1. Gene
  2. B9D2 - B9 domain containing 2 Gene

B9D2 - B9 domain containing 2 Gene

中文名称:含 B9 域 2

种属: Homo sapiens

同用名: MKS10; MKSR2; ICIS-1; JBTS34; MKSR-2

基因 ID: 80776 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 B9 结构域蛋白,仅在纤毛生物中发现。该基因在粘膜纤毛分化过程中上调,编码的蛋白质定位于基体和纤毛。破坏该基因的表达会导致纤毛发生缺陷。[RefSeq 提供,2009 年 10 月]

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 基因产物(1)

mRNA Protein Name
NM_030578.4 NP_085055.2 B9 domain-containing protein 2
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
21602787 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centrosome IDA
IDA: 通过直接分析推断
19208769 GOA
located in ciliary basal body IDA
IDA: 通过直接分析推断
19208769 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

B9D2 蛋白结构

B9-C2

B9-C2: Ciliary basal body-associated, B9 protein (3 - 163)

  • 0
  • 100
  • 175 a.a.
蛋白主名 其他名称

B9 domain-containing protein 2

B9 protein domain 2

B9D2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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