TUNAR (transmembrane neural differentiation associated intracellular calcium regulator)

Gene

• Entrez ID: 100507043
• Gene name: Transmembrane neural differentiation associated intracellular calcium regulator
• Gene symbol: TUNAR
• Synonyms (NCBI Gene): BNLN, HI-LNC78, LINC00617, TUNA, pTUNAR
• Chromosome: 14
• Chromosome location: 14q32.2
• Summary: This gene produces a spliced long non-coding RNA that may play a role in maintaining pluripotency and the neural differentiation of embryonic stem cells. Expression of this lncRNA in the caudate nucleus of brains from Huntington`s Disease patients has bee

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005783	Component	Endoplasmic reticulum	IDA	34513312
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0016020	Component	Membrane	IEA
GO:0032469	Process	Endoplasmic reticulum calcium ion homeostasis	IDA	34513312
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	IDA	34513312
GO:0045665	Process	Negative regulation of neuron differentiation	ISS
GO:0048812	Process	Neuron projection morphogenesis	ISS
GO:0051117	Function	ATPase binding	IPI	34513312
GO:0051117	Function	ATPase binding	ISS
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	ISS

Other IDs

• MIM: 615719
• HGNC: 44088
• e!Ensembl: ENSG00000250366

Protein

• UniProt ID: A0A1B0GTB2
• Protein name: Protein TUNAR (pTUNAR) (Beta cell and neural cell-regulin) (BNLN) (TCL1 upstream neural differentiation-associated RNA)
• Protein function: In neurons, plays a role in the regulation of intracellular Ca(2+), possibly by acting as an activator of ATP2A2/SERCA2, thus increasing the efficiency with which Ca(2+) is removed from the cytoplasm (By similarity). Inhibits differentiation of
• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in pancreatic islets where it is enriched in the insulin-producing beta cells. {ECO:0000269|PubMed:34513312}.
• Sequence:

  
  
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• Sequence length:
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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	Evidence Score
ATYPICAL FEMORAL FRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLONAL HEMATOPOIESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELOPROLIFERATIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	26207516		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	33682459	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	33682459	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29540255		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	24530304		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	35756490	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26207516		★☆☆☆☆ Found in Text Mining only