Seroatlas · Human Serome Atlas

UNC80

Protein unc-80 homolog

Also known as: C2orf21, FLJ33496, KIAA1843, UNC-80, UNC80_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q8N2C7
Gene: UNC80
Ensembl: ENSG00000144406
Chromosome: 2
Canonical length: 3258 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Nuclear bodies,Vesicles

OverviewNCBI Gene

The protein encoded by this gene is a component of a voltage-independent 'leak' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. [provided by RefSeq, Aug 2016]

Canonical amino-acid sequenceUniProt

3258 residues, UniProt reviewed canonical sequence.

>Q8N2C7|UNC80
     1  MVKRKSSEGQ EQDGGRGIPL PIQTFLWRQT SAFLRPKLGK QYEASCVSFE RVLVENKLHG
    61  LSPALSEAIQ SISRWELVQA ALPHVLHCTA TLLSNRNKLG HQDKLGVAET KLLHTLHWML
   121  LEAPQDCNNE RFGGTDRGSS WGGSSSAFIH QVENQGSPGQ PCQSSSNDEE ENNRRKIFQN
   181  SMATVELFVF LFAPLVHRIK ESDLTFRLAS GLVIWQPMWE HRQPGVSGFT ALVKPIRNII
   241  TAKRSSPINS QSRTCESPNQ DARHLEGLQV VCETFQSDSI SPKATISGCH RGNSFDGSLS
   301  SQTSQERGPS HSRASLVIPP CQRSRYATYF DVAVLRCLLQ PHWSEEGTQW SLMYYLQRLR
   361  HMLEEKPEKP PEPDIPLLPR PRSSSMVAAA PSLVNTHKTQ DLTMKCNEEE KSLSSEAFSK
   421  VSLTNLRRSA VPDLSSDLGM NIFKKFKSRK EDRERKGSIP FHHTGKRRPR RMGVPFLLHE
   481  DHLDVSPTRS TFSFGSFSGL GEDRRGIEKG GWQTTILGKL TRRGSSDAAT EMESLSARHS
   541  HSHHTLVSDL PDPSNSHGEN TVKEVRSQIS TITVATFNTT LASFNVGYAD FFNEHMRKLC
   601  NQVPIPEMPH EPLACANLPR SLTDSCINYS YLEDTEHIDG TNNFVHKNGM LDLSVVLKAV
   661  YLVLNHDISS RICDVALNIV ECLLQLGVVP CVEKNRKKSE NKENETLEKR PSEGAFQFKG
   721  VSGSSTCGFG GPAVSGAGDG GGEEGGGGDG GGGGGDGGGG GGGGGGPYEK NDKNQEKDES
   781  TPVSNHRLAL TMLIKIVKSL GCAYGCGEGH RGLSGDRLRH QVFRENAQNC LTKLYKLDKM
   841  QFRQTMRDYV NKDSLNNVVD FLHALLGFCM EPVTDNKAGF GNNFTTVDNK STAQNVEGII
   901  VSAMFKSLIT RCASTTHELH SPENLGLYCD IRQLVQFIKE AHGNVFRRVA LSALLDSAEK
   961  LAPGKKVEEN EQESKPAGSK RSEAGSIVDK GQVSSAPEEC RSFMSGRPSQ TPEHDEQMQG
  1021  ANLGRKDFWR KMFKSQSAAS DTSSQSEQDT SECTTAHSGT TSDRRARSRS RRISLRKKLK
  1081  LPIGKRNWLK RSSLSGLADG VEDLLDISSV DRLSFIRQSS KVKFTSAVKL SEGGPGSGME
  1141  NGRDEEENFF KRLGCHSFDD HLSPNQDGGK SKNVVNLGAI RQGMKRFQFL LNCCEPGTIP
  1201  DASILAAALD LEAPVVARAA LFLECARFVH RCNRGNWPEW MKGHHVNITK KGLSRGRSPI
  1261  VGNKRNQKLQ WNAAKLFYQW GDAIGVRLNE LCHGESESPA NLLGLIYDEE TKRRLRKEDE
  1321  EEDFLDDSTV NPSKCGCPFA LKMAACQLLL EITTFLRETF SCLPRPRTEP LVDLESCRLR
  1381  LDPELDRHRY ERKISFAGVL DENEDSKDSL HSSSHTLKSD AGVEEKKEGS PWSASEPSIE
  1441  PEGMSNAGAE ENYHRNMSWL HVMILLCNQQ SFICTHVDYC HPHCYLHHSR SCARLVRAIK
  1501  LLYGDSVDSL RESSNISSVA LRGKKQKECS DKSCLRTPSL KKRVSDANLE GKKDSGMLKY
  1561  IRLQVMSLSP APLSLLIKAA PILTEEMYGD IQPAAWELLL SMDEHMAGAA AAMFLLCAVK
  1621  VPEAVSDMLM SEFHHPETVQ RLNAVLKFHT LWRFRYQVWP RMEEGAQQIF KIPPPSINFT
  1681  LPSPVLGMPS VPMFDPPWVP QCSGSVQDPI NEDQSKSFSA RAVSRSHQRA EHILKNLQQE
  1741  EEKKRLGREA SLITAIPITQ EACYEPTCTP NSEPEEEVEE VTNLASRRLS VSPSCTSSTS
  1801  HRNYSFRRGS VWSVRSAVSA EDEEHTTEHT PNHHVPQPPQ AVFPACICAA VLPIVHLMED
  1861  GEVREDGVAV SAVAQQVLWN CLIEDPSTVL RHFLEKLTIS NRQDELMYML RKLLLNIGDF
  1921  PAQTSHILFN YLVGLIMYFV RTPCEWGMDA ISATLTFLWE VVGYVEGLFF KDLKQTMKKE
  1981  QCEVKLLVTA SMPGTKTLVV HGQNECDIPT QLPVHEDTQF EALLKECLEF FNIPESQSTH
  2041  YFLMDKRWNL IHYNKTYVRD IYPFRRSVSP QLNLVHMHPE KGQELIQKQV FTRKLEEVGR
  2101  VLFLISLTQK IPTAHKQSHV SMLQEDLLRL PSFPRSAIDA EFSLFSDPQA GKELFGLDTL
  2161  QKSLWIQLLE EMFLGMPSEF PWGDEIMLFL NVFNGALILH PEDSALLRQY AATVINTAVH
  2221  FNHLFSLSGY QWILPTMLQV YSDYESNPQL RQAIEFACHQ FYILHRKPFV LQLFASVAPL
  2281  LEFPDAANNG PSKGVSAQCL FDLLQSLEGE TTDILDILEL VKAEKPLKSL DFCYGNEDLT
  2341  FSISEAIKLC VTVVAYAPES FRSLQMLMVL EALVPCYLQK LKRQTSQVET VPAAREEIAA
  2401  TAALATSLQA LLYSVEVLTR PMTAPQMSRC DQGHKGTTTA NHTMSSGVNT RYQEQGAKLH
  2461  FIRENLHLLE EGQGIPREEL DERIAREEFR RPRESLLNIC TEFYKHCGPR LKILQNLAGE
  2521  PRVIALELLD VKSHMRLAEI AHSLLKLAPY DTQTMESRGL RRYIMEMLPI TDWTAEAVRP
  2581  ALILILKRLD RMFNKIHKMP TLRRQVEWEP ASNLIEGVCL TLQRQPIISF LPHLRSLINV
  2641  CVNLVMGVVG PSSVADGLPL LHLSPYLSPP LPFSTAVVRL VALQIQALKE DFPLSHVISP
  2701  FTNQERREGM LLNLLIPFVL TVGSGSKDSP WLEQPEVQLL LQTVINVLLP PRIISTSRSK
  2761  NFMLESSPAH CSTPGDAGKD LRREGLAEST SQAAYLALKV ILVCFERQLG SQWYWLSLQV
  2821  KEMALRKVGG LALWDFLDFI VRTRIPIFVL LRPFIQCKLL AQPAENHEEL SARQHIADQL
  2881  ERRFIPRPLC KSSLIAEFNS ELKILKEAVH SGSAYQGKTS ISTVGTSTSA YRLSLATMSR
  2941  SNTGTGTVWE QDSEPSQQAS QDTLSRTDEE DEENDSISMP SVVSEQEAYL LSAIGRRRFS
  3001  SHVSSMSVPQ AEVGMLPSQS EPNVLDDSQG LAAEGSLSRV ASIQSEPGQQ NLLVQQPLGR
  3061  KRGLRQLRRP LLSRQKTQTE PRNRQGARLS TTRRSIQPKT KPSADQKRSV TFIEAQPEPA
  3121  AAPTDALPAT GQLQGCSPAP SRKPEAMDEP VLTSSPAIVV ADLHSVSPKQ SENFPTEEGE
  3181  KEEDTEAQGA TAHSPLSAQL SDPDDFTGLE TSSLLQHGDT VLHISEENGM ENPLLSSQFT
  3241  FTPTELGKTD AVLDESHV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against UNC80 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: 4
Mean surface accessibility (rSASA): 0
Highest tissue expression: 30 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 30 nTPM
retina: 18 nTPM
pituitary gland: 13 nTPM
cerebral cortex: 11 nTPM
basal ganglia: 9.2 nTPM
hypothalamus: 7.5 nTPM

Single-cell type

thyrotrophs: 817 nCPM
sertoli cells: 807 nCPM
lactotrophs: 787 nCPM
somatotrophs: 785 nCPM
corticotrophs: 769 nCPM
oligodendrocyte progenitor cells: 654 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

cerebral cortex: 88 nTPM
cerebellum: 77 nTPM
pons: 58 nTPM
basal ganglia: 58 nTPM
white matter: 54 nTPM
hypothalamus: 53 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about UNC80.

Disease | AllUniProt

Conditions UNC80 is implicated in, by any mechanism.

Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (IHPRF2) MIM:616801

Disease | GeneticClinVar

148 pathogenic / likely-pathogenic of 2,605 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
UNC80-related disorder
Encephalopathy
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies

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): 0.31
gnomAD pLI: 0.05
gnomAD missense Z: 5.53
DepMap mean gene effect: 0.11
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

monoatomic cation homeostasis

Molecular functions

monoatomic cation channel activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Cation channel complex component UNC80, N-terminal
Protein UNC80, central region
Protein UNC80, C-terminal
UNC80 N-terminal
Protein UNC80 central region
Protein UNC80 C-terminal region

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of UNC80 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 UNC80 as an antibody target. Whether an autoantibody or antibody against UNC80 could matter depends on whether native UNC80 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

UNC80 is annotated at the cell surface, where native UNC80 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 UNC80 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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