DYM

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 VIEW

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

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