Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23224
Gene name	Spectrin repeat containing nuclear envelope protein 2
Gene symbol	SYNE2
Synonyms (NCBI Gene)	EDMD5KASH2NUANUANCENesp2Nesprin-2SYNE-2TROPH
Chromosome	14
Chromosome location	14q23.2
Summary	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 e

Show/Hide all (40)

SNP ID	Visualize variation	Clinical significance	Consequence
rs36215895	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs74975380	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs112833938	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs138514054	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs138644399	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant
rs138769395	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic upstream transcript variant, genic downstream transcript variant
rs138797058	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs140265039	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs140897155	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs141051652	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, genic downstream transcript variant
rs141379692	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant
rs143578863	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs143927906	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs144143344	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs144596211	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs145036293	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs146573874	A>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs148708516	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs149296737	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs149978500	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs186839881	C>A,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant, upstream transcript variant, missense variant
rs187859624	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, genic downstream transcript variant, intron variant
rs192128801	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs200061977	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs200742016	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs200893674	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs200937358	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, genic downstream transcript variant
rs201176149	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs201466326	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs370541277	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs370800852	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs372251838	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs373646325	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs374751877	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs745516407	G>A,T	Uncertain-significance, likely-pathogenic	Intron variant, genic upstream transcript variant, genic downstream transcript variant, splice donor variant
rs755277543	TTCT>-	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, genic downstream transcript variant
rs768388576	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant, genic downstream transcript variant
rs778028287	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs786205488	C>A,T	Likely-pathogenic	Stop gained, non coding transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs1064797188	G>A,C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant

131

Show/Hide all (131)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001498	hsa-miR-155-5p	pSILAC	18668040
MIRT016274	hsa-miR-193b-3p	Microarray	20304954
MIRT019254	hsa-miR-148b-3p	Microarray	17612493
MIRT001498	hsa-miR-155-5p	Proteomics;Other	18668040
MIRT021366	hsa-miR-9-5p	Microarray	17612493
MIRT023596	hsa-miR-1-3p	Proteomics	18668040
MIRT025264	hsa-miR-34a-5p	Proteomics	21566225
MIRT025264	hsa-miR-34a-5p	Proteomics	21566225
MIRT029118	hsa-miR-26b-5p	Microarray	19088304
MIRT030732	hsa-miR-21-5p	Microarray	18591254
MIRT052060	hsa-let-7b-5p	CLASH	23622248
MIRT041646	hsa-miR-484	CLASH	23622248
MIRT439502	hsa-miR-485-5p	HITS-CLIP	24374217
MIRT439501	hsa-miR-376a-5p	HITS-CLIP	24374217
MIRT439500	hsa-miR-543	HITS-CLIP	24374217
MIRT439502	hsa-miR-485-5p	HITS-CLIP	24374217
MIRT439501	hsa-miR-376a-5p	HITS-CLIP	24374217
MIRT439500	hsa-miR-543	HITS-CLIP	24374217
MIRT1405707	hsa-miR-1202	CLIP-seq
MIRT1405708	hsa-miR-1204	CLIP-seq
MIRT1405709	hsa-miR-146b-3p	CLIP-seq
MIRT1405710	hsa-miR-22	CLIP-seq
MIRT1405711	hsa-miR-3130-3p	CLIP-seq
MIRT1405712	hsa-miR-3173-5p	CLIP-seq
MIRT1405713	hsa-miR-3185	CLIP-seq
MIRT1405714	hsa-miR-3194-5p	CLIP-seq
MIRT1405715	hsa-miR-3198	CLIP-seq
MIRT1405716	hsa-miR-320a	CLIP-seq
MIRT1405717	hsa-miR-320b	CLIP-seq
MIRT1405718	hsa-miR-320c	CLIP-seq
MIRT1405719	hsa-miR-320d	CLIP-seq
MIRT1405720	hsa-miR-330-3p	CLIP-seq
MIRT1405721	hsa-miR-371b-5p	CLIP-seq
MIRT1405722	hsa-miR-378g	CLIP-seq
MIRT1405723	hsa-miR-3926	CLIP-seq
MIRT1405724	hsa-miR-3972	CLIP-seq
MIRT1405725	hsa-miR-4270	CLIP-seq
MIRT1405726	hsa-miR-4292	CLIP-seq
MIRT1405727	hsa-miR-4309	CLIP-seq
MIRT1405728	hsa-miR-4422	CLIP-seq
MIRT1405729	hsa-miR-4429	CLIP-seq
MIRT1405730	hsa-miR-4437	CLIP-seq
MIRT1405731	hsa-miR-4441	CLIP-seq
MIRT1405732	hsa-miR-4539	CLIP-seq
MIRT1405733	hsa-miR-4660	CLIP-seq
MIRT1405734	hsa-miR-4674	CLIP-seq
MIRT1405735	hsa-miR-4685-5p	CLIP-seq
MIRT1405736	hsa-miR-4698	CLIP-seq
MIRT1405737	hsa-miR-4731-5p	CLIP-seq
MIRT1405738	hsa-miR-4762-3p	CLIP-seq
MIRT1405739	hsa-miR-4793-3p	CLIP-seq
MIRT1405740	hsa-miR-509-3p	CLIP-seq
MIRT1405741	hsa-miR-548a-3p	CLIP-seq
MIRT1405742	hsa-miR-548aa	CLIP-seq
MIRT1405743	hsa-miR-548e	CLIP-seq
MIRT1405744	hsa-miR-548f	CLIP-seq
MIRT1405745	hsa-miR-548s	CLIP-seq
MIRT1405746	hsa-miR-555	CLIP-seq
MIRT1405747	hsa-miR-568	CLIP-seq
MIRT1405748	hsa-miR-587	CLIP-seq
MIRT1405749	hsa-miR-874	CLIP-seq
MIRT1405750	hsa-miR-106a	CLIP-seq
MIRT1405751	hsa-miR-106b	CLIP-seq
MIRT1405752	hsa-miR-1256	CLIP-seq
MIRT1405753	hsa-miR-1271	CLIP-seq
MIRT1405754	hsa-miR-1276	CLIP-seq
MIRT1405755	hsa-miR-17	CLIP-seq
MIRT1405756	hsa-miR-182	CLIP-seq
MIRT1405757	hsa-miR-20a	CLIP-seq
MIRT1405758	hsa-miR-20b	CLIP-seq
MIRT1405759	hsa-miR-2278	CLIP-seq
MIRT1405760	hsa-miR-302a	CLIP-seq
MIRT1405761	hsa-miR-302b	CLIP-seq
MIRT1405762	hsa-miR-302c	CLIP-seq
MIRT1405763	hsa-miR-302d	CLIP-seq
MIRT1405764	hsa-miR-302e	CLIP-seq
MIRT1405765	hsa-miR-323-3p	CLIP-seq
MIRT1405766	hsa-miR-3686	CLIP-seq
MIRT1405767	hsa-miR-372	CLIP-seq
MIRT1405768	hsa-miR-373	CLIP-seq
MIRT1405769	hsa-miR-4267	CLIP-seq
MIRT1405770	hsa-miR-4468	CLIP-seq
MIRT1405771	hsa-miR-4642	CLIP-seq
MIRT1405772	hsa-miR-4652-3p	CLIP-seq
MIRT1405733	hsa-miR-4660	CLIP-seq
MIRT1405773	hsa-miR-4699-3p	CLIP-seq
MIRT1405774	hsa-miR-4719	CLIP-seq
MIRT1405775	hsa-miR-4724-5p	CLIP-seq
MIRT1405776	hsa-miR-485-3p	CLIP-seq
MIRT1405777	hsa-miR-495	CLIP-seq
MIRT1405778	hsa-miR-513b	CLIP-seq
MIRT1405779	hsa-miR-519d	CLIP-seq
MIRT1405780	hsa-miR-520a-3p	CLIP-seq
MIRT1405781	hsa-miR-520b	CLIP-seq
MIRT1405782	hsa-miR-520c-3p	CLIP-seq
MIRT1405783	hsa-miR-520d-3p	CLIP-seq
MIRT1405784	hsa-miR-520e	CLIP-seq
MIRT1405785	hsa-miR-520f	CLIP-seq
MIRT1405786	hsa-miR-520g	CLIP-seq
MIRT1405787	hsa-miR-520h	CLIP-seq
MIRT1405747	hsa-miR-568	CLIP-seq
MIRT1405788	hsa-miR-636	CLIP-seq
MIRT1405789	hsa-miR-664	CLIP-seq
MIRT1405790	hsa-miR-760	CLIP-seq
MIRT1405791	hsa-miR-766	CLIP-seq
MIRT1405792	hsa-miR-873	CLIP-seq
MIRT1405793	hsa-miR-93	CLIP-seq
MIRT1405794	hsa-miR-96	CLIP-seq
MIRT1405756	hsa-miR-182	CLIP-seq
MIRT1405765	hsa-miR-323-3p	CLIP-seq
MIRT1405752	hsa-miR-1256	CLIP-seq
MIRT1405753	hsa-miR-1271	CLIP-seq
MIRT2343678	hsa-miR-1297	CLIP-seq
MIRT1405756	hsa-miR-182	CLIP-seq
MIRT2343679	hsa-miR-26a	CLIP-seq
MIRT2343680	hsa-miR-26b	CLIP-seq
MIRT1405766	hsa-miR-3686	CLIP-seq
MIRT2343681	hsa-miR-4465	CLIP-seq
MIRT1405771	hsa-miR-4642	CLIP-seq
MIRT1405772	hsa-miR-4652-3p	CLIP-seq
MIRT1405773	hsa-miR-4699-3p	CLIP-seq
MIRT1405774	hsa-miR-4719	CLIP-seq
MIRT1405794	hsa-miR-96	CLIP-seq
MIRT1405752	hsa-miR-1256	CLIP-seq
MIRT1405756	hsa-miR-182	CLIP-seq
MIRT1405765	hsa-miR-323-3p	CLIP-seq
MIRT2637386	hsa-miR-219-5p	CLIP-seq
MIRT2637387	hsa-miR-4445	CLIP-seq
MIRT2637388	hsa-miR-4782-3p	CLIP-seq
MIRT2637389	hsa-miR-508-3p	CLIP-seq
MIRT1405748	hsa-miR-587	CLIP-seq

Show/Hide all (49)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001650	Component	Fibrillar center	IDA
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	ISS
GO:0005515	Function	Protein binding	IPI	15671068, 17462627, 18396275, 19933576, 22555292, 22632968, 23414517, 23977161, 24880667, 26506308, 28716842, 30833792, 32296183, 33058875, 34818527
GO:0005634	Component	Nucleus	IDA	12118075
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	15671068
GO:0005635	Component	Nuclear envelope	IEA
GO:0005640	Component	Nuclear outer membrane	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	12118075, 15671068
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	15671068
GO:0005739	Component	Mitochondrion	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005925	Component	Focal adhesion	IDA	15671068
GO:0005925	Component	Focal adhesion	IEA
GO:0005929	Component	Cilium	IDA
GO:0007097	Process	Nuclear migration	IEA
GO:0007097	Process	Nuclear migration	IMP	20724637
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IDA	15671068
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0021817	Process	Nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration	IEA
GO:0030016	Component	Myofibril	IEA
GO:0030018	Component	Z disc	IDA	15671068
GO:0030018	Component	Z disc	IEA
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030335	Process	Positive regulation of cell migration	ISS
GO:0031022	Process	Nuclear migration along microfilament	IEA
GO:0031022	Process	Nuclear migration along microfilament	ISS
GO:0031258	Component	Lamellipodium membrane	IDA	15671068
GO:0031527	Component	Filopodium membrane	IDA	15671068
GO:0031965	Component	Nuclear membrane	IDA
GO:0031965	Component	Nuclear membrane	IEA
GO:0031981	Component	Nuclear lumen	IDA	15671068
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA
GO:0034993	Component	Meiotic nuclear membrane microtubule tethering complex	IDA	18396275
GO:0034993	Component	Meiotic nuclear membrane microtubule tethering complex	IEA
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
GO:0051642	Process	Centrosome localization	IEA
GO:0051642	Process	Centrosome localization	IMP	20724637
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:0070161	Component	Anchoring junction	IEA
GO:0140444	Function	Cytoskeleton-nuclear membrane anchor activity	IDA	18396275
GO:0140444	Function	Cytoskeleton-nuclear membrane anchor activity	IEA
GO:1902017	Process	Regulation of cilium assembly	IEA

MIM	HGNC	e!Ensembl
608442	17084	ENSG00000054654

Q8WXH0

Protein name

Nesprin-2 (KASH domain-containing protein 2) (KASH2) (Nuclear envelope spectrin repeat protein 2) (Nucleus and actin connecting element protein) (Protein NUANCE) (Synaptic nuclear envelope protein 2) (Syne-2)

Protein function

Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved

PDB

4DXS , 4FI9 , 6XF1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00307	CH	31 → 137	Calponin homology (CH) domain	Domain
PF00307	CH	181 → 287	Calponin homology (CH) domain	Domain
PF00435	Spectrin	6023 → 6133	Spectrin repeat	Domain
PF00435	Spectrin	6136 → 6242	Spectrin repeat	Domain
PF00435	Spectrin	6551 → 6658	Spectrin repeat	Domain
PF10541	KASH	6828 → 6885	Nuclear envelope localisation domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with higher level in kidney, adult and fetal liver, stomach and placenta. Weakly expressed in skeletal muscle and brain. Isoform 5 is highly expressed in pancreas, skeletal muscle and heart. {ECO:0000269|PubMed:156710

Sequence

MASSPELPTEDEQGSWGIDDLHISLQAEQEDTQKKAFTCWINSQLARHTSPSVISDLFTD
IKKGHVLLDLLEVLSGQQLPRDKGSNTFQCRINIEHALTFLRNRSIKLINIHVTDIIDGN
PSIILGLIWTIILHFHIEKLAQTLSCNYNQPSLDDVSVVDSSPASSPPAKKCSKVQARWQ
MSARKALLLWAQEQCATYESVNVTDFKSSWRNGMAFLAIIHALRPDLIDMKSVKHRSNKD
NLREAFRIAEQELKIPRLLEPEDVDVVDPDEKSIMTYVAQFLQYSKDAPGTGEEAQGKVK
DAMGWLTLQKEKLQKLLKDSENDTYFKKYNSLLSFMESFNEEKKSFLDVLSIKRDLDELD
KDHLQLREAWDGLDHQINAWKIKLNYALPPPLHQTEAWLQEVEELMDEDLSASQDHSQAV
TLIQEKMTLFKSLMDRFEHHSNILLTFENKDENHLPLVPPNKLEEMKRRINNILEKKFIL
LLEFHYYKCLVLGLVDEVKSKLDIWNIKYGSRESVELLLEDWHKFIEEKEFLARLDTSFQ
KCGEIYKNLAGECQNINKQYMMVKSDVCMYRKNIYNVKSTLQKVLACWATYVENLRLLRA
CFEETKKEEIKEVPFETLAQWNLEHATLNEAGNFLVEVSNDVVGSSISKELRRLNKRWRK
LVSKTQLEMNLPLMIKKQDQPTFDNSGNILSKEEKATVEFSTDMSVELPENYNQNIKAGE
KHEKENEEFTGQLKVAKDVEKLIGQVEIWEAEAKSVLDQDDVDTSMEESLKHLIAKGSMF
DELMARSEDMLQMDIQNISSQESFQHVLTTGLQAKIQEAKEKVQINVVKLIAALKNLTDV
SPDLDIRLKMEESQKELESYMMRAQQLLGQRESPGELISKHKEALIISNTKSLAKYLKAV
EELKNNVTEDIKMSLEEKSRDVCAKWESLHHELSLYVQQLKIDIEKGKLSDNILKLEKQI
NKEKKLIRRGRTKGLIKEHEACFSEEGCLYQLNHHMEVLRELCEELPSQKSQQEVKRLLK
DYEQKIERLLKCASEIHMTLQPTAGGTSKNEGTITTSENRGGDPHSEAPFAKSDNQPSTE
KAMEPTMKFSLASVLRPLQEESIMEKDYSASINSLLERYDTYRDILEHHLQNNKFRITSD
FSSEEDRSSSCLQAKLTDLQVIKNETDARWKEFEIISLKLENHVNDIKKPFVIKERDTLK
ERERELQMTLNTRMESLETALRLVLPVEKASLLLCGSDLPLHKMAIQGFHLIDADRIYQH
LRNIQDSIAKQIEICNRLEEPGNFVLKELHPFDLHAMQNIILKYKTQFEGMNHRVQRSED
TLKALEDFLASLRTAKLSAEPVTDLSASDTQVAQENTLTVKNKEGEIHLMKDKAKHLDKC
LKMLDMSFKDAERGDDTSCENLLDAFSIKLSETHGYGVQEEFTEENKLLEACIFKNNELL
KNIQDVQSQISKIGLKDPTVPAVKHRKKSLIRLDKVLDEYEEEKRHLQEMANSLPHFKDG
REKTVNQQCQNTVVLWENTKALVTECLEQCGRVLELLKQYQNFKSILTTLIQKEESVISL
QASYMGKENLKKRIAEIEIVKEEFNEHLEVVDKINQVCKNLQFYLNKMKTFEEPPFEKEA
NIIVDRWLDINEKTEDYYENLGRALALWDKLFNLKNVIDEWTEKALQKMELHQLTEEDRE
RLKEELQVHEQKTSEFSRRVAEIQFLLQSSEIPLELQVMESSILNKMEHVQKCLTGESNC
HALSGSTAELREDLDQAKTQIGMTESLLKALSPSDSLEIFTKLEEIQQQILQQKHSMILL
ENQIGCLTPELSELKKQYESVSDLFNTKKSVLQDHFSKLLNDQCKNFNDWFSNIKVNLKE
CFESSETKKSVEQKLQKLSDFLTLEGRNSKIKQVDSVLKHVKKHLPKAHVKELISWLVGQ
EFELEKMESICQARAKELEDSLQQLLRLQDDHRNLRKWLTNQEEKWKGMEEPGEKTELFC
QALARKREQFESVAQLNNSLKEYGFTEEEEIIMEATCLMDRYQTLLRQLSEIEEEDKLLP
TEDQSFNDLAHDVIHWIKEIKESLMVLNSSEGKMPLEERIQKIKEIILLKPEGDARIETI
MKQAESSEAPLVQKTLTDISNQWDNTLHLASTYLSHQEKLLLEGEKYLQSKEDLRLMLIE
LKKKQEAGFALQHGLQEKKAQLKIYKKFLKKAQDLTSLLKELKSQGNYLLECTKNPSFSE
EPWLEIKHLHESLLQQLQDSVQNLDGHVREHDSYQVCVTDLNTTLDNFSKEFVSFSDKPV
DQIAVEEKLQKLQELENRLSLQDGTLKKILALAKSVKQNTSSVGQKIIKDDIKSLQCKQK
DLENRLASAKQEMECCLNSILKSKRSTEKKGKFTLPGREKQATSDVQESTQESAAVEKLE
EDWEINKDSAVEMAMSKQLSLNAQESMKNTEDERKVNELQNQPLELDTMLRNEQLEEIEK
LYTQLEAKKAAIKPLEQTECLNKTETGALVLHNIGYSAQHLDNLLQALITLKKNKESQYC
VLRDFQEYLAAVESSMKALLTDKESLKVGPLDSVTYLDKIKKFIASIEKEKDSLGNLKIK
WENLSNHVTDMDKKLLESQIKQLEHGWEQVEQQIQKKYSQQVVEYDEFTTLMNKVQDTEI
SLQQQQQHLQLRLKSPEERAGNQSMIALTTDLQATKHGFSVLKGQAELQMKRIWGEKEKK
NLEDGINNLKKQWETLEPLHLEAENQIKKCDIRNKMKETILWAKNLLGELNPSIPLLPDD
ILSQIRKCKVTHDGILARQQSVESLAEEVKDKVPSLTTYEGSDLNNTLEDLRNQYQMLVL
KSTQRSQQLEFKLEERSNFFAIIRKFQLMVQESETLIIPRVETAATEAELKHHHVTLEAS
QKELQEIDSGISTHLQELTNIYEELNVFERLFLEDQLKNLKIRTNRIQRFIQNTCNEVEH
KIKFCRQFHEKTSALQEEADSIQRNELLLNQEVNKGVKEEIYNLKDRLTAIKCCILQVLK
LKKVFDYIGLNWDFSQLDQLQTQVFEKEKELEEKIKQLDTFEEEHGKYQALLSKMRAIDL
QIKKMTEVVLKAPDSSPESRRLNAQILSQRIEKAKCLCDEIIKKLNENKTFDDSFKEKEI
LQIKLNAEENDKLYKVLQNMVLELSPKELDEKNCQDKLETSLHVLNQIKSQLQQPLLINL
EIKHIQNEKDNCEAFQEQVWAEMCSIKAVTAIEKQREENSSEASDVETKLREFEDLQMQL
NTSIDLRTNVLNDAYENLTRYKEAVTRAVESITSLEAIIIPYRVDVGNPEESLEMPLRKQ
EELESTVAHIQDLTEKLGMISSPEAKLQLQYTLQELVSKNSAMKEAFKAQETEAERYLEN
YKCYRKMEEDIYTNLSKMETVLGQSMSSLPLSYREALERLEQSKALVSNLISTKEELMKL
RQILRLLRLRCTENDGICLLKIVSALWEKWLSLLEAAKEWEMWCEELKQEWKFVSEEIER
EAIILDNLQEELPEISKTKEAATTEELSELLDCLCQYGENVEKQQLLLTLLLQRIRSIQN
VPESSGAVETVPAFQEITSMKERCNKLLQKVQKNKELVQTEIQERHSFTKEIIALKNFFQ
QTTTSFQNMAFQDHPEKSEQFEELQSILKKGKLTFENIMEKLRIKYSEMYTIVPAEIESQ
VEECRKALEDIDEKISNEVLKSSPSYAMRRKIEEINNGLHNVEKMLQQKSKNIEKAQEIQ
KKMWDELDLWHSKLNELDSEVQDIVEQDPGQAQEWMDNLMIPFQQYQQVSQRAECRTSQL
NKATVKMEEYSDLLKSTEAWIENTSHLLANPADYDSLRTLSHHASTVQMALEDSEQKHNL
LHSIFMDLEDLSIIFETDELTQSIQELSNQVTALQQKIMESLPQIQRMADDVVAIESEVK
SMEKRVSKIKTILLSKEIFDFSPEEHLKHGEVILENIRPMKKTIAEIVSYQVELRLPQTG
MKPLPVFQRTNQLLQDIKLLENVTQEQNELLKVVIKQTNEWDEEIENLKQILNNYSAQFS
LEHMSPDQADKLPQLQGEIERMEKQILSLNQRKEDLLVDLKATVLNLHQHLKQEQEGVER
DRLPAVTSEEGGVAERDASERKLNRRGSMSYLAAVEEEVEESSVKSDNGDEKAEPSPQSW
SSLWKHDKDMEEDRASSSSGTIVQEAYGKISTSDNSMAQILTPDSLNTEQGPECSLRPNQ
TEEGTTPPIEADTLDSSDAQGGLEPRVEKTRPEPTEVLHACKTQVAELELWLQQANVAVE
PETLNADMQQVLEQQLVGCQAMLTEIEHKVAFLLETCKDQGLGDNGATQHEAEALSLKLK
TVKCNLEKVQMMLQEKHSEDQHPTILKKSSEPEHQEALQPVNLSELESIVTERPQFSRQK
DFQQQQVLELKPMEQKDFIKFIEFNAKKMWPQYCQHDNDTTQESSASNQASSPENDVPDS
ILSPQGQNGDKWQYLHHELSSKIKLPLPQLVEPQVSTNMGILPSVTMYNFRYPTTEELKT
YTTQLEDLRQEASNLQTQENMTEEAYINLDKKLFELFLTLSQCLSSVEEMLEMPRLYRED
GSGQQVHYETLALELKKLYLALSDKKGDLLKAMTWPGENTNLLLECFDNLQVCLEHTQAA
AVCRSKSLKAGLDYNRSYQNEIKRLYHQLIKSKTSLQQSLNEISGQSVAEQLQKADAYTV
ELENAESRVAKLRDEGERLHLPYALLQEVYKLEDVLDSMWGMLRARYTELSSPFVTESQQ
DALLQGMVELVKIGKEKLAHGHLKQTKSKVALQAQIENHKVFFQKLVADMLLIQAYSAKI
LPSLLQNRETFWAEQVTEVKILEEKSRQCGMKLQSLLQKWEEFDENYASLEKDLEILIST
LPSVSLVEETEERLVERISFYQQIKRNIGGKHARLYQTLNEGKQLVASVSCPELEGQIAK
LEEQWLSLNKKIDHELHRLQALLKHLLSYNRDSDQLTKWLESSQHTLNYWKEQSLNVSQD
LDTIRSNINNFFEFSKEVDEKSSLKTAVISIGNQLLHLKETDTATLRASLAQFEQKWTML
ITQLPDIQEKLHQLQMEKLPSRKAITEMISWMNNVEHQTSDEDSVHSPSSASQVKHLLQK
HKEFRMEMDYKQWIVDFVNQSLLQLSTCDVESKRYERTEFAEHLGEMNRQWHRVHGMLNR
KIQHLEQLLESITESENKIQILNNWLEAQEERLKTLQKPESVISVQKLLLDCQDIENQLA
IKSKALDELKQSYLTLESGAVPLLEDTASRIDELFQKRSSVLTQVNQLKTSMQSVLQEWK
IYDQLYDEVNMMTIRFWYCMEHSKPVVLSLETLRCQVENLQSLQDEAESSEGSWEKLQEV
IGKLKGLCPSVAEIIEEKCQNTHKRWTQVNQAIADQLQKAQSLLQLWKAYSNAHGEAAAR
LKQQEAKFQQLANISMSGNNLAEILPPALQDIKELQHDVQKTKEAFLQNSSVLDRLPQPA
ESSTHMLLPGPLHSLQRAAYLEKMLLVKANEFEFVLSQFKDFGVRLESLKGLIMHEEENL
DRLHQQEKENPDSFLNHVLALTAQSPDIEHLNEVSLKLPLSDVAVKTLQNMNRQWIRATA
TALERCSELQGIGLNEKFLYCCEKWIQLLEKIEEALKVDVANSLPELLEQQKTYKMLEAE
VSINQTIADSYVTQSLQLLDTTEIENRPEFITEFSKLTDRWQNAVQGVRQRKGDVDGLVR
QWQDFTTSVENLFRFLTDTSHLLSAVKGQERFSLYQTRSLIHELKNKEIHFQRRRTTCAL
TLEAGEKLLLTTDLKTKESVGRRISQLQDSWKDMEPQLAEMIKQFQSTVETWDQCEKKIK
ELKSRLQVLKAQSEDPLPELHEDLHNEKELIKELEQSLASWTQNLKELQTMKADLTRHVL
VEDVMVLKEQIEHLHRQWEDLCLRVAIRKQEIEDRLNTWVVFNEKNKELCAWLVQMENKV
LQTADISIEEMIEKLQKDCMEEINLFSENKLQLKQMGDQLIKASNKSRAAEIDDKLNKIN
DRWQHLFDVIGSRVKKLKETFAFIQQLDKNMSNLRTWLARIESELSKPVVYDVCDDQEIQ
KRLAEQQDLQRDIEQHSAGVESVFNICDVLLHDSDACANETECDSIQQTTRSLDRRWRNI
CAMSMERRMKIEETWRLWQKFLDDYSRFEDWLKSAERTAACPNSSEVLYTSAKEELKRFE
AFQRQIHERLTQLELINKQYRRLARENRTDTASRLKQMVHEGNQRWDNLQRRVTAVLRRL
RHFTNQREEFEGTRESILVWLTEMDLQLTNVEHFSESDADDKMRQLNGFQQEITLNTNKI
DQLIVFGEQLIQKSEPLDAVLIEDELEELHRYCQEVFGRVSRFHRRLTSCTPGLEDEKEA
SENETDMEDPREIQTDSWRKRGESEEPSSPQSLCHLVAPGHERSGCETPVSVDSIPLEWD
HTGDVGGSSSHEEDEEGPYYSALSGKSISDGHSWHVPDSPSCPEHHYKQMEGDRNVPPVP
PASSTPYKPPYGKLLLPPGTDGGKEGPRVLNGNPQQEDGGLAGITEQQSGAFDRWEMIQA
QELHNKLKIKQNLQQLNSDISAITTWLKKTEAELEMLKMAKPPSDIQEIELRVKRLQEIL
KAFDTYKALVVSVNVSSKEFLQTESPESTELQSRLRQLSLLWEAAQGAVDSWRGGLRQSL
MQCQDFHQLSQNLLLWLASAKNRRQKAHVTDPKADPRALLECRRELMQLEKELVERQPQV
DMLQEISNSLLIKGHGEDCIEAEEKVHVIEKKLKQLREQVSQDLMALQGTQNPASPLPSF
DEVDSGDQPPATSVPAPRAKQFRAVRTTEGEEETESRVPGSTRPQRSFLSRVVRAALPLQ
LLLLLLLLLACLLPSSEEDYSCTQANNFARSFYPMLRYTNGPPPT

Sequence length

6885

Interactions

View interactions

	KEGG
	Cytoskeleton in muscle cells

3580

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebral palsy	Pathogenic	rs2153715439	RCV001796571
Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Pathogenic; Likely pathogenic	rs1323140900, rs2549255659, rs2550709678, rs2549416400	RCV001647207 RCV002291115 RCV003236687 RCV003887832

Show/Hide Unknown Diseases (28)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign; Uncertain significance	rs7145919, rs555230855, rs2149766, rs781250830, rs143410137, rs190582637	RCV005915798 RCV005918769 RCV005920790 RCV005924060 RCV005889320 RCV005888594
Cervical cancer	Benign; Likely benign	rs17101626, rs555230855, rs80030705, rs7140414, rs143410137, rs1294405956, rs544882576	RCV005918491 RCV005918771 RCV005920462 RCV005889317 RCV005889322 RCV005921083 RCV005893276
Clear cell carcinoma of kidney	Benign; Likely benign	rs189611387	RCV005889720
Colon adenocarcinoma	Uncertain significance; Benign	rs773368959, rs11847087	RCV005924167 RCV005889324
Colorectal cancer	Benign; Likely benign	rs189611387	RCV005889721
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs745483802	RCV004557976
Emery-Dreifuss muscular dystrophy	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs138769395, rs886050578, rs373828834, rs370255444, rs750900424, rs763134759, rs368230785, rs778039158, rs764264884	RCV000402578 RCV000347719 RCV000306265 RCV000372793 RCV000315273 RCV000382686 RCV000308067 RCV000322839 RCV000344997
Familial cancer of breast	Benign; Likely benign; Uncertain significance	rs555230855, rs189611387, rs886050578	RCV005918768 RCV005889717 RCV005869301
Gastric cancer	Benign; Likely benign; Uncertain significance	rs80030705, rs2149766, rs143410137, rs754768287, rs189611387, rs1198798280	RCV005920463 RCV005920791 RCV005889323 RCV005924096 RCV005889723 RCV005909014
Hepatocellular carcinoma	Benign	rs143410137, rs138689053	RCV005889321 RCV005895587
Long QT syndrome	Uncertain significance	rs548596262	RCV000157512
Lung cancer	Benign	rs555230855, rs80030705, rs369096632, rs189676726	RCV005918774 RCV005920464 RCV005913737 RCV005910906
Malignant tumor of esophagus	Benign; Uncertain significance; Likely benign	rs17101626, rs555230855, rs11847087, rs754768287, rs189611387, rs34440267, rs76634907, rs186567969	RCV005918490 RCV005918770 RCV005889325 RCV005924095 RCV005889718 RCV005869205 RCV005893274 RCV005893275
Malignant tumor of urinary bladder	Benign	rs143162390	RCV005921127
Melanoma	Uncertain significance	rs760448281	RCV005913588
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs189611387	RCV005889719
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	rs7145919, rs555230855, rs2149766, rs780254010, rs369096632	RCV005915799 RCV005918773 RCV005920792 RCV005926917 RCV005913736
Pancreatic adenocarcinoma	Likely benign	rs2153528215	RCV005912923
Primary dilated cardiomyopathy	Uncertain significance	rs730880220, rs869025529	RCV000157511 RCV000208530
Restrictive cardiomyopathy	Uncertain significance	rs548596262	RCV000157512
Sarcoma	Benign; Likely benign	rs555230855, rs189611387	RCV005918772 RCV005889722
See cases	Uncertain significance	rs574167855, rs901997575	RCV002252712 RCV002252803
Spastic ataxia	Conflicting classifications of pathogenicity	rs2153692395	RCV001647185
SYNE2-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs377521714, rs1009151850, rs140028745, rs146695165, rs17101637, rs10137972, rs145218296, rs34944385, rs78191145, rs57259697, rs11158524, rs35883188, rs34625768, rs7157465, rs11847087 View all (99 more)	RCV003928878 RCV003946243 RCV003908865 RCV003908800 RCV003975047 RCV003975048 RCV003915171 RCV003925158 RCV003915172 RCV003964991 RCV003964992 RCV003915173 RCV003964993 RCV003975049 RCV003975050 RCV003948803 RCV004746574 RCV003978882 RCV003978883 RCV003960910 RCV003933341 RCV003893093 RCV003924796 RCV003898773 RCV003937554 RCV003955019 RCV003917669 RCV003927689 RCV003955093 RCV003927698 RCV003937637 RCV003937639 RCV003917680 RCV003955103 RCV003404001 RCV003410166 RCV003947826 RCV003977726 RCV003947830 RCV003939941 RCV003967704 RCV003930050 RCV003417884 RCV003930059 RCV003909927 RCV003920046 RCV003967716 RCV003909933 RCV003947851 RCV003955446 RCV003920055 RCV003947856 RCV003977753 RCV003939976 RCV003947867 RCV003920069 RCV003920092 RCV003414077 RCV003391437 RCV003416866 RCV003410722 RCV003393104 RCV003410520 RCV003420699 RCV003393236 RCV003897018 RCV003919825 RCV003964521 RCV003977069 RCV003941487 RCV003930341 RCV003961910 RCV003976935 RCV003940217 RCV003920312 RCV003920314 RCV003910180 RCV003417990 RCV003950070 RCV004725164 RCV003930339 RCV003930340 RCV004745333 RCV003930342 RCV003950071 RCV003940218 RCV003940219 RCV003920311 RCV003920313 RCV004745332 RCV003925549 RCV003962547 RCV003905415 RCV003945282 RCV003965374 RCV003937950 RCV003905752 RCV003420222 RCV003938044 RCV003396409 RCV003411815 RCV003965743 RCV003920388 RCV003930383 RCV003920389 RCV003955684 RCV003948208 RCV003955680 RCV003930422 RCV003930425 RCV003938355 RCV003906211 RCV003405320 RCV003973186 RCV003405496
Thymoma	Benign; Likely benign	rs17101626, rs2149766, rs7140414, rs11847087	RCV005918492 RCV005920793 RCV005889318 RCV005889327
Uterine carcinosarcoma	Benign	rs1255892	RCV005925226
Uterine corpus endometrial carcinoma	Benign; Likely benign; Uncertain significance	rs17101626, rs2149766, rs7140414, rs371414349, rs763374440, rs771680833	RCV005918493 RCV005920794 RCV005889319 RCV005930663 RCV005926469 RCV005896880
Uveal melanoma	Benign	rs11847087	RCV005889326

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma	Associate	31784980
Atrial Fibrillation	Associate	25953654, 29545482, 29624624, 39355904
Autism Spectrum Disorder	Associate	34573277
Autistic Disorder	Associate	34573277
Brain Diseases	Associate	36930595
Breast Neoplasms	Inhibit	26175118
Carcinoma Hepatocellular	Associate	27502069
Carcinoma Non Small Cell Lung	Associate	21118496
Central Nervous System Vascular Malformations	Associate	36930595
Chronic Periodontitis	Associate	26705104
Colorectal Neoplasms	Associate	24080406
Developmental Disabilities	Associate	34573277
Heterotaxy Syndrome	Associate	29545482
Intellectual Disability	Associate	34573277
Liver Cirrhosis Biliary	Associate	26608979
Lung Neoplasms	Associate	23619141
Muscular Dystrophy Emery Dreifuss	Associate	22555292, 23671687
Neoplasms	Associate	23619141, 24080406, 29606096, 39201394
Pancreatic Neoplasms	Associate	36014414
Urinary Bladder Neoplasms	Associate	37247272

SYNE2 (spectrin repeat containing nuclear envelope protein 2)