DYM

GENERAL INFORMATION

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Gene name

DYM

Gene description

Dymeclin

Protein class

Disease related genes
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

10
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General granular cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data. Pending external verification.

Data reliability

Uncertain based on 1 antibody.
HPA043551
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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
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:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

DYM (HGNC Symbol)

Synonyms

DMC, FLJ20071, SMC

Description

Dymeclin (HGNC Symbol)

Entrez gene summary

This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation. [provided by RefSeq, Jul 2008]

Chromosome

18

Cytoband

q21.1

Chromosome location (bp)

49041474 - 49461347

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000141627 (version 78.38)

Entrez gene

54808

UniProt

Q7RTS9 (UniProt - Evidence at protein level)

neXtProt

NX_Q7RTS9

Antibodypedia

DYM antibodies


PROTEIN BROWSER

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ENST00000269445
 
ENST00000442713
 
ENST00000577734
 
ENST00000578396
 
ENST00000581738
 
ENST00000582399
 
ENST00000583225
 
ENST00000583280
 
ENST00000583353
 
ENST00000584983
 
 
 
 


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)

DYM-001 ENSP00000269445
ENST00000269445
Q7RTS9
Show all »
Show » Show » 669 75.9 No 1
DYM-002 ENSP00000395942
ENST00000442713
Q7RTS9
Show all »
Show » Show » 479 54.4 No 1
DYM-003 ENSP00000462657
ENST00000582399
A5XEI3
Show all »
Show » 122 14 No 0
DYM-006 ENSP00000464089
ENST00000583353
J3QR81
Show all »
Show » 109 12.2 No 0
DYM-007 ENSP00000464183
ENST00000581738
J3QRF2
Show all »
Show » 142 15.3 No 0
DYM-008 ENSP00000462466
ENST00000583280
J3KSF9
Show all »
Show » 139 15 No 0
DYM-009 ENSP00000464653
ENST00000583225
J3QSE7
Show all »
Show » 141 15.3 No 0
DYM-010 ENSP00000461989
ENST00000584983
J3KRG4
Show all »
Show » 163 17.7 No 0
DYM-012 ENSP00000463892
ENST00000578396
J3QQT7
Show all »
Show » 116 13 No 0
DYM-018 ENSP00000464163
ENST00000577734
Show » 67 7.3 No 0