KEGG ORTHOLOGY: K07610

ORTHOLOGY: K07610

Entry

K07610                      KO

Symbol

DES

Name

desmin

Pathway

map04820

Cytoskeleton in muscle cells

map05410

Hypertrophic cardiomyopathy

map05412

Arrhythmogenic right ventricular cardiomyopathy

map05414

Dilated cardiomyopathy

Disease

H00294

Dilated cardiomyopathy

H00595

Myofibrillar myopathies

H00656

Scapuloperoneal myopathy

H01219

Restrictive cardiomyopathy

Brite

KEGG Orthology (KO) [BR:ko00001]
09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    K07610  DES; desmin
09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    K07610  DES; desmin
   05412 Arrhythmogenic right ventricular cardiomyopathy
    K07610  DES; desmin
   05414 Dilated cardiomyopathy
    K07610  DES; desmin
09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins
    K07610  DES; desmin
Cytoskeleton proteins [BR:ko04812]
Eukaryotic cytoskeleton proteins
  Intermediate filaments
   Intermediate filaments
    Type III
     K07610  DES; desmin

Genes

HSA:

1674(DES)

PTR:	470657(DES)

PPS:	100970680(DES)

GGO:	101144047(DES)

PON:	100452417(DES)

PPYG:

129031844(DES)

NLE:	100586972(DES)

HMH:	116810260(DES)

SSYN:

129488474(DES)

MCC:	703300(DES)

MCF:	102118855(DES)

MTHB:

126932989

MNI:	105481267(DES)

CSAB:

103217910(DES)

CATY:

105587021(DES)

PANU:

100137488(DES)

TGE:	112636742(DES)

MLEU:

105528071(DES)

RRO:	104660062(DES)

RBB:	108518459(DES)

TFN:	117094482(DES)

PTEH:

111548973(DES)

CJC:	100402007(DES)

SBQ:	101045765(DES)

CIMI:

108309104(DES)

ANAN:

105712821(DES)

MMUR:

105857664(DES)

LCAT:

123643732(DES)

PCOQ:

105808798(DES)

OGA:	100967160(DES)

MMU:	13346(Des)

MCAL:

110294864(Des)

MPAH:

110322655(Des)

RNO:	64362(Des)

MCOC:

116088605(Des)

ANU:	117705775(Des)

ASYL:

127692618(Des)

MUN:	110539374(Des)

CGE:	100764990(Des)

MAUA:

101837949(Des)

PROB:

127226468(Des)

PLEU:

114709309(Des)

MORG:

121447214(Des)

MFOT:

126512980

AAMP:

119820605(Des)

NGI:	103727757(Des)

HGL:	101716469(Des)

CPOC:

100733478(Des)

CCAN:

109691740(Des)

DORD:

105981975(Des)

DSP:	122107478(Des)

PLOP:

125350272(Des)

NCAR:

124980546

MMMA:

107138726(Des)

ITI:	101972018(Des)

OCU:	100328890(DES)

OPI:	101534266(DES)

TUP:	102493555(DES)

GVR:	103596778(DES)

CFA:	497091(DES)

CLUD:

112656385(DES)

VVP:	112922515(DES)

VLG:	121480780(DES)

NPO:	129522722(DES)

AML:	100469020(DES)

UMR:	103662877(DES)

UAH:	113250426(DES)

UAR:	123779452(DES)

ELK:

111153536

LLV:

125095395

MPUF:

101682328(DES)

MNP:	132013579(DES)

MLK:	131827416(DES)

NVS:	122902341(DES)

ORO:	101381848(DES)

EJU:	114200187(DES)

ZCA:	113919650(DES)

MLX:	118012018(DES)

NSU:	110591853(DES)

LWW:	102729152(DES)

FCA:	101097010(DES)

PYU:	121031110(DES)

PCOO:

112848572(DES)

PBG:	122481810(DES)

PVIV:

125172396(DES)

LRUF:

124515510

PTG:	102958270(DES)

PPAD:

109265022(DES)

PUC:

125911143

AJU:

106970045

HHV:	120219825(DES)

BTA:	280765(DES)

BOM:	102283076(DES)

BIU:	109571125(DES)

BBUB:

102410291(DES)

BBIS:

105003866(DES)

CHX:	102180712(DES)

OAS:	101117308(DES)

BTAX:

128064785(DES)

CSUM:

138075482(DES)

ODA:	120854336(DES)

CCAD:

122426251(DES)

MREE:

136164889(DES)

MBEZ:

129537919(DES)

SSC:	396725(DES)

CFR:	102523846(DES)

CBAI:

105064047(DES)

CDK:	105096114(DES)

VPC:	102529496(DES)

BACU:

103010232(DES)

BMUS:

118898069(DES)

LVE:	103071046(DES)

OOR:	101282019(DES)

DLE:	111171858(DES)

PCAD:

102980525(DES)

PSIU:

116756690(DES)

NASI:

112411908(DES)

ECB:	100059397(DES)

EPZ:	103557453(DES)

EAI:	106840550(DES)

MYB:	102238966(DES)

MYD:	102760351(DES)

MMYO:

118661816(DES)

MLF:	102434126(DES)

MDT:	132238267(DES)

PKL:	118709589(DES)

EFUS:

103289286(DES)

MNA:	107524828(DES)

DRO:	112307751(DES)

SHON:

118975344(DES)

AJM:	119047943(DES)

PDIC:

114494734(DES)

PHAS:

123828276(DES)

MMF:	118625414(DES)

PPAM:

129080323(DES)

HAI:	109380576(DES)

RFQ:	117026098(DES)

PALE:

102898563(DES)

PGIG:

120587689(DES)

PVP:	105291105(DES)

RAY:	107516772(DES)

MJV:	108396108(DES)

TOD:	119256239(DES)

SFUM:

130020986(DES)

SETR:

126001060(DES)

LAV:	100659222(DES)

TMU:

101352530

ETF:	101640979(DES)

DNM:	101434376(DES)

MDO:	100010017(DES)

GAS:	123242748(DES)

SHR:	100932098(DES)

AFZ:

127553071

PCW:	110219459(DES)

TVP:	118845280(DES)

PBRV:

138174314(DES)

OAA:	100082569(DES)

TACU:

119950258(DES)

GGA:	395906(DES)

PCOC:

116232951(DES)

MGP:	100538429(DES)

CJO:	107316993(DES)

TPAI:

128077056(DES)

LMUT:

125696602(DES)

NMEL:

110399193(DES)

APLA:

119717442(DES)

ACYG:

125183766(DES)

CATA:

118260802(DES)

AFUL:

116490985(DES)

TGU:	100220724(DES)

LSR:	110468409(DES)

SCAN:

103814374(DES)

PMOA:

120496829(DES)

OTC:	121335291(DES)

PRUF:

121356788(DES)

GFR:	102038310(DES)

FAB:	101808737(DES)

OMA:	130255624(DES)

PHI:	102104330(DES)

PMAJ:

107207827(DES)

CCAE:

111945297(DES)

CCW:	104694186(DES)

CBRC:

103611192(DES)

ACOE:

138113051(DES)

ETL:	114055050(DES)

ZAB:	102068875(DES)

ZLE:	135450456(DES)

ACHL:

103797561(DES)

SVG:	106860302(DES)

MMEA:

130574402(DES)

HRT:	120755156(DES)

SATI:

136363573(DES)

FPG:	101923458(DES)

FCH:	114016843(DES)

CCRI:

104159927(DES)

NNT:	104402545(DES)

SHAB:

115608291(DES)

ACUN:

113482255(DES)

TALA:

116959593(DES)

ACHC:

115343268(DES)

HLE:	104832004(DES)

AGEN:

126042779

HHAR:

128144450(DES)

GCL:

127018170

CSTI:

104561892

LDI:

104355004

MNB:	103778637(DES)

DPUB:

104309792(DES)

PPUS:

135186647(DES)

AVIT:

104273564

BRHI:

104492579

EGZ:	104132414(DES)

NNI:	104010052(DES)

PADL:

103920507(DES)

AFOR:

103895363(DES)

CLV:	102087803(DES)

MUI:	104539052(DES)

PGUU:

104469003

EHS:

104507591

CMAC:

104481983

CUCA:

104054510(DES)

CPEA:

104387505(DES)

CVF:	104285663(DES)

RTD:	128913116(DES)

AAM:	106499086(DES)

AROW:

112972038(DES)

NPD:	112949841(DES)

TGT:	104568453(DES)

DNE:	112980176(DES)

SCAM:

104144956(DES)

ASN:	102371510(DES)

AMJ:	102568561(DES)

GGN:	109301486(DES)

CMY:	102935705(DES)

CCAY:

125644583(DES)

DCC:	119863707(DES)

CPIC:

101946523(DES)

CABI:

116824857 116827868(DES)

MRV:	120374726(DES)

ACS:	100560815(des)

ASAO:

132773629(DES)

PVT:	110078198(DES)

SUND:

121934834(DES)

PBI:	103049375(DES)

PMUR:

107288118(DES)

CTIG:

120312988(DES)

TSR:	106542635(DES)

PGUT:

117675292(DES)

PTEX:

113441127(DES)

NSS:	113410830(DES)

VKO:	123027421(DES)

PMUA:

114602680(DES)

PRAF:

128419852(DES)

ZVI:	118090736(DES)

HCG:	128339395(DES)

GJA:	107123635(DES)

STOW:

125426704(DES)

EMC:	129323845(DES)

XLA:	100126634(des.2.L) 379869(des.1.S) 446868(des.1.L) 733312(des.2.S)

XTR:	100490404(des.2) 394739(des.1)

NPR:	108785786(DES) 108793963

RTEM:

120937146 120944187(DES)

BBUF:

120998219 121008866(DES)

BGAR:

122936146 122944910(DES)

MUO:	115473915(DES)

GSH:	117360930(DES)

DRE:	30148(desma) 572199(ngs) 768287(desmb)

SRX:	107705613 107710103 107711723 107716787 107716818 107721591 107725974 107748575

SANH:

107656267 107658888 107660100 107668394 107683363 107688742 107688844 107700752

SGH:	107551085 107566324 107566784 107577100 107579501 107583969 107587895 107602901

CCAR:

109055480 109069509 109090682 109099902 109106590 109107670 109109490 109109681

CAUA:

113050775 113053569 113056294 113058366 113071857 113078658 113093784 113095709 113100080 113108885 113116817

CGIB:

127956876 127959957 127965171 127970417 128015402 128019618

PTET:

122342785(ngs) 122346992(desmb) 122351773(desma)

LROH:

127163760(ngs) 127166451(desmb) 127171252(desma) 127177990(zgc:172323)

OMC:	131539011(ngs) 131542236(desmb) 131546639(desma)

PPRM:

120476603(ngs) 120487161(desma) 120491462(desmb)

RKG:	130069538(ngs) 130101218(desmb)

MAMB:

125245485(ngs) 125270122(desma) 125274295(desmb)

CIDE:

127511006 127514453 127518564

CERY:

137011172(desmb) 137023840(ngs) 137035966(desma)

MASI:

127435069 127436806 127446619 127447290 127448462 127449281

TROS:

130547529(ngs) 130556023(desma) 130556273(desmb)

TDW:	130420851(ngs) 130424331(desmb) 130427835(desma)

MANU:

129432784(ngs) 129452152(desma)

IPU:	108267036(desma) 108273275(desmb) 108279699(ngs)

IFU:	128608992(desma) 128615526(desmb) 128623189(ngs)

PHYP:

113525892 113531848 113538254

SMEO:

124382934(desma) 124385962(desmb) 124401502(ngs)

TFD:	113634430(desmb) 113645598(ngs) 113654597(desma)

TVC:	132844808(desmb) 132850309(desma) 132858738 132858739 132859196(ngs)

TRN:	134316460(desmb) 134323109(ngs) 134323902(desma)

AMEX:

103037132(desma) 103039642(desmb) 125799119(ngs)

CMAO:

118803922(zgc:172323) 118806988(desma) 118807757(desmb) 118812287(ngs)

EEE:	113574022(des) 113578119 113578986 113584275

CHAR:

105889784 105889785 105891554(desma) 105892683 105897604(zgc:172323) 105911993 116221739

SPIL:

134071057(desmb) 134078752(desma) 134097436 134097438

TRU:	101062838(des) 101066771 101070536

TFS:	130522349 130533629

TNG:	GSTEN00030489G001 GSTEN00031840G001

LCO:	104925630 104928646 104934607

NCC:	104941964(des) 104966922

TBEN:

117485833 117499198(desmb)

CGOB:

115017379 115026005

PGEO:

117466417(desma)

GACU:

117533151 117538349(desma)

EMAC:

134860811(desmb) 134867174

ELY:	117250020(desmb) 117251131(desma)

EFO:	125884835(desmb) 125899635(desma)

PLEP:

121948741(desma) 121963055

SLUC:

116044412(desmb) 116049956(desma)

ECRA:

117939684 117952738(desma)

ESP:	116673865 116697691

PFLV:

114551002(des) 114563924

GAT:	120826845 120833854(desma)

PPUG:

119228859(desma)

AFB:	129104263(desma) 129111516(desmb)

CLUM:

117750273(desma)

PSWI:

130207899(desma)

CANA:

137783310(desma)

CVE:	137866773 137878839(desmb)

MSAM:

119900385(desmb) 119903982(desma) 119908597(ngs)

SCHU:

122871831(desmb) 122885633(desma)

CUD:	121522957(desma)

SPUL:

138592901(desma) 138603434

LMIX:

132959791(desmb) 132987282(desma)

ALAT:

119015244(desmb) 119026019(desma)

ASTR:

137591520(desmb) 137605370

MZE:	101472777 101473544 101474167

ONL:	100695133 100695476

OAU:	116312906(desma) 116316877(desmb)

OLA:	101166836 101174730

OML:	112155501(desma) 112156785(desmb)

CSAI:

133425359 133446028(desma)

XMA:	102218935 102223033 106700119

XCO:	114140582 114148144(des)

XHE:	116715682 116715694 116723674

PRET:

103456733 103457941 103461632

PFOR:

103154128(des) 103155626 103156549 103156550

PLAI:

106941538 106949521(des) 106958920 106961413

PMEI:

106904310 106904311 106904693 106919589(des)

GAF:	122826953(desmb) 122839716(desma)

PPRL:

129356627 129361362(desma)

CVG:	107092272 107096834(des) 107103861

CTUL:

119788730(desma) 119794675(desmb) 119794821

GMU:	124861937 124861943(desmb) 124871904(desma)

NFU:	107384642(des) 107384652 107390157

KMR:	108229466(desmb) 108240425 108246810 108246820

ALIM:

106514794 106527034(des) 106527440 106532578

NWH:	119419566(desma) 119428645 119428744(desmb)

AOCE:

111562625 111585944 111588272

EJA:	138201264 138206925(desmb)

BFRE:

138620914 138630206(ngs) 138633868(desmb)

MCEP:

125001002(desmb) 125017336(desma)

CSEM:

103380782 103389544(des) 103392079

POV:	109631342 109632604 109640229(des)

SSEN:

122758903 122761648(desmb)

HHIP:

117754690 117778074

HSP:	118103471(desmb) 118119722

PPLT:

128431199 128455887(desma)

SMAU:

118282974(desma) 118299562(desmb)

LCF:	108873150 108880418(desma) 108896785

SDU:	111216405 111218223 111222646(des)

SLAL:

111671499 111672422(des) 111672694

XGL:	120789179(ngs) 120798088(desmb) 120801520(desma)

HCQ:	109523363(des)

SSCV:

125973666(desma)

SBIA:

133512014(desma)

PEE:	133410363(desma)

PTAO:

133468704(ngs) 133486422(desma)

BPEC:

110159961

MALB:

109955656 109964388

BSPL:

114845862(desmb) 114847443(desma)

SJO:	128354526 128367561(desma)

SSCO:

133976301(desmb) 133992537(desma) 133997750(ngs)

SASA:

106571488 106574241 106575168 106582512 106583978 106586915 106596437 106605028 106607953

STRU:

115155439 115161413 115174683 115179313 115196034

OTW:	112222579 112239724 112239769 112245182 112251749 112253826 112267721

OMY:	110495865 110517324 110520662 110527484 110529701(ngs)

OGO:	123990358(ngs) 124010862 124032616 124044297

ONE:	115107321 115124880 115129707 115133454(des)

OKI:	109875774 109878201 109881392 109884437 109900277

OKE:	118363166 118369988 118376974 118381252 118397795(ngs)

SALP:

111964699 112067807

SNH:	120023969 120033715 120037894 120051284 120063701

CCLU:

121536445 121552512(ngs) 121554946 121579549 123488359

ELS:	105017703 105019949 105028976 105030351

SFM:	108920718(des) 108929209 108937216 108942119

PKI:	111840742(des) 111844492 111851574 111852232

AANG:

118214066(desma) 118223729 118230887(ngs)

AROT:

135240649(desma) 135251721 135256892(ngs) 135258767(zgc:172323)

CCOG:

133110251(zgc:172323) 133116530 133123383 133129758(ngs)

LOC:	102691656 102694165(des)

PSPA:

121316249 121317705 121322891(desmb)

ARUT:

117401410 117402381

PSEX:

120526802(zgc:172323) 120531277

LCM:	102364128 102367043(DES)

CMK:	103172839 103178301(zgc:172323)

RTP:	109916745(zgc:172323) 109921682(desmb)

CPLA:

122547043 122551819

HOC:	132805601(zgc:172323) 132817712

LERI:

129693784 129697384(zgc:172323)

PMRN:

116937486 116950144

LRJ:

133345313

BFO:

118409118

BBEL:

109471947 109471948 109476581 109480530

CIN:	100179283 100182102

SCLV:

120342989 120348267

» show all

Reference

PMID:23687351

Authors

Cetin N, Balci-Hayta B, Gundesli H, Korkusuz P, Purali N, Talim B, Tan E, Selcen D, Erdem-Ozdamar S, Dincer P

Title

A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.

Journal

J Med Genet 50:437-43 (2013)
DOI:10.1136/jmedgenet-2012-101487

Sequence

[hsa:1674]

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Disease (4)   
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Gene (1558)   
   KEGG GENES (698)   
   KEGG MGENES (268)   
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