| 1605292 | SHROOM1 | shroom family member 1 | SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM, Mar 2008] | 5 | 132822141 | 132830647 | Human | 85 | symbol , COSMIC , name , description , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 1343092 | SHROOM2 | shroom family member 2 | This gene represents the human homolog of Xenopus laevis apical protein (APX) gene, which is implicated in amiloride-sensitive sodium channel activity. It is expressed in endothelial cells and facilitates the formation of a contractile network within endothelial cells. Depletion of this gene results in an increase in endothelial sprouting, migration, and angiogenesis. This gene is highly expressed in the retina, and is a strong candidate for ocular albinism type 1 syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016] | X | 9786429 | 9949443 | Human | 131 | symbol , COSMIC , name , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1602873 | SHROOM3 | shroom family member 3 | This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [provided by RefSeq, Ja n 2011] | 4 | 76435229 | 76783253 | Human | 128 | symbol , old_gene_name , COSMIC , name , description , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1606521 | SHROOM4 | shroom family member 4 | This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to the X-linked Stocco dos Santos s yndrome characterized by cognitive disabilities. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2017] | X | 50575534 | 50814194 | Human | 113 | symbol , COSMIC , name , description , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1351345 | SHROOM2P1 | shroom family member 2 pseudogene 1 | | Y | 12541058 | 12543220 | Human | | symbol , COSMIC , name , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |
| 21410054 | SHROOM3-AS1 | SHROOM3 antisense RNA 1 | | 4 | 76709906 | 76802463 | Human | | symbol , GTEx , COSMIC , name , Human Proteome Map | gene, ncrna, VALIDATED [RefSeq] |
| 629021598 | SHROOM3-AS2 | SHROOM3 antisense RNA 2 | | | | | Human | | symbol , GTEx , COSMIC , name , Human Proteome Map | gene, ncrna |
| 1315266 | EXOSC2 | exosome component 2 | Predicted to enable RNA binding activity. Involved in RNA catabolic process; RNA processing; and positive regulation of cell growth. Located in cytosol; nucleolus; and nucleoplasm. Part of nuclear exosome (RNase complex). Implicated in short stature, hearing loss, retinitis pigmentosa, and distincti ve facies. [provided by Alliance of Genome Resources, Jul 2025] | 9 | 130693760 | 130704894 | Human | 214 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1603390 | AJAP1 | adherens junctions associated protein 1 | Enables beta-catenin binding activity. Involved in negative regulation of cell-matrix adhesion; negative regulation of wound healing; and regulation of polarized epithelial cell differentiation. Located in several cellular components, including adherens junction; basolateral plasma membrane; and cel l-cell contact zone. [provided by Alliance of Genome Resources, Jul 2025] | 1 | 4654609 | 4792534 | Human | 86 | old_gene_name , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1606338 | DFFA | DNA fragmentation factor subunit alpha | Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | 1 | 10456522 | 10472529 | Human | 167 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 731033 | DFFB | DNA fragmentation factor subunit beta | Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some of these variants has not been determined. [provided by RefSeq, Sep 2013] | 1 | 3857476 | 3885429 | Human | 161 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1604485 | IZUMO1 | izumo sperm-oocyte fusion 1 | The sperm-specific protein Izumo, named for a Japanese shrine dedicated to marriage, is essential for sperm-egg plasma membrane binding and fusion (Inoue et al., 2005 [PubMed 15759005]).[supplied by OMIM, Mar 2008] | 19 | 48740852 | 48746909 | Human | 63 | description | gene, protein-coding, VALIDATED [RefSeq] |
