DYNC1I2 (dynein cytoplasmic 1 intermediate chain 2)

Download as csv Download as pdf

Log in to bookmark this gene

Bookmark This Gene

Title Project / Tag (optional) Note (optional)

Cancel Save

On this page

Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 1781
• Gene name: Dynein cytoplasmic 1 intermediate chain 2
• Gene symbol: DYNC1I2
• Synonyms (NCBI Gene): DIC74, DNCI2, IC2, NEDMIBA
• Chromosome: 2
• Chromosome location: 2q31.1
• Summary: This gene encodes a member of the dynein intermediate chain family. The encoded protein is a non-catalytic component of the cytoplasmic dynein 1 complex, which acts as a retrograde microtubule motor to transport organelles and vesicles. A pseudogene of th

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs752940799	A>G	Pathogenic	Coding sequence variant, missense variant
rs1574594051	G>A	Pathogenic	Splice donor variant
rs1574596084	C>T	Pathogenic	Stop gained, coding sequence variant

miRNA Show/Hide all (87)

miRTarBase ID	miRNA	Experiments	Reference
MIRT036037	hsa-miR-1301-3p	CLASH	23622248
MIRT704094	hsa-miR-3129-3p	HITS-CLIP	23313552
MIRT704093	hsa-miR-5583-5p	HITS-CLIP	23313552
MIRT704092	hsa-miR-496	HITS-CLIP	23313552
MIRT704091	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT704090	hsa-miR-3924	HITS-CLIP	23313552
MIRT704094	hsa-miR-3129-3p	HITS-CLIP	23313552
MIRT704093	hsa-miR-5583-5p	HITS-CLIP	23313552
MIRT704092	hsa-miR-496	HITS-CLIP	23313552
MIRT704091	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT704090	hsa-miR-3924	HITS-CLIP	23313552
MIRT948812	hsa-miR-146a	CLIP-seq
MIRT948813	hsa-miR-146b-5p	CLIP-seq
MIRT948814	hsa-miR-298	CLIP-seq
MIRT948815	hsa-miR-3115	CLIP-seq
MIRT948816	hsa-miR-3132	CLIP-seq
MIRT948817	hsa-miR-3174	CLIP-seq
MIRT948818	hsa-miR-3662	CLIP-seq
MIRT948819	hsa-miR-410	CLIP-seq
MIRT948820	hsa-miR-425	CLIP-seq
MIRT948821	hsa-miR-4471	CLIP-seq
MIRT948822	hsa-miR-4679	CLIP-seq
MIRT948823	hsa-miR-4719	CLIP-seq
MIRT948824	hsa-miR-4742-3p	CLIP-seq
MIRT948825	hsa-miR-568	CLIP-seq
MIRT948826	hsa-miR-589	CLIP-seq
MIRT948827	hsa-miR-642b	CLIP-seq
MIRT948828	hsa-miR-921	CLIP-seq
MIRT1548100	hsa-miR-3173-3p	CLIP-seq
MIRT1548101	hsa-miR-4428	CLIP-seq
MIRT1548102	hsa-miR-4521	CLIP-seq
MIRT1548103	hsa-miR-4802-3p	CLIP-seq
MIRT1548104	hsa-miR-490-5p	CLIP-seq
MIRT1548105	hsa-miR-586	CLIP-seq
MIRT1981178	hsa-miR-1266	CLIP-seq
MIRT1981179	hsa-miR-142-5p	CLIP-seq
MIRT1981180	hsa-miR-340	CLIP-seq
MIRT1981181	hsa-miR-3653	CLIP-seq
MIRT1981182	hsa-miR-3658	CLIP-seq
MIRT1981183	hsa-miR-3664-3p	CLIP-seq
MIRT948819	hsa-miR-410	CLIP-seq
MIRT1981184	hsa-miR-4474-5p	CLIP-seq
MIRT1981185	hsa-miR-4475	CLIP-seq
MIRT1981186	hsa-miR-4511	CLIP-seq
MIRT1981187	hsa-miR-4518	CLIP-seq
MIRT948823	hsa-miR-4719	CLIP-seq
MIRT948824	hsa-miR-4742-3p	CLIP-seq
MIRT1981188	hsa-miR-548b-3p	CLIP-seq
MIRT948825	hsa-miR-568	CLIP-seq
MIRT948827	hsa-miR-642b	CLIP-seq
MIRT948823	hsa-miR-4719	CLIP-seq
MIRT948827	hsa-miR-642b	CLIP-seq
MIRT2216252	hsa-miR-656	CLIP-seq
MIRT1548103	hsa-miR-4802-3p	CLIP-seq
MIRT1548104	hsa-miR-490-5p	CLIP-seq
MIRT1981178	hsa-miR-1266	CLIP-seq
MIRT2520233	hsa-miR-1273d	CLIP-seq
MIRT1981179	hsa-miR-142-5p	CLIP-seq
MIRT2520234	hsa-miR-299-5p	CLIP-seq
MIRT1981180	hsa-miR-340	CLIP-seq
MIRT1981183	hsa-miR-3664-3p	CLIP-seq
MIRT948819	hsa-miR-410	CLIP-seq
MIRT1981184	hsa-miR-4474-5p	CLIP-seq
MIRT1981185	hsa-miR-4475	CLIP-seq
MIRT1981187	hsa-miR-4518	CLIP-seq
MIRT948823	hsa-miR-4719	CLIP-seq
MIRT2520235	hsa-miR-4729	CLIP-seq
MIRT2520236	hsa-miR-502-5p	CLIP-seq
MIRT2520237	hsa-miR-513a-3p	CLIP-seq
MIRT948827	hsa-miR-642b	CLIP-seq
MIRT2520238	hsa-miR-944	CLIP-seq
MIRT1981178	hsa-miR-1266	CLIP-seq
MIRT2520233	hsa-miR-1273d	CLIP-seq
MIRT1981179	hsa-miR-142-5p	CLIP-seq
MIRT2520234	hsa-miR-299-5p	CLIP-seq
MIRT1981180	hsa-miR-340	CLIP-seq
MIRT1981183	hsa-miR-3664-3p	CLIP-seq
MIRT948819	hsa-miR-410	CLIP-seq
MIRT1981184	hsa-miR-4474-5p	CLIP-seq
MIRT1981185	hsa-miR-4475	CLIP-seq
MIRT1981187	hsa-miR-4518	CLIP-seq
MIRT948823	hsa-miR-4719	CLIP-seq
MIRT2520235	hsa-miR-4729	CLIP-seq
MIRT2520236	hsa-miR-502-5p	CLIP-seq
MIRT2520237	hsa-miR-513a-3p	CLIP-seq
MIRT948827	hsa-miR-642b	CLIP-seq
MIRT2520238	hsa-miR-944	CLIP-seq

Gene ontology (GO) Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003777	Function	Microtubule motor activity	NAS	8522607
GO:0005515	Function	Protein binding	IPI	16189514, 24986880, 25416956, 31515488, 32296183, 33961781, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	8522607
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005868	Component	Cytoplasmic dynein complex	IBA
GO:0005868	Component	Cytoplasmic dynein complex	IEA
GO:0005868	Component	Cytoplasmic dynein complex	IPI	24986880
GO:0005874	Component	Microtubule	IDA	21525035
GO:0005874	Component	Microtubule	IEA
GO:0007018	Process	Microtubule-based movement	IEA
GO:0007018	Process	Microtubule-based movement	NAS	8522607
GO:0010970	Process	Transport along microtubule	IBA
GO:0030286	Component	Dynein complex	IEA
GO:0031982	Component	Vesicle	IDA	20682791
GO:0032388	Process	Positive regulation of intracellular transport	NAS	33957056
GO:0045503	Function	Dynein light chain binding	IBA
GO:0045504	Function	Dynein heavy chain binding	IBA

Other IDs

• MIM: 603331
• HGNC: 2964
• e!Ensembl: ENSG00000077380

Protein

• UniProt ID: Q13409
• Protein name: Cytoplasmic dynein 1 intermediate chain 2 (Cytoplasmic dynein intermediate chain 2) (Dynein intermediate chain 2, cytosolic) (DH IC-2)
• Protein function: Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function (PubMed:31079899). Cytoplasmic dynein
• PDB: 5JPW , 6F1T , 6F1U , 6F1Z , 6F38 , 6F3A , 7Z8F , 7Z8I , 7Z8J , 7Z8K , 8PQW , 8PQZ , 8PR0 , 8PR1 , 8PR2 , 8PR3 , 8PTK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	468 → 510	WD domain, G-beta repeat	Repeat
  PF11540	Dynein_IC2	133 → 163	Cytoplasmic dynein 1 intermediate chain 2	Family

• Sequence:

  MSDKSELKAELERKKQRLAQIREEKKRKEEERKKKETDQKKEAVAPVQEESDLEKKRREA
  EALLQSMGLTPESPIVFSEYWVPPPMSPSSKSVSTPSEAGSQDSGDGAVGSRTLHWDTDP
  SVLQLHSDSDLGRGPIKLGMAKITQVDFPPREIVTYTKETQTPVMAQPKEDEEEDDDVVA
  PKPPIEPEEEKTLKKDEENDSKAPPHELTEEEKQQILHSEEFLSFFDHSTRIVERALSEQ
  INIFFDYSGRDLEDKEGEIQAGAKLSLNRQFFDERWSKHRVVSCLDWSSQYPELLVASYN
  NNEDAPHEPDGVALVWNMKYKKTTPEYVFHCQSAVMSATFAKFHPNLVVGGTYSGQIVLW
  DNRSNKRTPVQRTPLSAAAHTHPVYCVNVVGTQNAHNLISISTDGKICSWSLDMLSHPQD
  SMELVHKQSKAVAVTSMSFPVGDVNNFVVGSEEGSVYTACRHGSKAGISEMFEGHQGPIT
  GIHCHAAVGAVDFSHLFVTSSFDWTVKLWTTKNNKPLYSFEDNADYVYDVMWSPTHPALF
  ACVDGMGRLDLWNLNNDTEVPTASISVEGNPALNRVRWTHSGREIAVGDSEGQIVIYDVG
  EQIAVPRNDEWARFGRTLAEINANRADAEEEAATRIPA

• Sequence length: 638

Pathways

KEGG Pathway	Reactome Pathway
Phagosome	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Motor proteins	MHC class II antigen presentation
Vasopressin-regulated water reabsorption	Separation of Sister Chromatids
Salmonella infection	Resolution of Sister Chromatid Cohesion
	Regulation of PLK1 Activity at G2/M Transition
	HSP90 chaperone cycle for steroid hormone receptors (SHR)
	Loss of Nlp from mitotic centrosomes
	Recruitment of mitotic centrosome proteins and complexes
	Loss of proteins required for interphase microtubule organization from the centrosome
	Recruitment of NuMA to mitotic centrosomes
	Anchoring of the basal body to the plasma membrane
	RHO GTPases Activate Formins
	COPI-mediated anterograde transport
	COPI-independent Golgi-to-ER retrograde traffic
	Mitotic Prometaphase
	AURKA Activation by TPX2
	HCMV Early Events
	Aggrephagy
	EML4 and NUDC in mitotic spindle formation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Neurodevelopmental disorder with microcephaly and structural brain anomalies	Likely pathogenic; Pathogenic	rs2105689812, rs1574594051, rs752940799, rs1574596084	RCV001781012 RCV000786848 RCV000786849 RCV000786850	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	Pathogenic	rs752940799, rs1574596084	RCV001254719 RCV001254720	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (13)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYNC1I2-related disorder	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	35841873	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	38538606	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	38538606	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	26198764	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (18)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ear Diseases	Ear disease	Pubtator	25898929	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32412912	Associate	★☆☆☆☆ Found in Text Mining only
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	BEFREE	28264438, 30326146		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	28160403	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	39382384	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	31079899		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31079899		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	31079899		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	28699632	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

RAB11B 1 shared pathwayVasopressin-regulated water reabsorption 3 shared evidence sourcesClinVar (Neurodevelopmental disorder), CTD (Neurodevelopmental disorder), HPO (Neurodevelopmental disorder) Related via 1 shared pathway including Vasopressin-regulated water reabsorption — evidence mostly ClinVar. UFC1 3 shared evidence sourcesClinVar (Neurodevelopmental disorder), CTD (Neurodevelopmental disorder), HPO (Neurodevelopmental disorder) Related via 3 shared evidence sources. DYNC1H1 23 shared pathwaysPhagosome, Motor proteins, Vasopressin-regulated water reabsorption, Salmonella infection, Aggrephagy, COPI-mediated anterograde transport, Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids, Resolution of Sister Chromatid Cohesion, RHO GTPases Activate Formins, Mitotic Prometaphase, EML4 and NUDC in mitotic spindle formation +11 more Related via 23 shared pathways including Phagosome, Motor proteins. SNAPC4 3 shared evidence sourcesClinVar (Neurodevelopmental disorder), CTD (Neurodevelopmental disorder), HPO (Neurodevelopmental disorder) Related via 3 shared evidence sources. PCDHGC4 3 shared evidence sourcesClinVar (Neurodevelopmental disorder), CTD (Neurodevelopmental disorder), HPO (Neurodevelopmental disorder) Related via 3 shared evidence sources.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
RAB11B	0	[]	1	["Vasopressin-regulated water reabsorption"]	3	["ClinVar (Neurodevelopmental disorder)","CTD (Neurodevelopmental disorder)","HPO (Neurodevelopmental disorder)"]
UFC1	0	[]	0	[]	3	["ClinVar (Neurodevelopmental disorder)","CTD (Neurodevelopmental disorder)","HPO (Neurodevelopmental disorder)"]
DYNC1H1	0	[]	23	["Phagosome","Motor proteins","Vasopressin-regulated water reabsorption","Salmonella infection","Aggrephagy","COPI-mediated anterograde transport","Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation"]	0	[]
SNAPC4	0	[]	0	[]	3	["ClinVar (Neurodevelopmental disorder)","CTD (Neurodevelopmental disorder)","HPO (Neurodevelopmental disorder)"]
PCDHGC4	0	[]	0	[]	3	["ClinVar (Neurodevelopmental disorder)","CTD (Neurodevelopmental disorder)","HPO (Neurodevelopmental disorder)"]

Diseases Linked via Similar Genes

Metabolic syndrome Linked via 1 of 5 related genesRAB11B Diabetes mellitus type 2 Linked via 1 of 5 related genesRAB11B Alzheimer disease Linked via 1 of 5 related genesUFC1 Amyotrophic lateral sclerosis Linked via 1 of 5 related genesDYNC1H1 Arthrogryposis multiplex congenita Linked via 1 of 5 related genesDYNC1H1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Metabolic syndrome	1	["RAB11B"]
Diabetes mellitus type 2	1	["RAB11B"]
Alzheimer disease	1	["UFC1"]
Amyotrophic lateral sclerosis	1	["DYNC1H1"]
Arthrogryposis multiplex congenita	1	["DYNC1H1"]