BRINP1 (BMP/retinoic acid inducible neural specific 1)

Gene

• Entrez ID: 1620
• Gene name: BMP/retinoic acid inducible neural specific 1
• Gene symbol: BRINP1
• Synonyms (NCBI Gene): DBC1, DBCCR1, FAM5A
• Chromosome: 9
• Chromosome location: 9q33.1
• Summary: This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5` CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001662	Process	Behavioral fear response	IEA
GO:0005515	Function	Protein binding	IPI	12442002, 22446626
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11420708
GO:0005737	Component	Cytoplasm	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007420	Process	Brain development	IEA
GO:0007614	Process	Short-term memory	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010498	Process	Proteasomal protein catabolic process	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IBA
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0030425	Component	Dendrite	IBA
GO:0035176	Process	Social behavior	IEA
GO:0035640	Process	Exploration behavior	IEA
GO:0042711	Process	Maternal behavior	IEA
GO:0043025	Component	Neuronal cell body	IBA
GO:0045202	Component	Synapse	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045930	Process	Negative regulation of mitotic cell cycle	IBA
GO:0045930	Process	Negative regulation of mitotic cell cycle	IEA
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0050768	Process	Negative regulation of neurogenesis	IEA
GO:0050821	Process	Protein stabilization	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
GO:0071625	Process	Vocalization behavior	IEA
GO:0098978	Component	Glutamatergic synapse	IEA

Other IDs

• MIM: 602865
• HGNC: 2687
• e!Ensembl: ENSG00000078725

Protein

• UniProt ID: O60477
• Protein name: BMP/retinoic acid-inducible neural-specific protein 1 (Deleted in bladder cancer protein 1)
• Protein function: Plays a role in neurogenesis and brain development (By similarity). May suppress cell cycle progression in postmitotic neurons by inhibiting G1/S transition (PubMed:11420708).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01823	MACPF	47 → 202	MAC/Perforin domain	Domain
  PF19052	BRINP	306 → 761	BMP/retinoic acid-inducible neural-specific protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in brain. Weakly expressed in heart, lung, skeletal muscle, kidney, thymus, prostate, testis and small intestine. {ECO:0000269|PubMed:9545632}.
• Sequence:

  MNWRFVELLYFLFIWGRISVQPSHQEPAGTDQHVSKEFDWLISDRGPFHHSRSYLSFVER
  HRQGFTTRYKIYREFARWKVRNTAIERRDLVRHPVPLMPEFQRSIRLLGRRPTTQQFIDT
  IIKKYGTHLLISATLGGEEALTMYMDKSRLDRKSGNATQSVEALHQLASSYFVDRDGTMR
  RLHEIQISTGAIKVTETRTGPLGCNSYDNLDSVSSVLLQSTESKLHLQGLQIIFPQYLQE
  KFVQSALSYIMCNGEGEYLCQNSQCRCQCAEEFPQCNCPITDIQIMEYTLANMAKSWAEA
  YKDLENSDEFKSFMKRLPSNHFLTIGSIHQHWGNDWDLQNRYKLLQSATEAQRQKIQRTA
  RKLFGLSVRCRHNPNHQLPRERTIQQWLARVQSLLYCNENGFWGTFLESQRSCVCHGSTT
  LCQRPIPCVIGGNNSCAMCSLANISLCGSCNKGYKLYRGRCEPQNVDSERSEQFISFETD
  LDFQDLELKYLLQKMDSRLYVHTTFISNEIRLDTFFDPRWRKRMSLTLKSNKNRMDFIHM
  VIGMSMRICQMRNSSLDPMFFVYVNPFSGSHSEGWNMPFGEFGYPRWEKIRLQNSQCYNW
  TLLLGNRWKTFFETVHIYLRSRTRLPTLLRNETGQGPVDLSDPSKRQFYIKISDVQVFGY
  SLRFNADLLRSAVQQVNQSYTQGGQFYSSSSVMLLLLDIRDRINRLAPPVAPGKPQLDLF
  SCMLKHRLKLTNSEIIRVNHALDLYNTEILKQSDQMTAKLC

• Sequence length: 761

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
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASPHYXIA NEONATORUM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPITUITARISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEAL MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	16846474		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	25053585		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	15367334	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	15643521		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	25053585		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	29960053		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29960053		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	11410506, 11420708, 12442002, 15226771, 16369496, 21586619, 9545632		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17473282, 20074560, 20412117, 25732823, 30175866, 30597111		★☆☆☆☆ Found in Text Mining only
Cancer of Digestive System	Gastric Cancer	BEFREE	31205519		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26769141	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	23805287		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	11410506, 11420708, 15226771, 16369496, 21586619, 9545632		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28427182		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	30182136		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29658966		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29658966		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26477307, 30082743		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23299276, 26477307, 30082743		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27904654		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29106957		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28427182	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17473282, 20074560, 20412117, 25732823, 30175866, 30597111		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15746151, 28427182		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22127596, 26769141		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	11410506, 11420708, 15226771, 15643521, 16369496, 21586619, 9545632		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18264085, 22127596, 23841676, 25732823, 28336669, 28427182		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29658966		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26477307, 30082743		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29960053		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	25362179		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10469456, 11410506, 11420708, 11747331, 11920732, 12442002, 15226771, 15643521, 15746151, 16369496, 16846474, 18264085, 19509139, 20074560, 23805287, 25732823, 26260902, 9545632		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	29658966		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30609639		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28506896		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	15746151		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASDB_DG	20070850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	GWASCAT_DG	20070850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	24019980		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29960053		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	15226771, 23805287		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	22127596		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	15226771	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19509139, 22127596, 26769141		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26769141	Inhibit	★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	11313984		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	15226771, 28427182	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	18452128		★☆☆☆☆ Found in Text Mining only