Seroatlas · Human Serome Atlas

MYCBP2

E3 ubiquitin-protein ligase MYCBP2

Also known as: FLJ10106, KIAA0916, MYCB2_HUMAN, PAM, PHR1

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

Protein identityUniProt · HPA

UniProt accession: O75592
Gene: MYCBP2
Ensembl: ENSG00000005810
Chromosome: 13
Canonical length: 4678 aa
Protein class: Enzymes, Metabolic proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Vesicles,Cytosol

OverviewNCBI Gene

This gene encodes an E3 ubiquitin-protein ligase and member of the PHR (Phr1/MYCBP2, highwire and RPM-1) family of proteins. The encoded protein plays a role in axon guidance and synapse formation in the developing nervous system. In mammalian cells, this protein regulates the cAMP and mTOR signaling pathways, and may additionally regulate autophagy. Reduced expression of this gene has been observed in acute lymphoblastic leukemia patients and a mutation in this gene has been identified in patients with a rare inherited vision defect. [provided by RefSeq, Mar 2017]

Canonical amino-acid sequenceUniProt

4678 residues, UniProt reviewed canonical sequence.

>O75592|MYCBP2
     1  MMMCAATASP AAASSGLGGD GFYPAATFSS SPAPGALFMP VPDGSVAAAG LGLGLPAADS
    61  RGHYQLLLSG RALADRYRRI YTAALNDRDQ GGGSAGHPAS RNKKILNKKK LKRKQKSKSK
   121  VKTRSKSENL ENTVIIPDIK LHSNPSAFNI YCNVRHCVLE WQKKEISLAA ASKNSVQSGE
   181  SDSDEEEESK EPPIKLPKII EVGLCEVFEL IKETRFSHPS LCLRSLQALL NVLQGQQPEG
   241  LQSEPPEVLE SLFQLLLEIT VRSTGMNDST GQSLTALSCA CLFSLVASWG ETGRTLQAIS
   301  AILTNNGSHA CQTIQVPTIL NSLQRSVQAV LVGKIQIQDW FSNGIKKAAL MHKWPLKEIS
   361  VDEDDQCLLQ NDGFFLYLLC KDGLYKIGSG YSGTVRGHIY NSTSRIRNRK EKKSWLGYAQ
   421  GYLLYRDVNN HSMTAIRISP ETLEQDGTVM LPDCHTEGQN ILFTDGEYIN QIAASRDDGF
   481  VVRIFATSTE PVLQQELQLK LARKCLHACG ISLFDLEKDL HIISTGFDEE SAILGAGREF
   541  ALMKTANGKI YYTGKYQSLG IKQGGPSAGK WVELPITKSP KIVHFSVGHD GSHALLVAED
   601  GSIFFTGSAS KGEDGESTKS RRQSKPYKPK KIIKMEGKIV VYTACNNGSS SVISKDGELY
   661  MFGKDAIYSD SSSLVTDLKG HFVTQVAMGK AHTCVLMKNG EVWTFGVNNK GQCGRDTGAM
   721  NQGGKGFGVE NMATAMDEDL EEELDEKDEK SMMCPPGMHK WKLEQCMVCT VCGDCTGYGA
   781  SCVSSGRPDR VPGGICGCGS GESGCAVCGC CKACARELDG QEARQRGILD AVKEMIPLDL
   841  LLAVPVPGVN IEEHLQLRQE EKRQRVIRRH RLEEGRGPLV FAGPIFMNHR EQALARLRSH
   901  PAQLKHKRDK HKDGSGERGE KDASKITTYP PGSVRFDCEL RAVQVSCGFH HSVVLMENGD
   961  VYTFGYGQHG QLGHGDVNSR GCPTLVQALP GPSTQVTAGS NHTAVLLMDG QVFTFGSFSK
  1021  GQLGRPILDV PYWNAKPAPM PNIGSKYGRK ATWIGASGDQ TFLRIDEALI NSHVLATSEI
  1081  FASKHIIGLV PASISEPPPF KCLLINKVDG SCKTFNDSEQ EDLQGFGVCL DPVYDVIWRF
  1141  RPNTRELWCY NAVVADARLP SAADMQSRCS ILSPELALPT GSRALTTRSH AALHILGCLD
  1201  TLAAMQDLKM GVASTEEETQ AVMKVYSKED YSVVNRFESH GGGWGYSAHS VEAIRFSADT
  1261  DILLGGLGLF GGRGEYTAKI KLFELGPDGG DHETDGDLLA ETDVLAYDCA AREKYAMMFD
  1321  EPVLLQAGWW YVAWARVSGP SSDCGSHGQA SITTDDGVVF QFKSSKKSNN GTDVNAGQIP
  1381  QLLYRLPTSD GSASKGKQQT SEPVHILKRS FARTVSVECF ESLLSILHWS WTTLVLGVEE
  1441  LRGLKGFQFT ATLLDLERLR FVGTCCLRLL RVYTCEIYPV SATGKAVVEE TSKLAECIGK
  1501  TRTLLRKILS EGVDHCMVKL DNDPQGYLSQ PLSLLEAVLQ ECHNTFTACF HSFYPTPALQ
  1561  WACLCDLLNC LDQDIQEANF KTSSSRLLAA VMSALCHTSV KLTSIFPIAY DGEVLLRSIV
  1621  KQVSTENDST LVHRFPLLVA HMEKLSQSEE NISGMTSFRE VLEKMLVIVV LPVRNSLRRE
  1681  NELFSSHLVS NTCGLLASIV SELTASALGS EVDGLNSLHS VKASANRFTK TSQGRSWNTG
  1741  NGSPDAICFS VDKPGIVVVG FSVYGGGGIH EYELEVLVDD SEHAGDSTHS HRWTSLELVK
  1801  GTYTTDDSPS DIAEIRLDKV VPLKENVKYA VRLRNYGSRT ANGDGGMTTV QCPDGVTFTF
  1861  STCSLSSNGT NQTRGQIPQI LYYRSEFDGD LQSQLLSKAN EEDKNCSRAL SVVSTVVRAS
  1921  KDLLHRALAV DADDIPELLS SSSLFSMLLP LIIAYIGPVA AAIPKVAVEV FGLVQQLLPS
  1981  VAILNQKYAP PAFNPNQSTD STTGNQPEQG LSACTTSSHY AVIESEHPYK PACVMHYKVT
  2041  FPECVRWMTI EFDPQCGTAQ SEDVLRLLIP VRTVQNSGYG PKLTSVHENL NSWIELKKFS
  2101  GSSGWPTMVL VLPGNEALFS LETASDYVKD DKASFYGFKC FAIGYEFSPG PDEGVIQLEK
  2161  ELANLGGVCA AALMKKDLAL PIGNELEEDL EILEEAALQV CKTHSGILGK GLALSHSPTI
  2221  LEALEGNLPL QIQSNEQSFL DDFIACVPGS SGGRLARWLQ PDSYADPQKT SLILNKDDIR
  2281  CGWPTTITVQ TKDQYGDVVH VPNMKVEVKA VPVSQKKMSL QQDQAKKPQR IPGSPAVTAA
  2341  SSNTDMTYGG LASPKLDVSY EPMIVKEARY IAITMMKVYE NYSFEELRFA SPTPKRPSEN
  2401  MLIRVNNDGT YCANWTPGAI GLYTLHVTID GIEIDAGLEV KVKDPPKGMI PPGTQLVKPK
  2461  SEPQPNKVRK FVAKDSAGLR IRSHPSLQSE QIGIVKVNGT ITFIDEIHND DGVWLRLNDE
  2521  TIKKYVPNMN GYTEAWCLSF NQHLGKSLLV PVDESKTNTD DFFKDINSCC PQEATMQEQD
  2581  MPFLRGGPGM YKVVKTGPSG HNIRSCPNLR GIPIGMLVLG NKVKAVGEVT NSEGTWVQLD
  2641  QNSMVEFCES DEGEAWSLAR DRGGNQYLRH EDEQALLDQN SQTPPPSPFS VQAFNKGASC
  2701  SAQGFDYGLG NSKGDRGNIS TSSKPASTSG KSELSSKHSR SLKPDGRMSR TTADQKKPRG
  2761  TESLSASESL ILKSDAAKLR SDSHSRSLSP NHNTLQTLKS DGRMPSSSRA ESPGPGSRLS
  2821  SPKPKTLPAN RSSPSGASSP RSSSPHDKNL PQKSTAPVKT KLDPPRERSK SDSYTLDPDT
  2881  LRKKKMPLTE PLRGRSTSPK PKSVPKDSTD SPGSENRAPS PHVVQENLHS EVVEVCTSST
  2941  LKTNSLTDST CDDSSEFKSV DEGSNKVHFS IGKAPLKDEQ EMRASPKISR KCANRHTRPK
  3001  KEKSSFLFKG DGSKPLEPAK QAMSPSVAEC ARAVFASFLW HEGIVHDAMA CSSFLKFHPE
  3061  LSKEHAPIRS SLNSQQPTEE KETKLKNRHS LEISSALNMF NIAPHGPDIS KMGSINKNKV
  3121  LSMLKEPPLH EKCEDGKTET TFEMSMHNTM KSKSPLPLTL QHLVAFWEDI SLATIKAASQ
  3181  NMIFPSPGSC AVLKKKECEK ENKKSKKEKK KKEKAEVRPR GNLFGEMAQL AVGGPEKDTI
  3241  CELCGESHPY PVTYHMRQAH PGCGRYAGGQ GYNSIGHFCG GWAGNCGDGG IGGSTWYLVC
  3301  DRCREKYLRE KQAAAREKVK QSRRKPMQVK TPRALPTMEA HQVIKANALF LLSLSSAAEP
  3361  SILCYHPAKP FQSQLPSVKE GISEDLPVKM PCLYLQTLAR HHHENFVGYQ DDNLFQDEMR
  3421  YLRSTSVPAP YISVTPDASP NVFEEPESNM KSMPPSLETS PITDTDLAKR TVFQRSYSVV
  3481  ASEYDKQHSI LPARVKAIPR RRVNSGDTEV GSSLLRHPSP ELSRLISAHS SLSKGERNFQ
  3541  WPVLAFVIQH HDLEGLEIAM KQALRKSACR VFAMEAFNWL LCNVIQTTSL HDILWHFVAS
  3601  LTPAPVEPEE EEDEENKTSK ENSEQEKDTR VCEHPLSDIV IAGEAAHPLP HTFHRLLQTI
  3661  SDLMMSLPSG SSLQQMALRC WSLKFKQSDH QFLHQSNVFH HINNILSKSD DGDSEESFSI
  3721  SIQSGFEAMS QELCIVMCLK DLTSIVDIKT SSRPAMIGSL TDGSTETFWE SGDEDKNKTK
  3781  NITINCVKGI NARYVSVHVD NSRDLGNKVT SMTFLTGKAV EDLCRIKQVD LDSRHIGWVT
  3841  SELPGGDNHI IKIELKGPEN TLRVRQVKVL GWKDGESTKI AGQISASVAQ QRNCEAETLR
  3901  VFRLITSQVF GKLISGDAEP TPEQEEKALL SSPEGEEKVY NATSDADLKE HMVGIIFSRS
  3961  KLTNLQKQVC AHIVQAIRME ATRVREEWEH AISSKENANS QPNDEDASSD AYCFELLSMV
  4021  LALSGSNVGR QYLAQQLTLL QDLFSLLHTA SPRVQRQVTS LLRRVLPEVT PSRLASIIGV
  4081  KSLPPADISD IIHSTEKGDW NKLGILDMFL GCIAKALTVQ LKAKGTTITG TAGTTVGKGV
  4141  TTVTLPMIFN SSYLRRGESH WWMKGSTPTQ ISEIIIKLIK DMAAGHLSEA WSRVTKNAIA
  4201  ETIIALTKME EEFRSPVRCI ATTRLWLALA SLCVLDQDHV DRLSSGRWMG KDGQQKQMPM
  4261  CDNHDDGETA AIILCNVCGN LCTDCDRFLH LHRRTKTHQR QVFKEEEEAI KVDLHEGCGR
  4321  TKLFWLMALA DSKTMKAMVE FREHTGKPTT SSSEACRFCG SRSGTELSAV GSVCSDADCQ
  4381  EYAKIACSKT HPCGHPCGGV KNEEHCLPCL HGCDKSATSL KQDADDMCMI CFTEALSAAP
  4441  AIQLDCSHIF HLQCCRRVLE NRWLGPRITF GFISCPICKN KINHIVLKDL LDPIKELYED
  4501  VRRKALMRLE YEGLHKSEAI TTPGVRFYND PAGYAMNRYA YYVCYKCRKA YFGGEARCDA
  4561  EAGRGDDYDP RELICGACSD VSRAQMCPKH GTDFLEYKCR YCCSVAVFFC FGTTHFCNAC
  4621  HDDFQRMTSI PKEELPHCPA GPKGKQLEGT ECPLHVVHPP TGEEFALGCG VCRNAHTF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYCBP2 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: 45 nTPM

Expression across tissuesHPA

Tissue

skin: 45 nTPM
adipose tissue: 38 nTPM
cerebellum: 36 nTPM
cerebral cortex: 36 nTPM
blood vessel: 30 nTPM
spleen: 28 nTPM

Single-cell type

adipocytes: 1,067 nCPM
ependymal cells: 801 nCPM
microglia: 656 nCPM
monocyte progenitors: 627 nCPM
b-cells: 597 nCPM
thymocytes: 558 nCPM

Immune cell

memory B-cell: 3.1 nTPM
naive CD4 T-cell: 2.8 nTPM
T-reg: 2.4 nTPM
naive B-cell: 2.3 nTPM
memory CD4 T-cell: 2.1 nTPM
gdT-cell: 1.9 nTPM

Brain region

cerebral cortex: 67 nTPM
basal ganglia: 63 nTPM
pons: 53 nTPM
hippocampal formation: 52 nTPM
medulla oblongata: 50 nTPM
hypothalamus: 50 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYCBP2.

Disease | GeneticClinVar

18 pathogenic / likely-pathogenic of 851 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

See cases
MYCBP2-associated neurodevelopmental disorder
MYCBP2-related disorder

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): 0.12
gnomAD pLI: 1
gnomAD missense Z: 6.05
DepMap mean gene effect: 0.02
DepMap dependency class: none

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 MYCBP2 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 MYCBP2 as an antibody target. Whether an autoantibody or antibody against MYCBP2 could matter depends on whether native MYCBP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MYCBP2 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 MYCBP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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