protein
PHD finger protein 12
Gene
PHF12
Organism
Homo sapiens(9606)
Length
1004 aa
Mass
109,698 Da
PHD finger protein 12 (PHF12) is a transcriptional repressor that functions as a key scaffolding subunit of SIN3 chromatin-remodeling complexes (UniProt: Q96QT6). It facilitates complex assembly by contacting core subunits, stabilizes the complex architecture, and recruits histone substrates—particularly the H3 histone tail. The protein recognizes H3K27ac marks and works with histone deacetylase HDAC2 to counteract histone acetylation and suppress transcription.
PHF12-containing SIN3B complexes regulate gene transcription by mitigating histone acetylation and RNA polymerase II progression within transcribed regions, and are recruited to constitutively active genes near transcriptional start sites. The protein may also function independently of SIN3A by recruiting TLE5 complexes to DNA for transcriptional repression, and may participate in ribosomal biogenesis (UniProt: Q96QT6).
PHF12 is classified as SFARI Category 1, indicating high-confidence evidence for association with autism spectrum disorder (SFARI Cat 1). However, specific mechanistic details linking PHF12 dysfunction to ASD pathogenesis are not provided in this dataset.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
High confidence — strong genetic evidence from multiple studies
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited 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
Transcriptional repressor acting as key scaffolding subunit of SIN3 complexes which contributes to complex assembly by contacting each core subunit domain, stabilizes the complex and constitutes the substrate receptor by recruiting the H3 histone tail (PubMed:37137925). SIN3 complexes are composed of a SIN3 scaffold subunit, one catalytic core (HDAC1 or HDAC2) and 2 chromatin targeting modules (PubMed:11390640, PubMed:37137925). SIN3B complex represses transcription and counteracts the histone acetyltransferase activity of EP300 through the recognition H3K27ac marks by PHF12 and the activity of the histone deacetylase HDAC2 (PubMed:37137925). SIN3B complex is recruited downstream of the constitutively active genes transcriptional start sites through interaction with histones and mitigates histone acetylation and RNA polymerase II progression within transcribed regions contributing to the regulation of transcription (PubMed:21041482). May also repress transcription in a SIN3A-independent manner through recruitment of functional TLE5 complexes to DNA (PubMed:11390640). May also play a role in ribosomal biogenesis (By similarity)
Sources
Last updated 5/6/2026, 5:25:27 AM