GO annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping
GO annotation based on curation of immunofluorescence data (HPA)
A proteome-scale map of the human interactome network.
A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.
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Foundational paper defining the NAALADL2 gene (1.37 Mb, at least 32 exons, extensive alternative splicing) at a CdLS-associated 3q26.3 translocation breakpoint; no CdLS patient-specific mutations were found.
"Mutation screening of NAALADL2 in a panel of CdLS patient DNA samples failed to identify patient-specific mutations"
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The predicted protein is homologous to NAALADase/GCPII-type M28 peptidases and transferrin receptors; homology is low (25-27% identity) and no enzymatic activity was demonstrated.
"Outside the N-terminal regions, the predicted proteins showed significant homology to N-acetylated alpha-linked acidic dipeptidase and transferrin receptors"
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Expression is strongest in kidney and placenta, with embryonic expression confined to duodenal and stomach endoderm, mesonephros, metanephros and pancreas.
"strongest expression in kidney and placenta; embryonic expression was largely confined to duodenal and stomach endoderm, mesonephros, metanephros and pancreas"
UniProt entry Q58DX5 (NAALADL2)
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NAALADL2 is related to the M28 peptidase family but lacks zinc-binding/active sites and may be catalytically inactive.
"May be catalytically inactive"
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UniProt's explicit CAUTION states the loss of the conserved catalytic machinery relative to active M28 peptidases.
"conserved zinc-binding and active sites and therefore has probably lost"
Falcon deep research report for NAALADL2
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Falcon synthesis concurs that NAALADL2 is annotated as enzymatically inactive, with no confirmed catalytic reaction or physiological substrate, and frames its family relationship as structure-related homology without validated enzyme activity.
"the prevailing interpretation is **structure-related homology without validated enzyme activity**"
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Falcon frames the reported cancer associations (prostate, breast, GWAS traits) as associative, not mechanistic, supporting tumor-aggressiveness relevance more than any defined catalytic role.
"more strongly than it supports a defined catalytic role"