BOLL - boule homolog, RNA binding protein Gene

Homo sapiens

Also known as BOULE

Gene ID: 66037 | Gene type: protein coding

About BOLL

Cytogenetic location: 2q33.1 Genomic coordinates (GRCh38): 2:197,726,890-197,786,206 (from NCBI)

This gene has 9 transcripts (splice variants), 187 orthologues and 5 paralogues. Restricted expression toward testis (RPKM 22.5).

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-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

BOLL Products(5)

mRNA	Protein	Name
NM_001284358.2	NP_001271287.1	protein boule-like isoform 3
NM_001284361.2	NP_001271290.1	protein boule-like isoform 4
NM_001284362.2	NP_001271291.1	protein boule-like isoform 5
NM_033030.6	NP_149019.1	protein boule-like isoform 2
NM_197970.3	NP_932074.1	protein boule-like isoform 1

BOLL Protein Structure

RRM_1

0
100
200
283 a.a.

Protein Preferred Names

Protein Names

protein boule-like

bol, boule-like

Related Diseases

Diseases

Alias

Male Infertility

Infertility, Male	Infertility Male
Male Sterility	Absolute Infertility

Fibroepithelial Polyp Of Urethra

Urethral Fibroepithelial Polyp

Urethra Fibroepithelial Polyp

Urethral Syndrome

Urethral Disease	Urethral Diseases
Urethra Disease	Abnormality Of The Urethra
Urethral Disorders

Spermatogenic Failure

Azoospermia	Spgf
Spermatogenic Failure, Susceptibility To	Absent Sperm
Aspermatogenesis	Infertility Due To Azoospermia
Hypospermatogenesis	Azoospermatism

Urethral Stricture

Ankylurethria	Urethral Stenosis
Urethral Contracture	Urethral Obstruction
Meatal Stenosis Nos	Constriction Of Urethra
Contraction Of Urethra	Stricture Of Urinary Meatus
Urethral Obliteration	Urethral Narrowing
Pinpoint Meatus	Pinhole Meatus Nos
Urethral Occlusion

Balanitis Xerotica Obliterans

Penile Lichen Sclerosus

Penile Leukoplakia

Vulvar Dystrophy

Dystrophy Of Vulva

Dracunculiasis

Guinea Worm Disease	Dracontiasis
Dracunculosis	Infection By Dracunculus Medinensis
Gwd	Guinea Worm Infection
Parasitic Infection Caused By Dracunculus Medinensis	Medina Worm Disease
Medinensis	Medina Worm Infestation
Dracunculus Medinensis Infestation	Guinea Worm Infestation

Urethral Diverticulum

Urethral Sacculation

Spermatogenic Failure, X-Linked, 1

Sertoli Cell-Only Syndrome	Germinal Cell Aplasia
Del Castillo Syndrome	SPGFX1
X-Linked Spermatogenic Failure 1	Congenital Absence Of Germinal Epithelium Of Testes

Spermatogenic Failure, Y-Linked, 2

SPGFY2	Spermatogenic Failure, Nonobstructive, Y-Linked
Y-Linked Spermatogenic Failure 2	Azoospermia, Nonobstructive, Y-Linked
Oligozoospermia, Nonobstructive, Y-Linked	Oligospermia, Nonobstructive, Y-Linked
Spermatogenic Arrest, Y-Linked	Nonobstructive Y-Linked Spermatogenic Failure
Spermatogenic Failure Y-Linked 2	Azoospermia Non-Obstructive Y-Linked
Non-Obstructive Azoospermia And Infertility	Oligospermia Non-Obstructive Y-Linked
Oligozoospermia Non-Obstructive Y-Linked	Spermatogenic Arrest Y-Linked
Spermatogenic Failure Nonobstructive Y-Linked

Oligospermia

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome

Icf Syndrome	Immunodeficiency Syndrome, Variable
Ciid	Centromeric Instability, Immunodeficiency Syndrome
Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16	Icf

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01575	BOLL Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	BOLL	VGNC	VGNC:38497
Rattus norvegicus	BOLL	RGD	RGD:1559527
Felis catus	BOLL	VGNC	VGNC:60148
Bos taurus	BOLL	VGNC	VGNC:26539
Macaca mulatta	BOLL	VGNC	VGNC:70310
Mus musculus	BOLL	MGD	MGI:1922638