Seroatlas · Human Serome Atlas

SH3GL2

Endophilin-A1

Also known as: CNSA2, EEN-B1, SH3D2A, SH3G2_HUMAN, SH3P4

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

Protein identityUniProt · HPA

UniProt accession
Q99962
Gene
SH3GL2
Ensembl
ENSG00000107295
Chromosome
9
Canonical length
352 aa
Protein class
Predicted intracellular proteins
Subcellular location
Microtubules,Cytokinetic bridge,Mitotic spindle
Quaternary structure
Homodimer

OverviewNCBI Gene

Enables identical protein binding activity. Involved in negative regulation of blood-brain barrier permeability; negative regulation of gene expression; and negative regulation of signal transduction. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

352 residues, UniProt reviewed canonical sequence.

>Q99962|SH3GL2
     1  MSVAGLKKQF HKATQKVSEK VGGAEGTKLD DDFKEMERKV DVTSRAVMEI MTKTIEYLQP
    61  NPASRAKLSM INTMSKIRGQ EKGPGYPQAE ALLAEAMLKF GRELGDDCNF GPALGEVGEA
   121  MRELSEVKDS LDIEVKQNFI DPLQNLHDKD LREIQHHLKK LEGRRLDFDY KKKRQGKIPD
   181  EELRQALEKF DESKEIAESS MFNLLEMDIE QVSQLSALVQ AQLEYHKQAV QILQQVTVRL
   241  EERIRQASSQ PRREYQPKPR MSLEFPTGDS TQPNGGLSHT GTPKPSGVQM DQPCCRALYD
   301  FEPENEGELG FKEGDIITLT NQIDENWYEG MLHGHSGFFP INYVEILVAL PH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SH3GL2 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)
0.37
Highest tissue expression
228 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 228 nTPM
  • cerebral cortex: 132 nTPM
  • retina: 70 nTPM
  • amygdala: 52 nTPM
  • hippocampal formation: 51 nTPM
  • basal ganglia: 38 nTPM

Single-cell type

  • brain excitatory neurons: 550 nCPM
  • retinal bipolar cells: 470 nCPM
  • cone photoreceptor cells: 443 nCPM
  • corticotrophs: 317 nCPM
  • thyrotrophs: 264 nCPM
  • lactotrophs: 255 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: 203 nTPM
  • cerebellum: 199 nTPM
  • basal ganglia: 137 nTPM
  • white matter: 119 nTPM
  • hippocampal formation: 101 nTPM
  • thalamus: 92 nTPM

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)
0.79
gnomAD pLI
0
gnomAD missense Z
0.96
DepMap mean gene effect
0.09
DepMap dependency class
selective

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SH3GL2 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 SH3GL2 as an antibody target. Whether an autoantibody or antibody against SH3GL2 could matter depends on whether native SH3GL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SH3GL2 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 SH3GL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SH3GL2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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