SHROOM4 (shroom family member 4)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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57477 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Shroom family member 4 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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SHROOM4 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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MRXSSDS, SHAP, shrm4 |
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Chromosome
Chromosome number
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X |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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Xp11.22 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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 S |
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SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | ||||||||||||||||
| UniProt ID | Q9ULL8 | |||||||||||||||
| Protein name | Protein Shroom4 (Second homolog of apical protein) | |||||||||||||||
| Protein function | Probable regulator of cytoskeletal architecture that plays an important role in development. May regulate cellular and cytoskeletal architecture by modulating the spatial distribution of myosin II (By similarity). {ECO:0000250, ECO:0000269|PubMe | |||||||||||||||
| PDB | 2EDP | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in all fetal and adult tissues investigated. Expressed in adult heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. In brain regions detected in cerebellum, cerebral cortex, medulla, spinal cord, occipi | |||||||||||||||
| Sequence |
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| Sequence length | 1493 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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