Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	89927
Gene name	BMERB domain containing 1
Gene symbol	BMERB1
Synonyms (NCBI Gene)	C16orf45MINP
Chromosome	16
Chromosome location	16p13.11

8 Show/Hide all (8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	24722188, 25416956
GO:0007019	Process	Microtubule depolymerization	IEA
GO:0007026	Process	Negative regulation of microtubule depolymerization	IBA
GO:0007026	Process	Negative regulation of microtubule depolymerization	IEA
GO:0015630	Component	Microtubule cytoskeleton	IBA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0021814	Process	Cell motility involved in cerebral cortex radial glia guided migration	IEA
GO:0021822	Process	Negative regulation of cell motility involved in cerebral cortex radial glia guided migration	IEA

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

Q96MC5

Protein name

bMERB domain-containing protein 1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12130	DUF3585	8 → 148	Bivalent Mical/EHBP Rab binding domain	Domain

Sequence

MELKQSLSTHLEAEKPLRRYGAVEETAWKTERLGRNQLDIISMAETTMMPEEIELEMAKI
QRLREVLVRRESELRFMMDDIQLCKDIMDLKQELQNLVAIPEKEKTKLQKQREDELIQKI
HKLVQKRDFLVDDAEVERLREQEEDKEMADFLRIKLKPLDKVTKSPASSRAEKKAEPPPS
KPTVAKTGLALIKDCCGATQCNIM

Sequence length

204

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 (8)
INSOMNIA	—	GWAS catalog	35835914	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	38177345	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	38757301	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC CREUTZFELD JACOB DISEASE	—	GWAS catalog	32949544	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR CARCINOMA	—	GWAS catalog	28604728	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR GERM CELL TUMOR	—	GWAS catalog	28604728	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ 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
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	GWASCAT_DG	28604728		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease Type 2	Von willebrand disorder	Pubtator	32577795	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

BMERB1 (bMERB domain containing 1)

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