1. Gene
  2. MYH14 - myosin heavy chain 14 Gene

MYH14 - myosin heavy chain 14 Gene

中文名称:肌球蛋白重链 14

种属: Homo sapiens

同用名: DFNA4; MHC16; MYH17; PNMHH; DFNA4A; myosin; FP17425; NMHC II-C; NMHC-II-C

基因 ID: 79784 | 基因类型: protein coding

关于 MYH14

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:50,203,622-50,310,540 (from NCBI)

This gene has 10 transcripts (splice variants), 190 orthologues, 43 paralogues and is associated with 4 phenotypes. Broad expression in colon (RPKM 39.5), duodenum (RPKM 33.8) and 16 other tissues.

功能概要

该基因编码肌球蛋白超家族的一个成员。该蛋白质代表常规的非肌肉肌球蛋白;它不应与非常规肌球蛋白 14 (MYO14) 混淆。肌球蛋白是肌动蛋白依赖性运动蛋白,具有多种功能,包括调节胞质分裂、细胞运动和细胞极性。该基因的突变会导致一种形式的常染色体显性遗传性听力障碍。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2011 年 12 月]

This gene encodes a member of the Myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

MYH14 基因产物(3)

mRNA Protein Name
NM_001077186.2 NP_001070654.1 myosin-14 isoform 1
NM_001145809.2 NP_001139281.1 myosin-14 isoform 3
NM_024729.4 NP_079005.3 myosin-14 isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
contributes to actin filament binding IDA
IDA: 通过直接分析推断
24072716 GOA
contributes to microfilament motor activity IDA
IDA: 通过直接分析推断
24072716 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in actomyosin structure organization IDA
IDA: 通过直接分析推断
24072716 GOA
involved in mitochondrion organization IMP
IMP: 通过突变表型推断
21480433 GOA
involved in neuronal action potential IMP
IMP: 通过突变表型推断
21480433 GOA
involved in sensory perception of sound IMP
IMP: 通过突变表型推断
21480433 GOA
involved in skeletal muscle contraction IMP
IMP: 通过突变表型推断
21480433 GOA
involved in skeletal muscle tissue development IMP
IMP: 通过突变表型推断
21480433 GOA
involved in vocalization behavior IMP
IMP: 通过突变表型推断
21480433 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in actomyosin IDA
IDA: 通过直接分析推断
24072716 GOA
part of myosin II complex IDA
IDA: 通过直接分析推断
24072716 GOA
located in myosin II filament IDA
IDA: 通过直接分析推断
24072716 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

MYH14 蛋白结构

Myosin_head

Myosin_head: Myosin head (motor domain) (108 - 821)

Myosin_tail_1

Myosin_tail_1: Myosin tail (1124 - 1980)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2028 a.a.
蛋白主名 其他名称

myosin-14

MYH14 variant protein

关联疾病

疾病名称 别名
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss

Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome

PNMHH

Peripheral Neuropathy-Myopathy-Hoarseness-Deafness Syndrome

Neuropathy, Peripheral, Myopathy, Hoarseness, And Hearing Loss

Deafness, Autosomal Dominant 4a

Deafness, Autosomal Dominant 4

DFNA4A

Dfna4

Autosomal Dominant Nonsyndromic Deafness 4a

Autosomal Dominant Deafness 4a

Deafness, Autosomal Dominant, 4a

Deafness Autosomal Dominant 4

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 4

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 4

Deafness, Autosomal Dominant, Type 4a

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Isolated Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Deafness, Autosomal Dominant 17

DFNA17

Autosomal Dominant Nonsyndromic Deafness 17

Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

Autosomal Dominant Deafness 17

Late-Onset Progressive Hereditary Hearing Impairment Due To Cochleosaccular Degeneration

Nonsyndromic Hereditary Deafness Dfna17

Deafness, Autosomal Dominant, 17

Cochleosaccular Degeneration

Deafness, Autosomal Dominant, Type 17

Cochleosaccular Degeneration Of The Inner Ear And Progressive Cataracts

Myh-9 Related Disease

Myh9-Related Disease

Myh9-Rd

Myh9-Related Disorder

Myh9-Related Syndrome

Myh9-Related Syndromic Thrombocytopenia

Sebastian Syndrome

Deafness, Autosomal Dominant 22

DFNA22

Deafness, Autosomal Dominant 22, With Hypertrophic Cardiomyopathy

Autosomal Dominant Nonsyndromic Deafness 22

Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome

Autosomal Dominant Deafness 22

Progressive Neurosensory Deafness-Hypertrophic Cardiomyopathy Syndrome

Progressive Neurosensory Hearing Loss-Hypertrophic Cardiomyopathy Syndrome

Progressive Sensorineural Deafness-Hypertrophic Cardiomyopathy Syndrome

DFNHCM

Deafness, Autosomal Dominant, 22

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 22

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 22

Deafness, Autosomal Dominant, Type 22

Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Deafness, Autosomal Dominant 6

DFNA6

Dfna14

Dfna38

Deafness, Autosomal Dominant 6/14/38

Autosomal Dominant Nonsyndromic Deafness 6

Deafness, Autosomal Dominant 14

Deafness, Autosomal Dominant 38

Autosomal Dominant Deafness 14

Autosomal Dominant Deafness 38

Autosomal Dominant Deafness 6

Deafness, Autosomal Dominant, 6

Deafness Autosomal Dominant 14

Deafness Autosomal Dominant 38

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 6

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 6

Deafness, Autosomal Dominant 12

DFNA12

Dfna8

Deafness, Autosomal Dominant 8

Deafness, Autosomal Dominant 8/12

Autosomal Dominant Nonsyndromic Deafness 12

Autosomal Dominant Deafness 12

Autosomal Dominant Deafness 8

Deafness, Autosomal Dominant, 12

Deafness Autosomal Dominant 8

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 12

Deafness, Autosomal Dominant, Type 12

Deafness, Autosomal Dominant 48

DFNA48

Autosomal Dominant Nonsyndromic Deafness 48

Autosomal Dominant Deafness 48

Deafness, Autosomal Dominant, 48

Deafness Autosomal Dominant Due To Mutation In Myo1a

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 48

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 48

Deafness, Autosomal Dominant, Type 48

Axonal Neuropathy
Deafness, Autosomal Recessive 37

DFNB37

Autosomal Recessive Nonsyndromic Deafness 37

Autosomal Recessive Deafness 37

Deafness, Autosomal Recessive, 37

Congenital Neurosensory Deafness Autosomal Recessive 37

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 37

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 37

Deafness, Autosomal Recessive, Type 37

Myopathy

Muscular Diseases

Myopathies

Deafness, Autosomal Dominant 64

DFNA64

Autosomal Dominant Nonsyndromic Deafness 64

Autosomal Dominant Deafness 64

Deafness, Autosomal Dominant, 64

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 64

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 64

Deafness, Autosomal Dominant, Type 64

Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia

Konigsmark Syndrome

DFNA1

Autosomal Dominant Nonsyndromic Deafness 1

Lfhl1

Deafness, Autosomal Dominant 1

Autosomal Dominant Deafness 1

Autosomal Dominant Deafness 1, With Or Without Thrombocytopenia

Hereditary Low Frequency Hearing Loss 1

Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome

Diaph1-Related Sensorineural Deafness-Thrombocytopenia Syndrome

Hereditary Low-Frequency Hearing Loss

Hereditary Low-Frequency Sensorineural Hearing Loss

Lfsnhl1

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 1

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 1

Deafness, Autosomal Dominant, Type 1

Deafness, Autosomal Recessive 30

DFNB30

Autosomal Recessive Nonsyndromic Deafness 30

Autosomal Recessive Deafness 30

Deafness, Autosomal Recessive, 30

Deafness, Autosomal Recessive, Type 30

Autosomal Recessive Nonsyndromic Deafness 3

Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3

Dfnb3

Nrsd3

Deafness, Autosomal Recessive 3

Deafness, Autosomal Dominant 16

DFNA16

Autosomal Dominant Nonsyndromic Deafness 16

Autosomal Dominant Deafness 16

Deafness, Autosomal Dominant 21

DFNA21

Autosomal Dominant Nonsyndromic Deafness 21

Autosomal Dominant Deafness 21

Deafness, Autosomal Dominant, 21

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

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
Canis familiaris MYH14 VGNC VGNC:43538
Bos taurus MYH14 VGNC VGNC:31796
Mus musculus MYH14 MGD MGI:1919210
Rattus norvegicus MYH14 RGD RGD:1306821
Macaca mulatta MYH14 VGNC VGNC:75006
Felis catus MYH14 VGNC VGNC:63675