Catenin beta-1

Mean log₂FC across detected fractions: -0.8863 (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.

High confidence — strong genetic evidence from multiple studies

Source: SFARI Gene database · gene.sfari.org

• Tau molecular diversity contributes to clinical heterogeneity in Alzheimer's disease.

  Dujardin Simon et al.Nature medicine2020PMID 32572268

• Deep Multilayer Brain Proteomics Identifies Molecular Networks in Alzheimer's Disease Progression.

  Bai Bing et al.Neuron2020PMID 31926610

• A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer's Disease.

  Seyfried Nicholas T et al.Cell systems2017PMID 27989508

• Large-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 35115731

• Organization and regulation of gene transcription.

  Cramer PatrickNature2019PMID 31462772

• Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.

  Ruzzo Elizabeth K et al.Cell2019PMID 31398340

• Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.

  Guo Hui et al.Molecular autism2018PMID 30564305

• Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

  C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302

• Identification of common genetic risk variants for autism spectrum disorder.

  Grove Jakob et al.Nature genetics2019PMID 30804558

• Synaptic, transcriptional and chromatin genes disrupted in autism.

  De Rubeis Silvia et al.Nature2014PMID 25363760

Function

Disease associations

• Colorectal cancerCRC

  A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.

• PilomatrixomaPTR

  Common benign skin tumor.

• MedulloblastomaMDB

  Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.

• Ovarian cancerOC

  The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease.

• Mesothelioma, malignantMESOM

  An aggressive neoplasm of the serosal lining of the chest. It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos.

• Neurodevelopmental disorder with spastic diplegia and visual defectsNEDSDV

  An autosomal dominant disorder characterized by global developmental delay, severe intellectual disability with absent or very limited speech, microcephaly, spasticity, and visual abnormalities.

• Vitreoretinopathy, exudative 7EVR7

  An autosomal dominant form of exudative vitreoretinopathy, a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery.

Sources

• uniprot: P35222

Last updated 5/8/2026, 1:05:00 AM