B9D2 - B9 domain containing 2 Gene

Homo sapiens

Also known as MKS10; MKSR2; ICIS-1; JBTS34; MKSR-2

Gene ID: 80776 | Gene type: protein coding

About B9D2

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:41,354,417-41,364,149 (from NCBI)

This gene has 4 transcripts (splice variants), 163 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 2.6), testis (RPKM 2.4) and 25 other tissues.

Summary

This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009]

B9D2 Products(1)

mRNA	Protein	Name
NM_030578.4	NP_085055.2	B9 domain-containing protein 2

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21602787	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in centrosome	IDA IDA: Inferred from direct assay	19208769	GOA
located in ciliary basal body	IDA IDA: Inferred from direct assay	19208769	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

B9D2 Protein Structure

B9-C2

0
100
175 a.a.

Protein Preferred Names

Protein Names

B9 domain-containing protein 2

B9 protein domain 2

B9D2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	B9D2	Q9BPU9	ALKBH7	Homo sapiens	Q9BT30	Validated Y2H	32296183
Intra	B9D2	Q9BPU9	B9D1	Homo sapiens	Q9UPM9	Anti Tag CoIP	32726168
Intra	B9D2	Q9BPU9	B9D1	Homo sapiens	Q9UPM9	Anti Tag CoIP	33961781
Intra	B9D2	Q9BPU9	B9D1	Homo sapiens	Q9UPM9	TAP	27173435
Intra	B9D2	Q9BPU9	B9D1	Homo sapiens	Q9UPM9	BioID	26638075
Intra	B9D2	Q9BPU9	IFT70B	Homo sapiens	Q8N4P2	Y2H	21602787
Intra	B9D2	Q9BPU9	MKS1	Homo sapiens	Q9NXB0	BioID	26638075
Intra	B9D2	Q9BPU9	MKS1	Homo sapiens	Q9NXB0	Anti Tag CoIP	32726168
Intra	B9D2	Q9BPU9	MKS1	Homo sapiens	Q9NXB0	Anti Tag CoIP	33961781
Intra	B9D2	Q9BPU9	VPS25	Homo sapiens	Q9BRG1	Validated Y2H	32296183
Intra	B9D2	Q9BPU9	INVS	Homo sapiens	Q9Y283	Y2H	21602787

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Meckel Syndrome, Type 10

Joubert Syndrome 34	MKS10
Meckel Syndrome 10	JBTS34

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome	Meckel Syndrome
Dysencephalia Splanchnocystica	Meckel Syndrome 1
MKS1	Mks
Gruber Syndrome	Meckel-Gruber Syndrome, Type 1
Mes	Dysencephalia Splachnocystica
Meckel Gruber Syndrome	Meckel Syndrome Type 1

Joubert Syndrome 1

Joubert Syndrome	Jbts
Cerebellooculorenal Syndrome 1	JBTS1
Joubert-Boltshauser Syndrome	Cerebelloparenchymal Disorder Iv
Cpd4	Cors1
Joubert Syndrome And Related Disorders	Jsrd
Familial Aplasia Of The Vermis	Joubert Syndrome Related Disorders
Js	Cerebellar Vermis Agenesis
Cerebelloparenchymal Disorder 4	Agenesis Of Cerebellar Vermis
Cerebello-Oculo-Renal Syndrome	Cors
Joubert-Bolthauser Syndrome	Cpd Iv
Classic Joubert Syndrome	Joubert Syndrome Type A
Pure Joubert Syndrome	Cerebello-Oculo-Renal Syndrome 1
Joubert Syndrome-1	Joubert Syndrome, Type 1
Joubert'S Syndrome

Joubert Syndrome 14

JBTS14

Joubert Syndrome, Type 14

Meckel Syndrome, Type 2

MKS2	Meckel Syndrome 2
Meckel-Gruber Syndrome, Type 2	Meckel Syndrome Type 2

Polydactyly

Non-Syndromic Polydactyly	Polydactyly, Postaxial
Postaxial Polydactyly	Supernumerary Digit
Extra Digits	Hyperdactyly
Polydactylia	Polydactylism
Supernumerary Digits

Joubert Syndrome 5

JBTS5

Joubert Syndrome, Type 5

Joubert Syndrome 23

JBTS23

Joubert Syndrome, Type 23

Nephronophthisis 2

NPHP2	Nph2
Nephronophthisis 2, Infantile	Infantile Nephronophthisis 2
Infantile Nephronophthisis	Nephronophthisis, Type 2

Coach Syndrome 1

Coach Syndrome	Joubert Syndrome With Congenital Hepatic Fibrosis
Gentile Syndrome	Joubert Syndrome With Hepatic Defect
Js-H	COACH1
Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis	Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis
Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Ataxia Congenital, Coloboma, And Hepatic Fibrosis	Cerebellar Vermis Hypo/Aplasia Oligophrenia Congenital Ataxia Ocular Coloboma And Hepatic Fibrosis

Senior-Loken Syndrome 1

Senior-Loken Syndrome	Renal Dysplasia And Retinal Aplasia
Renal-Retinal Syndrome	Loken-Senior Syndrome
Juvenile Nephronophthisis With Leber Amaurosis	SLSN1
Senior-Loken Syndrome-1	Loken Senior Syndrome
Senior Loken Syndrome	Renal Dysplasia Retinal Aplasia
Nephronophthisis With Retinal Dystrophy	Renal Dysplasia-Retinal Aplasia Syndrome
Slsn

Joubert Syndrome 3

JBTS3	Joubert Syndrome With Ocular Defect
Joubert Syndrome With Ocular Anomalies	Js-O
Joubert Syndrome With Retinopathy	Joubert Syndrome-3
Joubert Syndrome, Type 3

Nephronophthisis

Medullary Cystic Disease	Medullary Cystic Kidney
Nph	Nphp
Kidney Disease, Cystic, Medullary

Asphyxiating Thoracic Dystrophy

Jeune Thoracic Dystrophy	Jeune Syndrome
Asphyxiating Thoracic Dysplasia	Short-Rib Thoracic Dysplasia With Or Without Polydactyly
Thoracic Pelvic Phalangeal Dystrophy	Asphyxiating Thoracic Chondrodystrophy
Atd	Chondroectodermal Dysplasia-Like Syndrome
Infantile Thoracic Dystrophy	Jeune Thoracic Dysplasia
Thoracic Asphyxiant Dystrophy	Thoracic-Pelvic-Phalangeal Dystrophy
Short-Rib Thoracic Dysplasia Without Polydactyly	Asphyxiating Thoracic Dystrophy Of The Newborn
Asphyxiating Thorax Dystrophy

Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 1	Jeune Syndrome
SRTD1	Atd1
Asphyxiating Thoracic Dystrophy Of The Newborn	Jatd
Jeune Asphyxiating Thoracic Dystrophy	Thoracic-Pelvic-Phalangeal Dystrophy
Atd	Asphyxiating Thoracic Dystrophy
Chondroectodermal Dysplasia-Like Syndrome	Infantile Thoracic Dystrophy
Jeune'S Syndrome	Thoracic Pelvic Phalangeal Dystrophy
Jeune Thoracic Dystrophy

Cystic Kidney Disease

Renal Cyst	Simple Renal Cyst
Kidney Cysts	Kidney Diseases, Cystic
Renal Cysts	Kidney Cyst
Cystic Kidney	Congenital Cystic Kidney Disease
Cystic Kidney Diseases	Bosniak 1 Cyst

Visceral Heterotaxy

Situs Ambiguus	Heterotaxia
Heterotaxy Syndrome	Heterotaxy
Lateralization Defect	Situs Ambiguous
Left Isomerism	Htx
Ivemark Syndrome	Right Isomerism
Situs Ambiguus Viscerum	Incomplete Situs Inversus
Partial Situs Inversus	Heterotaxy, Visceral
Asplenia Syndrome	Bilateral Left-Sidedness
Polysplenia Syndrome	Moller Syndrome

Coloboma Of Macula

Coloboma	Congenital Ocular Coloboma
Microphthalmia, Isolated, With Coloboma	Agenesis Of Macula
Hereditary Macular Coloboma	Ocular Coloboma
Coloboma Of Eye	Macular Coloboma
Uveoretinal Coloboma

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-16637S	Folic acid-d2		/	Unkown
HY-RS01328	B9D2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	B9D2	RGD	RGD:1566122
Bos taurus	B9D2	VGNC	VGNC:26397
Mus musculus	B9D2	MGD	MGI:2387643
Macaca mulatta	B9D2	VGNC	VGNC:70142

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