DNAJC17 (DnaJ heat shock protein family (Hsp40) member C17)

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

Gene

• Entrez ID: 55192
• Gene name: DnaJ heat shock protein family (Hsp40) member C17
• Gene symbol: DNAJC17
• Synonyms (NCBI Gene): -
• Chromosome: 15
• Chromosome location: 15q15.1

miRNA Show/Hide all (11)

miRTarBase ID	miRNA	Experiments	Reference
MIRT940856	hsa-miR-4282	CLIP-seq
MIRT2448414	hsa-miR-1193	CLIP-seq
MIRT2448415	hsa-miR-3135b	CLIP-seq
MIRT2448416	hsa-miR-3165	CLIP-seq
MIRT2448417	hsa-miR-3652	CLIP-seq
MIRT2448418	hsa-miR-3691-5p	CLIP-seq
MIRT2448419	hsa-miR-4430	CLIP-seq
MIRT2448420	hsa-miR-4487	CLIP-seq
MIRT2448421	hsa-miR-4505	CLIP-seq
MIRT2448422	hsa-miR-4633-3p	CLIP-seq
MIRT2448423	hsa-miR-4731-5p	CLIP-seq

Gene ontology (GO) Show/Hide all (8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000390	Process	Spliceosomal complex disassembly	IBA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005681	Component	Spliceosomal complex	IBA
GO:0005737	Component	Cytoplasm	IEA

Other IDs

• MIM: 616844
• HGNC: 25556
• e!Ensembl: ENSG00000104129

Protein

• UniProt ID: Q9NVM6
• Protein name: DnaJ homolog subfamily C member 17
• Protein function: May negatively affect PAX8-induced thyroglobulin/TG transcription.
• PDB: 2D9O
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00076	RRM_1	187 → 241	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF00226	DnaJ	11 → 73	DnaJ domain	Domain

• Sequence:

  MAVTKELLQMDLYALLGIEEKAADKEVKKAYRQKALSCHPDKNPDNPRAAELFHQLSQAL
  EVLTDAAARAAYDKVRKAKKQAAERTQKLDEKRKKVKLDLEARERQAQAQESEEEEESRS
  TRTLEQEIERLREEGSRQLEEQQRLIREQIRQERDQRLRGKAENTEGQGTPKLKLKWKCK
  KEDESKGGYSKDVLLRLLQKYGEVLNLVLSSKKPGTAVVEFATVKAAELAVQNEVGLVDN
  PLKISWLEGQPQDAVGRSHSGLSKGSVLSERDYESLVMMRMRQAAERQQLIARMQQEDQE
  GPPT

• Sequence length: 304

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DNAJC17-related disorder	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus, nonsyndromic, autosomal recessive 1	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (10)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agammaglobulinemia	Agammaglobulinemia	Pubtator	26355662	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	29773831		★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital hypothyroidism	Pubtator	29773831	Associate	★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	26355662		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	29159607		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	29773831		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	29773831	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	26355662		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	26355662	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Dysgenesis	Thyroid Dysgenesis	BEFREE	29159607		★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for DNAJC17.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to DNAJC17.