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Field

Term
Gene name

Class

Subclass

Chromosome

External id

In atlas

Reliability

Reliability

Reliability

Validation

Method

Validation

Method

Validation

Method

Validation

Location

Searches

Tissue

Cell type

Expression

Tissue

Specificity

Cell line

Specificity

Tissue

Detectable

Cell line

Detectable

Category

Score

Score

Score

Antibodies

Column

 
 
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DYM
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TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

GENERAL INFORMATION

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
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

Evidence at protein level

Protein expression

General granular cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

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

Reliability score

Approved based on 1 antibody.
HPA043551
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM) Protein expression (score)
Brain
Cerebral cortex
Hippocampus
N/A
Caudate
N/A
Cerebellum
N/A
Endocrine tissues
Thyroid gland
Parathyroid gland
Adrenal gland
Bone marrow & immune system
Appendix
Bone marrow
Lymph node
Tonsil
Spleen
Muscle tissues
Heart muscle
Skeletal muscle
Smooth muscle
Lung
Nasopharynx
N/A
Bronchus
N/A
Lung
Liver & gallbladder
Liver
Gallbladder
Pancreas
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
Salivary gland
Esophagus
Stomach
Duodenum
Small intestine
Colon
Rectum
Kidney & urinary bladder
Kidney
Urinary bladder
Male tissues
Testis
Epididymis
Prostate
Seminal vesicle
Female tissues
Breast
Vagina
N/A
Cervix, uterine
Endometrium
Fallopian tube
Ovary
Placenta
Adipose & soft tissue
Adipose tissue
Soft tissue
N/A
Skin
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW

Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW

HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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 83.38)

Entrez gene

54808

UniProt

Q7RTS9 (UniProt - Evidence at protein level)

neXtProt

NX_Q7RTS9

Antibodypedia

DYM antibodies

PROTEIN BROWSER

DYM-001
DYM-002
DYM-003
DYM-006
DYM-007
DYM-008
DYM-009
DYM-010
DYM-012
DYM-018

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DYM-001
ENSP00000269445
ENST00000269445
Q7RTS9 [Direct mapping]
Dymeclin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0007030 [Golgi organization]
GO:0019899 [enzyme binding]
GO:0060348 [bone development]
Show all
669 aa
75.9 kDa
No 1
DYM-002
ENSP00000395942
ENST00000442713
Q7RTS9 [Direct mapping]
Dymeclin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0007030 [Golgi organization]
GO:0019899 [enzyme binding]
GO:0060348 [bone development]
Show all
479 aa
54.4 kDa
No 1
DYM-003
ENSP00000462657
ENST00000582399
J3KSU8 [Direct mapping]
Dymeclin
Show all
   SCAMPI predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
122 aa
14 kDa
No 0
DYM-006
ENSP00000464089
ENST00000583353
J3QR81 [Direct mapping]
Dymeclin
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
109 aa
12.2 kDa
No 0
DYM-007
ENSP00000464183
ENST00000581738
J3QRF2 [Direct mapping]
Dymeclin
Show all
   MEMSAT3 predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
142 aa
15.3 kDa
No 0
DYM-008
ENSP00000462466
ENST00000583280
J3KSF9 [Direct mapping]
Dymeclin
Show all
   MEMSAT3 predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
139 aa
15 kDa
No 0
DYM-009
ENSP00000464653
ENST00000583225
J3QSE7 [Direct mapping]
Dymeclin
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
141 aa
15.3 kDa
No 0
DYM-010
ENSP00000461989
ENST00000584983
J3KRG4 [Direct mapping]
Dymeclin
Show all
   MEMSAT3 predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
163 aa
17.7 kDa
No 0
DYM-012
ENSP00000463892
ENST00000578396
J3QQT7 [Direct mapping]
Dymeclin
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
116 aa
13 kDa
No 0
DYM-018
ENSP00000464163
ENST00000577734
J3QRD8 [Direct mapping]
Dymeclin
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
67 aa
7.3 kDa
No 0

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