Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SHROOM2 Gene

Aliases for SHROOM2 Gene

  • Shroom Family Member 2 2 3 5
  • Apical-Like Protein 3 4
  • APXL 3 4
  • Apical Protein-Like (Xenopus Laevis) 2
  • Apical Protein, Xenopus Laevis-Like 2
  • APX Homolog Of Xenopus 3
  • Protein APXL 4
  • HSAPXL 3

External Ids for SHROOM2 Gene

Previous HGNC Symbols for SHROOM2 Gene

  • APXL

Previous GeneCards Identifiers for SHROOM2 Gene

  • GC0XP009714
  • GC0XP007649

Summaries for SHROOM2 Gene

Entrez Gene Summary for SHROOM2 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 endothelial cells. Depletion of this gene results in an increase in endothelial sprouting, migration, and angiogenesis. This gene is highly expressed in the retina, and is a strong candidate for ocular albinism type 1 syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]

GeneCards Summary for SHROOM2 Gene

SHROOM2 (Shroom Family Member 2) is a Protein Coding gene. Diseases associated with SHROOM2 include ocular albinism and albinism. 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 SHROOM1.

UniProtKB/Swiss-Prot for SHROOM2 Gene

  • 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 redistribution (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SHROOM2 Gene

Genomics for SHROOM2 Gene

Regulatory Elements for SHROOM2 Gene

Promoters for SHROOM2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SHROOM2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SHROOM2 Gene

Chromosome:
X
Start:
9,786,402 bp from pter
End:
9,949,443 bp from pter
Size:
163,042 bases
Orientation:
Plus strand

Genomic View for SHROOM2 Gene

Genes around SHROOM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SHROOM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SHROOM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SHROOM2 Gene

Proteins for SHROOM2 Gene

  • Protein details for SHROOM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13796-SHRM2_HUMAN
    Recommended name:
    Protein Shroom2
    Protein Accession:
    Q13796
    Secondary Accessions:
    • B9EIQ7

    Protein attributes for SHROOM2 Gene

    Size:
    1616 amino acids
    Molecular mass:
    176410 Da
    Quaternary structure:
    • Interacts with F-actin.

neXtProt entry for SHROOM2 Gene

Proteomics data for SHROOM2 Gene at MOPED

Post-translational modifications for SHROOM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SHROOM2 Gene

No data available for DME Specific Peptides for SHROOM2 Gene

Domains & Families for SHROOM2 Gene

Gene Families for SHROOM2 Gene

Protein Domains for SHROOM2 Gene

Suggested Antigen Peptide Sequences for SHROOM2 Gene

Graphical View of Domain Structure for InterPro Entry

Q13796

UniProtKB/Swiss-Prot:

SHRM2_HUMAN :
  • The ASD1 domain mediates F-actin binding.
  • Belongs to the shroom family.
Domain:
  • The ASD1 domain mediates F-actin binding.
  • 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 SHROOM2: view

Function for SHROOM2 Gene

Molecular function for SHROOM2 Gene

UniProtKB/Swiss-Prot 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 redistribution (By similarity).

Gene Ontology (GO) - Molecular Function for SHROOM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding ISS --
GO:0051015 actin filament binding IEA,ISS 16684770
genes like me logo Genes that share ontologies with SHROOM2: view
genes like me logo Genes that share phenotypes with SHROOM2: 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 SHROOM2 Gene

Localization for SHROOM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SHROOM2 Gene

Apical cell membrane. Cell junction, tight junction. Cytoplasm, cytoskeleton. Note=Associates with cortical F-actin. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SHROOM2 Gene COMPARTMENTS Subcellular localization image for SHROOM2 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
plasma membrane 5
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for SHROOM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016324 apical plasma membrane ISS 16684770
GO:0030864 colocalizes_with cortical actin cytoskeleton ISS 16684770
genes like me logo Genes that share ontologies with SHROOM2: view

Pathways & Interactions for SHROOM2 Gene

SuperPathways for SHROOM2 Gene

Superpath Contained pathways
1 Tight junction
genes like me logo Genes that share pathways with SHROOM2: view

Pathways by source for SHROOM2 Gene

1 KEGG pathway for SHROOM2 Gene

Gene Ontology (GO) - Biological Process for SHROOM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 NOT cell morphogenesis ISS 16684770
GO:0016477 cell migration ISS --
GO:0035725 sodium ion transmembrane transport TAS 7795590
GO:0043010 camera-type eye development ISS --
GO:0043482 cellular pigment accumulation ISS --
genes like me logo Genes that share ontologies with SHROOM2: view

No data available for SIGNOR curated interactions for SHROOM2 Gene

Drugs & Compounds for SHROOM2 Gene

No Compound Related Data Available

Transcripts for SHROOM2 Gene

Unigene Clusters for SHROOM2 Gene

Shroom family member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SHROOM2 Gene

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

Relevant External Links for SHROOM2 Gene

GeneLoc Exon Structure for
SHROOM2
ECgene alternative splicing isoforms for
SHROOM2

Expression for SHROOM2 Gene

mRNA expression in normal human tissues for SHROOM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SHROOM2 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.1).

Protein differential expression in normal tissues from HIPED for SHROOM2 Gene

This gene is overexpressed in Fetal Brain (27.4), Breast (16.5), and Fetal testis (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SHROOM2 Gene



SOURCE GeneReport for Unigene cluster for SHROOM2 Gene Hs.567236

mRNA Expression by UniProt/SwissProt for SHROOM2 Gene

Q13796-SHRM2_HUMAN
Tissue specificity: Abundant in retina and melanoma; also in brain, placenta, lung, kidney and pancreas.
genes like me logo Genes that share expression patterns with SHROOM2: view

Protein tissue co-expression partners for SHROOM2 Gene

Primer Products

In Situ Assay Products

Orthologs for SHROOM2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SHROOM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SHROOM2 35
  • 97.16 (n)
  • 95.73 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 47 (a)
OneToMany
-- 36
  • 91 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
-- 36
  • 54 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SHROOM2 36
  • 70 (a)
OneToOne
SHROOM2 35
  • 78.78 (n)
  • 73.07 (a)
mouse
(Mus musculus)
Mammalia Shroom2 16
Shroom2 36
  • 69 (a)
OneToOne
Shroom2 35
  • 73.71 (n)
  • 70.98 (a)
oppossum
(Monodelphis domestica)
Mammalia SHROOM2 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SHROOM2 36
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Shroom2 35
  • 74.06 (n)
  • 71.84 (a)
chicken
(Gallus gallus)
Aves SHROOM2 35
  • 63.5 (n)
  • 59.97 (a)
SHROOM2 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SHROOM2 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia shroom2 35
  • 55.96 (n)
  • 52.66 (a)
Str.7319 35
zebrafish
(Danio rerio)
Actinopterygii SHROOM2 (1 of 2) 36
  • 36 (a)
OneToMany
SHROOM2 (2 of 2) 36
  • 44 (a)
OneToMany
LOC556551 35
  • 55.88 (n)
  • 49.95 (a)
wufj08g11 35
fruit fly
(Drosophila melanogaster)
Insecta Shroom 36
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
ManyToMany
CSA.5284 36
  • 43 (a)
ManyToMany
Species with no ortholog for SHROOM2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 SHROOM2 Gene

ENSEMBL:
Gene Tree for SHROOM2 (if available)
TreeFam:
Gene Tree for SHROOM2 (if available)

Paralogs for SHROOM2 Gene

Paralogs for SHROOM2 Gene

(1) SIMAP similar genes for SHROOM2 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for SHROOM2 Gene

genes like me logo Genes that share paralogs with SHROOM2: view

Variants for SHROOM2 Gene

Sequence variations from dbSNP and Humsavar for SHROOM2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs2073942 - 9,946,907(+) TTATT(C/G)GACAG reference, missense
VAR_036577 A breast cancer sample
rs16985780 - 9,898,225(+) GGGGA(A/C)CCCGG reference, missense
rs12012202 - 9,944,752(+) AGGCC(A/G)TCGTG reference, missense
rs757018 -- 9,789,258(+) TCTGG(A/G)TCTAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SHROOM2 Gene

Variant ID Type Subtype PubMed ID
esv28708 CNV Loss 19812545
esv2739957 CNV Deletion 23290073
esv2147584 CNV Deletion 18987734
esv2739958 CNV Deletion 23290073
esv2739959 CNV Deletion 23290073
esv1350812 CNV Insertion 17803354

Variation tolerance for SHROOM2 Gene

Residual Variation Intolerance Score: 97.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.86; 58.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SHROOM2 Gene

HapMap Linkage Disequilibrium report
SHROOM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SHROOM2 Gene

Disorders for SHROOM2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SHROOM2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
ocular albinism
  • xloa
albinism
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SHROOM2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SHROOM2
genes like me logo Genes that share disorders with SHROOM2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SHROOM2 Gene

Publications for SHROOM2 Gene

  1. Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. (PMID: 7795590) Schiaffino V.M. … Ballabio A. (Hum. Mol. Genet. 1995) 2 3 4 23 67
  2. A new standard nomenclature for proteins related to Apx and Shroom. (PMID: 16615870) Hagens O. … Wallingford J.B. (BMC Cell Biol. 2006) 2 3
  3. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. (PMID: 23535732) Eeles R.A. … Easton D.F. (Nat. Genet. 2013) 3
  4. Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. (PMID: 22634755) Dunlop M.G. … Houlston R.S. (Nat. Genet. 2012) 3
  5. Shroom2 regulates contractility to control endothelial morphogenesis. (PMID: 21248203) Farber M.J. … Hildebrand J.D. (Mol. Biol. Cell 2011) 3

Products for SHROOM2 Gene

Sources for SHROOM2 Gene

Back to Top

Content