Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57619
Gene name Gene Name - the full gene name approved by the HGNC.
Shroom family member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SHROOM3
Synonyms (NCBI Gene) Gene synonyms aliases
APXL3, MSTP013, SHRM, ShrmL
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [provided by Ref
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019043 hsa-miR-335-5p Microarray 18185580
MIRT719029 hsa-miR-646 HITS-CLIP 19536157
MIRT719028 hsa-miR-4530 HITS-CLIP 19536157
MIRT719027 hsa-miR-338-3p HITS-CLIP 19536157
MIRT719026 hsa-miR-766-3p HITS-CLIP 19536157
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 ISS
GO:0003779 Function Actin binding IEA
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005856 Component Cytoskeleton ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604570 30422 ENSG00000138771
Protein
UniProt ID Q8TF72
Protein name Protein Shroom3 (Shroom-related protein) (hShrmL)
Protein function Controls cell shape changes in the neuroepithelium during neural tube closure. Induces apical constriction in epithelial cells by promoting the apical accumulation of F-actin and myosin II, and probably by bundling stress fibers (By similarity).
PDB 6FBB , 6FCP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 28 107 PDZ domain Domain
PF08688 ASD1 884 1066 Apx/Shroom domain ASD1 Family
PF08687 ASD2 1670 1956 Apx/Shroom domain ASD2 Family
Sequence
MMRTTEDFHKPSATLNSNTATKGRYIYLEAFLEGGAPWGFTLKGGLEHGEPLIISKVEEG
GKADTLSSKLQAGDEVVHINEVTLSSSRKEAVSLVKGSYKTLRLVVR
RDVCTDPGHADTG
ASNFVSPEHLTSGPQHRKAAWSGGVKLRLKHRRSEPAGRPHSWHTTKSGEKQPDASMMQI
SQGMIGPPWHQSYHSSSSTSDLSNYDHAYLRRSPDQCSSQGSMESLEPSGAYPPCHLSPA
KSTGSIDQLSHFHNKRDSAYSSFSTSSSILEYPHPGISGRERSGSMDNTSARGGLLEGMR
QADIRYVKTVYDTRRGVSAEYEVNSSALLLQGREARASANGQGYDKWSNIPRGKGVPPPS
WSQQCPSSLETATDNLPPKVGAPLPPARSDSYAAFRHRERPSSWSSLDQKRLCRPQANSL
GSLKSPFIEEQLHTVLEKSPENSPPVKPKHNYTQKAQPGQPLLPTSIYPVPSLEPHFAQV
PQPSVSSNGMLYPALAKESGYIAPQGACNKMATIDENGNQNGSGRPGFAFCQPLEHDLLS
PVEKKPEATAKYVPSKVHFCSVPENEEDASLKRHLTPPQGNSPHSNERKSTHSNKPSSHP
HSLKCPQAQAWQAGEDKRSSRLSEPWEGDFQEDHNANLWRRLEREGLGQSLSGNFGKTKS
AFSSLQNIPESLRRHSSLELGRGTQEGYPGGRPTCAVNTKAEDPGRKAAPDLGSHLDRQV
SYPRPEGRTGASASFNSTDPSPEEPPAPSHPHTSSLGRRGPGPGSASALQGFQYGKPHCS
VLEKVSKFEQREQGSQRPSVGGSGFGHNYRPHRTVSTSSTSGNDFEETKAHIRFSESAEP
LGNGEQHFKNGELKLEEASRQPCGQQLSGGASDSGRGPQRPDARLLRSQSTFQLSSEPER
EPEWRDRPGSPESPLLDAPFSRAYRNSIKDAQSRVLGATSFRRRDLELGAPVASRSWRPR
PSSAHVGLRSPEASASASPHTPRERHSVTPAEGDLARPVPPAARRGARRRLTPEQKKRSY
SEPEKMNEVGIVEEAEPAPLGPQRNGMRFPESSVADRRRLFERDGK
ACSTLSLSGPELKQ
FQQSALADYIQRKTGKRPTSAAGCSLQEPGPLRERAQSAYLQPGPAALEGSGLASASSLS
SLREPSLQPRREATLLPATVAETQQAPRDRSSSFAGGRRLGERRRGDLLSGANGGTRGTQ
RGDETPREPSSWGARAGKSMSAEDLLERSDVLAGPVHVRSRSSPATADKRQDVLLGQDSG
FGLVKDPCYLAGPGSRSLSCSERGQEEMLPLFHHLTPRWGGSGCKAIGDSSVPSECPGTL
DHQRQASRTPCPRPPLAGTQGLVTDTRAAPLTPIGTPLPSAIPSGYCSQDGQTGRQPLPP
YTPAMMHRSNGHTLTQPPGPRGCEGDGPEHGVEEGTRKRVSLPQWPPPSRAKWAHAARED
SLPEESSAPDFANLKHYQKQQSLPSLCSTSDPDTPLGAPSTPGRISLRISESVLRDSPPP
HEDYEDEVFVRDPHPKATSSPTFEPLPPPPPPPPSQETPVYSMDDFPPPPPHTVCEAQLD
SEDPEGPRPSFNKLSKVTIARERHMPGAAHVVGSQTLASRLQTSIKGSEAESTPPSFMSV
HAQLAGSLGGQPAPIQTQSLSHDPVSGTQGLEKKVSPDPQKSSEDIRTEALAKEIVHQDK
SLADILDPDSRLKTTMDLMEGLFPRDVNLLKENSVKRKAIQRTVSSSGCEGKRNEDKEAV
SMLVNCPAYYSVSAPKAELLNKIKEMPAEVNEEEEQADVNEKKAELIGSLTHKLETLQEA
KGSLLTDIKLNNALGEEVEALISELCKPNEFDKYRMFIGDLDKVVNLLLSLSGRLARVEN
VLSGLGEDASNEERSSLYEKRKILAGQHEDARELKENLDRRERVVLGILANYLSEEQLQD
YQHFVKMKSTLLIEQRKLDDKIKLGQEQVKCLLESL
PSDFIPKAGALALPPNLTSEPIPA
GGCTFSGIFPTLTSPL
Sequence length 1996
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Cholelithiasis Cholelithiasis N/A N/A GWAS
Cleft Lip With Or Without Cleft Palate Cleft lip with or without cleft palate N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Albuminuria Associate 22492995
Alzheimer Disease Associate 40430038
Amyotrophic Lateral Sclerosis Associate 19740415
Cleft Palate Associate 34242216
Diabetic Nephropathies Associate 30552240
Glioblastoma Associate 29363730
Hearing Loss Associate 29363730
Heterotaxy Syndrome Associate 21936905
Kidney Diseases Associate 26776194
Neuroblastoma Associate 36037157