• Gene id: 357

Gene Summary

• Gene Symbol: SHROOM2   Gene   UCSC   Ensembl
• Aliases: APXL, HSAPXL
• Gene name: shroom family member 2
• Alternate names: protein Shroom2, APX homolog of Xenopus, apical-like protein,
• Gene location: Xp22.2 (9786405: 9949442)     Exons: 13     NC_000023.11
• Gene summary(Entrez): 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 endo
• OMIM: 176730

Protein Summary

• Protein general information: Q13796  
  • Name: Protein Shroom2 (Apical like protein) (Protein APXL)
  • Length: 1616  
  • Mass: 176410
  • Tissue specificity: Abundant in retina and melanoma; also in brain, placenta, lung, kidney and pancreas.
• Sequence:

  MEGAEPRARPERLAEAETRAADGGRLVEVQLSGGAPWGFTLKGGREHGEPLVITKIEEGSKAAAVDKLLAGDEIV
  GINDIGLSGFRQEAICLVKGSHKTLKLVVKRRSELGWRPHSWHATKFSDSHPELAASPFTSTSGCPSWSGRHHAS
  SSSHDLSSSWEQTNLQRTLDHFSSLGSVDSLDHPSSRLSVAKSNSSIDHLGSHSKRDSAYGSFSTSSSTPDHTLS
  KADTSSAENILYTVGLWEAPRQGGRQAQAAGDPQGSEEKLSCFPPRVPGDSGKGPRPEYNAEPKLAAPGRSNFGP
  VWYVPDKKKAPSSPPPPPPPLRSDSFAATKSHEKAQGPVFSEAAAAQHFTALAQAQPRGDRRPELTDRPWRSAHP
  GSLGKGSGGPGCPQEAHADGSWPPSKDGASSRLQASLSSSDVRFPQSPHSGRHPPLYSDHSPLCADSLGQEPGAA
  SFQNDSPPQVRGLSSCDQKLGSGWQGPRPCVQGDLQAAQLWAGCWPSDTALGALESLPPPTVGQSPRHHLPQPEG
  PPDARETGRCYPLDKGAEGCSAGAQEPPRASRAEKASQRLAASITWADGESSRICPQETPLLHSLTQEGKRRPES
  SPEDSATRPPPFDAHVGKPTRRSDRFATTLRNEIQMHRAKLQKSRSTVALTAAGEAEDGTGRWRAGLGGGTQEGP
  LAGTYKDHLKEAQARVLRATSFKRRDLDPNPGDLYPESLEHRMGDPDTVPHFWEAGLAQPPSSTSGGPHPPRIGG
  RRRFTAEQKLKSYSEPEKMNEVGLTRGYSPHQHPRTSEDTVGTFADRWKFFEETSKPVPQRPAQKQALHGIPRDK
  PERPRTAGRTCEGTEPWSRTTSLGDSLNAHSAAEKAGTSDLPRRLGTFAEYQASWKEQRKPLEARSSGRCHSADD
  ILDVSLDPQERPQHVHGRSRSSPSTDHYKQEASVELRRQAGDPGEPREELPSAVRAEEGQSTPRQADAQCREGSP
  GSQQHPPSQKAPNPPTFSELSHCRGAPELPREGRGRAGTLPRDYRYSEESTPADLGPRAQSPGSPLHARGQDSWP
  VSSALLSKRPAPQRPPPPKREPRRYRATDGAPADAPVGVLGRPFPTPSPASLDVYVARLSLSHSPSVFSSAQPQD
  TPKATVCERGSQHVSGDASRPLPEALLPPKQQHLRLQTATMETSRSPSPQFAPQKLTDKPPLLIQDEDSTRIERV
  MDNNTTVKMVPIKIVHSESQPEKESRQSLACPAEPPALPHGLEKDQIKTLSTSEQFYSRFCLYTRQGAEPEAPHR
  AQPAEPQPLGTQVPPEKDRCTSPPGLSYMKAKEKTVEDLKSEELAREIVGKDKSLADILDPSVKIKTTMDLMEGI
  FPKDEHLLEEAQQRRKLLPKIPSPRSTEERKEEPSVPAAVSLATNSTYYSTSAPKAELLIKMKDLQEQQEHEEDS
  GSDLDHDLSVKKQELIESISRKLQVLREARESLLEDVQANTVLGAEVEAIVKGVCKPSEFDKFRMFIGDLDKVVN
  LLLSLSGRLARVENALNNLDDGASPGDRQSLLEKQRVLIQQHEDAKELKENLDRRERIVFDILANYLSEESLADY
  EHFVKMKSALIIEQRELEDKIHLGEEQLKCLLDSLQPERGK

• Structural information:
  • Protein Domains: (26..10-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (684..77-)
    (/note="ASD1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00637-)
    (1317..161-)
    (/note="ASD2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00638"-)
  • Interpro: IPR014800  IPR014799  IPR001478  IPR036034  IPR027686   IPR027685  
  • Prosite: PS51306 PS51307 PS50106
  • PDB: 5F4Y 5F5P
  • PDBsum: 5F4Y 5F5P
  • STRING: ENSP00000370299
• Other Databases: GeneCards:  SHROOM2  Malacards:  SHROOM2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008057	eye pigment granule organization	ISS	biological process
GO:0043010	camera-type eye development	ISS	biological process
GO:0007420	brain development	ISS	biological process
GO:0000902	cell morphogenesis	IDA	NOT|biological process
GO:0032401	establishment of melanosome localization	ISS	biological process
GO:0045176	apical protein localization	ISS	biological process
GO:0043583	ear development	ISS	biological process
GO:0030864	cortical actin cytoskeleton	IDA	colocalizes with
GO:0043482	cellular pigment accumulation	ISS	biological process
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0002089	lens morphogenesis in camera-type eye	ISS	biological process
GO:0048593	camera-type eye morphogenesis	ISS	biological process
GO:0032438	melanosome organization	ISS	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0043296	apical junction complex	IBA	cellular component
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0007015	actin filament organization	IBA	biological process
GO:0005912	adherens junction	IBA	cellular component
GO:0016324	apical plasma membrane	IBA	cellular component
GO:0032401	establishment of melanosome localization	IEA	biological process
GO:0045176	apical protein localization	IEA	biological process
GO:0051015	actin filament binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0015280	ligand-gated sodium channel activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0051015	actin filament binding	ISS	molecular function
GO:0008013	beta-catenin binding	ISS	molecular function
GO:0005923	bicellular tight junction	ISS	cellular component
GO:0005912	adherens junction	ISS	cellular component
GO:0003779	actin binding	ISS	molecular function
GO:0005886	plasma membrane	ISS	cellular component
GO:0005856	cytoskeleton	ISS	cellular component
GO:0016477	cell migration	ISS	biological process
GO:0000902	cell morphogenesis	ISS	NOT|biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0051017	actin filament bundle assembly	ISS	NOT|biological process
GO:0030864	cortical actin cytoskeleton	ISS	colocalizes with
GO:0016324	apical plasma membrane	ISS	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq