Gene Gene information from NCBI Gene database.
Entrez ID 357
Gene name Shroom family member 2
Gene symbol SHROOM2
Synonyms (NCBI Gene)
APXLHSAPXL
Chromosome X
Chromosome location Xp22.2
Summary 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 endo
miRNA miRNA information provided by mirtarbase database.
210
miRTarBase ID miRNA Experiments Reference
MIRT038423 hsa-miR-296-3p CLASH 23622248
MIRT496267 hsa-miR-1910-3p PAR-CLIP 22291592
MIRT496266 hsa-miR-6511a-5p PAR-CLIP 22291592
MIRT496265 hsa-miR-6808-5p PAR-CLIP 22291592
MIRT496264 hsa-miR-6893-5p PAR-CLIP 22291592
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IDA 16684770
GO:0000902 Process Cell morphogenesis ISS 16684770
GO:0002089 Process Lens morphogenesis in camera-type eye ISS
GO:0003779 Function Actin binding IEA
GO:0003779 Function Actin binding ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300103 630 ENSG00000146950
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13796
Protein name Protein Shroom2 (Apical-like protein) (Protein APXL)
Protein function May be involved in endothelial cell morphology changes during cell spreading. In the retinal pigment epithelium, may regulate the biogenesis of melanosomes and promote their association with the apical cell surface by inducing gamma-tubulin redi
PDB 5F4Y , 5F5P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 26 105 PDZ domain Domain
PF08688 ASD1 640 806 Apx/Shroom domain ASD1 Family
PF08687 ASD2 1318 1610 Apx/Shroom domain ASD2 Family
Tissue specificity TISSUE SPECIFICITY: Abundant in retina and melanoma; also in brain, placenta, lung, kidney and pancreas.
Sequence
MEGAEPRARPERLAEAETRAADGGRLVEVQLSGGAPWGFTLKGGREHGEPLVITKIEEGS
KAAAVDKLLAGDEIVGINDIGLSGFRQEAICLVKGSHKTLKLVVK
RRSELGWRPHSWHAT
KFSDSHPELAASPFTSTSGCPSWSGRHHASSSSHDLSSSWEQTNLQRTLDHFSSLGSVDS
LDHPSSRLSVAKSNSSIDHLGSHSKRDSAYGSFSTSSSTPDHTLSKADTSSAENILYTVG
LWEAPRQGGRQAQAAGDPQGSEEKLSCFPPRVPGDSGKGPRPEYNAEPKLAAPGRSNFGP
VWYVPDKKKAPSSPPPPPPPLRSDSFAATKSHEKAQGPVFSEAAAAQHFTALAQAQPRGD
RRPELTDRPWRSAHPGSLGKGSGGPGCPQEAHADGSWPPSKDGASSRLQASLSSSDVRFP
QSPHSGRHPPLYSDHSPLCADSLGQEPGAASFQNDSPPQVRGLSSCDQKLGSGWQGPRPC
VQGDLQAAQLWAGCWPSDTALGALESLPPPTVGQSPRHHLPQPEGPPDARETGRCYPLDK
GAEGCSAGAQEPPRASRAEKASQRLAASITWADGESSRICPQETPLLHSLTQEGKRRPES
SPEDSATRPPPFDAHVGKPTRRSDRFATTLRNEIQMHRAKLQKSRSTVALTAAGEAEDGT
GRWRAGLGGGTQEGPLAGTYKDHLKEAQARVLRATSFKRRDLDPNPGDLYPESLEHRMGD
PDTVPHFWEAGLAQPPSSTSGGPHPPRIGGRRRFTAEQKLKSYSEPEKMNEVGLTRGYSP
HQHPRTSEDTVGTFADRWKFFEETSK
PVPQRPAQKQALHGIPRDKPERPRTAGRTCEGTE
PWSRTTSLGDSLNAHSAAEKAGTSDLPRRLGTFAEYQASWKEQRKPLEARSSGRCHSADD
ILDVSLDPQERPQHVHGRSRSSPSTDHYKQEASVELRRQAGDPGEPREELPSAVRAEEGQ
STPRQADAQCREGSPGSQQHPPSQKAPNPPTFSELSHCRGAPELPREGRGRAGTLPRDYR
YSEESTPADLGPRAQSPGSPLHARGQDSWPVSSALLSKRPAPQRPPPPKREPRRYRATDG
APADAPVGVLGRPFPTPSPASLDVYVARLSLSHSPSVFSSAQPQDTPKATVCERGSQHVS
GDASRPLPEALLPPKQQHLRLQTATMETSRSPSPQFAPQKLTDKPPLLIQDEDSTRIERV
MDNNTTVKMVPIKIVHSESQPEKESRQSLACPAEPPALPHGLEKDQIKTLSTSEQFYSRF
CLYTRQGAEPEAPHRAQPAEPQPLGTQVPPEKDRCTSPPGLSYMKAKEKTVEDLKSEELA
REIVGKDKSLADILDPSVKIKTTMDLMEGIFPKDEHLLEEAQQRRKLLPKIPSPRSTEER
KEEPSVPAAVSLATNSTYYSTSAPKAELLIKMKDLQEQQEHEEDSGSDLDHDLSVKKQEL
IESISRKLQVLREARESLLEDVQANTVLGAEVEAIVKGVCKPSEFDKFRMFIGDLDKVVN
LLLSLSGRLARVENALNNLDDGASPGDRQSLLEKQRVLIQQHEDAKELKENLDRRERIVF
DILANYLSEESLADYEHFVKMKSALIIEQRELEDKIHLGEEQLKCLLDSL
QPERGK
Sequence length 1616
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
Meniere disease Likely pathogenic rs138558321 RCV001797192
★★★★☆
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
Clear cell carcinoma of kidney Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA 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
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 31089142
★☆☆☆☆
Found in Text Mining only
Albinism, Ocular Ocular albinism BEFREE 24478262
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 22245343 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 22634755
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer GWASCAT_DG 31089142
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 24760461 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms GWASCAT_DG 31089142
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of large intestine Colorectal Neoplasms GWASCAT_DG 31089142
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer GWASDB_DG 23535732
★☆☆☆☆
Found in Text Mining only