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

Gene ID: 114569, updated on 9-Dec-2024

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
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Genomic context

See MAL2 in Genome Data Viewer
Location:
8q24.12
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (119208363..119245673)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (120336831..120374123)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (120220602..120257913)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene collectin subfamily member 10 Neighboring gene uncharacterized LOC101927513 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:120079461-120080660 Neighboring gene Sharpr-MPRA regulatory region 7316 Neighboring gene NANOG hESC enhancer GRCh37_chr8:120136171-120136709 Neighboring gene uncharacterized LOC105375725 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:120176788-120177403 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:120181673-120182872 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:120218741-120219940 Neighboring gene MAL2 antisense RNA 1 Neighboring gene microRNA 548az Neighboring gene uncharacterized LOC124902009 Neighboring gene small nucleolar RNA SNORA32

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 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

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)

  1. NM_052886.3NP_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:32169
    MARVEL; Membrane-associating 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

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    119208363..119245673
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516807.3XP_011515109.1  protein MAL2 isoform X1

    Conserved Domains (1) summary
    pfam01284
    Location:44112
    MARVEL; Membrane-associating domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    120336831..120374123
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359693.1XP_054215668.1  protein MAL2 isoform X1