MARVELD2

GENERAL INFORMATION

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Gene name

MARVELD2

Gene description

MARVEL domain containing 2

Protein class

Disease related genes
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

6
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (thyroid gland)
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic and membranous expression with additional immune cells.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA018119
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (thyroid gland)

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



GENE INFORMATION

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Gene name

MARVELD2 (HGNC Symbol)

Synonyms

DFNB49, FLJ30532, MRVLDC2, TRIC

Description

MARVEL domain containing 2 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

Chromosome

5

Cytoband

q13.2

Chromosome location (bp)

69415112 - 69444330

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000152939 (version 78.38)

Entrez gene

153562

UniProt

Q8N4S9 (UniProt - Evidence at protein level)

neXtProt

NX_Q8N4S9

Antibodypedia

MARVELD2 antibodies


PROTEIN BROWSER

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ENST00000325631
 
ENST00000413223
 
ENST00000436532
 
ENST00000454295
 
ENST00000512803
 
ENST00000515844
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MARVELD2-002 ENSP00000396244
ENST00000454295
Q8N4S9
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Show » Show » 546 62.8 No 4
MARVELD2-003 ENSP00000414776
ENST00000436532
A1BQX2
Show all »
Show » 442 51.1 No 2
MARVELD2-004 ENSP00000423490
ENST00000512803
D6RA09
Show all »
Show » Show » 516 59 No 4
MARVELD2-006 ENSP00000323264
ENST00000325631
Q8N4S9
Show all »
Show » Show » 558 64.2 No 4
MARVELD2-007 ENSP00000421902
ENST00000515844
D6RAH8
Show all »
Show » 145 16.3 No 0
MARVELD2-201 ENSP00000398922
ENST00000413223
A1BQX2
Show all »
Show » 442 51.1 No 2