PTBP2

Protein identityUniProt · HPA

UniProt accession

Q9UKA9

Gene

PTBP2

Ensembl

ENSG00000117569

Chromosome

1

Canonical length

531 aa

Protein class

Plasma proteins, Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI Gene

The protein encoded by this gene binds to intronic polypyrimidine clusters in pre-mRNA molecules and is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is very similar to the polypyrimidine tract binding protein (PTB) but most of its isoforms are expressed primarily in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Canonical amino-acid sequenceUniProt

531 residues, UniProt reviewed canonical sequence.

>Q9UKA9|PTBP2
     1  MDGIVTEVAV GVKRGSDELL SGSVLSSPNS NMSSMVVTAN GNDSKKFKGE DKMDGAPSRV
    61  LHIRKLPGEV TETEVIALGL PFGKVTNILM LKGKNQAFLE LATEEAAITM VNYYSAVTPH
   121  LRNQPIYIQY SNHKELKTDN TLNQRAQAVL QAVTAVQTAN TPLSGTTVSE SAVTPAQSPV
   181  LRIIIDNMYY PVTLDVLHQI FSKFGAVLKI ITFTKNNQFQ ALLQYGDPVN AQQAKLALDG
   241  QNIYNACCTL RIDFSKLVNL NVKYNNDKSR DYTRPDLPSG DGQPALDPAI AAAFAKETSL
   301  LAVPGALSPL AIPNAAAAAA AAAAGRVGMP GVSAGGNTVL LVSNLNEEMV TPQSLFTLFG
   361  VYGDVQRVKI LYNKKDSALI QMADGNQSQL AMNHLNGQKM YGKIIRVTLS KHQTVQLPRE
   421  GLDDQGLTKD FGNSPLHRFK KPGSKNFQNI FPPSATLHLS NIPPSVAEED LRTLFANTGG
   481  TVKAFKFFQD HKMALLQMAT VEEAIQALID LHNYNLGENH HLRVSFSKST I

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PTBP2 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)

0.39

Highest tissue expression

26 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PTBP2.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 63 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• PTBP2-related neurodevelopmental 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)

0.22

gnomAD pLI

1

gnomAD missense Z

3.2

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

• cerebellum development
• mRNA splice site recognition
• negative regulation of RNA splicing
• regulation of neural precursor cell proliferation
• regulation of RNA splicing
• spinal cord development

Molecular functions

• mRNA binding
• RNA binding

Cellular components

• growth cone
• neuronal cell body
• nucleus
• spliceosomal complex

Protein domainsUniProt · Pfam · InterPro

• RNA recognition motif domain
• HnRNP-L/PTB
• Nucleotide-binding alpha-beta plait domain superfamily
• PTBP1-like, RNA recognition motif 2
• RNA-binding domain superfamily
• Heterogeneous nuclear ribonucleoprotein L, RRM domain
• RRM-like domain
• RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)
• RRM domain
• PTBP2, RNA recognition motif 3
• PTBP2, RNA recognition motif 4
• PTBP2, RNA recognition motif 1

KeywordsUniProt

• Acetylation
• mRNA processing
• mRNA splicing
• Nucleus
• Phosphoprotein
• Repeat
• RNA-binding

InteractionsUniProt · HPA

Protein binding partners of PTBP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NOVA1
• NOVA2
• QKI
• RBM10