GSX2 is a homeodomain transcription factor in developing forebrain progenitors. Human lateral ganglionic eminence-like cells show predominantly transcriptional repression. Mouse reporter assays show monomer-site repression and homodimer-site activation. Recessive human variants disrupt basal ganglia development.
| GO Term | Evidence | Action | Reason |
|---|---|---|---|
| GO:0000785 chromatin | ISA GO_REF:0000113 | ACCEPT | Reason: Human inducible-GSX2 ChIP-seq supports chromatin association; the classification-based annotation is biologically coherent. |
| GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific | IBA GO_REF:0000033 | ACCEPT | Reason: The exact human sequence descends from the annotated ancestral node; its experimental self-donor is legitimate phylogenetic grounding. The parent covers context-dependent activation and repression. Supporting Evidence: GO_REF:0000033 file:human/GSX2/GSX2-source-evidence.json |
| GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific | IEA GO_REF:0000002 | ACCEPT | Reason: The verified homeobox signature supports the established sequence-specific Pol-II transcription factor function. The parent covers context-dependent activation and repression. |
| GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific | IMP PMID:31412107 Agenesis of the putamen and globus pallidus caused by recess... | ACCEPT | Reason: Human pathogenic variants alter downstream transcription in patient fibroblasts. The regulatory phenotype supports the established transcription-factor activity; predicted DNA contacts were molecular-dynamics results, not measured binding affinity. The parent covers context-dependent activation and repression. |
| GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific | ISA GO_REF:0000113 | ACCEPT | Reason: The homeodomain classification fits the established Pol-II transcription factor function. The parent covers context-dependent activation and repression. |
| GO:0003677 DNA binding | IEA GO_REF:0000120 | TOO GENERAL | Reason: The retained sequence-specific double-stranded DNA-binding activity is an is_a descendant of this broad term. Supporting Evidence: GO_REF:0000120 file:human/GSX2/GSX2-source-evidence.json |
| GO:0003700 DNA-binding transcription factor activity | IEA GO_REF:0000002 | TOO GENERAL | Reason: The retained Pol-II-specific transcription factor activity is an is_a descendant of this general activity. Supporting Evidence: GO_REF:0000002 file:human/GSX2/GSX2-source-evidence.json |
| GO:0005634 nucleus | IBA GO_REF:0000033 | ACCEPT | Reason: The ancestral assertion is on the exact human lineage; retain nuclear activity, distinct from the separate located_in annotations. Supporting Evidence: GO_REF:0000033 file:human/GSX2/GSX2-source-evidence.json |
| GO:0005634 nucleus | IEA GO_REF:0000044 | ACCEPT | Reason: Wild-type human GSX2 is predominantly nuclear in the inspected HeLa assays. |
| GO:0005634 nucleus | IMP PMID:31412107 Agenesis of the putamen and globus pallidus caused by recess... | ACCEPT | Reason: Human wild-type GSX2 was predominantly nuclear in transfected HeLa cells, supported by imaging and fractionation. Retain this tested localization without treating mutant redistribution as the normal state. Supporting Evidence: PMID:31412107 Wild-type GSX2 localized mainly in the cellular nuclei |
| GO:0005737 cytoplasm | IEA GO_REF:0000044 | KEEP AS NON CORE | Reason: The minor wild-type cytoplasmic pool in HeLa is peripheral to nuclear transcriptional activity. |
| GO:0005737 cytoplasm | IMP PMID:31412107 Agenesis of the putamen and globus pallidus caused by recess... | KEEP AS NON CORE | Reason: A smaller wild-type cytoplasmic pool was observed alongside predominant nuclear localization in HeLa cells. Retain the positive observation as non-core; it does not establish a separate cytoplasmic function. Supporting Evidence: |
| GO:0006355 regulation of DNA-templated transcription | IEA GO_REF:0000002 | TOO GENERAL | Reason: Retained regulation of transcription by RNA polymerase II is an is_a descendant of this broader process. Supporting Evidence: GO_REF:0000002 file:human/GSX2/GSX2-source-evidence.json |
| GO:0006357 regulation of transcription by RNA polymerase II | IEA GO_REF:0000108 | ACCEPT | Reason: Pol-II regulation includes human repression and mouse context-dependent activation; retain the parent. |
| GO:0021772 olfactory bulb development | IEA GO_REF:0000107 | KEEP AS NON CORE | Reason: Mouse Gsx2 loss impairs septum-derived olfactory interneuron production. Retain the conserved developmental role, distinct from the core transcriptional activity. Supporting Evidence: GO_REF:0000107 UniProt:Q9BZM3 including olfactory bulb interneurons |
| GO:0048699 generation of neurons | IEA GO_REF:0000107 | KEEP AS NON CORE | Reason: Retain the curated developmental output as non-core. GO:0021872 is a descendant, but the inspected mouse evidence permits indirect progenitor effects and does not resolve that narrower involved_in assertion. Supporting Evidence: GO_REF:0000107 file:human/GSX2/GSX2-source-evidence.json UniProt:Q9BZM3 derivatives, the striatal projection neurons. |
| GO:1990837 sequence-specific double-stranded DNA binding | IBA GO_REF:0000033 | ACCEPT | Reason: The inherited sequence-specific DNA-binding function has exact target ancestry and experimentally grounded human self-donor support. |
| GO:1990837 sequence-specific double-stranded DNA binding | IDA PMID:28473536 Impact of cytosine methylation on DNA binding specificities ... | ACCEPT | Reason: Retain the curated human sequence-specific DNA-binding assay. JASPAR MA0893.2 independently identifies human Q9BZM3 HT-SELEX data from this study; exact supplementary construct details remain unverified. Supporting Evidence: file:human/GSX2/GSX2-source-evidence.json UniProt:Q9BZM3 binds 5'-CNAATTAG-3' DNA sequence |
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All three IBDs occur at AN0/PTN002934155, ancestral to the exact human sequence. The retained human experimental annotations legitimately ground its self-donor; no family loss record was found in this snapshot.
The donor study uses mouse conditional genetics and lineage markers. Septal Gsx2 loss reduces proliferative SVZ progenitors and olfactory interneurons; the authors discuss indirect effects on basal progenitor proliferation. This is conserved developmental evidence, not a direct human assay.
The official mouse P31316 record cross-references ENSMUSP00000036625; both literal donor identifiers refer to Gsx2. Human and mouse products remain distinct.
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