MAL2 mal, T cell differentiation protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAL2provided by HGNC
Official Full Name: mal, T cell differentiation protein 2provided by HGNC
Primary source: HGNC:HGNC:13634
See related: Ensembl:ENSG00000147676 MIM:609684; AllianceGenome:HGNC:13634
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene encodes a multispan transmembrane protein belonging to the MAL proteolipid family. The protein is a component of lipid rafts and, in polarized cells, it primarily localizes to endosomal structures beneath the apical membrane. It is required for transcytosis, an intracellular transport pathway used to deliver membrane-bound proteins and exogenous cargos from the basolateral to the apical surface. [provided by RefSeq, Jul 2008]
Expression: Broad expression in esophagus (RPKM 140.3), thyroid (RPKM 100.0) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.12

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (119208363..119245673)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (120336831..120374123)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (120220602..120257913)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

LINC00460 Facilitates Cell Proliferation and Inhibits Ferroptosis in Breast Cancer Through the miR-320a/MAL2 Axis.
Title: LINC00460 Facilitates Cell Proliferation and Inhibits Ferroptosis in Breast Cancer Through the miR-320a/MAL2 Axis.
The novel circ_0084904/miR-802/MAL2 axis promotes the development of cervical cancer.
Title: The novel circ_0084904/miR-802/MAL2 axis promotes the development of cervical cancer.
MAL2 drives immune evasion in breast cancer by suppressing tumor antigen presentation.
Title: MAL2 drives immune evasion in breast cancer by suppressing tumor antigen presentation.
MAL2 interacts with IQGAP1 to promote pancreatic cancer progression by increasing ERK1/2 phosphorylation.
Title: MAL2 interacts with IQGAP1 to promote pancreatic cancer progression by increasing ERK1/2 phosphorylation.
RP11-284F21.9 knockdown could reduce MAL2 expression, while miR-383-5p inhibitors abolished this repressive effect
Title: RP11-284F21.9 promotes oral squamous cell carcinoma development via the miR-383-5p/MAL2 axis.
MAL2 has a role in promoting proliferation, migration, and invasion through regulating epithelial-mesenchymal transition in breast cancer cell lines
Title: MAL2 promotes proliferation, migration, and invasion through regulating epithelial-mesenchymal transition in breast cancer cell lines.
Up-regulation of MAL2 was hound in papillary thyroid gland tissues and significantly correlated with poor overall survival.
Title: MiR-129 regulates growth and invasion by targeting MAL2 in papillary thyroid carcinoma.
data suggested that MAL2 and TPD52 might be potential biomarkers for clinical prognosis and might be a promising therapeutic target for CRC
Title: The four-transmembrane protein MAL2 and tumor protein D52 (TPD52) are highly expressed in colorectal cancer and correlated with poor prognosis.
MAL2 and STK16 function to sort secretory soluble cargo into the constitutive secretory pathway in hepatocytes.
Title: Serine/threonine kinase 16 and MAL2 regulate constitutive secretion of soluble cargo in hepatic cells.
Results prove for the first time the interaction of PLP and MAL2 in oligodendrocytic cells, supporting the transcytotic model of PLP transport previously suggested.
Title: Interaction of PLP with GFP-MAL2 in the human oligodendroglial cell line HOG.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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
Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels. 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

RH102710 (e-PCR)
- UniSTS:97044

SHGC-32002 (e-PCR)
- UniSTS:6783

RH47269 (e-PCR)
- UniSTS:81813

D8S1437E (e-PCR)
- UniSTS:151226

MAL2_906 (e-PCR)
- UniSTS:277465

MAL2_V200 (e-PCR)
- UniSTS:277465

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of myelin sheath	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in myelination	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in hippocampal mossy fiber to CA3 synapse	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein MAL2

Names: MAL proteolipid protein 2; MAL2 proteolipid protein; myelin and lymphocyte protein 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_052886.3 → NP_443118.1 protein MAL2

See identical proteins and their annotated locations for NP_443118.1

Status: REVIEWED

Source sequence(s)

AC087856, AY007723, CV574204

Consensus CDS

CCDS75780.1

UniProtKB/Swiss-Prot

B2R520, Q6ZMD9, Q969L2

Related

ENSP00000479708.1, ENST00000614891.5

Conserved Domains (1) summary

pfam01284
Location:32 → 169

MARVEL; Membrane-associating domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

119208363..119245673

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011516807.3 → XP_011515109.1 protein MAL2 isoform X1

Conserved Domains (1) summary

pfam01284
Location:44 → 112

MARVEL; Membrane-associating domain