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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10205
Gene name Gene Name - the full gene name approved by the HGNC.	Myelin protein zero like 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MPZL2
Synonyms (NCBI Gene) Gene synonyms aliases	DFNB111, EVA, EVA1
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q23.3
Summary Summary of gene provided in NCBI Entrez 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.

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

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

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hearing Loss	Hearing loss, autosomal recessive 111, Hearing loss, autosomal recessive	rs752672077, rs146689036, rs759432278	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Crohn Disease	Crohn's disease	N/A	N/A	GWAS
Lung adenocarcinoma	Lung adenocarcinoma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency	Associate	38254107
Breast Neoplasms	Associate	28216417
Congenital Abnormalities	Associate	38254107
Deafness	Associate	32203226
Deafness Autosomal Recessive	Associate	38254107
Glioblastoma	Associate	35418162
Hearing Loss	Associate	38254107
Hearing Loss Sensorineural	Associate	38254107
Infections	Associate	35403229
Leukemia Myeloid Acute	Associate	35249471
Lung Neoplasms	Associate	35717579
Nonsyndromic sensorineural hearing loss	Associate	38254107

MPZL2 (myelin protein zero like 2)