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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54808
Gene name	Dymeclin
Gene symbol	DYM
Synonyms (NCBI Gene)	DMCSMC
Chromosome	18
Chromosome location	18q21.1
Summary	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

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

168

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Dyggve-Melchior-Clausen syndrome	Pathogenic; Likely pathogenic	rs767767037, rs2087482291, rs2087496511, rs2087498329, rs2095000244, rs2063332964, rs2148459355, rs2074694091, rs2147362866, rs2517730377, rs120074161, rs1568264929, rs120074162, rs120074163, rs1568119124 View all (14 more)	RCV001328005 RCV001352909 RCV001352908 RCV001352905 RCV001352911 RCV001352910 RCV001391227 RCV002250771 RCV002227914 RCV002281596 RCV000003334 RCV000003335 RCV000003336 RCV000003337 RCV000003341 RCV000003342 RCV000003343 RCV003987403 RCV000003339 RCV003326703 RCV003493995 RCV003494001 RCV003340804 RCV004577077 RCV001591181 RCV001004617 RCV001358802 RCV001262584 RCV001280803
DYM-related disorder	Pathogenic; Likely pathogenic	rs120074164, rs567638775	RCV004758589 RCV004035398
Smith-McCort dysplasia 1	Likely pathogenic; Pathogenic	rs120074162, rs120074164, rs120074165, rs775414124	RCV002482820 RCV000003340 RCV000003344 RCV000003338

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Connective tissue disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs780336634, rs759683937, rs201652921, rs61729806, rs35357262, rs60818038, rs16950519, rs111744206	RCV002278715 RCV002278716 RCV002278306 RCV002278500 RCV002278501 RCV002278499 RCV002278502 RCV002278503
DYM-Related Skeletal Dysplasia Syndrome	Conflicting classifications of pathogenicity	rs145408029	RCV006442458
Hepatocellular carcinoma	Benign	rs79958143	RCV005914625
Malignant lymphoma, large B-cell, diffuse	Benign	rs79958143	RCV005914626
Prostate cancer	Uncertain significance	rs193921113	RCV000149245
Schizophrenia	Uncertain significance	rs2518148157	RCV002463527
Smith-McCort dysplasia	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs77902523, rs145279594, rs146000214, rs370290857, rs201023000, rs370414289, rs61729806, rs35357262, rs886053847, rs886053848, rs547563112, rs886053852, rs113500346, rs60818038, rs775476671 View all (21 more)	RCV000297024 RCV000336606 RCV000321281 RCV000317373 RCV000360438 RCV000334825 RCV000340550 RCV000305151 RCV000306305 RCV000283427 RCV000343061 RCV000261717 RCV000287578 RCV000381595 RCV000357801 RCV000327995 RCV000372208 RCV000350522 RCV000345938 RCV000315286 RCV000405928 RCV000357111 RCV000329327 RCV000326840 RCV000272862 RCV000402458 RCV000318563 RCV000369169 RCV000351589 RCV000292810 RCV000279749 RCV000344687 RCV000309714 RCV000260387 RCV000376302 RCV000268340
Thymoma	Benign	rs79958143	RCV005914627

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)