MPZL2 - myelin protein zero like 2 Gene

Also Known as EVA; EVA1; DFNB111

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10205

About MPZL2

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:118,253,416-118,264,297 (from NCBI)

This gene has 7 transcripts (splice variants), 255 orthologues, 6 paralogues and is associated with 2 phenotypes. Broad expression in esophagus (RPKM 92.3), urinary bladder (RPKM 53.8) and 14 other tissues.

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]

MPZL2 Products (2)

mRNA Protein Name
NM_005797.4 NP_005788.1 myelin protein zero-like protein 2 precursor
NM_144765.3 NP_658911.1 myelin protein zero-like protein 2 precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
21982860 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MPZL2 Protein Structure

V-set

V-set: Immunoglobulin V-set domain (30 - 141)

  • 0
  • 100
  • 200
  • 215 a.a.
Protein Preferred Names Protein Names

myelin protein zero-like protein 2

  • epithelial V-like antigen 1

MPZL2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MPZL2 O60487 MPZL3 Homo sapiens Q6UWV2 21982860
Intra
MPZL2 O60487 MPZL3 Homo sapiens Q6UWV2
SPR
21982860
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant MPZL2 Proteins

Cat. No. Product Name Accession Purity
HY-P700717 MPZL2 Protein, Human (HEK293, hFc) O60487 (V27-L154) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Deafness, Autosomal Recessive 111
  • DFNB111

  • Autosomal Recessive Nonsyndromic Deafness 111

  • Autosomal Recessive Deafness 111

  • Deafness, Autosomal Recessive, 111

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb
  • Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

  • Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

  • Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

  • Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

  • Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

  • Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

  • Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Exudative Vitreoretinopathy 4
  • EVR4

  • Vitreoretinopathy, Exudative 4

  • Vitreoretinopathy, Exudative, Type 4

Deafness And Myopia
  • High Myopia-Sensorineural Deafness Syndrome

  • DFNMYP

  • Deafness And Myopia Syndrome

  • Deafness, Cochlear, Plus

  • High Myopia And Sensorineural Deafness

  • Myopia And Deafness

  • High Myopia-Sensorineural Hearing Loss Syndrome

Exudative Vitreoretinopathy 2, X-Linked
  • EVR2

  • Evrx

  • Fevrx

  • X-Linked Exudative Vitreoretinopathy 2

  • Exudative Vitreoretinopathy, Familial, 2

  • Fevr, X-Linked

  • Vitreoretinopathy, Exudative 2

  • Exudative Vitreoretinopathy Familial 2

  • Fevr X-Linked

  • X-Linked Familial Exudative Vitreoretinopathy

  • Vitreoretinopathy, Exudative, X-Linked, Type 2

  • Exudative Vitreoretinopathy, Familial, X-Linked Recessive

Exudative Vitreoretinopathy 3
  • EVR3

Deafness, Autosomal Dominant 65
  • DFNA65

  • Autosomal Dominant Nonsyndromic Deafness 65

  • Autosomal Dominant Deafness 65

  • Deafness, Autosomal Dominant, 65

  • Deafness, Autosomal Dominant, Type 65

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus MPZL2 VGNC VGNC:31593
Felis catus MPZL2 VGNC VGNC:63577
Rattus norvegicus MPZL2 RGD RGD:1307196
Mus musculus MPZL2 MGD MGI:1289160
Macaca mulatta MPZL2 VGNC VGNC:107459
Canis familiaris MPZL2 VGNC VGNC:43355
Others MPZL2 NCBI