BICC1 (BicC family RNA binding protein 1)

Gene

• Entrez ID: 80114
• Gene name: BicC family RNA binding protein 1
• Gene symbol: BICC1
• Synonyms (NCBI Gene): BICC
• Chromosome: 10
• Chromosome location: 10q21.1
• Summary: This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907123	C>A,T	Risk-factor	Coding sequence variant, genic upstream transcript variant, stop gained, missense variant
rs387907124	A>G	Risk-factor	Coding sequence variant, genic downstream transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT660299	hsa-miR-548b-3p	HITS-CLIP	23824327
MIRT660298	hsa-miR-4511	HITS-CLIP	23824327
MIRT660297	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT660296	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT660295	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT660294	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT660293	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT660292	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT660291	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT660290	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT660289	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT660288	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT660287	hsa-miR-4776-3p	HITS-CLIP	23824327
MIRT660286	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT445701	hsa-miR-3668	PAR-CLIP	22100165
MIRT445700	hsa-miR-6834-3p	PAR-CLIP	22100165
MIRT445699	hsa-miR-4716-5p	PAR-CLIP	22100165
MIRT445698	hsa-miR-3912-5p	PAR-CLIP	22100165
MIRT445701	hsa-miR-3668	PAR-CLIP	22100165
MIRT445700	hsa-miR-6834-3p	PAR-CLIP	22100165
MIRT445699	hsa-miR-4716-5p	PAR-CLIP	22100165
MIRT445698	hsa-miR-3912-5p	PAR-CLIP	22100165
MIRT660299	hsa-miR-548b-3p	HITS-CLIP	23824327
MIRT660298	hsa-miR-4511	HITS-CLIP	23824327
MIRT660297	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT660296	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT660295	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT660294	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT660293	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT660292	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT660291	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT660290	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT660289	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT660288	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT660287	hsa-miR-4776-3p	HITS-CLIP	23824327
MIRT660286	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT445701	hsa-miR-3668	PAR-CLIP	22100165
MIRT445700	hsa-miR-6834-3p	PAR-CLIP	22100165
MIRT445699	hsa-miR-4716-5p	PAR-CLIP	22100165
MIRT445698	hsa-miR-3912-5p	PAR-CLIP	22100165
MIRT445701	hsa-miR-3668	PAR-CLIP	22100165
MIRT445700	hsa-miR-6834-3p	PAR-CLIP	22100165
MIRT445699	hsa-miR-4716-5p	PAR-CLIP	22100165
MIRT445698	hsa-miR-3912-5p	PAR-CLIP	22100165
MIRT2181569	hsa-miR-142-5p	CLIP-seq
MIRT2181570	hsa-miR-548a-5p	CLIP-seq
MIRT2181571	hsa-miR-548ab	CLIP-seq
MIRT2181572	hsa-miR-548ak	CLIP-seq
MIRT2181573	hsa-miR-548b-5p	CLIP-seq
MIRT2181574	hsa-miR-548c-5p	CLIP-seq
MIRT2181575	hsa-miR-548d-5p	CLIP-seq
MIRT2181576	hsa-miR-548h	CLIP-seq
MIRT2181577	hsa-miR-548i	CLIP-seq
MIRT2181578	hsa-miR-548j	CLIP-seq
MIRT2181579	hsa-miR-548k	CLIP-seq
MIRT2181580	hsa-miR-548l	CLIP-seq
MIRT2181581	hsa-miR-548w	CLIP-seq
MIRT2181582	hsa-miR-548y	CLIP-seq
MIRT2181583	hsa-miR-559	CLIP-seq
MIRT2426622	hsa-miR-1236	CLIP-seq
MIRT2426623	hsa-miR-4659a-5p	CLIP-seq
MIRT2426624	hsa-miR-4659b-5p	CLIP-seq
MIRT2426625	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007507	Process	Heart development	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	21922595

Other IDs

• MIM: 614295
• HGNC: 19351
• e!Ensembl: ENSG00000122870

Protein

• UniProt ID: Q9H694
• Protein name: Protein bicaudal C homolog 1 (Bic-C)
• Protein function: Putative RNA-binding protein. Acts as a negative regulator of Wnt signaling. May be involved in regulating gene expression during embryonic development.
• PDB: 4RQM, 4RQN, 6GY4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00013	KH_1	134 → 201	KH domain	Domain
  PF00013	KH_1	286 → 350	KH domain	Domain
  PF00536	SAM_1	874 → 934	SAM domain (Sterile alpha motif)	Domain

• Sequence:

  MAAQGEPGYLAAQSDPGSNSERSTDSPVPGSEDDLVAGATLHSPEWSEERFRVDRKKLEA
  MLQAAAEGKGRSGEDFFQKIMEETNTQIAWPSKLKIGAKSKKDPHIKVSGKKEDVKEAKE
  MIMSVLDTKSNRVTLKMDVSHTEHSHVIGKGGNNIKKVMEETGCHIHFPDSNRNNQAEKS
  NQVSIAGQPAGVESARVRIRELLPLVLMFELPIAGILQPVPDPNSPSIQHISQTYNISVS
  FKQRSRMYGATVIVRGSQNNTSAVKEGTAMLLEHLAGSLASAIPVSTQLDIAAQHHLFMM
  GRNGSNIKHIMQRTGAQIHFPDPSNPQKKSTVYLQGTIESVCLARQYLMGCLPLVLMFDM
  KEEIEVDPQFIAQLMEQLDVFISIKPKPKQPSKSVIVKSVERNALNMYEARKCLLGLESS
  GVTIATSPSPASCPAGLACPSLDILASAGLGLTGLGLLGPTTLSLNTSTTPNSLLNALNS
  SVSPLQSPSSGTPSPTLWAPPLANTSSATGFSAIPHLMIPSTAQATLTNILLSGVPTYGH
  TAPSPPPGLTPVDVHINSMQTEGKKISAALNGHAQSPDIKYGAISTSSLGEKVLSANHGD
  PSIQTSGSEQTSPKSSPTEGCNDAFVEVGMPRSPSHSGNAGDLKQMMCPSKVSCAKRQTV
  ELLQGTKNSHLHSTDRLLSDPELSATESPLADKKAPGSERAAERAAAAQQNSERAHLAPR
  SSYVNMQAFDYEQKKLLATKAMLKKPVVTEVRTPTNTWSGLGFSKSMPAETIKELRRANH
  VSYKPTMTTTYEGSSMSLSRSNSREHLGGGSESDNWRDRNGIGPGSHSEFAASIGSPKRK
  QNKSTEHYLSSSNYMDCISSLTGSNGCNLNSSFKGSDLPELFSKLGLGKYTDVFQQQEID
  LQTFLTLTDQDLKELGITTFGARRKMLLAISELNKNRRKLFESPNARTSFLEGGASGRLP
  RQYHSDIASVSGRW

• Sequence length: 974

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Renal agenesis	Likely pathogenic	rs778832785	RCV001807685	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal dysplasia, cystic, susceptibility to	Pathogenic; Likely pathogenic	rs2132481650, rs2492140343, rs2492076262, rs2132831777	RCV001353244 RCV003991394 RCV004546887 RCV004555301	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BICC1-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAKUT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF KIDNEY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of kidney and urinary tract	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	24836286, 26965516		★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	BEFREE	25178406		★☆☆☆☆ Found in Text Mining only
Autosomal dominant polycystic kidney disease	Polycystic kidney disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	30697050		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	24563076, 32252259, 36635225, 37292215	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	29290488		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	24836286, 26965516		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASDB_DG	24836286		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	24836286, 26965516		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	22641646, 28450740, 29290488		★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	BEFREE	30697050		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	20516156, 22910460, 25178406, 26391493, 26440730, 28216067, 31102751		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	20516156, 22910460		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	21922595		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21922595		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	28736931		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	GWASCAT_DG	30054594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma Open Angle	Open angle glaucoma	Pubtator	35741817	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	GWASCAT_DG	29891935		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	21922595		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37880742	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASDB_DG	20516156, 22915352		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	22910460, 25178406, 26391493, 26440730, 30697050, 31102751		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	24836286, 26965516		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	24836286, 26965516		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	30697050		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	20516156, 22910460, 25178406, 26391493, 26440730, 28216067, 31102751		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	20516156, 22910460		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	BEFREE	26440730, 30697050		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	GWASCAT_DG	27182965		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	29044055	Associate	★☆☆☆☆ Found in Text Mining only
Nephronophthisis familial juvenile	Nephronophthisis	Pubtator	32994509	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32702921, 37880742	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	21922595, 22641646		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	ORPHANET_DG	21922595		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	22641646		★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	28085524		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	35578692	Associate	★☆☆☆☆ Found in Text Mining only