Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	10205
Gene name	Myelin protein zero like 2
Gene symbol	MPZL2
Synonyms (NCBI Gene)	DFNB111EVAEVA1
Chromosome	11
Chromosome location	11q23.3
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.

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs146689036	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs752672077	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs759432278	C>-	Pathogenic	Coding sequence variant, frameshift variant

103

Show/Hide all (103)

miRTarBase ID	miRNA	Experiments
MIRT1157289	hsa-miR-1226	CLIP-seq
MIRT1157290	hsa-miR-1264	CLIP-seq
MIRT1157291	hsa-miR-1273e	CLIP-seq
MIRT1157292	hsa-miR-1283	CLIP-seq
MIRT1157293	hsa-miR-141	CLIP-seq
MIRT1157294	hsa-miR-142-3p	CLIP-seq
MIRT1157295	hsa-miR-145	CLIP-seq
MIRT1157296	hsa-miR-149	CLIP-seq
MIRT1157297	hsa-miR-190	CLIP-seq
MIRT1157298	hsa-miR-190b	CLIP-seq
MIRT1157299	hsa-miR-197	CLIP-seq
MIRT1157300	hsa-miR-200a	CLIP-seq
MIRT1157301	hsa-miR-219-1-3p	CLIP-seq
MIRT1157302	hsa-miR-2276	CLIP-seq
MIRT1157303	hsa-miR-2467-5p	CLIP-seq
MIRT1157304	hsa-miR-298	CLIP-seq
MIRT1157305	hsa-miR-300	CLIP-seq
MIRT1157306	hsa-miR-3148	CLIP-seq
MIRT1157307	hsa-miR-3158-5p	CLIP-seq
MIRT1157308	hsa-miR-3188	CLIP-seq
MIRT1157309	hsa-miR-361-3p	CLIP-seq
MIRT1157310	hsa-miR-3617	CLIP-seq
MIRT1157311	hsa-miR-3667-5p	CLIP-seq
MIRT1157312	hsa-miR-3689a-5p	CLIP-seq
MIRT1157313	hsa-miR-3689b	CLIP-seq
MIRT1157314	hsa-miR-3689e	CLIP-seq
MIRT1157315	hsa-miR-3689f	CLIP-seq
MIRT1157316	hsa-miR-381	CLIP-seq
MIRT1157317	hsa-miR-3975	CLIP-seq
MIRT1157318	hsa-miR-3978	CLIP-seq
MIRT1157319	hsa-miR-4282	CLIP-seq
MIRT1157320	hsa-miR-4299	CLIP-seq
MIRT1157321	hsa-miR-4517	CLIP-seq
MIRT1157322	hsa-miR-4666-3p	CLIP-seq
MIRT1157323	hsa-miR-4691-5p	CLIP-seq
MIRT1157324	hsa-miR-4714-5p	CLIP-seq
MIRT1157325	hsa-miR-4728-3p	CLIP-seq
MIRT1157326	hsa-miR-4733-3p	CLIP-seq
MIRT1157327	hsa-miR-4766-5p	CLIP-seq
MIRT1157328	hsa-miR-4772-3p	CLIP-seq
MIRT1157329	hsa-miR-4802-5p	CLIP-seq
MIRT1157330	hsa-miR-485-5p	CLIP-seq
MIRT1157331	hsa-miR-5096	CLIP-seq
MIRT1157332	hsa-miR-520a-5p	CLIP-seq
MIRT1157333	hsa-miR-525-5p	CLIP-seq
MIRT1157334	hsa-miR-561	CLIP-seq
MIRT1157335	hsa-miR-562	CLIP-seq
MIRT1157336	hsa-miR-582-3p	CLIP-seq
MIRT1157337	hsa-miR-587	CLIP-seq
MIRT1157338	hsa-miR-609	CLIP-seq
MIRT1157339	hsa-miR-622	CLIP-seq
MIRT1157340	hsa-miR-641	CLIP-seq
MIRT1157341	hsa-miR-765	CLIP-seq
MIRT1157342	hsa-miR-875-3p	CLIP-seq
MIRT1157343	hsa-miR-885-5p	CLIP-seq
MIRT1157295	hsa-miR-145	CLIP-seq
MIRT2045060	hsa-miR-25	CLIP-seq
MIRT2045061	hsa-miR-3140-3p	CLIP-seq
MIRT2045062	hsa-miR-32	CLIP-seq
MIRT2045063	hsa-miR-363	CLIP-seq
MIRT2045064	hsa-miR-367	CLIP-seq
MIRT1157319	hsa-miR-4282	CLIP-seq
MIRT2045065	hsa-miR-4325	CLIP-seq
MIRT2045066	hsa-miR-4328	CLIP-seq
MIRT1157321	hsa-miR-4517	CLIP-seq
MIRT1157325	hsa-miR-4728-3p	CLIP-seq
MIRT2045067	hsa-miR-4742-3p	CLIP-seq
MIRT2045068	hsa-miR-548a-3p	CLIP-seq
MIRT2045069	hsa-miR-548e	CLIP-seq
MIRT2045070	hsa-miR-548f	CLIP-seq
MIRT2045071	hsa-miR-92a	CLIP-seq
MIRT2045072	hsa-miR-92b	CLIP-seq
MIRT1157289	hsa-miR-1226	CLIP-seq
MIRT1157294	hsa-miR-142-3p	CLIP-seq
MIRT1157299	hsa-miR-197	CLIP-seq
MIRT2045060	hsa-miR-25	CLIP-seq
MIRT2045061	hsa-miR-3140-3p	CLIP-seq
MIRT2274263	hsa-miR-3140-5p	CLIP-seq
MIRT2045062	hsa-miR-32	CLIP-seq
MIRT2045063	hsa-miR-363	CLIP-seq
MIRT2045064	hsa-miR-367	CLIP-seq
MIRT1157319	hsa-miR-4282	CLIP-seq
MIRT2045065	hsa-miR-4325	CLIP-seq
MIRT2045066	hsa-miR-4328	CLIP-seq
MIRT2274264	hsa-miR-4711-3p	CLIP-seq
MIRT1157326	hsa-miR-4733-3p	CLIP-seq
MIRT1157331	hsa-miR-5096	CLIP-seq
MIRT2045068	hsa-miR-548a-3p	CLIP-seq
MIRT2045069	hsa-miR-548e	CLIP-seq
MIRT2045070	hsa-miR-548f	CLIP-seq
MIRT2274265	hsa-miR-582-5p	CLIP-seq
MIRT2045071	hsa-miR-92a	CLIP-seq
MIRT2045072	hsa-miR-92b	CLIP-seq
MIRT2572972	hsa-miR-30a	CLIP-seq
MIRT2572973	hsa-miR-30b	CLIP-seq
MIRT2572974	hsa-miR-30c	CLIP-seq
MIRT2572975	hsa-miR-30d	CLIP-seq
MIRT2572976	hsa-miR-30e	CLIP-seq
MIRT2572972	hsa-miR-30a	CLIP-seq
MIRT2572973	hsa-miR-30b	CLIP-seq
MIRT2572974	hsa-miR-30c	CLIP-seq
MIRT2572975	hsa-miR-30d	CLIP-seq
MIRT2572976	hsa-miR-30e	CLIP-seq

Show/Hide all (8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21982860
GO:0005856	Component	Cytoskeleton	TAS	9585423
GO:0005886	Component	Plasma membrane	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	TAS	9585423
GO:0009653	Process	Anatomical structure morphogenesis	TAS	9585423
GO:0016020	Component	Membrane	IEA
GO:0098609	Process	Cell-cell adhesion	IBA

MIM	HGNC	e!Ensembl
604873	3496	ENSG00000149573

O60487

Protein name

Myelin protein zero-like protein 2 (Epithelial V-like antigen 1)

Protein function

Mediates homophilic cell-cell adhesion.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07686	V-set	30 → 143	Immunoglobulin V-set domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. In fetal tissues, highest expression in the inner ear. In adult tissues, highest levels in thymus and lung. {ECO:0000269|PubMed:29961571}.

Sequence

MYGKSSTRAVLLLLGIQLTALWPIAAVEIYTSRVLEAVNGTDARLKCTFSSFAPVGDALT
VTWNFRPLDGGPEQFVFYYHIDPFQPMSGRFKDRVSWDGNPERYDASILLWKLQFDDNGT
YTCQVKNPPDVDGVIGEIRLSVVHTVRFSEIHFLALAIGSACALMIIIVIVVVLFQHYRK
KRWAERAHKVVEIKSKEEERLNQEKKVSVYLEDTD

Sequence length

215

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs752672077	RCV004719039	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive 111	Likely pathogenic; Pathogenic	rs2134734280, rs200462584, rs1167608859, rs748685997, rs746218761, rs145401372, rs777960413, rs752672077, rs146689036, rs759432278, rs1949708829	RCV001733630 RCV001782454 RCV002283788 RCV002467365 RCV003155567 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MPZL2-related disorder	Likely pathogenic; Pathogenic	rs775609064, rs752672077	RCV003899879 RCV003965455	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 111	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (37)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASCAT_DG	28604730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	23162105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	19054061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	14694358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	14694358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	14694358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20177029		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28216417	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	30012816, 30621529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	38254107	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	9974420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	9974420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	9974420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	32203226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive	Deafness	Pubtator	38254107	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 111	Deafness	GENOMICS_ENGLAND_DG	29961571		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 111	Deafness	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	BEFREE	10492731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26677976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35418162	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26677976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	38254107	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	38254107	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	24224479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	10794851, 9748018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35249471	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35717579	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20177029		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	14694358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	29961571, 29982980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	23162105, 26427697		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	23162105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	10492731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	29734063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	24224479, 24245694, 29982980, 31124731		★★★★★ ★☆☆☆☆ Found in Text Mining only

MPZL2 (myelin protein zero like 2)