BRINP2 (BMP/retinoic acid inducible neural specific 2)

Gene

• Entrez ID: 57795
• Gene name: BMP/retinoic acid inducible neural specific 2
• Gene symbol: BRINP2
• Synonyms (NCBI Gene): DBCCR1L2, FAM5B
• Chromosome: 1
• Chromosome location: 1q25.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IBA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0040011	Process	Locomotion	IEA
GO:0043025	Component	Neuronal cell body	IBA
GO:0043025	Component	Neuronal cell body	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045786	Process	Negative regulation of cell cycle	IEA
GO:0045930	Process	Negative regulation of mitotic cell cycle	IBA
GO:0045930	Process	Negative regulation of mitotic cell cycle	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0071300	Process	Cellular response to retinoic acid	IBA
GO:0071300	Process	Cellular response to retinoic acid	IEA

Other IDs

• MIM: 619359
• HGNC: 13746
• e!Ensembl: ENSG00000198797

Protein

• UniProt ID: Q9C0B6
• Protein name: BMP/retinoic acid-inducible neural-specific protein 2 (DBCCR1-like protein 2)
• Protein function: Inhibits neuronal cell proliferation by negative regulation of the cell cycle transition.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01823	MACPF	66 → 195	MAC/Perforin domain	Domain
  PF19052	BRINP	336 → 783	BMP/retinoic acid-inducible neural-specific protein	Family

• Sequence:

  MRWQCGTRFRGLRPAVAPWTALLALGLPGWVLAVSATAAAVVPEQHASVAGQHPLDWLLT
  DRGPFHRAQEYADFMERYRQGFTTRYRIYREFARWKVNNLALERKDFFSLPLPLAPEFIR
  NIRLLGRRPNLQQVTENLIKKYGTHFLLSATLGGEESLTIFVDKQKLGRKTETTGGASII
  GGSGNSTAVSLETLHQLAASYFIDRESTLRRLHHIQIATGAIKVTETRTGPLGCSNYDNL
  DSVSSVLVQSPENKVQLLGLQVLLPEYLRERFVAAALSYITCSSEGELVCKENDCWCKCS
  PTFPECNCPDADIQAMEDSLLQIQDSWATHNRQFEESEEFQALLKRLPDDRFLNSTAISQ
  FWAMDTSLQHRYQQLGAGLKVLFKKTHRILRRLFNLCKRCHRQPRFRLPKERSLSYWWNR
  IQSLLYCGESTFPGTFLEQSHSCTCPYDQSSCQGPIPCALGEGPACAHCAPDNSTRCGSC
  NPGYVLAQGLCRPEVAESLENFLGLETDLQDLELKYLLQKQDSRIEVHSIFISNDMRLGS
  WFDPSWRKRMLLTLKSNKYKPGLVHVMLALSLQICLTKNSTLEPVMAIYVNPFGGSHSES
  WFMPVNEGSFPDWERTNVDAAAQCQNWTITLGNRWKTFFETVHVYLRSRIKSLDDSSNET
  IYYEPLEMTDPSKNLGYMKINTLQVFGYSLPFDPDAIRDLILQLDYPYTQGSQDSALLQL
  IELRDRVNQLSPPGKVRLDLFSCLLRHRLKLANNEVGRIQSSLRAFNSKLPNPVEYETGK
  LCS

• Sequence length: 783

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
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cognition Disorders	Cognition disorder	Pubtator	39615603	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	39615603	Associate	★☆☆☆☆ Found in Text Mining only