MPZL2 (myelin protein zero like 2)

2016-10-01  

Identity

HGNC
MPZL2
LOCATION
11q23.3
LOCUSID
10205
ALIAS
DFNB111,EVA,EVA1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10205
MIM: 604873
HGNC: 3496
Ensembl: ENSG00000149573

Variants:

dbSNP: 10205
ClinVar: 10205
TCGA: ENSG00000149573
COSMIC: MPZL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149573ENST00000278937O60487
ENSG00000149573ENST00000278937A0A024R3K1
ENSG00000149573ENST00000438295O60487
ENSG00000149573ENST00000438295A0A024R3K1

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
381975112024Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.0
382541072024MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.0
381975112024Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.0
382541072024MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.0
373907462023MPZL2 variant analysis with whole exome sequencing in a cohort of Chinese hearing loss patients.0
373907462023MPZL2 variant analysis with whole exome sequencing in a cohort of Chinese hearing loss patients.0
352494712022Upregulation of FHL1, SPNS3, and MPZL2 predicts poor prognosis in pediatric acute myeloid leukemia patients with FLT3-ITD mutation.4
352494712022Upregulation of FHL1, SPNS3, and MPZL2 predicts poor prognosis in pediatric acute myeloid leukemia patients with FLT3-ITD mutation.4
332343332021A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family.3
332343332021A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family.3
319974892020Epithelial V-like antigen 1 promotes hepatocellular carcinoma growth and metastasis via the ERBB-PI3K-AKT pathway.10
319974892020Epithelial V-like antigen 1 promotes hepatocellular carcinoma growth and metastasis via the ERBB-PI3K-AKT pathway.10
299829802018MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.11
299829802018MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.11
266779762016Eva1 Maintains the Stem-like Character of Glioblastoma-Initiating Cells by Activating the Noncanonical NF-κB Signaling Pathway.24

Citation

Dessen P

MPZL2 (myelin protein zero like 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56516/js/favicon/case-report-explorer/