protein
Protein TANC2
Gene
TANC2
Organism
Homo sapiens(9606)
Length
1990 aa
Mass
219,650 Da
TANC2 is a scaffolding protein of 1,990 amino acids that localizes to dendritic spines and functions as an immobile postsynaptic structure capable of recruiting KIF1A-driven dense core vesicles to these neuronal compartments (UniProt: Q9HCD6). This subcellular localization and vesicle recruitment function position TANC2 at the interface of synaptic transmission and neuronal signaling.
TANC2 is associated with intellectual developmental disorder with autistic features and language delay, with or without seizures (IDDALDS, MIM 618906), an autosomal dominant neurodevelopmental condition characterized by global developmental delay, intellectual disability, autism spectrum disorder features, and language impairment. Seizures occur in a subset of affected individuals.
TANC2 is classified as SFARI Category 2 (UniProt: Q9HCD6; SFARI Cat 2), indicating strong evidence for involvement in autism spectrum disorder risk and supporting its relevance to neurodevelopmental pathology through disruption of postsynaptic scaffolding and vesicular trafficking in dendritic spines.
Generated from the curated entity record below. May contain errors — verify against source links.
Proteomics Evidence · AD
↓ Down in ADP3
-0.513
P2
not detected
S2
not detected
S3
not detected
Mean log₂FC across detected fractions: -0.5125 (1 of 4 fractions detected)
Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.
Genetic Evidence · ASD
Strong candidate — functional studies support ASD association
Source: SFARI Gene database · gene.sfari.org
This protein is implicated in both ASD and Alzheimer's Disease. View all cross-disease proteins →
Related Publications
Browse all →Tau molecular diversity contributes to clinical heterogeneity in Alzheimer's disease.
Dujardin Simon et al.Nature medicine2020PMID 32572268Deep Multilayer Brain Proteomics Identifies Molecular Networks in Alzheimer's Disease Progression.
Bai Bing et al.Neuron2020PMID 31926610A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer's Disease.
Seyfried Nicholas T et al.Cell systems2017PMID 27989508Large-scale deep multi-layer analysis of Alzheimer's disease brain reveals strong proteomic disease-related changes not observed at the RNA level.
Johnson Erik C B et al.Nature neuroscience2022PMID 35115731Organization and regulation of gene transcription.
Cramer PatrickNature2019PMID 31462772Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
Scaffolding protein in the dendritic spines which acts as immobile postsynaptic posts able to recruit KIF1A-driven dense core vesicles to dendritic spines
Disease associations
Intellectual developmental disorder with autistic features and language delay, with or without seizuresIDDALDS
An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, varying degrees of intellectual disability, autism spectrum disorder, and delayed language. Some patients develop seizures.
Sources
Last updated 5/8/2026, 1:13:15 AM