Gene Gene information from NCBI Gene database.
Entrez ID 57477
Gene name Shroom family member 4
Gene symbol SHROOM4
Synonyms (NCBI Gene)
MRXSSDSSHAPshrm4
Chromosome X
Chromosome location Xp11.22
Summary 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
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs121434620 G>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs886041718 G>A Pathogenic Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
377
miRTarBase ID miRNA Experiments Reference
MIRT018002 hsa-miR-335-5p Microarray 18185580
MIRT712200 hsa-miR-1306-5p HITS-CLIP 19536157
MIRT712199 hsa-miR-6729-3p HITS-CLIP 19536157
MIRT712198 hsa-miR-5196-3p HITS-CLIP 19536157
MIRT712197 hsa-miR-6072 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IDA 16684770
GO:0001725 Component Stress fiber IEA
GO:0001725 Component Stress fiber ISS
GO:0003779 Function Actin binding IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300579 29215 ENSG00000158352
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF00595 PDZ 11 89 PDZ domain Domain
PF08687 ASD2 1212 1486 Apx/Shroom domain ASD2 Family
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
MENRPGSFQYVPVQLQGGAPWGFTLKGGLEHCEPLTVSKIEDGGKAALSQKMRTGDELVN
INGTPLYGSRQEALILIKGSFRILKLIVR
RRNAPVSRPHSWHVAKLLEGCPEAATTMHFP
SEAFSLSWHSGCNTSDVCVQWCPLSRHCSTEKSSSIGSMESLEQPGQATYESHLLPIDQN
MYPNQRDSAYSSFSASSNASDCALSLRPEEPASTDCIMQGPGPTKAPSGRPNVAETSGGS
RRTNGGHLTPSSQMSSRPQEGYQSGPAKAVRGPPQPPVRRDSLQASRAQLLNGEQRRASE
PVVPLPQKEKLSLEPVLPARNPNRFCCLSGHDQVTSEGHQNCEFSQPPESSQQGSEHLLM
QASTKAVGSPKACDRASSVDSNPLNEASAELAKASFGRPPHLIGPTGHRHSAPEQLLASH
LQHVHLDTRGSKGMELPPVQDGHQWTLSPLHSSHKGKKSPCPPTGGTHDQSSKERKTRQV
DDRSLVLGHQSQSSPPHGEADGHPSEKGFLDPNRTSRAASELANQQPSASGSLVQQATDC
SSTTKAASGTEAGEEGDSEPKECSRMGGRRSGGTRGRSIQNRRKSERFATNLRNEIQRRK
AQLQKSKGPLSQLCDTKEPVEETQEPPESPPLTASNTSLLSSCKKPPSPRDKLFNKSMML
RARSSECLSQAPESHESRTGLEGRISPGQRPGQSSLGLNTWWKAPDPSSSDPEKAHAHCG
VRGGHWRWSPEHNSQPLVAAAMEGPSNPGDNKELKASTAQAGEDAILLPFADRRKFFEES
SKSLSTSHLPGLTTHSNKTFTQRPKPIDQNFQPMSSSCRELRRHPMDQSYHSADQPYHAT
DQSYHSMSPLQSETPTYSECFASKGLENSMCCKPLHCGDFDYHRTCSYSCSVQGALVHDP
CIYCSGEICPALLKRNMMPNCYNCRCHHHQCIRCSVCYHNPQHSALEDSSLAPGNTWKPR
KLTVQEFPGDKWNPITGNRKTSQSGREMAHSKTSFSWATPFHPCLENPALDLSSYRAISS
LDLLGDFKHALKKSEETSVYEEGSSLASMPHPLRSRAFSESHISLAPQSTRAWGQHRREL
FSKGDETQSDLLGARKKAFPPPRPPPPNWEKYRLFRAAQQQKQQQQQQKQQEEEEEEEEE
EEEEEEEEEEEAEEEEEELPPQYFSSETSGSCALNPEEVLEQPQPLSFGHLEGSRQGSQS
VPAEQESFALHSSDFLPPIRGHLGSQPEQAQPPCYYGIGGLWRTSGQEATESAKQEFQHF
SPPSGAPGIPTSYSAYYNISVAKAELLNKLKDQPEMAEIGLGEEEVDHELAQKKIQLIES
ISRKLSVLREAQRGLLEDINANSALGEEVEANLKAVCKSNEFEKYHLFVGDLDKVVNLLL
SLSGRLARVENALNSIDSEANQEKLVLIEKKQQLTGQLADAKELKEHVDRREKLVFGMVS
RYLPQDQLQDYQHFVKMKSALIIEQRELEEKIKLGEEQLKCLRESL
LLGPSNF
Sequence length 1493
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
X-linked intellectual disability, Stocco dos Santos type Likely pathogenic rs2147209054 RCV001779386
★★★★☆
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
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF KIDNEY AND URINARY TRACT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder Likely benign; Benign; Uncertain significance ClinVar
★★☆☆☆
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
B-Cell Lymphomas B-Cell Lymphoma BEFREE 31654185
★☆☆☆☆
Found in Text Mining only
Bilateral congenital dislocation of hip Congenital Hip dislocation HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37652516 Associate
★☆☆☆☆
Found in Text Mining only
Cataract Cataract HPO_DG
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognitive disorder BEFREE 25167861, 28262662
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognition disorder Pubtator 25167861 Associate
★☆☆☆☆
Found in Text Mining only
Colitis Colitis BEFREE 28161704
★☆☆☆☆
Found in Text Mining only
Congenital clubfoot Congenital Clubfoot HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital Epicanthus Congenital Epicanthus HPO_DG
★☆☆☆☆
Found in Text Mining only
Dent Disease Dent disease Pubtator 30630535 Associate
★☆☆☆☆
Found in Text Mining only