Seroatlas · Human Serome Atlas

SHROOM2

Protein Shroom2

Also known as: APXL, SHRM2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q13796
Gene: SHROOM2
Ensembl: ENSG00000146950
Chromosome: X
Canonical length: 1616 aa
Protein class: Plasma proteins, Predicted intracellular proteins
Subcellular location: Plasma membrane,Cell Junctions,Cytosol

OverviewNCBI Gene

This gene represents the human homolog of Xenopus laevis apical protein (APX) gene, which is implicated in amiloride-sensitive sodium channel activity. It is expressed in endothelial cells and facilitates the formation of a contractile network within endothelial cells. Depletion of this gene results in an increase in endothelial sprouting, migration, and angiogenesis. This gene is highly expressed in the retina, and is a strong candidate for ocular albinism type 1 syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]

Canonical amino-acid sequenceUniProt

1616 residues, UniProt reviewed canonical sequence.

>Q13796|SHROOM2
     1  MEGAEPRARP ERLAEAETRA ADGGRLVEVQ LSGGAPWGFT LKGGREHGEP LVITKIEEGS
    61  KAAAVDKLLA GDEIVGINDI GLSGFRQEAI CLVKGSHKTL KLVVKRRSEL GWRPHSWHAT
   121  KFSDSHPELA ASPFTSTSGC PSWSGRHHAS SSSHDLSSSW EQTNLQRTLD HFSSLGSVDS
   181  LDHPSSRLSV AKSNSSIDHL GSHSKRDSAY GSFSTSSSTP DHTLSKADTS SAENILYTVG
   241  LWEAPRQGGR QAQAAGDPQG SEEKLSCFPP RVPGDSGKGP RPEYNAEPKL AAPGRSNFGP
   301  VWYVPDKKKA PSSPPPPPPP LRSDSFAATK SHEKAQGPVF SEAAAAQHFT ALAQAQPRGD
   361  RRPELTDRPW RSAHPGSLGK GSGGPGCPQE AHADGSWPPS KDGASSRLQA SLSSSDVRFP
   421  QSPHSGRHPP LYSDHSPLCA DSLGQEPGAA SFQNDSPPQV RGLSSCDQKL GSGWQGPRPC
   481  VQGDLQAAQL WAGCWPSDTA LGALESLPPP TVGQSPRHHL PQPEGPPDAR ETGRCYPLDK
   541  GAEGCSAGAQ EPPRASRAEK ASQRLAASIT WADGESSRIC PQETPLLHSL TQEGKRRPES
   601  SPEDSATRPP PFDAHVGKPT RRSDRFATTL RNEIQMHRAK LQKSRSTVAL TAAGEAEDGT
   661  GRWRAGLGGG TQEGPLAGTY KDHLKEAQAR VLRATSFKRR DLDPNPGDLY PESLEHRMGD
   721  PDTVPHFWEA GLAQPPSSTS GGPHPPRIGG RRRFTAEQKL KSYSEPEKMN EVGLTRGYSP
   781  HQHPRTSEDT VGTFADRWKF FEETSKPVPQ RPAQKQALHG IPRDKPERPR TAGRTCEGTE
   841  PWSRTTSLGD SLNAHSAAEK AGTSDLPRRL GTFAEYQASW KEQRKPLEAR SSGRCHSADD
   901  ILDVSLDPQE RPQHVHGRSR SSPSTDHYKQ EASVELRRQA GDPGEPREEL PSAVRAEEGQ
   961  STPRQADAQC REGSPGSQQH PPSQKAPNPP TFSELSHCRG APELPREGRG RAGTLPRDYR
  1021  YSEESTPADL GPRAQSPGSP LHARGQDSWP VSSALLSKRP APQRPPPPKR EPRRYRATDG
  1081  APADAPVGVL GRPFPTPSPA SLDVYVARLS LSHSPSVFSS AQPQDTPKAT VCERGSQHVS
  1141  GDASRPLPEA LLPPKQQHLR LQTATMETSR SPSPQFAPQK LTDKPPLLIQ DEDSTRIERV
  1201  MDNNTTVKMV PIKIVHSESQ PEKESRQSLA CPAEPPALPH GLEKDQIKTL STSEQFYSRF
  1261  CLYTRQGAEP EAPHRAQPAE PQPLGTQVPP EKDRCTSPPG LSYMKAKEKT VEDLKSEELA
  1321  REIVGKDKSL ADILDPSVKI KTTMDLMEGI FPKDEHLLEE AQQRRKLLPK IPSPRSTEER
  1381  KEEPSVPAAV SLATNSTYYS TSAPKAELLI KMKDLQEQQE HEEDSGSDLD HDLSVKKQEL
  1441  IESISRKLQV LREARESLLE DVQANTVLGA EVEAIVKGVC KPSEFDKFRM FIGDLDKVVN
  1501  LLLSLSGRLA RVENALNNLD DGASPGDRQS LLEKQRVLIQ QHEDAKELKE NLDRRERIVF
  1561  DILANYLSEE SLADYEHFVK MKSALIIEQR ELEDKIHLGE EQLKCLLDSL QPERGK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SHROOM2 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): 0.62
Highest tissue expression: 19 nTPM

Expression across tissuesHPA

Tissue

retina: 19 nTPM
cerebral cortex: 9.7 nTPM
placenta: 7.1 nTPM
ovary: 6 nTPM
spinal cord: 5.3 nTPM
prostate: 4.9 nTPM

Single-cell type

renal collecting duct intercalated cells: 160 nCPM
peritubular myoid cells: 149 nCPM
tuft cells: 138 nCPM
rod photoreceptor cells: 107 nCPM
prostatic glandular cells: 81 nCPM
cytotrophoblasts: 81 nCPM

Immune cell

neutrophil: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

cerebral cortex: 25 nTPM
basal ganglia: 16 nTPM
choroid plexus: 16 nTPM
white matter: 15 nTPM
hippocampal formation: 15 nTPM
midbrain: 15 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SHROOM2.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 362 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Meniere disease

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): 0.53
gnomAD pLI: 0
gnomAD missense Z: -0.33
DepMap mean gene effect: 0.02
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SHROOM2 as an antibody target. Whether an autoantibody or antibody against SHROOM2 could matter depends on whether native SHROOM2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SHROOM2 is annotated at the cell surface, where native SHROOM2 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 SHROOM2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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