Seroatlas · Human Serome Atlas

RUSC2

AP-4 complex accessory subunit RUSC2

Also known as: KIAA0375, RUSC2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q8N2Y8
Gene: RUSC2
Ensembl: ENSG00000198853
Chromosome: 9
Canonical length: 1516 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters

OverviewNCBI Gene

This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2012]

Canonical amino-acid sequenceUniProt

1516 residues, UniProt reviewed canonical sequence.

>Q8N2Y8|RUSC2
     1  MDSPPKLTGE TLIVHHIPLV HCQVPDRQCC GGAGGGGGST RPNPFCPPEL GITQPDQDLG
    61  QADSLLFSSL HSTPGGTARS IDSTKSRSRD GRGPGAPKRH NPFLLQEGVG EPGLGDLYDD
   121  SIGDSATQQS FHLHGTGQPN FHLSSFQLPP SGPRVGRPWG TTRSRAGVVE GQEQEPVMTL
   181  DTQQCGTSHC CRPELEAETM ELDECGGPGG SGSGGGASDT SGFSFDQEWK LSSDESPRNP
   241  GCSGSGDQHC RCSSTSSQSE AADQSMGYVS DSSCNSSDGV LVTFSTLYNK MHGTPRANLN
   301  SAPQSCSDSS FCSHSDPGAF YLDLQPSPFE SKMSYESHHP ESGGREGGYG CPHASSPELD
   361  ANCNSYRPHC EPCPAVADLT ACFQSQARLV VATQNYYKLV TCDLSSQSSP SPAGSSITSC
   421  SEEHTKISPP PGPGPDPGPS QPSEYYLFQK PEVQPEEQEA VSSSTQAAAA VGPTVLEGQV
   481  YTNTSPPNLS TGRQRSRSYD RSLQRSPPVR LGSLERMLSC PVRLSEGPAA MAGPGSPPRR
   541  VTSFAELAKG RKKTGGSGSP PLRVSVGDSS QEFSPIQEAQ QDRGAPLDEG TCCSHSLPPM
   601  PLGPGMDLLG PDPSPPWSTQ VCQGPHSSEM PPAGLRATGQ GPLAQLMDPG PALPGSPANS
   661  HTQRDARARA DGGGTESRPV LRYSKEQRPT TLPIQPFVFQ HHFPKQLAKA RALHSLSQLY
   721  SLSGCSRTQQ PAPLAAPAAQ VSVPAPSGEP QASTPRATGR GARKAGSEPE TSRPSPLGSY
   781  SPIRSVGPFG PSTDSSASTS CSPPPEQPTA TESLPPWSHS CPSAVRPATS QQPQKEDQKI
   841  LTLTEYRLHG TGSLPPLGSW RSGLSRAESL ARGGGEGSMA TRPSNANHLS PQALKWREYR
   901  RKNPLGPPGL SGSLDRRSQE ARLARRNPIF EFPGSLSAAS HLNCRLNGQA VKPLPLTCPD
   961  FQDPFSLTEK PPAEFCLSPD GSSEAISIDL LQKKGLVKAV NIAVDLIVAH FGTSRDPGVK
  1021  AKLGNSSVSP NVGHLVLKYL CPAVRAVLED GLKAFVLDVI IGQRKNMPWS VVEASTQLGP
  1081  STKVLHGLYN KVSQFPELTS HTMRFNAFIL GLLNIRSLEF WFNHLYNHED IIQTHYQPWG
  1141  FLSAAHTVCP GLFEELLLLL QPLALLPFSL DLLFQHRLLQ SGQQQRQHKE LLRVSQDLLL
  1201  SAHSTLQLAR ARGQEGPGDV DRAAQGERVK GVGASEGGEE EEEEEETEEV AEAAGGSGRA
  1261  RWARGGQAGW WYQLMQSSQV YIDGSIEGSR FPRGSSNSSS EKKKGAGGGG PPQAPPPREG
  1321  VVEGAEACPA SEEALGRERG WPFWMGSPPD SVLAELRRSR EREGPAASPA ENEEGASEPS
  1381  PGGIKWGHLF GSRKAQREAR PTNRLPSDWL SLDKSMFQLV AQTVGSRREP EPKESLQEPH
  1441  SPALPSSPPC EVQALCHHLA TGPGQLSFHK GDILRVLGRA GGDWLRCSRG PDSGLVPLAY
  1501  VTLTPTPSPT PGSSQN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RUSC2 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: 0
Mean surface accessibility (rSASA): 0.63
Highest tissue expression: 56 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 56 nTPM
blood vessel: 55 nTPM
cerebellum: 53 nTPM
skeletal muscle: 43 nTPM
hippocampal formation: 36 nTPM
urinary bladder: 34 nTPM

Single-cell type

myonuclei: 345 nCPM
choroid plexus epithelial cells: 217 nCPM
adipocytes: 139 nCPM
fibro-adipogenic progenitors: 133 nCPM
distal convoluted tubule cells: 130 nCPM
corticotrophs: 127 nCPM

Immune cell

basophil: 3.1 nTPM
classical monocyte: 0.7 nTPM
total PBMC: 0.3 nTPM
intermediate monocyte: 0.2 nTPM
myeloid DC: 0.1 nTPM
non-classical monocyte: 0.1 nTPM

Brain region

cerebral cortex: 115 nTPM
white matter: 94 nTPM
basal ganglia: 91 nTPM
hippocampal formation: 89 nTPM
amygdala: 77 nTPM
pons: 77 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RUSC2.

Disease | AllUniProt

Conditions RUSC2 is implicated in, by any mechanism.

Intellectual developmental disorder, autosomal recessive 61 (MRT61) MIM:617773

Disease | GeneticClinVar

40 pathogenic / likely-pathogenic of 1,006 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability, autosomal recessive 61

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): 0.25
gnomAD pLI: 1
gnomAD missense Z: 0.95
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

Molecular functions

small GTPase binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

SH3 domain
RUN domain
SH3-like domain superfamily
RUN domain superfamily
AP-4 complex accessory subunit RUSC1/2
RUN domain
Variant SH3 domain
AP-4 complex accessory subunit RUSC2, RUN domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RUSC2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

RAB1B

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RUSC2 as an antibody target. Whether an autoantibody or antibody against RUSC2 could matter depends on whether native RUSC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RUSC2 is annotated at the cell surface, where native RUSC2 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 RUSC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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