SH3PXD2B
SH3 and PX domains 2B | FLJ20831, KIAA1295

This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Member of: DE-8 DE-8.17 Developmental clusters: GC2
Biological processes 43 terms
SH2 domain binding (GO:0042169)SH2 domain binding (GO:0042169)adipose tissue development (GO:0060612)adipose tissue development (GO:0060612)bone development (GO:0060348)bone development (GO:0060348)cranial skeletal system development (GO:1904888)cytoplasm (GO:0005737)cytoplasm (GO:0005737)cytoplasm (GO:0005737)extracellular matrix disassembly (GO:0022617)eye development (GO:0001654)eye development (GO:0001654)heart development (GO:0007507)heart development (GO:0007507)osteoblast fate commitment (GO:0002051)phosphatidylinositol binding (GO:0035091)phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)phosphatidylinositol-3-phosphate binding (GO:0032266)phosphatidylinositol-3-phosphate binding (GO:0032266)phosphatidylinositol-4-phosphate binding (GO:0070273)phosphatidylinositol-5-phosphate binding (GO:0010314)phosphatidylinositol-5-phosphate binding (GO:0010314)podosome (GO:0002102)podosome (GO:0002102)podosome assembly (GO:0071800)podosome assembly (GO:0071800)positive regulation of adipose tissue development (GO:1904179)positive regulation of fat cell differentiation (GO:0045600)positive regulation of gene expression (GO:0010628)positive regulation of multicellular organism growth (GO:0040018)positive regulation of stress fiber assembly (GO:0051496)protein binding (GO:0005515)protein localization to membrane (GO:0072657)regulation of brood size (GO:0060378)skeletal system development (GO:0001501)skeletal system development (GO:0001501)skeletal system morphogenesis (GO:0048705)superoxide anion generation (GO:0042554)superoxide metabolic process (GO:0006801)superoxide metabolic process (GO:0006801)superoxide-generating NADPH oxidase activator activity (GO:0016176)
Expression (TPM)
SH3PXD2B — as a Regulated Gene

TFs regulating SH3PXD2B 0 TFs

Transcription factors with Perturb-seq knockdown data for SH3PXD2B. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = SH3PXD2B upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to SH3PXD2B

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of SH3PXD2B, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Accessibility Element Dist. to TSS Link type TFs
chr5:172,187,117–172,188,967 266.1 kb Distal (>10kb) Multiome 988
chr5:172,282,945–172,284,922 170.5 kb Distal (>10kb) Multiome 857
chr5:172,453,197–172,453,607 1.3 kb Proximal (<10kb) Multiome 249
chr5:172,453,730–172,456,312 58 bp At TSS Multiome 677
chr5:172,478,999–172,479,594 24.7 kb Distal (>10kb) Multiome 365
chr5:172,640,809–172,642,014 186.7 kb Distal (>10kb) Multiome HiCAR 468
chr5:172,683,287–172,684,318 229.5 kb Distal (>10kb) Multiome HiCAR 215
chr5:172,697,353–172,697,964 243.1 kb Distal (>10kb) Multiome HiCAR 445
chr5:172,700,111–172,700,934 246.0 kb Distal (>10kb) Multiome HiCAR 131

Genome Browser

Genomic view of the SH3PXD2B locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.

chr5:172,177,117 – 172,710,934
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq