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Aliases for SHROOM3 Gene

Aliases for SHROOM3 Gene

  • Shroom Family Member 3 2 3 5
  • Shroom-Related Protein 3 4
  • ShrmL 3 4
  • F-Actin-Binding Protein 3
  • KIAA1481 4
  • MSTP013 3
  • HShrmL 4
  • APXL3 3
  • SHRM 3

External Ids for SHROOM3 Gene

Previous GeneCards Identifiers for SHROOM3 Gene

  • GC04P077575
  • GC04P077356
  • GC04P073108

Summaries for SHROOM3 Gene

Entrez Gene Summary for SHROOM3 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 RefSeq, Jan 2011]

GeneCards Summary for SHROOM3 Gene

SHROOM3 (Shroom Family Member 3) is a Protein Coding gene. Diseases associated with SHROOM3 include kuhnt-junius degeneration and neural tube defects. Among its related pathways are Tight junction. GO annotations related to this gene include actin binding and actin filament binding. An important paralog of this gene is SHROOM2.

UniProtKB/Swiss-Prot for SHROOM3 Gene

  • 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. Induces apicobasal cell elongation by redistributing gamma-tubulin and directing the assembly of robust apicobasal microtubule arrays (By similarity).

Gene Wiki entry for SHROOM3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SHROOM3 Gene

Genomics for SHROOM3 Gene

Regulatory Elements for SHROOM3 Gene

Promoters for SHROOM3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SHROOM3 on UCSC Golden Path with GeneCards custom track

Genomic Location for SHROOM3 Gene

Chromosome:
4
Start:
76,435,100 bp from pter
End:
76,783,253 bp from pter
Size:
348,154 bases
Orientation:
Plus strand

Genomic View for SHROOM3 Gene

Genes around SHROOM3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SHROOM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SHROOM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SHROOM3 Gene

Proteins for SHROOM3 Gene

  • Protein details for SHROOM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TF72-SHRM3_HUMAN
    Recommended name:
    Protein Shroom3
    Protein Accession:
    Q8TF72
    Secondary Accessions:
    • Q5QTQ3
    • Q6ZRW3
    • Q96IR9
    • Q9P247

    Protein attributes for SHROOM3 Gene

    Size:
    1996 amino acids
    Molecular mass:
    216857 Da
    Quaternary structure:
    • Interacts with F-actin.
    SequenceCaution:
    • Sequence=AAQ13515.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB84689.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SHROOM3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SHROOM3 Gene

Proteomics data for SHROOM3 Gene at MOPED

Post-translational modifications for SHROOM3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SHROOM3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SHROOM3 Gene

Domains & Families for SHROOM3 Gene

Gene Families for SHROOM3 Gene

Protein Domains for SHROOM3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SHROOM3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TF72

UniProtKB/Swiss-Prot:

SHRM3_HUMAN :
  • The ASD1 domain mediates F-actin binding.
  • Belongs to the shroom family.
Domain:
  • The ASD1 domain mediates F-actin binding.
  • The ASD2 domain is required for apical constriction induction.
  • Contains 1 ASD1 domain.
  • Contains 1 ASD2 domain.
  • Contains 1 PDZ (DHR) domain.
Family:
  • Belongs to the shroom family.
genes like me logo Genes that share domains with SHROOM3: view

Function for SHROOM3 Gene

Molecular function for SHROOM3 Gene

UniProtKB/Swiss-Prot 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. Induces apicobasal cell elongation by redistributing gamma-tubulin and directing the assembly of robust apicobasal microtubule arrays (By similarity).

Gene Ontology (GO) - Molecular Function for SHROOM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051015 actin filament binding IEA --
genes like me logo Genes that share ontologies with SHROOM3: view
genes like me logo Genes that share phenotypes with SHROOM3: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SHROOM3 Gene

Localization for SHROOM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SHROOM3 Gene

Cell junction, adherens junction. Cytoplasm, cytoskeleton. Note=Colocalizes with F-actin in stress fibers and adherens junctions. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SHROOM3 Gene COMPARTMENTS Subcellular localization image for SHROOM3 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
nucleus 4
plasma membrane 3

Gene Ontology (GO) - Cellular Components for SHROOM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005912 adherens junction ISS --
genes like me logo Genes that share ontologies with SHROOM3: view

Pathways & Interactions for SHROOM3 Gene

SuperPathways for SHROOM3 Gene

Superpath Contained pathways
1 Tight junction
genes like me logo Genes that share pathways with SHROOM3: view

Pathways by source for SHROOM3 Gene

1 KEGG pathway for SHROOM3 Gene

Gene Ontology (GO) - Biological Process for SHROOM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001843 neural tube closure IEA --
GO:0002064 epithelial cell development IEA --
GO:0008360 regulation of cell shape IEA --
GO:0045176 apical protein localization ISS --
genes like me logo Genes that share ontologies with SHROOM3: view

No data available for SIGNOR curated interactions for SHROOM3 Gene

Drugs & Compounds for SHROOM3 Gene

(2) Drugs for SHROOM3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for SHROOM3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SHROOM3: view

Transcripts for SHROOM3 Gene

Unigene Clusters for SHROOM3 Gene

Shroom family member 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SHROOM3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c · 14d ^ 15a · 15b ^ 16a · 16b · 16c ^
SP1: - - - - - - - - - - - - - -
SP2: -
SP3: - - - - - - - - - - - - - - - - -
SP4: - -
SP5: -
SP6: -
SP7:
SP8:
SP9: - -
SP10:
SP11:

ExUns: 17 ^ 18 ^ 19 ^ 20a · 20b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for SHROOM3 Gene

GeneLoc Exon Structure for
SHROOM3
ECgene alternative splicing isoforms for
SHROOM3

Expression for SHROOM3 Gene

mRNA expression in normal human tissues for SHROOM3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SHROOM3 Gene

This gene is overexpressed in Stomach (41.9), Lung (6.9), and Adrenal (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SHROOM3 Gene



SOURCE GeneReport for Unigene cluster for SHROOM3 Gene Hs.702168

genes like me logo Genes that share expression patterns with SHROOM3: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for SHROOM3 Gene

Orthologs for SHROOM3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SHROOM3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SHROOM3 36
  • 98 (a)
OneToOne
SHROOM3 35
  • 98.63 (n)
  • 98.05 (a)
cow
(Bos Taurus)
Mammalia SHROOM3 36
  • 74 (a)
OneToOne
SHROOM3 35
  • 81.04 (n)
  • 76.14 (a)
dog
(Canis familiaris)
Mammalia SHROOM3 35
  • 81.36 (n)
  • 73.28 (a)
SHROOM3 36
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Shroom3 16
Shroom3 35
  • 78.43 (n)
  • 73.44 (a)
Shroom3 36
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SHROOM3 36
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SHROOM3 36
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Shroom3 35
  • 77.92 (n)
  • 72.69 (a)
chicken
(Gallus gallus)
Aves SHROOM3 35
  • 60.73 (n)
  • 54.57 (a)
SHROOM3 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SHROOM3 36
  • 47 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.5622 35
tropical clawed frog
(Silurana tropicalis)
Amphibia shroom3 35
  • 50.3 (n)
  • 44.16 (a)
zebrafish
(Danio rerio)
Actinopterygii SHROOM3 36
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Shroom 36
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
ManyToMany
CSA.5284 36
  • 43 (a)
ManyToMany
Species with no ortholog for SHROOM3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SHROOM3 Gene

ENSEMBL:
Gene Tree for SHROOM3 (if available)
TreeFam:
Gene Tree for SHROOM3 (if available)

Paralogs for SHROOM3 Gene

Paralogs for SHROOM3 Gene

(1) SIMAP similar genes for SHROOM3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SHROOM3: view

Variants for SHROOM3 Gene

Sequence variations from dbSNP and Humsavar for SHROOM3 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs3821979 - 76,710,272(+) TAAAC(A/T)TCGGC reference, missense, utr-variant-5-prime
rs344140 - 76,739,009(+) CTCTG(C/G)CCGGG reference, missense
rs344141 - 76,739,578(+) TCTAC(A/C/G)CGGTA reference, missense
VAR_032065 -
rs237251 -- 76,724,438(-) AAAAA(A/G)TTAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SHROOM3 Gene

Variant ID Type Subtype PubMed ID
nsv7363 OTHER Inversion 18451855
dgv1647e1 CNV Complex 17122850
essv12957 CNV CNV 17122850
essv8045 CNV CNV 17122850
esv2664574 CNV Deletion 23128226
nsv292270 CNV Loss 16902084
esv275302 CNV Loss 21479260
esv2727846 CNV Deletion 23290073
esv2727847 CNV Deletion 23290073
nsv289572 CNV Insertion 16902084
nsv829972 CNV Loss 17160897
nsv829973 CNV Loss 17160897

Variation tolerance for SHROOM3 Gene

Residual Variation Intolerance Score: 93.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.26; 97.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SHROOM3 Gene

HapMap Linkage Disequilibrium report
SHROOM3
Human Gene Mutation Database (HGMD)
SHROOM3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SHROOM3 Gene

Disorders for SHROOM3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SHROOM3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
kuhnt-junius degeneration
  • exudative senile macular degeneration of retina
neural tube defects
  • spina bifida
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SHROOM3

Genetic Association Database (GAD)
SHROOM3
Human Genome Epidemiology (HuGE) Navigator
SHROOM3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SHROOM3
genes like me logo Genes that share disorders with SHROOM3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SHROOM3 Gene

Publications for SHROOM3 Gene

  1. A new standard nomenclature for proteins related to Apx and Shroom. (PMID: 16615870) Hagens O. … Wallingford J.B. (BMC Cell Biol. 2006) 2 3 4 67
  2. Shroom, a PDZ domain-containing actin-binding protein, is required for neural tube morphogenesis in mice. (PMID: 10589677) Hildebrand J.D. … Soriano P. (Cell 1999) 2 3
  3. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. (PMID: 25852190) So J. … Colwill K. (Sci Signal 2015) 3
  4. Loss-of-function de novo mutations play an important role in severe human neural tube defects. (PMID: 25805808) Lemay P. … Kibar Z. (J. Med. Genet. 2015) 3
  5. Intronic locus determines SHROOM3 expression and potentiates renal allograft fibrosis. (PMID: 25437874) Menon M.C. … Murphy B. (J. Clin. Invest. 2015) 3

Products for SHROOM3 Gene

Sources for SHROOM3 Gene

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