Gene Gene information from NCBI Gene database.
Entrez ID 134549
Gene name Shroom family member 1
Gene symbol SHROOM1
Synonyms (NCBI Gene)
APXL2
Chromosome 5
Chromosome location 5q31.1
Summary 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]
miRNA miRNA information provided by mirtarbase database.
226
miRTarBase ID miRNA Experiments Reference
MIRT625712 hsa-miR-8485 HITS-CLIP 23824327
MIRT625711 hsa-miR-603 HITS-CLIP 23824327
MIRT625710 hsa-miR-425-5p HITS-CLIP 23824327
MIRT625709 hsa-miR-216b-3p HITS-CLIP 23824327
MIRT625708 hsa-miR-1245b-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IBA
GO:0000902 Process Cell morphogenesis IEA
GO:0000902 Process Cell morphogenesis ISS 16684770
GO:0003779 Function Actin binding IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611179 24084 ENSG00000164403
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q2M3G4
Protein name Protein Shroom1 (Apical protein 2)
Protein function May be involved in the assembly of microtubule arrays during cell elongation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08688 ASD1 117 251 Apx/Shroom domain ASD1 Family
PF08687 ASD2 544 824 Apx/Shroom domain ASD2 Family
Sequence
MEALGPGGDRASPASSTSSLDLWHLSMRADSAYSSFSAASGGPEPRTQSPGTDLLPYLDW
DYVRVVWGGPGPAPPDAALCTSPRPRPAVAARSGPQPTEVPGTPGPLNRQATPLLYALAA
EAEAAAQAAEPPSPPASRAAYRQRLQGAQRRVLRETSFQRKELRMSLPARLRPTVPARPP
ATHPRSASLSHPGGEGEPARSRAPAPGTAGRGPLANQQRKWCFSEPGKLDRVGRGGGPAR
ECLGEACSSSG
LPGPEPLEFQHPALAKFEDHEVGWLPETQPQGSMNLDSGSLKLGDAFRP
ASRSRSASGEVLGSWGGSGGTIPIVQAVPQGAETPRPLFQTKLSRFLPQKEAAVMYPAEL
PQSSPADSEQRVSETCIVPAWLPSLPDEVFLEEAPLVRMRSPPDPHASQGPPASVHASDQ
PYGTGLGQRTGQVTVPTEYPLHECPGTAGADDCWQGVNGSVGISRPTSHTPTGTANDNIP
TIDPTGLTTNPPTAAESDLLKPVPADALGLSGNDTPGPSHNTALARGTGQPGSRPTWPSQ
CLEELVQELARLDPSLCDPLASQPSPEPPLGLLDGLIPLAEVRAAMRPACGEAGEEAAST
FEPGSYQFSFTQLLPAPREETRLENPATHPVLDQPCGQGLPAPNNSIQGKKVELAARLQK
MLQDLHTEQERLQGEAQAWARRQAALEAAVRQACAPQELERFSRFMADLERVLGLLLLLG
SRLARVRRALARAASDSDPDEQASLLQRLRLLQRQEEDAKELKEHVARRERAVREVLVRA
LPVEELRVYCALLAGKAAVLAQQRNLDERIRLLQDQLDAIRDDL
GHHAPSPSPARPPGTC
PPVQPPFPLLLT
Sequence length 852
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SHROOM1-related disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Degenerative polyarthritis Arthritis BEFREE 26484395
★☆☆☆☆
Found in Text Mining only
Neural Tube Defects Neural Tube Defect BEFREE 29423651
★☆☆☆☆
Found in Text Mining only