1. Gene
  2. MYO18B - myosin XVIIIB Gene

MYO18B - myosin XVIIIB Gene

Homo sapiens

Also known as KFS4

Gene ID: 84700 | Gene type: protein coding

About 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).

Summary

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 Products(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
Gene Ontology
  • Cellular Component
Cellular Component GO Annotation Evidence Reference Source
part of unconventional myosin complex IDA
IDA: Inferred from direct assay
12547197 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

MYO18B Protein Structure

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.
Protein Preferred Names Protein Names

unconventional myosin-XVIIIb

myosin 18B

Related Diseases

Diseases Alias
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

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

Orthologs Information

Species Symbol Source 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