Seroatlas · Human Serome Atlas

U2AF2

Splicing factor U2AF 65 kDa subunit

Also known as: U2AF2_HUMAN, U2AF65

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

Protein identityUniProt · HPA

UniProt accession: P26368
Gene: U2AF2
Ensembl: ENSG00000063244
Chromosome: 19
Canonical length: 475 aa
Protein class: Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nuclear speckles

OverviewNCBI Gene

U2 auxiliary factor (U2AF), comprised of a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the U2AF large subunit which contains a sequence-specific RNA-binding region with 3 RNA recognition motifs and an Arg/Ser-rich domain necessary for splicing. The large subunit binds to the polypyrimidine tract of introns early during spliceosome assembly. Multiple transcript variants have been detected for this gene, but the full-length natures of only two have been determined to date. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

475 residues, UniProt reviewed canonical sequence.

>P26368|U2AF2
     1  MSDFDEFERQ LNENKQERDK ENRHRKRSHS RSRSRDRKRR SRSRDRRNRD QRSASRDRRR
    61  RSKPLTRGAK EEHGGLIRSP RHEKKKKVRK YWDVPPPGFE HITPMQYKAM QAAGQIPATA
   121  LLPTMTPDGL AVTPTPVPVV GSQMTRQARR LYVGNIPFGI TEEAMMDFFN AQMRLGGLTQ
   181  APGNPVLAVQ INQDKNFAFL EFRSVDETTQ AMAFDGIIFQ GQSLKIRRPH DYQPLPGMSE
   241  NPSVYVPGVV STVVPDSAHK LFIGGLPNYL NDDQVKELLT SFGPLKAFNL VKDSATGLSK
   301  GYAFCEYVDI NVTDQAIAGL NGMQLGDKKL LVQRASVGAK NATLVSPPST INQTPVTLQV
   361  PGLMSSQVQM GGHPTEVLCL MNMVLPEELL DDEEYEEIVE DVRDECSKYG LVKSIEIPRP
   421  VDGVEVPGCG KIFVEFTSVF DCQKAMQGLT GRKFANRVVV TKYCDPDSYH RRDFW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against U2AF2 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): 0.41
Highest tissue expression: 96 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 96 nTPM
thymus: 86 nTPM
spleen: 73 nTPM
lymph node: 72 nTPM
pituitary gland: 70 nTPM
appendix: 68 nTPM

Single-cell type

syncytiotrophoblasts: 83 nCPM
oocytes: 78 nCPM
migrating cytotrophoblasts: 76 nCPM
extravillous trophoblasts: 73 nCPM
cytotrophoblasts: 68 nCPM
adrenal cortex cells: 64 nCPM

Immune cell

neutrophil: 2.1 nTPM
plasmacytoid DC: 1.7 nTPM
intermediate monocyte: 1.4 nTPM
gdT-cell: 1.2 nTPM
non-classical monocyte: 1.2 nTPM
classical monocyte: 1.1 nTPM

Brain region

white matter: 66 nTPM
medulla oblongata: 64 nTPM
choroid plexus: 61 nTPM
cerebellum: 60 nTPM
thalamus: 57 nTPM
cerebral cortex: 57 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about U2AF2.

Disease | AllUniProt

Conditions U2AF2 is implicated in, by any mechanism.

Developmental delay, dysmorphic facies, and brain anomalies (DEVDFB) MIM:620535

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 96 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Developmental delay, dysmorphic facies, and brain anomalies
Inborn genetic diseases
U2AF2-related neurodevelopmental disorder
Neurodevelopmental disorder
Leukodystrophy

Disease | ImmuneIEDB

Conditions an epitope on U2AF2 was assayed in.

colon adenocarcinoma T cell

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): 0.13
gnomAD pLI: 1
gnomAD missense Z: 4.71
DepMap mean gene effect: -1.43
DepMap dependency class: pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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

RNA recognition motif domain
Nucleotide-binding alpha-beta plait domain superfamily
RNA-binding domain superfamily
RNA recognition motif
U2 snRNP auxilliary factor, large subunit, splicing factor

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of U2AF2 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 U2AF2 as an antibody target. Whether an autoantibody or antibody against U2AF2 could matter depends on whether native U2AF2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

U2AF2 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 U2AF2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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