MARVELD2 (MARVEL domain containing 2)

2012-01-01 Affiliation

Identity

HGNC

MARVELD2

LOCATION

5q13.2

LOCUSID

153562

ALIAS

DFNB49,MARVD2,MRVLDC2,Tric

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 153562
MIM: 610572
HGNC: 26401
Ensembl: ENSG00000152939

Variants:

dbSNP: 153562
ClinVar: 153562
TCGA: ENSG00000152939
COSMIC: MARVELD2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000152939	ENST00000325631	Q8N4S9
ENSG00000152939	ENST00000413223	A1BQX2
ENSG00000152939	ENST00000436532	A1BQX2
ENSG00000152939	ENST00000454295	Q8N4S9
ENSG00000152939	ENST00000512803	D6RA09
ENSG00000152939	ENST00000515844	D6RAH8
ENSG00000152939	ENST00000645446	Q8N4S9
ENSG00000152939	ENST00000647531	Q8N4S9

Expression (GTEx)

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

Pathways

Pathway	Source	External ID
Tight junction	KEGG	ko04530
Tight junction	KEGG	hsa04530

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
36921056	2023	Structural basis of plp2-mediated cytoskeletal protein folding by TRiC/CCT.	5
37929963	2023	SARS-CoV-2 NSP12 associates with TRiC and the P323L substitution acts as a host adaption.	3
36921056	2023	Structural basis of plp2-mediated cytoskeletal protein folding by TRiC/CCT.	5
37929963	2023	SARS-CoV-2 NSP12 associates with TRiC and the P323L substitution acts as a host adaption.	3
33000262	2020	Association of tricellulin expression with poor colorectal cancer prognosis and metastasis.	2
33015857	2020	Co-occurrence of two rare genetic diseases: A potential pitfall for prenatal diagnosis in successive pregnancies.	0
33000262	2020	Association of tricellulin expression with poor colorectal cancer prognosis and metastasis.	2
33015857	2020	Co-occurrence of two rare genetic diseases: A potential pitfall for prenatal diagnosis in successive pregnancies.	0
29752989	2019	A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.	4
29752989	2019	A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.	4
28612843	2018	Tricellulin is regulated via interleukin-13-receptor α2, affects macromolecule uptake, and is decreased in ulcerative colitis.	41
29659773	2018	Gut Barrier Dysfunction-A Primary Defect in Twins with Crohn's Disease Predominantly Caused by Genetic Predisposition.	19
28612843	2018	Tricellulin is regulated via interleukin-13-receptor α2, affects macromolecule uptake, and is decreased in ulcerative colitis.	41
29659773	2018	Gut Barrier Dysfunction-A Primary Defect in Twins with Crohn's Disease Predominantly Caused by Genetic Predisposition.	19
28436082	2017	Tricellulin is a target of the ubiquitin ligase Itch.	5

Citation

Dessen P

MARVELD2 (MARVEL domain containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-01-01

Online version: http://atlasgeneticsoncology.org/gene/52554/css/template-nav.css