MPZL2 myelin protein zero like 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MPZL2provided by HGNC
Official Full Name: myelin protein zero like 2provided by HGNC
Primary source: HGNC:HGNC:3496
See related: Ensembl:ENSG00000149573 MIM:604873; AllianceGenome:HGNC:3496
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
Also known as: EVA; EVA1; DFNB111
Summary: 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]
Expression: Broad expression in esophagus (RPKM 92.3), urinary bladder (RPKM 53.8) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q23.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (118253416..118264297, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (118269772..118280653, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (118124131..118135012, complement)

Chromosome 11 - NC_000011.10 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?

Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.
Title: Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.
MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.
Title: MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.
MPZL2 variant analysis with whole exome sequencing in a cohort of Chinese hearing loss patients.
Title: MPZL2 variant analysis with whole exome sequencing in a cohort of Chinese hearing loss patients.
Upregulation of FHL1, SPNS3, and MPZL2 predicts poor prognosis in pediatric acute myeloid leukemia patients with FLT3-ITD mutation.
Title: Upregulation of FHL1, SPNS3, and MPZL2 predicts poor prognosis in pediatric acute myeloid leukemia patients with FLT3-ITD mutation.
A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family.
Title: A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family.
Epithelial V-like antigen 1 (EVA1) expression is increased in hepatocellular carcinoma (HCC) and is associated with a poor prognosis and recurrence in HCC patients. Overexpression of EVA1 promotes cell growth, invasion and migration in vitro. EVA1 is able to upregulate the expression of genes in the ERBB3-PI3K pathway. An increased level of AKT phosphorylation is detected in HCC cells after EVA1 overexpression.
Title: Epithelial V-like antigen 1 promotes hepatocellular carcinoma growth and metastasis via the ERBB-PI3K-AKT pathway.
We show that Mpzl2 is expressed in mouse inner ear, and the protein localizes in the auditory inner and outer hair cells, with an asymmetric subcellular localization. We thus present MPZL2 as a novel gene associated with sensorineural hearing loss.
Title: MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.
CLCA2 links junctional adhesion molecule EVA1, to cytosolic signaling proteins that modulate proliferation and differentiation.
Title: CLCA2 Interactor EVA1 Is Required for Mammary Epithelial Cell Differentiation.
Findings highlight Eva1 as a novel regulator of GIC function and also provide new mechanistic insight into the role of noncanonical NF-kappaB activation in GIC.
Title: Eva1 Maintains the Stem-like Character of Glioblastoma-Initiating Cells by Activating the Noncanonical NF-κB Signaling Pathway.
EVA is expressed in human choroid plexus epithelial cells and CD4 T lymphocytes and regulates CD4+ T lymphocyte adhesion to human choroid plexus epithelial cells in vitro. These data suggest a novel mechanism to regulate CNS immune surveillance.
Title: Characterization of epithelial V-like antigen in human choroid plexus epithelial cells: potential role in CNS immune surveillance.

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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

Associated conditions

Description	Tests
Hearing loss, autosomal recessive 111 MedGen: C4748374 OMIM: 618145 GeneReviews: Not available	Compare labs

Variation

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See studies and variants in dbVar

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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

RH16323 (e-PCR)
- UniSTS:24637

SHGC-57446 (e-PCR)
- UniSTS:66653

RH102807 (e-PCR)
- UniSTS:97141

RH99291 (e-PCR)
- UniSTS:90056

EVA1_11 (e-PCR)
- UniSTS:277218

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 anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoskeleton	TAS 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: myelin protein zero-like protein 2

Names: epithelial V-like antigen 1

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_005797.4 → NP_005788.1 myelin protein zero-like protein 2 precursor

See identical proteins and their annotated locations for NP_005788.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript.

Source sequence(s)

AF275945, AW073724, DA163069

Consensus CDS

CCDS8393.1

UniProtKB/Swiss-Prot

A8K2R1, O60487

Related

ENSP00000278937.2, ENST00000278937.7

Conserved Domains (1) summary

cd05880
Location:27 → 142

IgV_EVA1; Immunoglobulin (Ig)-like domain of epithelial V-like antigen (EVA) 1
NM_144765.3 → NP_658911.1 myelin protein zero-like protein 2 precursor

See identical proteins and their annotated locations for NP_658911.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1 and is the shorter transcript.

Source sequence(s)

BC017774, DA163069

Consensus CDS

CCDS8393.1

UniProtKB/Swiss-Prot

A8K2R1, O60487

Related

ENSP00000408362.2, ENST00000438295.2

Conserved Domains (1) summary

cd05880
Location:27 → 142

IgV_EVA1; Immunoglobulin (Ig)-like domain of epithelial V-like antigen (EVA) 1