Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	25972
Gene name	Unc-50 inner nuclear membrane RNA binding protein
Gene symbol	UNC50
Synonyms (NCBI Gene)	GMH1HSD23PDLs22UNCLURP
Chromosome	2
Chromosome location	2q11.2

24 Show/Hide all (24)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048466	hsa-miR-100-5p	CLASH	23622248
MIRT1475425	hsa-miR-1267	CLIP-seq
MIRT1475426	hsa-miR-200b	CLIP-seq
MIRT1475427	hsa-miR-200c	CLIP-seq
MIRT1475428	hsa-miR-429	CLIP-seq
MIRT1475429	hsa-miR-452	CLIP-seq
MIRT1475430	hsa-miR-4676-3p	CLIP-seq
MIRT1475431	hsa-miR-513b	CLIP-seq
MIRT1475432	hsa-miR-514	CLIP-seq
MIRT1475433	hsa-miR-514b-3p	CLIP-seq
MIRT1475434	hsa-miR-642b	CLIP-seq
MIRT1475435	hsa-miR-935	CLIP-seq
MIRT2363539	hsa-miR-1	CLIP-seq
MIRT2363540	hsa-miR-128	CLIP-seq
MIRT2363541	hsa-miR-140-3p	CLIP-seq
MIRT1475426	hsa-miR-200b	CLIP-seq
MIRT1475427	hsa-miR-200c	CLIP-seq
MIRT2363542	hsa-miR-2053	CLIP-seq
MIRT2363543	hsa-miR-206	CLIP-seq
MIRT1475428	hsa-miR-429	CLIP-seq
MIRT1475431	hsa-miR-513b	CLIP-seq
MIRT2363544	hsa-miR-569	CLIP-seq
MIRT2363545	hsa-miR-613	CLIP-seq
MIRT2363546	hsa-miR-889	CLIP-seq

12 Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005637	Component	Nuclear inner membrane	ISS
GO:0005794	Component	Golgi apparatus	IEA
GO:0016020	Component	Membrane	IEA
GO:0034394	Process	Protein localization to cell surface	IEA
GO:0034394	Process	Protein localization to cell surface	ISS

MIM	HGNC	e!Ensembl
617826	16046	ENSG00000115446

Q53HI1

Protein name

Protein unc-50 homolog (Periodontal ligament-specific protein 22) (PDLs22) (Protein GMH1 homolog) (hGMH1) (Uncoordinated-like protein)

Protein function

Involved in the cell surface expression of neuronal nicotinic receptors (By similarity). Binds RNA (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05216	UNC-50	34 → 255	UNC-50 family	Family

Tissue specificity

TISSUE SPECIFICITY: Present in periodontal ligament fibroblasts (at protein level). {ECO:0000269|PubMed:17004066}.

Sequence

MLPSTSVNSLVQGNGVLNSRDAARHTAGAKRYKYLRRLFRFRQMDFEFAAWQMLYLFTSP
QRVYRNFHYRKQTKDQWARDDPAFLVLLSIWLCVSTIGFGFVLDMGFFETIKLLLWVVLI
DCVGVGLLIATLMWFISNKYLVKRQSRDYDVEWGYAFDVHLNAFYPLLVILHFIQLFFIN
HVILTDTFIGYLVGNTLWLVAVGYYIYVTFLGYSALPFLKNTVILLYPFAPLILLYGLSL
ALGWNFTHTLCSFYKYRVK

Sequence length

259

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (14)
Acute myeloid leukemia	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis multiplex congenita	Uncertain significance	ClinVar Disgenet	40219868,29016857,33820833	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	30177863	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fetal akinesia deformation sequence 1	Uncertain significance	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
Malignant tumor of esophagus	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNC50-related disorder	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (7)
Arnold Chiari Malformation	Arnold-Chiari malformation	BEFREE	30621833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	29016857		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	33820833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25738771	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular Diseases	GWASCAT_DG	30177863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary gingival fibromatosis	Hereditary Gingival Fibromatosis	BEFREE	27725196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25738771		★★★★★ ★☆☆☆☆ Found in Text Mining only

UNC50 (unc-50 inner nuclear membrane RNA binding protein)

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