Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	66037
Gene name	Boule RNA binding protein
Gene symbol	BOLL
Synonyms (NCBI Gene)	BOULE
Chromosome	2
Chromosome location	2q33.1
Summary	This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-l

Show/Hide all (36)

miRTarBase ID	miRNA	Experiments	Reference
MIRT445181	hsa-miR-4635	PAR-CLIP	22100165
MIRT445181	hsa-miR-4635	PAR-CLIP	22100165
MIRT823721	hsa-miR-132	CLIP-seq
MIRT823722	hsa-miR-212	CLIP-seq
MIRT823723	hsa-miR-3662	CLIP-seq
MIRT823724	hsa-miR-4477a	CLIP-seq
MIRT823725	hsa-miR-4517	CLIP-seq
MIRT823726	hsa-miR-455-3p	CLIP-seq
MIRT823727	hsa-miR-4775	CLIP-seq
MIRT823728	hsa-miR-590-3p	CLIP-seq
MIRT823729	hsa-miR-665	CLIP-seq
MIRT823730	hsa-miR-181a	CLIP-seq
MIRT823731	hsa-miR-181b	CLIP-seq
MIRT823732	hsa-miR-181c	CLIP-seq
MIRT823733	hsa-miR-181d	CLIP-seq
MIRT823734	hsa-miR-4262	CLIP-seq
MIRT823735	hsa-miR-452	CLIP-seq
MIRT823736	hsa-miR-4676-3p	CLIP-seq
MIRT1943546	hsa-miR-3199	CLIP-seq
MIRT1943547	hsa-miR-4265	CLIP-seq
MIRT1943548	hsa-miR-4289	CLIP-seq
MIRT1943549	hsa-miR-4296	CLIP-seq
MIRT1943550	hsa-miR-4322	CLIP-seq
MIRT1943551	hsa-miR-4648	CLIP-seq
MIRT1943552	hsa-miR-4654	CLIP-seq
MIRT1943553	hsa-miR-4699-3p	CLIP-seq
MIRT1943554	hsa-miR-4769-5p	CLIP-seq
MIRT2182201	hsa-miR-582-5p	CLIP-seq
MIRT2182202	hsa-miR-607	CLIP-seq
MIRT2182203	hsa-miR-664	CLIP-seq
MIRT2435816	hsa-miR-1183	CLIP-seq
MIRT2435817	hsa-miR-1303	CLIP-seq
MIRT823728	hsa-miR-590-3p	CLIP-seq
MIRT2435816	hsa-miR-1183	CLIP-seq
MIRT2435817	hsa-miR-1303	CLIP-seq
MIRT823728	hsa-miR-590-3p	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003730	Function	MRNA 3'-UTR binding	IBA
GO:0005515	Function	Protein binding	IPI	15806553, 16001084, 25416956, 31515488, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11390979, 31429579
GO:0005737	Component	Cytoplasm	IEA
GO:0006417	Process	Regulation of translation	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008494	Function	Translation activator activity	IBA
GO:0008494	Function	Translation activator activity	IDA	16001084
GO:0030154	Process	Cell differentiation	IEA
GO:0042802	Function	Identical protein binding	IPI	15806553
GO:0045948	Process	Positive regulation of translational initiation	IBA
GO:0045948	Process	Positive regulation of translational initiation	IDA	16001084
GO:0051321	Process	Meiotic cell cycle	IDA	12499397
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0070935	Process	3'-UTR-mediated mRNA stabilization	IBA

MIM	HGNC	e!Ensembl
606165	14273	ENSG00000152430

Q8N9W6

Protein name

Protein boule-like

Protein function

Probable RNA-binding protein, which may be required during spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00076	RRM_1	35 → 104	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain

Tissue specificity

TISSUE SPECIFICITY: Testis specific. Not expressed in early embryos, primordial germ cells and spermatogonial cells. First expressed in the cytoplasm of spermatocytes and then persists through meiosis. {ECO:0000269|PubMed:11390979, ECO:0000269|PubMed:1711

Sequence

MQTDSLSPSPNPVSPVPLNNPTSAPRYGTVIPNRIFVGGIDFKTNESDLRKFFSQYGSVK
EVKIVNDRAGVSKGYGFVTFETQEDAQKILQEAEKLNYKDKKLNIGPAIRKQQVGIPRSS
IMPAAGTMYLTTSTGYPYTYHNGVAYFHTPEVTSVPPPWPSRSVCSSPVMVAQPIYQQPA
YHYQATTQYLPGQWQWSVPQPSASSAPFLYLQPSEVIYQPVEIAQDGGCVPPPLSLMETS
VPEPYSDHGVQATYHQVYAPSAITMPAPVMQPEPIKTVWSIHY

Sequence length

283

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)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	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.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC DILATED CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	19435948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	34910834	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	15379971, 15705409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	35266640	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	17892325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	17892325		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21298349	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	39287291	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	GWASDB_DG	18997786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	GWASCAT_DG	18997786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	GWASDB_DG	22923026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	15379971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	12778326, 15379971, 15705409, 28342926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	34910834	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37279148	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	BEFREE	15591084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	31001336		★★★★★ ★☆☆☆☆ Found in Text Mining only

BOLL (boule RNA binding protein)