ZRSR2
U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2
Also known as: U2AF1-RS2, U2AF1L2, U2AFM_HUMAN, URP, ZC3H22
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q15696
- Gene
- ZRSR2
- Ensembl
- ENSG00000169249
- Chromosome
- X
- Canonical length
- 482 aa
- Protein class
- Cancer-related genes, Human disease related genes, Predicted intracellular proteins
OverviewNCBI Gene
This gene encodes an essential splicing factor. The encoded protein associates with the U2 auxiliary factor heterodimer, which is required for the recognition of a functional 3' splice site in pre-mRNA splicing, and may play a role in network interactions during spliceosome assembly. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
482 residues, UniProt reviewed canonical sequence.
>Q15696|ZRSR2
1 MAAPEKMTFP EKPSHKKYRA ALKKEKRKKR RQELARLRDS GLSQKEEEED TFIEEQQLEE
61 EKLLERERQR LHEEWLLREQ KAQEEFRIKK EKEEAAKKRQ EEQERKLKEQ WEEQQRKERE
121 EEEQKRQEKK EKEEALQKML DQAENELENG TTWQNPEPPV DFRVMEKDRA NCPFYSKTGA
181 CRFGDRCSRK HNFPTSSPTL LIKSMFTTFG MEQCRRDDYD PDASLEYSEE ETYQQFLDFY
241 EDVLPEFKNV GKVIQFKVSC NLEPHLRGNV YVQYQSEEEC QAALSLFNGR WYAGRQLQCE
301 FCPVTRWKMA ICGLFEIQQC PRGKHCNFLH VFRNPNNEFW EANRDIYLSP DRTGSSFGKN
361 SERRERMGHH DDYYSRLRGR RNPSPDHSYK RNGESERKSS RHRGKKSHKR TSKSRERHNS
421 RSRGRNRDRS RDRSRGRGSR SRSRSRSRRS RRSRSQSSSR SRSRGRRRSG NRDRTVQSPK
481 SKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ZRSR2 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)
- 0.5
- Highest tissue expression
- 38 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 38 nTPM
- choroid plexus: 33 nTPM
- spleen: 28 nTPM
- lymph node: 25 nTPM
- blood vessel: 25 nTPM
- cerebellum: 22 nTPM
Single-cell type
- cardiomyocytes: 182 nCPM
- b-cells: 75 nCPM
- cdc: 73 nCPM
- tuft cells: 69 nCPM
- thyrotrophs: 68 nCPM
- myonuclei: 67 nCPM
Immune cell
- naive B-cell: 33 nTPM
- basophil: 32 nTPM
- memory B-cell: 31 nTPM
- naive CD4 T-cell: 23 nTPM
- neutrophil: 23 nTPM
- classical monocyte: 22 nTPM
Brain region
- cerebellum: 20 nTPM
- hypothalamus: 19 nTPM
- choroid plexus: 18 nTPM
- thalamus: 17 nTPM
- amygdala: 17 nTPM
- medulla oblongata: 17 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ZRSR2.
Disease | AllUniProt
Conditions ZRSR2 is implicated in, by any mechanism.
- Orofaciodigital syndrome 21 (OFD21) MIM:301132
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 139 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Orofaciodigital syndrome 21
- Abnormal heart morphology
- Severe hydrocephalus
- Holoprosencephaly sequence
- Median cleft lip and palate
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
- 1.46
- DepMap mean gene effect
- -0.68
- DepMap dependency class
- common
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
InteractionsUniProt · HPA
Protein binding partners of ZRSR2 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 ZRSR2 as an antibody target. Whether an autoantibody or antibody against ZRSR2 could matter depends on whether native ZRSR2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ZRSR2 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 ZRSR2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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