PALS2 protein associated with LIN7 2, MAGUK p55 family member [Homo sapiens (human)] - Gene

Summary

Official Symbol: PALS2provided by HGNC
Official Full Name: protein associated with LIN7 2, MAGUK p55 family memberprovided by HGNC
Primary source: HGNC:HGNC:18167
See related: Ensembl:ENSG00000105926 MIM:606959; AllianceGenome:HGNC:18167
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MPP6; VAM1; p55T; VAM-1
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 proteins. All MAGUKs contain a PDZ-SH3-GUK core and are divided into 4 subfamilies, DLG-like (see DLG1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains. MPP6 is a member of the p55-like MAGUK subfamily (Tseng et al., 2001 [PubMed 11311936]).[supplied by OMIM, Mar 2008]
Expression: Broad expression in gall bladder (RPKM 5.7), testis (RPKM 4.9) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p15.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (24573452..24694193)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (24711447..24832205)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (24613071..24733812)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mex-3 RNA binding family member A (MEX3A)/circMPP6 complex promotes colorectal cancer progression by inhibiting autophagy.
Title: Mex-3 RNA binding family member A (MEX3A)/circMPP6 complex promotes colorectal cancer progression by inhibiting autophagy.
Elevated MPP6 expression correlates with an unfavorable prognosis, angiogenesis and immune evasion in hepatocellular carcinoma.
Title: Elevated MPP6 expression correlates with an unfavorable prognosis, angiogenesis and immune evasion in hepatocellular carcinoma.
MPP6 stimulates both RRP6 and DIS3 to degrade a specified subset of MTR4-sensitive substrates in the human nucleus.
Title: MPP6 stimulates both RRP6 and DIS3 to degrade a specified subset of MTR4-sensitive substrates in the human nucleus.
Multi-ethnic GWAS and meta-analysis of sleep quality identify MPP6 as a novel gene that functions in sleep center neurons.
Title: Multi-ethnic GWAS and meta-analysis of sleep quality identify MPP6 as a novel gene that functions in sleep center neurons.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_26730-26731:1037208705:1 (e-PCR)
- UniSTS:269061

GDB:1318172 (e-PCR)
- UniSTS:12333

GDB:4585051 (e-PCR)
- UniSTS:15948

MPP6 (e-PCR)
- UniSTS:503706

G17167 (e-PCR)
- UniSTS:57244

D7S1786 (e-PCR)
- UniSTS:40420

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in protein-containing complex assembly	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cell-cell junction	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein PALS2

Names: MAGUK p55 subfamily member 6; MAGUK protein p55T; VELI-associated MAGUK 1; membrane palmitoylated protein 6; membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6); protein associated with LIN7 2, MAGUK family member; protein associated with Lin7 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001303037.2 → NP_001289966.1 protein PALS2

See identical proteins and their annotated locations for NP_001289966.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an exon in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC003093, AC005084, AF162130, BM685172

Consensus CDS

CCDS5388.1

UniProtKB/Swiss-Prot

A4D157, Q9H0E1, Q9NZW5

Related

ENSP00000222644.4, ENST00000222644.10

Conserved Domains (5) summary

smart00569
Location:2 → 55

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12038
Location:219 → 279

SH3_MPP6; Src Homology 3 domain of Membrane Protein, Palmitoylated 6 (or MAGUK p55 subfamily member 6)

cd00992
Location:133 → 206

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:337 → 527

Guanylate_kin; Guanylate kinase

pfam02828
Location:57 → 108

L27; L27 domain
NM_016447.4 → NP_057531.2 protein PALS2

See identical proteins and their annotated locations for NP_057531.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC003093, AC005084, AF162130, AL136836, BG766138, BM685172

Consensus CDS

CCDS5388.1

UniProtKB/Swiss-Prot

A4D157, Q9H0E1, Q9NZW5

Related

ENSP00000379737.2, ENST00000396475.6

Conserved Domains (5) summary

smart00569
Location:2 → 55

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12038
Location:219 → 279

SH3_MPP6; Src Homology 3 domain of Membrane Protein, Palmitoylated 6 (or MAGUK p55 subfamily member 6)

cd00992
Location:133 → 206

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:337 → 527

Guanylate_kin; Guanylate kinase

pfam02828
Location:57 → 108

L27; L27 domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

24573452..24694193

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011515425.3 → XP_011513727.1 protein PALS2 isoform X1

See identical proteins and their annotated locations for XP_011513727.1

UniProtKB/Swiss-Prot

A4D157, Q9H0E1, Q9NZW5

Conserved Domains (5) summary

smart00569
Location:2 → 55

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12038
Location:219 → 279

SH3_MPP6; Src Homology 3 domain of Membrane Protein, Palmitoylated 6 (or MAGUK p55 subfamily member 6)

cd00992
Location:133 → 206

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:337 → 527

Guanylate_kin; Guanylate kinase

pfam02828
Location:57 → 108

L27; L27 domain
XM_017012316.3 → XP_016867805.1 protein PALS2 isoform X1

UniProtKB/Swiss-Prot

A4D157, Q9H0E1, Q9NZW5

Conserved Domains (5) summary

smart00569
Location:2 → 55

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12038
Location:219 → 279

SH3_MPP6; Src Homology 3 domain of Membrane Protein, Palmitoylated 6 (or MAGUK p55 subfamily member 6)

cd00992
Location:133 → 206

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:337 → 527

Guanylate_kin; Guanylate kinase

pfam02828
Location:57 → 108

L27; L27 domain
XM_006715738.4 → XP_006715801.1 protein PALS2 isoform X1

See identical proteins and their annotated locations for XP_006715801.1

UniProtKB/Swiss-Prot

A4D157, Q9H0E1, Q9NZW5

Conserved Domains (5) summary

smart00569
Location:2 → 55

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12038
Location:219 → 279

SH3_MPP6; Src Homology 3 domain of Membrane Protein, Palmitoylated 6 (or MAGUK p55 subfamily member 6)

cd00992
Location:133 → 206

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:337 → 527

Guanylate_kin; Guanylate kinase

pfam02828
Location:57 → 108

L27; L27 domain
XM_017012315.2 → XP_016867804.1 protein PALS2 isoform X1

UniProtKB/Swiss-Prot

A4D157, Q9H0E1, Q9NZW5

Conserved Domains (5) summary

smart00569
Location:2 → 55

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12038
Location:219 → 279

SH3_MPP6; Src Homology 3 domain of Membrane Protein, Palmitoylated 6 (or MAGUK p55 subfamily member 6)

cd00992
Location:133 → 206

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:337 → 527

Guanylate_kin; Guanylate kinase

pfam02828
Location:57 → 108

L27; L27 domain
XM_006715739.4 → XP_006715802.1 protein PALS2 isoform X1

See identical proteins and their annotated locations for XP_006715802.1

UniProtKB/Swiss-Prot

A4D157, Q9H0E1, Q9NZW5

Conserved Domains (5) summary

smart00569
Location:2 → 55

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12038
Location:219 → 279

SH3_MPP6; Src Homology 3 domain of Membrane Protein, Palmitoylated 6 (or MAGUK p55 subfamily member 6)

cd00992
Location:133 → 206

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:337 → 527

Guanylate_kin; Guanylate kinase

pfam02828
Location:57 → 108

L27; L27 domain
XM_006715740.4 → XP_006715803.1 protein PALS2 isoform X1

See identical proteins and their annotated locations for XP_006715803.1

UniProtKB/Swiss-Prot

A4D157, Q9H0E1, Q9NZW5

Conserved Domains (5) summary

smart00569
Location:2 → 55

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12038
Location:219 → 279

SH3_MPP6; Src Homology 3 domain of Membrane Protein, Palmitoylated 6 (or MAGUK p55 subfamily member 6)

cd00992
Location:133 → 206

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:337 → 527

Guanylate_kin; Guanylate kinase

pfam02828
Location:57 → 108

L27; L27 domain
XM_005249775.6 → XP_005249832.1 protein PALS2 isoform X2

See identical proteins and their annotated locations for XP_005249832.1

UniProtKB/TrEMBL

B8ZZG1

Related

ENSP00000386262.1, ENST00000409761.5

Conserved Domains (3) summary

cd12038
Location:107 → 167

SH3_MPP6; Src Homology 3 domain of Membrane Protein, Palmitoylated 6 (or MAGUK p55 subfamily member 6)

cd00992
Location:21 → 94

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:225 → 415

Guanylate_kin; Guanylate kinase