Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	140836
Gene name	BANF family member 2
Gene symbol	BANF2
Synonyms (NCBI Gene)	BAF-LBAF2BAFLC20orf179
Chromosome	20
Chromosome location	20p12.1

10 Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000793	Component	Condensed chromosome	IBA
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0051276	Process	Chromosome organization	IBA

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

Q9H503

Protein name

Barrier-to-autointegration factor-like protein (BAF-L) (Barrier-to-autointegration factor 2)

Protein function

May play a role in BANF1 regulation and influence tissue-specific roles of BANF1.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02961	BAF	2 → 89	Barrier to autointegration factor	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed strongly in testis and pancreas. Also detected in brain, colon, liver, lung, ovary, placenta, prostate, small intestine, spleen and thymus. Not detected in heart, kidney and skeletal muscle.

Sequence

MDNMSPRLRAFLSEPIGEKDVCWVDGISHELAINLVTKGINKAYILLGQFLLMHKNEAEF
QRWLICCFGATECEAQQTSHCLKEWCACFL

Sequence length

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 (12)
ANDROGENETIC ALOPECIA	—	GWAS catalog	28272467	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	30595370	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	32581359, 37002690	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	34651315	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTOTEMPORAL DEMENTIA	—	GWAS catalog	29724592	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	34651315	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	30595370, 36093044, 39067062, 39789286, 41238958	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	38538606	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	38538606	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	39749473	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39749473	★★★★★ ★★☆☆☆ 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
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	23006766	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	23006766	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

BANF2 (BANF family member 2)

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