PALS2 (protein associated with LIN7 2, MAGUK p55 family member)

Gene

• Entrez ID: 51678
• Gene name: Protein associated with LIN7 2, MAGUK p55 family member
• Gene symbol: PALS2
• Synonyms (NCBI Gene): MPP6, VAM-1, VAM1, p55T
• Chromosome: 7
• Chromosome location: 7p15.3
• Summary: Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling protei

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11311936, 24366813, 28514442, 32296183, 33961781
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005911	Component	Cell-cell junction	IBA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11311936
GO:0043226	Component	Organelle	IEA
GO:0065003	Process	Protein-containing complex assembly	NAS	11311936
GO:0070062	Component	Extracellular exosome	HDA	20458337

Other IDs

• MIM: 606959
• HGNC: 18167
• e!Ensembl: ENSG00000105926

Protein

• UniProt ID: Q9NZW5
• Protein name: Protein PALS2 (MAGUK p55 subfamily member 6) (Membrane protein, palmitoylated 6) (Veli-associated MAGUK 1) (VAM-1)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02828	L27	1 → 54	L27 domain	Domain
  PF02828	L27	57 → 109	L27 domain	Domain
  PF00595	PDZ	131 → 206	PDZ domain	Domain
  PF07653	SH3_2	219 → 282	Variant SH3 domain	Domain
  PF00625	Guanylate_kin	337 → 527	Guanylate kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Abundant in testis, brain, and kidney with lower levels detectable in other tissues.
• Sequence:

  MQQVLENLTELPSSTGAEEIDLIFLKGIMENPIVKSLAKAHERLEDSKLEAVSDNNLELV
  NEILEDITPLINVDENVAELVGILKEPHFQSLLEAHDIVASKCYDSPPSSPEMNNSSINN
  QLLPVDAIRILGIHKRAGEPLGVTFRVENNDLVIARILHGGMIDRQGLLHVGDIIKEVNG
  HEVGNNPKELQELLKNISGSVTLKILPSYRDTITPQQVFVKCHFDYNPYNDNLIPCKEAG
  LKFSKGEILQIVNREDPNWWQASHVKEGGSAGLIPSQFLEEKRKAFVRRDWDNSGPFCGT
  ISSKKKKKMMYLTTRNAEFDRHEIQIYEEVAKMPPFQRKTLVLIGAQGVGRRSLKNRFIV
  LNPTRFGTTVPFTSRKPREDEKDGQAYKFVSRSEMEADIKAGKYLEHGEYEGNLYGTKID
  SILEVVQTGRTCILDVNPQALKVLRTSEFMPYVVFIAAPELETLRAMHKAVVDAGITTKL
  LTDSDLKKTVDESARIQRAYNHYFDLIIINDNLDKAFEKLQTAIEKLRMEPQWVPISWVY
  

• Sequence length: 540

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR SALIVARY GLAND CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR SALIVARY GLAND CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	23453885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASDB_DG	23453885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	23453885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37207207	Stimulate	★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	23453885		★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	28877463		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	23453885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pontoneocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	28877463		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	23453885, 31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations