Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	54808
Gene name Gene Name - the full gene name approved by the HGNC.	Dymeclin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DYM
Synonyms (NCBI Gene) Gene synonyms aliases	DMC, SMC
Chromosome Chromosome number	18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	18q21.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein which regulates Golgi-associated secretory pathways that are essential to endochondral bone formation during early development. This gene is also believed to play a role in early brain development. This gene is widely expressed

Show/Hide all(22)

SNP ID	Visualize variation	Clinical significance	Consequence
rs120074161	G>A,C	Pathogenic	Synonymous variant, stop gained, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs120074162	A>G,T	Pathogenic	Intron variant, synonymous variant, stop gained, coding sequence variant, non coding transcript variant
rs120074163	T>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs120074165	A>G	Pathogenic	Intron variant, coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs146000214	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs148059981	C>T	Likely-pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs150849326	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs201652921	A>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs557407004	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs763380940	G>A,C,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained, missense variant
rs768509996	G>A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs771414481	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs775414124	T>C	Pathogenic	Intron variant, splice acceptor variant
rs775696326	T>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, intron variant, coding sequence variant
rs786205511	C>T	Likely-pathogenic	Splice donor variant, intron variant, genic downstream transcript variant
rs786205512	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs786205513	G>C	Likely-pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs794727290	A>-	Pathogenic	Non coding transcript variant, frameshift variant, 5 prime UTR variant, coding sequence variant
rs1568119124	C>T	Pathogenic	Splice acceptor variant
rs1568264929	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs1568319747	T>C	Pathogenic	Splice acceptor variant, intron variant
rs1600192503	->A	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, non coding transcript variant

Show/Hide all(37)

miRTarBase ID	miRNA	Experiments	Reference
MIRT036569	hsa-miR-941	CLASH	23622248
MIRT668654	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT668653	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT668652	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT668651	hsa-miR-223-5p	HITS-CLIP	23824327
MIRT668650	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT668649	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT668648	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT668647	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT668646	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT668645	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT668644	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT668643	hsa-miR-507	HITS-CLIP	23824327
MIRT668642	hsa-miR-557	HITS-CLIP	23824327
MIRT668641	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT668640	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT668654	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT668653	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT668652	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT668651	hsa-miR-223-5p	HITS-CLIP	23824327
MIRT668650	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT668649	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT668648	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT668647	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT668646	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT668645	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT668644	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT668643	hsa-miR-507	HITS-CLIP	23824327
MIRT668642	hsa-miR-557	HITS-CLIP	23824327
MIRT668641	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT668640	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT948803	hsa-miR-1238	CLIP-seq
MIRT948804	hsa-miR-4682	CLIP-seq
MIRT2216239	hsa-miR-29a	CLIP-seq
MIRT2216240	hsa-miR-29b	CLIP-seq
MIRT2216241	hsa-miR-29c	CLIP-seq
MIRT2216242	hsa-miR-515-5p	CLIP-seq

Show/Hide all(11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21280149
GO:0005737	Component	Cytoplasm	IDA	21280149
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	21280149
GO:0005794	Component	Golgi apparatus	IEA
GO:0007030	Process	Golgi organization	IBA
GO:0007030	Process	Golgi organization	IMP	21280149
GO:0016020	Component	Membrane	IEA
GO:0019899	Function	Enzyme binding	IPI	21280149
GO:0060348	Process	Bone development	IMP	21280149

MIM	HGNC	e!Ensembl
607461	21317	ENSG00000141627

Protein

UniProt ID

Q7RTS9

Protein name

Dymeclin (Dyggve-Melchior-Clausen syndrome protein)

Protein function

Necessary for correct organization of Golgi apparatus. Involved in bone development.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09742	Dymeclin	1 → 646		Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in most embryo-fetal and adult tissues. Abundant in primary chondrocytes, osteoblasts, cerebellum, kidney, lung, stomach, heart, pancreas and fetal brain. Very low or no expression in the spleen, thymus, esophagus, bladder an

Sequence

MGSNSSRIGDLPKNEYLKKLSGTESISENDPFWNQLLSFSFPAPTSSSELKLLEEATISV
CRSLVENNPRTGNLGALIKVFLSRTKELKLSAECQNHIFIWQTHNALFIICCLLKVFICQ
MSEEELQLHFTYEEKSPGNYSSDSEDLLEELLCCLMQLITDIPLLDITYEISVEAISTMV
VFLSCQLFHKEVLRQSISHKYLMRGPCLPYTSKLVKTLLYNFIRQEKPPPPGAHVFPQQS
DGGGLLYGLASGVATGLWTVFTLGGVGSKAAASPELSSPLANQSLLLLLVLANLTDASDA
PNPYRQAIMSFKNTQDSSPFPSSIPHAFQINFNSLYTALCEQQTSDQATLLLYTLLHQNS
NIRTYMLARTDMENLVLPILEILYHVEERNSHHVYMALIILLILTEDDGFNRSIHEVILK
NITWYSERVLTEISLGSLLILVVIRTIQYNMTRTRDKYLHTNCLAALANMSAQFRSLHQY
AAQRIISLFSLLSKKHNKVLEQATQSLRGSLSSNDVPLPDYAQDLNVIEEVIRMMLEIIN
SCLTNSLHHNPNLVYALLYKRDLFEQFRTHPSFQDIMQNIDLVISFFSSRLLQAGAELSV
ERVLEIIKQGVVALPKDRLKKFPELKFKYVEEEQPEEFFIPYVWSLVYNSAVGLYWNPQD
IQLFTMDSD

Sequence length

669

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Dyggve-Melchior-Clausen Disease	dyggve-melchior-clausen syndrome	rs120074161, rs775414124, rs1568264929, rs768509996, rs120074162, rs1600192503, rs120074163, rs1568119124, rs1471488189, rs1568319747, rs786205511	N/A
Smith-McCort Dysplasia	smith-mccort dysplasia 1	rs775414124, rs120074164, rs120074165	N/A

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Connective Tissue Disease	Connective tissue disorder	N/A	N/A	ClinVar
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Dental caries	Dental caries	N/A	N/A	GWAS
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Crohn Disease	Associate	20846217
Diabetes Gestational	Associate	37836571
Dyggve Melchior Clausen syndrome	Associate	15726110, 16326827, 18996921, 36833437, 40428312
Dyslexia	Associate	21060895
Growth Disorders	Associate	20846217
Intellectual Disability	Associate	15726110
Spondyloepimetaphyseal Dysplasia X Linked	Associate	15726110
Urinary Bladder Neoplasms	Associate	35769470
Vitiligo	Associate	35380061

DYM (dymeclin)