NEB
Nebulin
Also known as: NEB177D, NEBU_HUMAN, NEM2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P20929
- Gene
- NEB
- Ensembl
- ENSG00000183091
- Chromosome
- 2
- Canonical length
- 8525 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Quaternary structure
- Homooligomer
OverviewNCBI Gene
This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]
Canonical amino-acid sequenceUniProt
8525 residues, UniProt reviewed canonical sequence.
>P20929|NEB
1 MADDEDYEEV VEYYTEEVVY EEVPGETITK IYETTTTRTS DYEQSETSKP ALAQPALAQP
61 ASAKPVERRK VIRKKVDPSK FMTPYIAHSQ KMQDLFSPNK YKEKFEKTKG QPYASTTDTP
121 ELRRIKKVQD QLSEVKYRMD GDVAKTICHV DEKAKDIEHA KKVSQQVSKV LYKQNWEDTK
181 DKYLLPPDAP ELVQAVKNTA MFSKKLYTED WEADKSLFYP YNDSPELRRV AQAQKALSDV
241 AYKKGLAEQQ AQFTPLADPP DIEFAKKVTN QVSKQKYKED YENKIKGKWS ETPCFEVANA
301 RMNADNISTR KYQEDFENMK DQIYFMQTET PEYKMNKKAG VAASKVKYKE DYEKNKGKAD
361 YNVLPASENP QLRQLKAAGD ALSDKLYKEN YEKTKAKSIN YCETPKFKLD TVLQNFSSDK
421 KYKDSYLKDI LGHYVGSFED PYHSHCMKVT AQNSDKNYKA EYEEDRGKGF FPQTITQEYE
481 AIKKLDQCKD HTYKVHPDKT KFTQVTDSPV LLQAQVNSKQ LSDLNYKAKH ESEKFKCHIP
541 PDTPAFIQHK VNAYNLSDNL YKQDWEKSKA KKFDIKVDAI PLLAAKANTK NTSDVMYKKD
601 YEKNKGKMIG VLSINDDPKM LHSLKVAKNQ SDRLYKENYE KTKAKSMNYC ETPKYQLDTQ
661 LKNFSEARYK DLYVKDVLGH YVGSMEDPYH THCMKVAAQN SDKSYKAEYE EDKGKCYFPQ
721 TITQEYEAIK KLDQCKDHTY KVHPDKTKFT AVTDSPVLLQ AQLNTKQLSD LNYKAKHEGE
781 KFKCHIPADA PQFIQHRVNA YNLSDNVYKQ DWEKSKAKKF DIKVDAIPLL AAKANTKNTS
841 DVMYKKDYEK SKGKMIGALS INDDPKMLHS LKTAKNQSDR EYRKDYEKSK TIYTAPLDML
901 QVTQAKKSQA IASDVDYKHI LHSYSYPPDS INVDLAKKAY ALQSDVEYKA DYNSWMKGCG
961 WVPFGSLEME KAKRASDILN EKKYRQHPDT LKFTSIEDAP ITVQSKINQA QRSDIAYKAK
1021 GEEIIHKYNL PPDLPQFIQA KVNAYNISEN MYKADLKDLS KKGYDLRTDA IPIRAAKAAR
1081 QAASDVQYKK DYEKAKGKMV GFQSLQDDPK LVHYMNVAKI QSDREYKKDY EKTKSKYNTP
1141 HDMFNVVAAK KAQDVVSNVN YKHSLHHYTY LPDAMDLELS KNMMQIQSDN VYKEDYNNWM
1201 KGIGWIPIGS LDVEKVKKAG DALNEKKYRQ HPDTLKFTSI VDSPVMVQAK QNTKQVSDIL
1261 YKAKGEDVKH KYTMSPDLPQ FLQAKCNAYN ISDVCYKRDW YDLIAKGNNV LGDAIPITAA
1321 KASRNIASDY KYKEAYEKSK GKHVGFRSLQ DDPKLVHYMN VAKLQSDREY KKNYENTKTS
1381 YHTPGDMVSI TAAKMAQDVA TNVNYKQPLH HYTYLPDAMS LEHTRNVNQI QSDNVYKDEY
1441 NSFLKGIGWI PIGSLEVEKV KKAGDALNER KYRQHPDTVK FTSVPDSMGM VLAQHNTKQL
1501 SDLNYKVEGE KLKHKYTIDP ELPQFIQAKV NALNMSDAHY KADWKKTIAK GYDLRPDAIP
1561 IVAAKSSRNI ASDCKYKEAY EKAKGKQVGF LSLQDDPKLV HYMNVAKIQS DREYKKGYEA
1621 SKTKYHTPLD MVSVTAAKKS QEVATNANYR QSYHHYTLLP DALNVEHSRN AMQIQSDNLY
1681 KSDFTNWMKG IGWVPIESLE VEKAKKAGEI LSEKKYRQHP EKLKFTYAMD TMEQALNKSN
1741 KLNMDKRLYT EKWNKDKTTI HVMPDTPDIL LSRVNQITMS DKLYKAGWEE EKKKGYDLRP
1801 DAIAIKAARA SRDIASDYKY KKAYEQAKGK HIGFRSLEDD PKLVHFMQVA KMQSDREYKK
1861 GYEKSKTSFH TPVDMLSVVA AKKSQEVATN ANYRNVIHTY NMLPDAMSFE LAKNMMQIQS
1921 DNQYKADYAD FMKGIGWLPL GSLEAEKNKK AMEIISEKKY RQHPDTLKYS TLMDSMNMVL
1981 AQNNAKIMNE HLYKQAWEAD KTKVHIMPDI PQIILAKANA INMSDKLYKL SLEESKKKGY
2041 DLRPDAIPIK AAKASRDIAS DYKYKYNYEK GKGKMVGFRS LEDDPKLVHS MQVAKMQSDR
2101 EYKKNYENTK TSYHTPADML SVTAAKDAQA NITNTNYKHL IHKYILLPDA MNIELTRNMN
2161 RIQSDNEYKQ DYNEWYKGLG WSPAGSLEVE KAKKATEYAS DQKYRQHPSN FQFKKLTDSM
2221 DMVLAKQNAH TMNKHLYTID WNKDKTKIHV MPDTPDILQA KQNQTLYSQK LYKLGWEEAL
2281 KKGYDLPVDA ISVQLAKASR DIASDYKYKQ GYRKQLGHHV GFRSLQDDPK LVLSMNVAKM
2341 QSEREYKKDF EKWKTKFSSP VDMLGVVLAK KCQELVSDVD YKNYLHQWTC LPDQNDVVQA
2401 KKVYELQSEN LYKSDLEWLR GIGWSPLGSL EAEKNKRASE IISEKKYRQP PDRNKFTSIP
2461 DAMDIVLAKT NAKNRSDRLY REAWDKDKTQ IHIMPDTPDI VLAKANLINT SDKLYRMGYE
2521 ELKRKGYDLP VDAIPIKAAK ASREIASEYK YKEGFRKQLG HHIGARNIED DPKMMWSMHV
2581 AKIQSDREYK KDFEKWKTKF SSPVDMLGVV LAKKCQTLVS DVDYKNYLHQ WTCLPDQSDV
2641 IHARQAYDLQ SDNLYKSDLQ WLKGIGWMTS GSLEDEKNKR ATQILSDHVY RQHPDQFKFS
2701 SLMDSIPMVL AKNNAITMNH RLYTEAWDKD KTTVHIMPDT PEVLLAKQNK VNYSEKLYKL
2761 GLEEAKRKGY DMRVDAIPIK AAKASRDIAS EFKYKEGYRK QLGHHIGARA IRDDPKMMWS
2821 MHVAKIQSDR EYKKDFEKWK TKFSSPVDML GVVLAKKCQT LVSDVDYKNY LHQWTCLPDQ
2881 SDVIHARQAY DLQSDNMYKS DLQWMRGIGW VSIGSLDVEK CKRATEILSD KIYRQPPDRF
2941 KFTSVTDSLE QVLAKNNAIT MNKRLYTEAW DKDKTQIHIM PDTPEIMLAR MNKINYSESL
3001 YKLANEEAKK KGYDLRSDAI PIVAAKASRD IISDYKYKDG YCKQLGHHIG ARNIEDDPKM
3061 MWSMHVAKIQ SDREYKKDFE KWKTKFSSPV DMLGVVLAKK CQTLVSDVDY KNYLHEWTCL
3121 PDQSDVIHAR QAYDLQSDNI YKSDLQWLRG IGWVPIGSMD VVKCKRATEI LSDNIYRQPP
3181 DKLKFTSVTD SLEQVLAKNN ALNMNKRLYT EAWDKDKTQI HIMPDTPEIM LARQNKINYS
3241 ETLYKLANEE AKKKGYDLRS DAIPIVAAKA SRDVISDYKY KDGYRKQLGH HIGARNIEDD
3301 PKMMWSMHVA KIQSDREYKK DFEKWKTKFS SPVDMLGVVL AKKCQTLVSD VDYKNYLHEW
3361 TCLPDQNDVI HARQAYDLQS DNIYKSDLQW LRGIGWVPIG SMDVVKCKRA AEILSDNIYR
3421 QPPDKLKFTS VTDSLEQVLA KNNALNMNKR LYTEAWDKDK TQVHIMPDTP EIMLARQNKI
3481 NYSESLYRQA MEEAKKEGYD LRSDAIPIVA AKASRDIASD YKYKEAYRKQ LGHHIGARAV
3541 HDDPKIMWSL HIAKVQSDRE YKKDFEKYKT RYSSPVDMLG IVLAKKCQTL VSDVDYKHPL
3601 HEWICLPDQN DIIHARKAYD LQSDNLYKSD LEWMKGIGWV PIDSLEVVRA KRAGELLSDT
3661 IYRQRPETLK FTSITDTPEQ VLAKNNALNM NKRLYTEAWD NDKKTIHVMP DTPEIMLAKL
3721 NRINYSDKLY KLALEESKKE GYDLRLDAIP IQAAKASRDI ASDYKYKEGY RKQLGHHIGA
3781 RNIKDDPKMM WSIHVAKIQS DREYKKEFEK WKTKFSSPVD MLGVVLAKKC QILVSDIDYK
3841 HPLHEWTCLP DQNDVIQARK AYDLQSDAIY KSDLEWLRGI GWVPIGSVEV EKVKRAGEIL
3901 SDRKYRQPAD QLKFTCITDT PEIVLAKNNA LTMSKHLYTE AWDADKTSIH VMPDTPDILL
3961 AKSNSANISQ KLYTKGWDES KMKDYDLRAD AISIKSAKAS RDIASDYKYK EAYEKQKGHH
4021 IGAQSIEDDP KIMCAIHAGK IQSEREYKKE FQKWKTKFSS PVDMLSILLA KKCQTLVTDI
4081 DYRNYLHEWT CMPDQNDIIQ AKKAYDLQSD SVYKADLEWL RGIGWMPEGS VEMNRVKVAQ
4141 DLVNERLYRT RPEALSFTSI VDTPEVVLAK ANSLQISEKL YQEAWNKDKS NITIPSDTPE
4201 MLQAHINALQ ISNKLYQKDW NDAKQKGYDI RADAIEIKHA KASREIASEY KYKEGYRKQL
4261 GHHMGFRTLQ DDPKSVWAIH AAKIQSDREY KKAYEKSKGI HNTPLDMMSI VQAKKCQVLV
4321 SDIDYRNYLH QWTCLPDQND VIQAKKAYDL QSDNLYKSDL EWLKGIGWLP EGSVEVMRVK
4381 NAQNLLNERL YRIKPEALKF TSIVDTPEVI QAKINAVQIS EPLYRDAWEK EKANVNVPAD
4441 TPLMLQSKIN ALQISNKRYQ QAWEDVKMTG YDLRADAIGI QHAKASRDIA SDYLYKTAYE
4501 KQKGHYIGCR SAKEDPKLVW AANVLKMQND RLYKKAYNDH KAKISIPVDM VSISAAKEGQ
4561 ALASDVDYRH YLHHWSCFPD QNDVIQARKA YDLQSDSVYK ADLEWLRGIG WMPEGSVEMN
4621 RVKVAQDLVN ERLYRTRPEA LSFTSIVDTP EVVLAKANSL QISEKLYQEA WNKDKSNITI
4681 PSDTPEMLQA HINALQISNK LYQKDWNDTK QKGYDIRADA IEIKHAKASR EIASEYKYKE
4741 GYRKQLGHHM GFRTLQDDPK SVWAIHAAKI QSDREYKKAY EKSKGIHNTP LDMMSIVQAK
4801 KCQVLVSDID YRNYLHQWTC LPDQNDVIQA KKAYDLQSDN LYKSDLEWLK GIGWLPEGSV
4861 EVMRVKNAQN LLNERLYRIK PEALKFTSIV DTPEVIQAKI NAVQISEPLY RNAWEKEKAN
4921 VNVPADTPLM LQSKINALQI SNKRYQQAWE DVKMTGYDLR ADAIGIQHAK ASRDIASDYL
4981 YKTAYEKQKG HYIGCRSAKE DPKLVWAANV LKMQNDRLYK KAYNDHKAKI SIPVDMVSIS
5041 AAKEGQALAS DVDYRHYLHH WSCFPDQNDV IQARKAYDLQ SDSVYKADLE WLRGIGWMPE
5101 GSVEMNRVKV AQDLVNERLY RTRPEALSFT SIVDTPEVVL AKANSLQISE KLYQEAWNKD
5161 KSNITIPSDT PEMLQAHINA LQISNKLYQK DWNDTKQKGY DIRADAIEIK HAKASREIAS
5221 EYKYKEGYRK QLGHHMGFRT LQDDPKSVWA IHAAKIQSDR EYKKAYEKSK GIHNTPLDMM
5281 SIVQAKKCQV LVSDIDYRNY LHQWTCLPDQ NDVIQAKKAY DLQSDNLYKS DLEWLKGIGW
5341 LPEGSVEVMR VKNAQNLLNE RLYRIKPEAL KFTSIVDTPE VIQAKINAVQ ISEPLYRDAW
5401 EKEKANVNVP ADTPLMLQSK INALQISNKR YQQAWEDVKM TGYDLRADAI GIQHAKASRD
5461 IASDYLYKTA YEKQKGHYIG CRSAKEDPKL VWAANVLKMQ NDRLYKKAYN DHKAKISIPV
5521 DMVSISAAKE GQALASDVDY RHYLHRWSCF PDQNDVIQAR KAYDLQSDAL YKADLEWLRG
5581 IGWMPQGSPE VLRVKNAQNI FCDSVYRTPV VNLKYTSIVD TPEVVLAKSN AENISIPKYR
5641 EVWDKDKTSI HIMPDTPEIN LARANALNVS NKLYREGWDE MKAGCDVRLD AIPIQAAKAS
5701 REIASDYKYK LDHEKQKGHY VGTLTARDDN KIRWALIADK LQNEREYRLD WAKWKAKIQS
5761 PVDMLSILHS KNSQALVSDM DYRNYLHQWT CMPDQNDVIQ AKKAYELQSD NVYKADLEWL
5821 RGIGWMPNDS VSVNHAKHAA DIFSEKKYRT KIETLNFTPV DDRVDYVTAK QSGEILDDIK
5881 YRKDWNATKS KYTLTETPLL HTAQEAARIL DQYLYKEGWE RQKATGYILP PDAVPFVHAH
5941 HCNDVQSELK YKAEHVKQKG HYVGVPTMRD DPKLVWFEHA GQIQNERLYK EDYHKTKAKI
6001 NIPADMVSVL AAKQGQTLVS DIDYRNYLHQ WMCHPDQNDV IQARKAYDLQ SDNVYRADLE
6061 WLRGIGWIPL DSVDHVRVTK NQEMMSQIKY KKNALENYPN FRSVVDPPEI VLAKINSVNQ
6121 SDVKYKETFN KAKGKYTFSP DTPHISHSKD MGKLYSTILY KGAWEGTKAY GYTLDERYIP
6181 IVGAKHADLV NSELKYKETY EKQKGHYLAG KVIGEFPGVV HCLDFQKMRS ALNYRKHYED
6241 TKANVHIPND MMNHVLAKRC QYILSDLEYR HYFHQWTSLL EEPNVIRVRN AQEILSDNVY
6301 KDDLNWLKGI GCYVWDTPQI LHAKKSYDLQ SQLQYTAAGK ENLQNYNLVT DTPLYVTAVQ
6361 SGINASEVKY KENYHQIKDK YTTVLETVDY DRTRNLKNLY SSNLYKEAWD RVKATSYILP
6421 SSTLSLTHAK NQKHLASHIK YREEYEKFKA LYTLPRSVDD DPNTARCLRV GKLNIDRLYR
6481 SVYEKNKMKI HIVPDMVEMV TAKDSQKKVS EIDYRLRLHE WICHPDLQVN DHVRKVTDQI
6541 SDIVYKDDLN WLKGIGCYVW DTPEILHAKH AYDLRDDIKY KAHMLKTRND YKLVTDTPVY
6601 VQAVKSGKQL SDAVYHYDYV HSVRGKVAPT TKTVDLDRAL HAYKLQSSNL YKTSLRTLPT
6661 GYRLPGDTPH FKHIKDTRYM SSYFKYKEAY EHTKAYGYTL GPKDVPFVHV RRVNNVTSER
6721 LYRELYHKLK DKIHTTPDTP EIRQVKKTQE AVSELIYKSD FFKMQGHMIS LPYTPQVIHC
6781 RYVGDITSDI KYKEDLQVLK GFGCFLYDTP DMVRSRHLRK LWSNYLYTDK ARKMRDKYKV
6841 VLDTPEYRKV QELKTHLSEL VYRAAGKKQK SIFTSVPDTP DLLRAKRGQK LQSQYLYVEL
6901 ATKERPHHHA GNQTTALKHA KDVKDMVSEK KYKIQYEKMK DKYTPVPDTP ILIRAKRAYW
6961 NASDLRYKET FQKTKGKYHT VKDALDIVYH RKVTDDISKI KYKENYMSQL GIWRSIPDRP
7021 EHFHHRAVTD TVSDVKYKED LTWLKGIGCY AYDTPDFTLA EKNKTLYSKY KYKEVFERTK
7081 SDFKYVADSP INRHFKYATQ LMNERKYKSS AKMFLQHGCN EILRPDMLTA LYNSHMWSQI
7141 KYRKNYEKSK DKFTSIVDTP EHLRTTKVNK QISDILYKLE YNKAKPRGYT TIHDTPMLLH
7201 VRKVKDEVSD LKYKEVYQRN KSNCTIEPDA VHIKAAKDAY KVNTNLDYKK QYEANKAHWK
7261 WTPDRPDFLQ AAKSSLQQSD FEYKLDREFL KGCKLSVTDD KNTVLALRNT LIESDLKYKE
7321 KHVKERGTCH AVPDTPQILL AKTVSNLVSE NKYKDHVKKH LAQGSYTTLP ETRDTVHVKE
7381 VTKHVSDTNY KKKFVKEKGK SNYSIMLEPP EVKHAMEVAK KQSDVAYRKD AKENLHYTTV
7441 ADRPDIKKAT QAAKQASEVE YRAKHRKEGS HGLSMLGRPD IEMAKKAAKL SSQVKYRENF
7501 DKEKGKTPKY NPKDSQLYKV MKDANNLASE VKYKADLKKL HKPVTDMKES LIMNHVLNTS
7561 QLASSYQYKK KYEKSKGHYH TIPDNLEQLH LKEATELQSI VKYKEKYEKE RGKPMLDFET
7621 PTYITAKESQ QMQSGKEYRK DYEESIKGRN LTGLEVTPAL LHVKYATKIA SEKEYRKDLE
7681 ESIRGKGLTE MEDTPDMLRA KNATQILNEK EYKRDLELEV KGRGLNAMAN ETPDFMRARN
7741 ATDIASQIKY KQSAEMEKAN FTSVVDTPEI IHAQQVKNLS SQKKYKEDAE KSMSYYETVL
7801 DTPEIQRVRE NQKNFSLLQY QCDLKNSKGK ITVVQDTPEI LRVKENQKNF SSVLYKEDVS
7861 PGTAIGKTPE MMRVKQTQDH ISSVKYKEAI GQGTPIPDLP EVKRVKETQK HISSVMYKEN
7921 LGTGIPTTVT PEIERVKRNQ ENFSSVLYKE NLGKGIPTPI TPEMERVKRN QENFSSILYK
7981 ENLSKGTPLP VTPEMERVKL NQENFSSVLY KENVGKGIPI PITPEMERVK HNQENFSSVL
8041 YKENLGTGIP IPITPEMQRV KHNQENLSSV LYKENMGKGT PLPVTPEMER VKHNQENISS
8101 VLYKENMGKG TPLPVTPEME RVKHNQENIS SVLYKENMGK GTPLAVTPEM ERVKHNQENI
8161 SSVLYKENVG KATATPVTPE MQRVKRNQEN ISSVLYKENL GKATPTPFTP EMERVKRNQE
8221 NFSSVLYKEN MRKATPTPVT PEMERAKRNQ ENISSVLYSD SFRKQIQGKA AYVLDTPEMR
8281 RVRETQRHIS TVKYHEDFEK HKGCFTPVVT DPITERVKKN MQDFSDINYR GIQRKVVEME
8341 QKRNDQDQET ITGLRVWRTN PGSVFDYDPA EDNIQSRSLH MINVQAQRRS REQSRSASAL
8401 SISGGEEKSE HSEAPDHHLS TYSDGGVFAV STAYKHAKTT ELPQQRSSSV ATQQTTVSSI
8461 PSHPSTAGKI FRAMYDYMAA DADEVSFKDG DAIINVQAID EGWMYGTVQR TGRTGMLPAN
8521 YVEAILocalizationUniProt · AlphaFold · HPA
Whether an antibody against NEB 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
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0
- Highest tissue expression
- 7,182 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 7,182 nTPM
- tongue: 2,199 nTPM
- salivary gland: 66 nTPM
- heart muscle: 28 nTPM
- prostate: 20 nTPM
- esophagus: 15 nTPM
Single-cell type
- myonuclei: 22,433 nCPM
- thymic myoid cells: 7,044 nCPM
- myosatellite cells: 295 nCPM
- adipocytes: 125 nCPM
- fibro-adipogenic progenitors: 82 nCPM
- other brain neurons: 73 nCPM
Immune cell
- basophil: 0.1 nTPM
- MAIT T-cell: 0.1 nTPM
- memory B-cell: 0.1 nTPM
- naive B-cell: 0.1 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
Brain region
- hypothalamus: 10 nTPM
- basal ganglia: 8.8 nTPM
- cerebellum: 5.8 nTPM
- midbrain: 4.8 nTPM
- thalamus: 4.8 nTPM
- medulla oblongata: 4.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NEB.
Disease | AllUniProt
Conditions NEB is implicated in, by any mechanism.
- Nemaline myopathy 2 (NEM2) MIM:256030
- Arthrogryposis multiplex congenita 6 (AMC6) MIM:619334
Disease | GeneticClinVar
1,884 pathogenic / likely-pathogenic of 12,522 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Nemaline myopathy 2
- Arthrogryposis multiplex congenita 6
- Nemaline myopathy
- NEB-related disorder
- Inborn genetic diseases
Disease | ImmuneIEDB
Conditions an epitope on NEB was assayed in.
- skin melanoma T cell
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)
- 0.42
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.04
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cardiac muscle thin filament assembly
- muscle organ development
- regulation of actin filament length
- somatic muscle development
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NEB 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 NEB as an antibody target. Whether an autoantibody or antibody against NEB could matter depends on whether native NEB is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NEB is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NEB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...