DYNLT2B (dynein light chain Tctex-type 2B)

Gene

• Entrez ID: 255758
• Gene name: Dynein light chain Tctex-type 2B
• Gene symbol: DYNLT2B
• Synonyms (NCBI Gene): SRTD17, TCTEX1D2
• 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

SNPs

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

Gene ontology (GO)

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

Other IDs

• MIM: 617353
• HGNC: 28482
• e!Ensembl: ENSG00000213123

Protein

• UniProt ID: 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

Pathways

Reactome:

Intraflagellar transport

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
Asphyxiating thoracic dystrophy 3	Pathogenic	rs886039815	RCV000256484	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short-rib thoracic dysplasia 17 with or without polydactyly	Pathogenic	rs886039815, rs1056574154, rs771373235, rs1060505043	RCV004021043 RCV000477741 RCV000477693 RCV000477719	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASPHYXIATING THORACIC DYSPLASIA JEUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYNLT2B-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ 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
JEUNE THORACIC DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALDINO-NOONAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB-POLYDACTYLY SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asphyxiating Thoracic Dystrophy 1	Asphyxiating Thoracic Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Asplenia Syndrome	Asplenia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Bilateral hydronephrosis	Hydronephrosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	GENOMICS_ENGLAND_DG	26044572		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	BEFREE	26044572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Majewski Syndrome	Majewski Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	26044572		★☆☆☆☆ Found in Text Mining only
Saldino-Noonan Syndrome	Asphyxiating thoracic dystrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short Rib-Polydactyly Syndrome	Short Rib-Polydactyly Syndrome	BEFREE	25830415		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short Rib-Polydactyly Syndrome	Short Rib-Polydactyly Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY	Short-Rib Thoracic Dysplasia With Or Without Polydactyly	GENOMICS_ENGLAND_DG	25830415, 26044572, 28475963		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)