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Aliases for SHROOM2 Gene

Aliases for SHROOM2 Gene

  • Shroom Family Member 2 2 3 5
  • Apical-Like Protein 3 4
  • Protein Shroom2 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. Gene Ontology (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).

Additional gene information for SHROOM2 Gene

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

Genomics for SHROOM2 Gene

GeneHancer (GH) Regulatory Elements for SHROOM2 Gene

Promoters and enhancers for SHROOM2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ009785 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 616.1 +1.5 1504 6.2 SP1 MAFK CEBPG RXRA CEBPA CTBP1 FOXA2 ZFX JUND YY1 SHROOM2 GPR143 PIR43176
GH0XJ009910 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 604.4 +126.1 126133 3.3 MAFK ZSCAN4 ZNF316 JUN SIN3A SHROOM2 CLDN34 GC0XM009986 ENSG00000206844
GH0XJ009844 Enhancer 0.8 Ensembl ENCODE 24.4 +60.2 60192 3.2 CEBPG CEBPA CEBPB FOS EP300 SAP130 NFE2L2 BCL6 SMAD4 TEAD3 SHROOM2 GPR143 HMGN1P33 EIF5P1
GH0XJ009829 Enhancer 0.9 Ensembl ENCODE 19.2 +43.4 43377 1.6 RELA CREM FOSL2 IKZF1 BACH1 IKZF2 TRIM22 CEBPB CBFB JUN SHROOM2 GPR143 EIF5P1 HMGN1P33
GH0XJ009852 Enhancer 0.6 Ensembl ENCODE 18 +67.1 67099 3 ZKSCAN1 GATA3 JUND SHROOM2 GPR143 HMGN1P33 EIF5P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SHROOM2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SHROOM2 gene promoter:
  • AP-1
  • AP-4
  • Arnt
  • Lmo2
  • NF-kappaB
  • NF-kappaB1
  • POU2F1
  • POU2F1a
  • RelA
  • STAT5B

Genomic Locations for SHROOM2 Gene

Genomic Locations for SHROOM2 Gene
chrX:9,786,402-9,949,443
(GRCh38/hg38)
Size:
163,042 bases
Orientation:
Plus strand
chrX:9,754,496-9,917,483
(GRCh37/hg19)
Size:
162,988 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

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SHROOM2 Gene

Suggested Antigen Peptide Sequences for SHROOM2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ39277 fis, clone OCBBF2010858, highly similar to APICAL-LIKE PROTEIN (B3KU73_HUMAN)
  • Protein APXL (SHRM2_HUMAN)

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.
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).

Phenotypes From GWAS Catalog for SHROOM2 Gene

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 ISS,IEA 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

Clone Products

  • Applied Biological Materials (abm): Clones for SHROOM2 - Now 50% OFF >
  • * SHROOM2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SHROOM2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SHROOM2 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
cytosol 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SHROOM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton ISS --
GO:0005874 microtubule IEA --
GO:0005886 plasma membrane ISS --
genes like me logo Genes that share ontologies with SHROOM2: view

Pathways & Interactions for SHROOM2 Gene

PathCards logo

SuperPathways for SHROOM2 Gene

No Data Available

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:0007015 actin filament organization IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0007420 brain development ISS --
genes like me logo Genes that share ontologies with SHROOM2: view

No data available for Pathways by source and SIGNOR curated interactions for SHROOM2 Gene

Drugs & Compounds for SHROOM2 Gene

No Compound Related Data Available

Transcripts for SHROOM2 Gene

mRNA/cDNA for SHROOM2 Gene

Unigene Clusters for SHROOM2 Gene

Shroom family member 2:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for SHROOM2 - Now 50% OFF >
  • * SHROOM2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SHROOM2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, 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.

Evidence on tissue expression from TISSUES for SHROOM2 Gene

  • Eye(4.1)
  • Liver(4.1)
  • Nervous system(3.4)
genes like me logo Genes that share expression patterns with SHROOM2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SHROOM2 Gene

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 35 34
  • 78.78 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Shroom2 34
  • 74.06 (n)
mouse
(Mus musculus)
Mammalia Shroom2 17 35 34
  • 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 35 34
  • 63.5 (n)
OneToOne
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 CSA.5284 35
  • 43 (a)
ManyToMany
-- 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)
Aminode:
Evolutionary constrained regions (ECRs) for SHROOM2: view image

Paralogs for SHROOM2 Gene

Paralogs for SHROOM2 Gene

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

  • SHRM2_HUMAN
  • C9IZC6_HUMAN
  • F5H3B6_HUMAN

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 Variation AA Info Type
rs1033602309 A breast cancer sample 9,937,279(+) G/C coding_sequence_variant, missense_variant
rs1000004665 -- 9,813,747(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000008641 -- 9,786,608(+) G/C coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant
rs1000027737 -- 9,935,222(+) C/T intron_variant
rs1000033619 -- 9,894,653(+) G/T coding_sequence_variant, genic_upstream_transcript_variant, missense_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)

Additional Variant Information 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

Additional Disease Information for SHROOM2

No disorders were found for SHROOM2 Gene.

No data available for MalaCards , 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 MV … Ballabio A (Human molecular genetics 1995) 2 3 4 23 58
  2. A new standard nomenclature for proteins related to Apx and Shroom. (PMID: 16615870) Hagens O … Wallingford JB (BMC cell biology 2006) 2 3 4 58
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 58
  4. Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort. (PMID: 29423651) Chen Z … Wang H (Human genetics 2018) 3 58
  5. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 58

Products for SHROOM2 Gene

Sources for SHROOM2 Gene

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