MPZL2

Protein identityUniProt · HPA

UniProt accession

O60487

Gene

MPZL2

Ensembl

ENSG00000149573

Chromosome

11

Canonical length

215 aa

Protein class

Disease related genes, Human disease related genes, Predicted membrane proteins

Subcellular location

Cell Junctions

OverviewNCBI Gene

Thymus development depends on a complex series of interactions between thymocytes and the stromal component of the organ. Epithelial V-like antigen (EVA) is expressed in thymus epithelium and strongly downregulated by thymocyte developmental progression. This gene is expressed in the thymus and in several epithelial structures early in embryogenesis. It is highly homologous to the myelin protein zero and, in thymus-derived epithelial cell lines, is poorly soluble in nonionic detergents, strongly suggesting an association to the cytoskeleton. Its capacity to mediate cell adhesion through a homophilic interaction and its selective regulation by T cell maturation might imply the participation of EVA in the earliest phases of thymus organogenesis. The protein bears a characteristic V-type domain and two potential N-glycosylation sites in the extracellular domain; a putative serine phosphorylation site for casein kinase 2 is also present in the cytoplasmic tail. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

215 residues, UniProt reviewed canonical sequence.

>O60487|MPZL2
     1  MYGKSSTRAV LLLLGIQLTA LWPIAAVEIY TSRVLEAVNG TDARLKCTFS SFAPVGDALT
    61  VTWNFRPLDG GPEQFVFYYH IDPFQPMSGR FKDRVSWDGN PERYDASILL WKLQFDDNGT
   121  YTCQVKNPPD VDGVIGEIRL SVVHTVRFSE IHFLALAIGS ACALMIIIVI VVVLFQHYRK
   181  KRWAERAHKV VEIKSKEEER LNQEKKVSVY LEDTD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MPZL2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.39

Highest tissue expression

208 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MPZL2.

Disease | AllUniProt

Conditions MPZL2 is implicated in, by any mechanism.

• Deafness, autosomal recessive, 111 (DFNB111) MIM:618145

Disease | GeneticClinVar

18 pathogenic / likely-pathogenic of 76 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hearing loss, autosomal recessive 111
• MPZL2-related disorder
• Monogenic hearing loss
• Hearing loss, autosomal recessive
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.86

gnomAD pLI

0

gnomAD missense Z

-0.48

DepMap mean gene effect

-0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anatomical structure morphogenesis
• cell-cell adhesion
• homophilic cell adhesion via plasma membrane adhesion molecules

Cellular components

• cytoskeleton
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Myelin P0 protein-related
• Immunoglobulin domain subtype
• Immunoglobulin-like domain
• Immunoglobulin V-set domain
• Immunoglobulin-like fold
• Immunoglobulin-like domain superfamily
• Immunoglobulin V-set domain
• Myelin protein zero-like protein 2, Ig-like domain

KeywordsUniProt

• Cell adhesion
• Deafness
• Disulfide bond
• Glycoprotein
• Immunoglobulin domain
• Membrane
• Non-syndromic deafness
• Signal
• Transmembrane
• Transmembrane helix