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

Gene ID: 114569, updated on 2-May-2020

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
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

Genomic context

See MAL2 in Genome Data Viewer
Location:
8q24.12
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (119208363..119245673)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (120220610..120257913)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene collectin subfamily member 10 Neighboring gene uncharacterized LOC101927513 Neighboring gene uncharacterized LOC105375725 Neighboring gene MAL2 antisense RNA 1 Neighboring gene microRNA 548az Neighboring gene cellular communication network factor 3

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of myelin sheath IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
myelination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcytosis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
endomembrane system IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm 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)

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
    Q969L2
    UniProtKB/TrEMBL
    A0A024R9E4
    Related
    ENSP00000479708.1, ENST00000614891.5
    Conserved Domains (1) summary
    pfam01284
    Location:32169
    MARVEL; Membrane-associating domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011516807.2XP_011515109.1  protein MAL2 isoform X1

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