Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
357
Gene name Gene Name - the full gene name approved by the HGNC.
Shroom family member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SHROOM2
Synonyms (NCBI Gene) Gene synonyms aliases
APXL, HSAPXL
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ISS
GO:0005515 Function Protein binding IPI 17474147
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300103 630 ENSG00000146950
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Colonic neoplasms Malignant tumor of colon rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 31089142
Colorectal cancer Colorectal Carcinoma, Adenocarcinoma of large intestine rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
31089142
Colorectal neoplasms Colorectal Neoplasms, Malignant neoplasm of large intestine rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63750955, rs587776706, rs63750871, rs587776715, rs63751466, rs63750049
View all (1682 more)
31089142
Unknown
Disease term Disease name Evidence References Source
Colorectal Cancer Colorectal Cancer In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 22245343
Colorectal Neoplasms Associate 24760461
Neural Tube Defects Associate 29423651
Root Resorption Associate 38546524