1. Gene
  2. MYO18B - myosin XVIIIB Gene

MYO18B - myosin XVIIIB Gene

中文名称:肌球蛋白 XVIIIB

种属: Homo sapiens

同用名: KFS4

基因 ID: 84700 | 基因类型: protein coding

关于 MYO18B

Cytogenetic location: 22q12.1 Genomic coordinates (GRCh38): 22:25,742,188-26,063,847 (from NCBI)

This gene has 10 transcripts (splice variants), 188 orthologues, 43 paralogues and is associated with 3 phenotypes. Biased expression in heart (RPKM 11.4) and testis (RPKM 1.5).

功能概要

由该基因编码的蛋白质在细胞核中时可调节肌肉特异性基因,在细胞质中时可影响细胞内运输。编码的蛋白质作为同型二聚体发挥作用,并可能与 F 肌动蛋白相互作用。该基因的突变与肺癌有关。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung Cancer. [provided by RefSeq, Jul 2008]

MYO18B 基因产物(2)

mRNA Protein Name
NM_001318245.2 NP_001305174.1 unconventional myosin-XVIIIb isoform 1
NM_032608.7 NP_115997.5 unconventional myosin-XVIIIb isoform 2
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of unconventional myosin complex IDA
IDA: 通过直接分析推断
12547197 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

MYO18B 蛋白结构

Myosin_head

Myosin_head: Myosin head (motor domain) (573 - 1206)

Myosin_head

Myosin_head: Myosin head (motor domain) (1239 - 1321)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2400
  • 2567 a.a.
蛋白主名 其他名称

unconventional myosin-XVIIIb

myosin 18B

关联疾病

疾病名称 别名
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism

Klippel-Feil Anomaly-Myopathy-Facial Dysmorphism Syndrome

KFS4

Klippel-Feil Syndrome 4, Autosomal Recessive, With Myopathy And Facial Dysmorphism

Klippel-Feil Syndrome

Cervical Vertebral Fusion

Congenital Dystrophia Brevicollis

Cervical Fusion Syndrome

Klippel-Feil Deformity

Autosomal Dominant Klippel-Feil Syndrome

Congenital Synostosis Of Cervical Vertebrae

Klippel-Feil And Turner Syndrome

Klippel-Feil Deformity, Deafness And Facial Asymmetry

Klippel Feil Syndrome

Cervical Vertebral Fusion Syndrome

Dystrophia Brevicollis Congenita

Fusion Of Cervical Vertebrae

Kfs

Klippel-Feil Sequence

Vertebral Cervical Fusion Syndrome

Klippel-Feil Syndrome, Autosomal Dominant

Klippel-Feil Malformation

Isolated Klippel-Feil Syndrome

Klippel-Feil Syndrome 2, Autosomal Recessive

Klippel-Feil Syndrome 2

KFS2

Cervical Vertebral Fusion Autosomal Recessive

Kfs, Autosomal Recessive

Cervical Vertebral Fusion, Autosomal Recessive

Kfs Autosomal Recessive

Klippel-Feil Syndrome, Type 2, Autosomal Recessive

Klippel Feil Syndrome Recessive Type

Klippel-Feil Syndrome 4
Klippel-Feil Syndrome 1, Autosomal Dominant

KFS1

Cervical Vertebral Fusion Autosomal Dominant

Kfs

Cervical Vertebral Fusion, Autosomal Dominant

Cervical Vertebral Fusion Congenital

Congenital Klippel-Feil Segment

Fused Cervical Segments Congenital

Isolated Klippel-Feil Syndrome

Klippel-Feil Malformation

Klippel-Feil Sequence

Klippel-Feil Syndrome, Type 1, Autosomal Dominant

Klippel-Feil Syndrome, Autosomal Dominant

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Dyslexia
Myopathy

Muscular Diseases

Myopathies

Myopathy, Congenital, Bailey-Bloch

Native American Myopathy

Nam

MYPBB

Myopathy, Congenital, Baily-Bloch

Anti-Hmg-Coa Myopathy

Anti-Srp Myopathy

Autoimmune Necrotizing Myositis

Imnm

Immune Myopathy With Myocyte Necrosis

Immune-Mediated Necrotizing Myopathy

Myopathy, Congenital, With Myopathic Facies, Scoliosis, And Malignant Hyperthermia

Necrotizing Autoimmune Myopathy

Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome

Congenital Myopathy With Cleft Palate And Malignant Hyperthermia

Dyscalculia

Disorder Of Arithmetical Skills

Mathematics Disorder

Developmental Arithmetic Disorder

Congenital Structural Myopathy
Multiple Pterygium Syndrome, Escobar Variant

Multiple Pterygium Syndrome

Pterygium

Escobar Syndrome

EVMPS

Pterygium Syndrome

Autosomal Recessive Multiple Pterygium Syndrome

Pterygium Colli Syndrome

Pterygium Universale

Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome

Escobar Variant Multiple Pterygium Syndrome

Multiple Pterygium Syndrome, Nonlethal Type

Surfer'S Eye

Multiple Pterygium Syndrome Escobar Type

Multiple Pterygium Syndrome Nonlethal Type

Familial Pterygium Syndrome

Pterygium Colli

Multiple Pterygium Syndrome, Non-Lethal Type

Nonlethal Type Multiple Pterygium Syndrome

Pterygium Syndrome, Multiple, Escobar Type

Pterygium Of Eye

Web Eye

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita

Arthrogryposis

Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome

Amc

Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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
Felis catus MYO18B VGNC VGNC:82549
Canis familiaris MYO18B VGNC VGNC:43558
Bos taurus MYO18B VGNC VGNC:31814
Macaca mulatta MYO18B VGNC VGNC:74985
Rattus norvegicus MYO18B RGD RGD:1594542
Mus musculus MYO18B MGD MGI:1921626