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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 Shroom2 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. 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 SHROOM3.

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

Enhancers for SHROOM2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF009844 1.2 Ensembl ENCODE 24.4 +60.2 60193 3.2 SOX13 SAP130 CEBPB CEBPG EP300 TEAD3 CEBPA SMAD4 FOS BCL6 SHROOM2 GPR143 HMGN1P33 EIF5P1
GH0XF009829 0.6 ENCODE 19.1 +43.5 43486 1.3 CTCF JUN BMI1 RAD21 RELA CBX5 EED ETV6 FOS FOSL2 SHROOM2 GPR143 EIF5P1 HMGN1P33
GH0XF009788 0.9 Ensembl ENCODE 16.2 +3.3 3284 2.7 SOX13 SAP130 FOXA3 TEAD4 MNT DPF2 RAD21 ZNF217 CEBPA MAFK SHROOM2 GPR143 PIR43176
GH0XF009824 1.4 Ensembl ENCODE 13.9 +38.7 38691 0.6 ZNF7 SHROOM2 GPR143 EIF5P1 HMGN1P33
GH0XF009818 0.3 FANTOM5 13.9 +32.4 32368 0.3 KLF9 GPR143 SHROOM2 EIF5P1 PIR62345
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SHROOM2 on UCSC Golden Path with GeneCards custom track

Promoters for SHROOM2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000475244 298 2601 CTCF E2F1 POLR2A NRF1 ZMYM3 KLF9

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.

    Three dimensional structures from OCA and Proteopedia for SHROOM2 Gene

neXtProt entry for SHROOM2 Gene

Post-translational modifications for SHROOM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:0005515 protein binding IPI 17474147
GO:0008013 beta-catenin binding ISS 16684770
GO:0015280 ligand-gated sodium channel activity TAS 7795590
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

Inhibitory RNA Products

Flow Cytometry 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:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton ISS --
GO:0005874 microtubule IEA --
GO:0005886 plasma membrane ISS --
GO:0005913 cell-cell adherens junction ISS 16684770
genes like me logo Genes that share ontologies with SHROOM2: view

Pathways & Interactions for SHROOM2 Gene

SuperPathways for SHROOM2 Gene

SuperPathway 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:0002089 lens morphogenesis in camera-type eye ISS --
GO:0007275 multicellular organism development IEA --
GO:0007420 brain development ISS --
GO:0008057 eye pigment granule organization ISS --
genes like me logo Genes that share ontologies with SHROOM2: view

No data available for SIGNOR curated interactions for SHROOM2 Gene

Transcripts for SHROOM2 Gene

Unigene Clusters for SHROOM2 Gene

Shroom family member 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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, MaxQB, and MOPED for SHROOM2 Gene



Protein tissue co-expression partners for SHROOM2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SHROOM2 Gene:

SHROOM2

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

Primer 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 34
  • 97.16 (n)
cow
(Bos Taurus)
Mammalia -- 35
  • 93 (a)
OneToMany
-- 35
  • 91 (a)
OneToMany
-- 35
  • 54 (a)
OneToMany
-- 35
  • 47 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SHROOM2 34 35
  • 78.78 (n)
rat
(Rattus norvegicus)
Mammalia Shroom2 34
  • 74.06 (n)
mouse
(Mus musculus)
Mammalia Shroom2 34 16 35
  • 73.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SHROOM2 35
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SHROOM2 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves SHROOM2 34 35
  • 63.5 (n)
lizard
(Anolis carolinensis)
Reptilia SHROOM2 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia shroom2 34
  • 55.96 (n)
Str.7319 34
zebrafish
(Danio rerio)
Actinopterygii LOC556551 34
  • 55.88 (n)
SHROOM2 (2 of 2) 35
  • 44 (a)
OneToMany
SHROOM2 (1 of 2) 35
  • 36 (a)
OneToMany
wufj08g11 34
fruit fly
(Drosophila melanogaster)
Insecta Shroom 35
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 43 (a)
ManyToMany
CSA.5284 35
  • 43 (a)
ManyToMany
Species where no ortholog for SHROOM2 was found in the sources mined by GeneCards:
  • 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
VAR_036577 A breast cancer sample
rs1003825 -- 9,928,812(+) gactc(A/C)tacat intron-variant
rs1003826 -- 9,928,853(+) acaac(A/G)tacat intron-variant
rs1016625 -- 9,863,061(+) TGCTG(A/C)CCTCC intron-variant
rs1016626 -- 9,863,386(+) TGTCC(A/G)TTAGC intron-variant

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

Variant ID Type Subtype PubMed ID
esv1350812 CNV insertion 17803354
esv2147584 CNV deletion 18987734
esv2739957 CNV deletion 23290073
esv2739958 CNV deletion 23290073
esv2739959 CNV deletion 23290073
esv28708 CNV loss 19812545
nsv1075717 CNV deletion 25765185
nsv1122260 CNV deletion 24896259
nsv1142565 CNV tandem duplication 24896259
nsv957824 CNV deletion 24416366

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SHROOM2

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

Disorders for SHROOM2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ocular albinism
  • xloa
- 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 22 64
  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 4 64
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4 64
  4. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 4 64
  5. 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 64

Products for SHROOM2 Gene

Sources for SHROOM2 Gene

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