Seroatlas · Human Serome Atlas

SYNE2

Nesprin-2

Also known as: DKFZP434H2235, KIAA1011, Nesp2, Nesprin-2, NUA, NUANCE, SYNE-2, SYNE2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8WXH0
Gene: SYNE2
Ensembl: ENSG00000054654
Chromosome: 14
Canonical length: 6885 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nuclear membrane,Intermediate filaments,Primary cilium

OverviewNCBI Gene

The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

6885 residues, UniProt reviewed canonical sequence.

>Q8WXH0|SYNE2
     1  MASSPELPTE DEQGSWGIDD LHISLQAEQE DTQKKAFTCW INSQLARHTS PSVISDLFTD
    61  IKKGHVLLDL LEVLSGQQLP RDKGSNTFQC RINIEHALTF LRNRSIKLIN IHVTDIIDGN
   121  PSIILGLIWT IILHFHIEKL AQTLSCNYNQ PSLDDVSVVD SSPASSPPAK KCSKVQARWQ
   181  MSARKALLLW AQEQCATYES VNVTDFKSSW RNGMAFLAII HALRPDLIDM KSVKHRSNKD
   241  NLREAFRIAE QELKIPRLLE PEDVDVVDPD EKSIMTYVAQ FLQYSKDAPG TGEEAQGKVK
   301  DAMGWLTLQK EKLQKLLKDS ENDTYFKKYN SLLSFMESFN EEKKSFLDVL SIKRDLDELD
   361  KDHLQLREAW DGLDHQINAW KIKLNYALPP PLHQTEAWLQ EVEELMDEDL SASQDHSQAV
   421  TLIQEKMTLF KSLMDRFEHH SNILLTFENK DENHLPLVPP NKLEEMKRRI NNILEKKFIL
   481  LLEFHYYKCL VLGLVDEVKS KLDIWNIKYG SRESVELLLE DWHKFIEEKE FLARLDTSFQ
   541  KCGEIYKNLA GECQNINKQY MMVKSDVCMY RKNIYNVKST LQKVLACWAT YVENLRLLRA
   601  CFEETKKEEI KEVPFETLAQ WNLEHATLNE AGNFLVEVSN DVVGSSISKE LRRLNKRWRK
   661  LVSKTQLEMN LPLMIKKQDQ PTFDNSGNIL SKEEKATVEF STDMSVELPE NYNQNIKAGE
   721  KHEKENEEFT GQLKVAKDVE KLIGQVEIWE AEAKSVLDQD DVDTSMEESL KHLIAKGSMF
   781  DELMARSEDM LQMDIQNISS QESFQHVLTT GLQAKIQEAK EKVQINVVKL IAALKNLTDV
   841  SPDLDIRLKM EESQKELESY MMRAQQLLGQ RESPGELISK HKEALIISNT KSLAKYLKAV
   901  EELKNNVTED IKMSLEEKSR DVCAKWESLH HELSLYVQQL KIDIEKGKLS DNILKLEKQI
   961  NKEKKLIRRG RTKGLIKEHE ACFSEEGCLY QLNHHMEVLR ELCEELPSQK SQQEVKRLLK
  1021  DYEQKIERLL KCASEIHMTL QPTAGGTSKN EGTITTSENR GGDPHSEAPF AKSDNQPSTE
  1081  KAMEPTMKFS LASVLRPLQE ESIMEKDYSA SINSLLERYD TYRDILEHHL QNNKFRITSD
  1141  FSSEEDRSSS CLQAKLTDLQ VIKNETDARW KEFEIISLKL ENHVNDIKKP FVIKERDTLK
  1201  ERERELQMTL NTRMESLETA LRLVLPVEKA SLLLCGSDLP LHKMAIQGFH LIDADRIYQH
  1261  LRNIQDSIAK QIEICNRLEE PGNFVLKELH PFDLHAMQNI ILKYKTQFEG MNHRVQRSED
  1321  TLKALEDFLA SLRTAKLSAE PVTDLSASDT QVAQENTLTV KNKEGEIHLM KDKAKHLDKC
  1381  LKMLDMSFKD AERGDDTSCE NLLDAFSIKL SETHGYGVQE EFTEENKLLE ACIFKNNELL
  1441  KNIQDVQSQI SKIGLKDPTV PAVKHRKKSL IRLDKVLDEY EEEKRHLQEM ANSLPHFKDG
  1501  REKTVNQQCQ NTVVLWENTK ALVTECLEQC GRVLELLKQY QNFKSILTTL IQKEESVISL
  1561  QASYMGKENL KKRIAEIEIV KEEFNEHLEV VDKINQVCKN LQFYLNKMKT FEEPPFEKEA
  1621  NIIVDRWLDI NEKTEDYYEN LGRALALWDK LFNLKNVIDE WTEKALQKME LHQLTEEDRE
  1681  RLKEELQVHE QKTSEFSRRV AEIQFLLQSS EIPLELQVME SSILNKMEHV QKCLTGESNC
  1741  HALSGSTAEL REDLDQAKTQ IGMTESLLKA LSPSDSLEIF TKLEEIQQQI LQQKHSMILL
  1801  ENQIGCLTPE LSELKKQYES VSDLFNTKKS VLQDHFSKLL NDQCKNFNDW FSNIKVNLKE
  1861  CFESSETKKS VEQKLQKLSD FLTLEGRNSK IKQVDSVLKH VKKHLPKAHV KELISWLVGQ
  1921  EFELEKMESI CQARAKELED SLQQLLRLQD DHRNLRKWLT NQEEKWKGME EPGEKTELFC
  1981  QALARKREQF ESVAQLNNSL KEYGFTEEEE IIMEATCLMD RYQTLLRQLS EIEEEDKLLP
  2041  TEDQSFNDLA HDVIHWIKEI KESLMVLNSS EGKMPLEERI QKIKEIILLK PEGDARIETI
  2101  MKQAESSEAP LVQKTLTDIS NQWDNTLHLA STYLSHQEKL LLEGEKYLQS KEDLRLMLIE
  2161  LKKKQEAGFA LQHGLQEKKA QLKIYKKFLK KAQDLTSLLK ELKSQGNYLL ECTKNPSFSE
  2221  EPWLEIKHLH ESLLQQLQDS VQNLDGHVRE HDSYQVCVTD LNTTLDNFSK EFVSFSDKPV
  2281  DQIAVEEKLQ KLQELENRLS LQDGTLKKIL ALAKSVKQNT SSVGQKIIKD DIKSLQCKQK
  2341  DLENRLASAK QEMECCLNSI LKSKRSTEKK GKFTLPGREK QATSDVQEST QESAAVEKLE
  2401  EDWEINKDSA VEMAMSKQLS LNAQESMKNT EDERKVNELQ NQPLELDTML RNEQLEEIEK
  2461  LYTQLEAKKA AIKPLEQTEC LNKTETGALV LHNIGYSAQH LDNLLQALIT LKKNKESQYC
  2521  VLRDFQEYLA AVESSMKALL TDKESLKVGP LDSVTYLDKI KKFIASIEKE KDSLGNLKIK
  2581  WENLSNHVTD MDKKLLESQI KQLEHGWEQV EQQIQKKYSQ QVVEYDEFTT LMNKVQDTEI
  2641  SLQQQQQHLQ LRLKSPEERA GNQSMIALTT DLQATKHGFS VLKGQAELQM KRIWGEKEKK
  2701  NLEDGINNLK KQWETLEPLH LEAENQIKKC DIRNKMKETI LWAKNLLGEL NPSIPLLPDD
  2761  ILSQIRKCKV THDGILARQQ SVESLAEEVK DKVPSLTTYE GSDLNNTLED LRNQYQMLVL
  2821  KSTQRSQQLE FKLEERSNFF AIIRKFQLMV QESETLIIPR VETAATEAEL KHHHVTLEAS
  2881  QKELQEIDSG ISTHLQELTN IYEELNVFER LFLEDQLKNL KIRTNRIQRF IQNTCNEVEH
  2941  KIKFCRQFHE KTSALQEEAD SIQRNELLLN QEVNKGVKEE IYNLKDRLTA IKCCILQVLK
  3001  LKKVFDYIGL NWDFSQLDQL QTQVFEKEKE LEEKIKQLDT FEEEHGKYQA LLSKMRAIDL
  3061  QIKKMTEVVL KAPDSSPESR RLNAQILSQR IEKAKCLCDE IIKKLNENKT FDDSFKEKEI
  3121  LQIKLNAEEN DKLYKVLQNM VLELSPKELD EKNCQDKLET SLHVLNQIKS QLQQPLLINL
  3181  EIKHIQNEKD NCEAFQEQVW AEMCSIKAVT AIEKQREENS SEASDVETKL REFEDLQMQL
  3241  NTSIDLRTNV LNDAYENLTR YKEAVTRAVE SITSLEAIII PYRVDVGNPE ESLEMPLRKQ
  3301  EELESTVAHI QDLTEKLGMI SSPEAKLQLQ YTLQELVSKN SAMKEAFKAQ ETEAERYLEN
  3361  YKCYRKMEED IYTNLSKMET VLGQSMSSLP LSYREALERL EQSKALVSNL ISTKEELMKL
  3421  RQILRLLRLR CTENDGICLL KIVSALWEKW LSLLEAAKEW EMWCEELKQE WKFVSEEIER
  3481  EAIILDNLQE ELPEISKTKE AATTEELSEL LDCLCQYGEN VEKQQLLLTL LLQRIRSIQN
  3541  VPESSGAVET VPAFQEITSM KERCNKLLQK VQKNKELVQT EIQERHSFTK EIIALKNFFQ
  3601  QTTTSFQNMA FQDHPEKSEQ FEELQSILKK GKLTFENIME KLRIKYSEMY TIVPAEIESQ
  3661  VEECRKALED IDEKISNEVL KSSPSYAMRR KIEEINNGLH NVEKMLQQKS KNIEKAQEIQ
  3721  KKMWDELDLW HSKLNELDSE VQDIVEQDPG QAQEWMDNLM IPFQQYQQVS QRAECRTSQL
  3781  NKATVKMEEY SDLLKSTEAW IENTSHLLAN PADYDSLRTL SHHASTVQMA LEDSEQKHNL
  3841  LHSIFMDLED LSIIFETDEL TQSIQELSNQ VTALQQKIME SLPQIQRMAD DVVAIESEVK
  3901  SMEKRVSKIK TILLSKEIFD FSPEEHLKHG EVILENIRPM KKTIAEIVSY QVELRLPQTG
  3961  MKPLPVFQRT NQLLQDIKLL ENVTQEQNEL LKVVIKQTNE WDEEIENLKQ ILNNYSAQFS
  4021  LEHMSPDQAD KLPQLQGEIE RMEKQILSLN QRKEDLLVDL KATVLNLHQH LKQEQEGVER
  4081  DRLPAVTSEE GGVAERDASE RKLNRRGSMS YLAAVEEEVE ESSVKSDNGD EKAEPSPQSW
  4141  SSLWKHDKDM EEDRASSSSG TIVQEAYGKI STSDNSMAQI LTPDSLNTEQ GPECSLRPNQ
  4201  TEEGTTPPIE ADTLDSSDAQ GGLEPRVEKT RPEPTEVLHA CKTQVAELEL WLQQANVAVE
  4261  PETLNADMQQ VLEQQLVGCQ AMLTEIEHKV AFLLETCKDQ GLGDNGATQH EAEALSLKLK
  4321  TVKCNLEKVQ MMLQEKHSED QHPTILKKSS EPEHQEALQP VNLSELESIV TERPQFSRQK
  4381  DFQQQQVLEL KPMEQKDFIK FIEFNAKKMW PQYCQHDNDT TQESSASNQA SSPENDVPDS
  4441  ILSPQGQNGD KWQYLHHELS SKIKLPLPQL VEPQVSTNMG ILPSVTMYNF RYPTTEELKT
  4501  YTTQLEDLRQ EASNLQTQEN MTEEAYINLD KKLFELFLTL SQCLSSVEEM LEMPRLYRED
  4561  GSGQQVHYET LALELKKLYL ALSDKKGDLL KAMTWPGENT NLLLECFDNL QVCLEHTQAA
  4621  AVCRSKSLKA GLDYNRSYQN EIKRLYHQLI KSKTSLQQSL NEISGQSVAE QLQKADAYTV
  4681  ELENAESRVA KLRDEGERLH LPYALLQEVY KLEDVLDSMW GMLRARYTEL SSPFVTESQQ
  4741  DALLQGMVEL VKIGKEKLAH GHLKQTKSKV ALQAQIENHK VFFQKLVADM LLIQAYSAKI
  4801  LPSLLQNRET FWAEQVTEVK ILEEKSRQCG MKLQSLLQKW EEFDENYASL EKDLEILIST
  4861  LPSVSLVEET EERLVERISF YQQIKRNIGG KHARLYQTLN EGKQLVASVS CPELEGQIAK
  4921  LEEQWLSLNK KIDHELHRLQ ALLKHLLSYN RDSDQLTKWL ESSQHTLNYW KEQSLNVSQD
  4981  LDTIRSNINN FFEFSKEVDE KSSLKTAVIS IGNQLLHLKE TDTATLRASL AQFEQKWTML
  5041  ITQLPDIQEK LHQLQMEKLP SRKAITEMIS WMNNVEHQTS DEDSVHSPSS ASQVKHLLQK
  5101  HKEFRMEMDY KQWIVDFVNQ SLLQLSTCDV ESKRYERTEF AEHLGEMNRQ WHRVHGMLNR
  5161  KIQHLEQLLE SITESENKIQ ILNNWLEAQE ERLKTLQKPE SVISVQKLLL DCQDIENQLA
  5221  IKSKALDELK QSYLTLESGA VPLLEDTASR IDELFQKRSS VLTQVNQLKT SMQSVLQEWK
  5281  IYDQLYDEVN MMTIRFWYCM EHSKPVVLSL ETLRCQVENL QSLQDEAESS EGSWEKLQEV
  5341  IGKLKGLCPS VAEIIEEKCQ NTHKRWTQVN QAIADQLQKA QSLLQLWKAY SNAHGEAAAR
  5401  LKQQEAKFQQ LANISMSGNN LAEILPPALQ DIKELQHDVQ KTKEAFLQNS SVLDRLPQPA
  5461  ESSTHMLLPG PLHSLQRAAY LEKMLLVKAN EFEFVLSQFK DFGVRLESLK GLIMHEEENL
  5521  DRLHQQEKEN PDSFLNHVLA LTAQSPDIEH LNEVSLKLPL SDVAVKTLQN MNRQWIRATA
  5581  TALERCSELQ GIGLNEKFLY CCEKWIQLLE KIEEALKVDV ANSLPELLEQ QKTYKMLEAE
  5641  VSINQTIADS YVTQSLQLLD TTEIENRPEF ITEFSKLTDR WQNAVQGVRQ RKGDVDGLVR
  5701  QWQDFTTSVE NLFRFLTDTS HLLSAVKGQE RFSLYQTRSL IHELKNKEIH FQRRRTTCAL
  5761  TLEAGEKLLL TTDLKTKESV GRRISQLQDS WKDMEPQLAE MIKQFQSTVE TWDQCEKKIK
  5821  ELKSRLQVLK AQSEDPLPEL HEDLHNEKEL IKELEQSLAS WTQNLKELQT MKADLTRHVL
  5881  VEDVMVLKEQ IEHLHRQWED LCLRVAIRKQ EIEDRLNTWV VFNEKNKELC AWLVQMENKV
  5941  LQTADISIEE MIEKLQKDCM EEINLFSENK LQLKQMGDQL IKASNKSRAA EIDDKLNKIN
  6001  DRWQHLFDVI GSRVKKLKET FAFIQQLDKN MSNLRTWLAR IESELSKPVV YDVCDDQEIQ
  6061  KRLAEQQDLQ RDIEQHSAGV ESVFNICDVL LHDSDACANE TECDSIQQTT RSLDRRWRNI
  6121  CAMSMERRMK IEETWRLWQK FLDDYSRFED WLKSAERTAA CPNSSEVLYT SAKEELKRFE
  6181  AFQRQIHERL TQLELINKQY RRLARENRTD TASRLKQMVH EGNQRWDNLQ RRVTAVLRRL
  6241  RHFTNQREEF EGTRESILVW LTEMDLQLTN VEHFSESDAD DKMRQLNGFQ QEITLNTNKI
  6301  DQLIVFGEQL IQKSEPLDAV LIEDELEELH RYCQEVFGRV SRFHRRLTSC TPGLEDEKEA
  6361  SENETDMEDP REIQTDSWRK RGESEEPSSP QSLCHLVAPG HERSGCETPV SVDSIPLEWD
  6421  HTGDVGGSSS HEEDEEGPYY SALSGKSISD GHSWHVPDSP SCPEHHYKQM EGDRNVPPVP
  6481  PASSTPYKPP YGKLLLPPGT DGGKEGPRVL NGNPQQEDGG LAGITEQQSG AFDRWEMIQA
  6541  QELHNKLKIK QNLQQLNSDI SAITTWLKKT EAELEMLKMA KPPSDIQEIE LRVKRLQEIL
  6601  KAFDTYKALV VSVNVSSKEF LQTESPESTE LQSRLRQLSL LWEAAQGAVD SWRGGLRQSL
  6661  MQCQDFHQLS QNLLLWLASA KNRRQKAHVT DPKADPRALL ECRRELMQLE KELVERQPQV
  6721  DMLQEISNSL LIKGHGEDCI EAEEKVHVIE KKLKQLREQV SQDLMALQGT QNPASPLPSF
  6781  DEVDSGDQPP ATSVPAPRAK QFRAVRTTEG EEETESRVPG STRPQRSFLS RVVRAALPLQ
  6841  LLLLLLLLLA CLLPSSEEDY SCTQANNFAR SFYPMLRYTN GPPPT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SYNE2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0
Highest tissue expression: 186 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 186 nTPM
tongue: 90 nTPM
parathyroid gland: 62 nTPM
heart muscle: 51 nTPM
pancreas: 36 nTPM
skin: 32 nTPM

Single-cell type

proximal tubule cells: 2,203 nCPM
sertoli cells: 2,034 nCPM
neutrophils: 1,745 nCPM
endometrial glandular cells: 1,128 nCPM
rod photoreceptor cells: 1,087 nCPM
salivary ionocytes: 1,081 nCPM

Immune cell

eosinophil: 74 nTPM
gdT-cell: 39 nTPM
T-reg: 30 nTPM
neutrophil: 30 nTPM
memory CD8 T-cell: 28 nTPM
MAIT T-cell: 28 nTPM

Brain region

choroid plexus: 188 nTPM
cerebellum: 43 nTPM
thalamus: 24 nTPM
midbrain: 20 nTPM
hippocampal formation: 19 nTPM
basal ganglia: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SYNE2.

Disease | AllUniProt

Conditions SYNE2 is implicated in, by any mechanism.

Emery-Dreifuss muscular dystrophy 5, autosomal dominant (EDMD5) MIM:612999

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 4,825 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Cerebral palsy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.37
gnomAD pLI: 0
gnomAD missense Z: -1.45
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SYNE2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SYNE2 as an antibody target. Whether an autoantibody or antibody against SYNE2 could matter depends on whether native SYNE2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SYNE2 is annotated at the cell surface, where native SYNE2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label SYNE2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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