e-219
Identities = 340/689 (49%), Positives = 449/689 (65%)
Query: 9 CSFLILVCVLFISCIIFGNGLHLEILGGKND-ELFNKNS-LIRQKREWVVPPAVIWEERD 66
C+ L+LV +L + C+ FGNGLHLE+ +N+ + F K++ L+RQKR W+ P + E D
Sbjct: 9 CALLLLVQLLAVVCLDFGNGLHLEVFSPRNEGKPFPKHTHLVRQKRAWITAPVALREGED 68
Query: 67 NSKKNPIAKIRSDRSVEPGVIITYTISGQGVTEPPYGLFVINGKTGDLNITGIVDREQTP 126
S+KNPIAKI SD + E G+ ITY +G+G+TEPP+G+FV + TG+LNIT I+DRE+TP
Sbjct: 69 LSRKNPIAKIHSDLAEEKGIKITYKYTGKGITEPPFGIFVFDRNTGELNITSILDREETP 128
Query: 127 MLHLKGYALDQNGVNLEKPLDLRIKVLDINDNSPVFSQEVFSGSIEELSAIGTLVMKITA 186
L GYALD G NLEKPL+LRIKVLDINDN PVF+QEVF GSIEELSA TLVMKITA
Sbjct: 129 YFLLTGYALDSRGNNLEKPLELRIKVLDINDNEPVFTQEVFVGSIEELSAAHTLVMKITA 188
Query: 187 TDADEPNTPNSLIHYRIISQEPNQPQAFVIKPETGEVRTALIQLDREMQSSYTLIVEAKD 246
TDAD+P T N+ + YRI+SQEP F + +TGE+ T LDRE SSY+L VEA+D
Sbjct: 189 TDADDPETLNAKVSYRIVSQEPANSHMFYLNKDTGEIYTTSFTLDREEHSSYSLTVEARD 248
Query: 247 GNGSLAGN-AQQTSLQIKILDVNDNIPVLEKDNYVGSVKENTANMEIMRLKVFDRDEEFS 305
GNG + QQ +QI+ILDVNDNIPV+E Y G+V+EN N+E+MR+KV D DE S
Sbjct: 249 GNGQITDKPVQQAQVQIRILDVNDNIPVVENKMYEGTVEENQVNVEVMRIKVTDADEVGS 308
Query: 306 DNWLAQFTILSGNEGGYFQIETDSQTNEGVLKLVKEISYEDLKSADLNIVVSNKAAYHQS 365
DNWLA FT SGNEGGYF IETD+QTNEG++ LVKE+ YE++K DL+I+V+NKAA+H+S
Sbjct: 309 DNWLANFTFASGNEGGYFHIETDTQTNEGIVTLVKEVDYEEMKKLDLSIIVTNKAAFHKS 368
Query: 366 IIKQGFQAKPIPIKINVENVVEGPVFKPQTMVIKGNEKM---TIGQIIGRFQAHDEDTGT 422
I+ + ++A PIPI + V+NVVEG FK + + +E M ++ + IG FQ DEDTG
Sbjct: 369 ILSK-YKATPIPITVKVKNVVEGIHFKSSVVSFRASEAMDRSSLSRSIGNFQVFDEDTGQ 427
Query: 423 IAKNVRYAKDRDAANWFVIDSKTAEIKLIRVPGYESQFVNNGTYTATILAISDGIPSQTA 482
AK V Y K +D NW +DS T+EIKL+++P +ES++V NGTYTA ++AIS P +T
Sbjct: 428 AAK-VTYVKVQDTDNWVSVDSVTSEIKLVKIPDFESRYVQNGTYTAKVVAISKEHPQKTI 486
Query: 483 TGTIVIEVPNFNDYCPTLVTREASLCTGAKFINVTVEDRDAHPYGGPFTFTVVDGAERMS 542
TGTIVI V + ND CP LV S+C ++NVT ED D PF+F+++D +
Sbjct: 487 TGTIVITVEDVNDNCPVLVDSVRSVCEDEPYVNVTAEDLDGAQNSAPFSFSIIDQPPGTA 546
Query: 543 ERWTIGRMDGTRAQLVPQNVDVGTYEVPLLIKDNQGLSCPEPQILKVHVCDCVDRTDCRI 602
++W I + T L G E+P LI D+QG SCPE Q+L++ VC+C+ C
Sbjct: 547 QKWKITHQESTSVLLQQSERKRGRSEIPFLISDSQGFSCPERQVLQLTVCECLKGGGCVA 606
Query: 603 TEPIVGSSXXXXXXXXXXXXXXXXXXXXXXXXXXXCGFGSRLGLGTGKGFVAIPDTSEEM 662
+ + C G G KGF IP T E M
Sbjct: 607 AQ--YDNYVGLGPAAIALMILALLLLLLVPLLLLICHCG-----GGAKGFTPIPGTIE-M 658
Query: 663 LRNWNSEKAAPDNKAIPSLISSTAVDSSA 691
L WN+E A P++K +PSL+ + +SSA
Sbjct: 659 LHPWNNEGAPPEDKVVPSLLVADHAESSA 687
Score = 403 (146.9 bits), Expect = 3.4e-219, Sum P(3) = 3.4e-219
Identities = 117/353 (33%), Positives = 163/353 (46%)
Query: 647 GTGKGFVAIPDTSEEMLRNWNSEKAAPDNKAIPSLISSTAVDSSASHXXXXXXXXXXXXX 706
G KGF IP T E ML WN+E A P++K +PSL+ + +SSA
Sbjct: 644 GGAKGFTPIPGTIE-MLHPWNNEGAPPEDKVVPSLLVADHAESSAVRGGVGGAMLKEGMM 702
Query: 707 XXXXXXXXXXXXXXXXSSSVFREKYFGR-EEQTALLSGTDYRGMRFXXXXXXXXXXXXXX 765
GR EE +LL+ +R
Sbjct: 703 KGSSSASVTKGQHELSEVD-------GRWEEHRSLLTAGATHHVR-----TAGTIAANEA 750
Query: 766 XXXXXXXXXRTFAMESGSM-VNEDFLRSYFTVKAEAFADEDETQLAKDCLLVYSQDEEKD 824
R + G++ VNE+FLRSYFT KA ++ ED+ +AKDCLLVYSQ E+
Sbjct: 751 VRTRATGSSRDMSGARGAVAVNEEFLRSYFTEKAASYNGEDDLHMAKDCLLVYSQ-EDTA 809
Query: 825 SIRGSVGCCSFIEXXXXXXXXXXXXXKFKTLAEICMGKHVGMGARQVTTQVPKAASPILA 884
S+RGSVGCCSFIE KFKTLAE+C+G+ + + Q P + + A
Sbjct: 810 SLRGSVGCCSFIEGELDDLFLDDLGLKFKTLAEVCLGRKIDLDVDIEQRQKPVREASVSA 869
Query: 885 VNESDVQYMHQQNALSSEQTYTSGPSFQLPRSADHFGSAARSEETITETKFTSGL-QQTR 943
+ S ++Q SSE Y+S F P+ + ++E +TE+ +S Q+
Sbjct: 870 ASGSH----YEQAVTSSESAYSSNTGFPAPKPLHEVHTEKVTQEIVTESSVSSRQSQKVV 925
Query: 944 PILDPLXXXXXXXXTETSYG---ARPPM-VILDPQFTENVVVTERVLAPASNL 992
P DP+ TETSY A PP V+L P+ ++++VTERV AP S L
Sbjct: 926 PPPDPVASGNIIV-TETSYAKGSAVPPSTVLLAPRQPQSLIVTERVYAPTSTL 977
Score = 107 (42.7 bits), Expect = 1.4e-182, Sum P(2) = 1.4e-182
Identities = 46/175 (26%), Positives = 71/175 (40%)
Query: 893 MHQQNALSSEQTYTSGPSFQLPRSADHFGSAARSEETITETKFTSG--LQQTRPILDPLX 950
+H + T +S S Q + A +TET + G + + +L P
Sbjct: 901 VHTEKVTQEIVTESSVSSRQSQKVVPPPDPVASGNIIVTETSYAKGSAVPPSTVLLAP-R 959
Query: 951 XXXXXXXTETSYGARPPMVILDPQFT--ENVVVTERVLAPASNLQTVLDTPAGAFPDLPD 1008
TE Y P ++D + E V+VTERV+ P + L+ L D
Sbjct: 960 QPQSLIVTERVYA--PTSTLVDQHYANEEKVLVTERVIQPNGGIPKPLEVTQ----HLKD 1013
Query: 1009 SKYXXXXXXXXXXXPSADLKTPL---SNLSEGQNVVVTESVMTPG-TLRRSTADP 1059
++Y PS+ ++ L S + GQNV VTE ++TP TL+ S P
Sbjct: 1014 AQYVMVRERESILAPSSGVQPTLAMPSVAAGGQNVTVTERILTPASTLQSSYQIP 1068
Score = 67 (28.6 bits), Expect = 3.4e-219, Sum P(3) = 3.4e-219
Identities = 13/24 (54%), Positives = 17/24 (70%)
Query: 977 ENVVVTERVLAPASNLQTVLDTPA 1000
+NV VTER+L PAS LQ+ P+
Sbjct: 1046 QNVTVTERILTPASTLQSSYQIPS 1069
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