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

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	255758
Gene name	Dynein light chain Tctex-type 2B
Gene symbol	DYNLT2B
Synonyms (NCBI Gene)	SRTD17TCTEX1D2
Chromosome	3
Chromosome location	3q29
Summary	Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transp

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs771373235	G>A	Pathogenic	Coding sequence variant, stop gained
rs886039815	T>A	Pathogenic	Intron variant

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IDA	25830415
GO:0005515	Function	Protein binding	IPI	20195357, 25910212, 26044572, 27173435, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	25830415
GO:0005868	Component	Cytoplasmic dynein complex	IBA
GO:0005868	Component	Cytoplasmic dynein complex	IDA	25205765, 25830415
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IDA	25830415
GO:0007018	Process	Microtubule-based movement	IBA
GO:0031021	Component	Interphase microtubule organizing center	IDA	25830415
GO:0035721	Process	Intraciliary retrograde transport	IMP	29742051
GO:0045505	Function	Dynein intermediate chain binding	IBA
GO:0045505	Function	Dynein intermediate chain binding	IPI	25830415
GO:0060271	Process	Cilium assembly	IMP	25830415
GO:0097546	Component	Ciliary base	IDA	25830415
GO:0120293	Component	Dynein axonemal particle	IEA
GO:1902017	Process	Regulation of cilium assembly	IMP	25205765
GO:1905799	Process	Regulation of intraciliary retrograde transport	IMP	26044572

MIM	HGNC	e!Ensembl
617353	28482	ENSG00000213123

Q8WW35

Protein name

Dynein light chain Tctex-type protein 2B (Tctex1 domain-containing protein 2)

Protein function

Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intrafl

PDB

8J07 , 8RGI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03645	Tctex-1	43 → 140	Tctex-1 family	Family

Sequence

MATSIGVSFSVGDGVPEAEKNAGEPENTYILRPVFQQRFRPSVVKDCIHAVLKEELANAE
YSPEEMPQLTKHLSENIKDKLKEMGFDRYKMVVQVVIGEQRGEGVFMASRCFWDADTDNY
THDVFMNDSLFCVVAAFGCFYY

Sequence length

142

Interactions

View interactions

	Reactome
			Intraflagellar transport

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Asphyxiating thoracic dystrophy 3	Pathogenic	rs886039815	RCV000256484
Short-rib thoracic dysplasia 17 with or without polydactyly	Pathogenic	rs886039815, rs1056574154, rs771373235, rs1060505043	RCV004021043 RCV000477741 RCV000477693 RCV000477719

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
DYNLT2B-related disorder	Uncertain significance; Likely benign; Benign	rs201901599, rs766929757, rs142927338, rs145476537	RCV004758236 RCV003967242 RCV003903263 RCV003897937
Familial cancer of breast	Benign	rs2293160	RCV005918662
Hepatocellular carcinoma	Benign	rs2293160, rs2270769	RCV005918663 RCV005923786
Malignant lymphoma, large B-cell, diffuse	Benign	rs2293160	RCV005918664

DYNLT2B (dynein light chain Tctex-type 2B)