1. Gene
  2. TRIOBP - TRIO and F-actin binding protein Gene

TRIOBP - TRIO and F-actin binding protein Gene

中文名称:TRIO 和 F-肌动蛋白结合蛋白

种属: Homo sapiens

同用名: TARA; TAP68; DFNB28; dJ37E16.4; HRIHFB2122

基因 ID: 11078 | 基因类型: protein coding

关于 TRIOBP

Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:37,697,048-37,776,556 (from NCBI)

This gene has 11 transcripts (splice variants), 275 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in spleen (RPKM 8.0), placenta (RPKM 7.0) and 25 other tissues.

功能概要

该基因编码的蛋白质具有 N 端 pleckstrin 同源结构域和 C 端卷曲螺旋区域。该蛋白质与三重奏相互作用,三重奏涉及神经组织发育和控制肌动蛋白细胞骨架组织、细胞运动和细胞生长。该蛋白质还与 F-肌动蛋白结合并稳定 F-肌动蛋白结构。该基因的突变与一种常染色体隐性非综合征性耳聋有关。已经为该基因发现了编码不同同种型的多个选择性剪接的转录物变体,但是一些转录物可能会受到无义介导的衰变 (NMD) 的影响。[RefSeq 提供,2008 年 11 月]

This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin Cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]

TRIOBP 基因产物(3)

mRNA Protein Name
NM_001039141.3 NP_001034230.1 TRIO and F-actin-binding protein isoform 6
NM_007032.5 NP_008963.3 TRIO and F-actin-binding protein isoform 1
NM_138632.2 NP_619538.2 TRIO and F-actin-binding protein isoform 2

TRIOBP 蛋白结构

PH

PH: PH domain (1781 - 1886)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2365 a.a.
蛋白主名 其他名称

TRIO and F-actin-binding protein

protein Tara

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 28

DFNB28

Autosomal Recessive Nonsyndromic Deafness 28

Autosomal Recessive Deafness 28

Deafness, Autosomal Recessive, 28

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 28

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 28

Deafness, Autosomal Recessive, Type 28

Non-Syndromic Genetic Deafness

Nonsyndromic Genetic Hearing Loss

Isolated Genetic Deafness

Isolated Genetic Hearing Loss

Non-Syndromic Genetic Hearing Loss

Nonsyndromic Hearing Loss

Nonsyndromic Deafness

Nonsyndromic Hearing Impairment

Nonsyndromic Hearing Loss And Deafness

Deafness, Nonsyndromic

Isolated Deafness

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Deafness, Autosomal Recessive
Deafness, Autosomal Recessive 79

DFNB79

Autosomal Recessive Nonsyndromic Deafness 79

Autosomal Recessive Deafness 79

Deafness, Autosomal Recessive, 79

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 79

Deafness, Autosomal Recessive, Type 79

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 Recessive Nonsyndromic Deafness 36

Autosomal Recessive Deafness 36

Dfnb36

Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement

Deafness, Autosomal Recessive 36

Deafness, Autosomal Recessive 93

DFNB93

Autosomal Recessive Nonsyndromic Deafness 93

Autosomal Recessive Deafness 93

Deafness, Autosomal Recessive, 93

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 93

Deafness, Autosomal Recessive, Type 93

Deafness, Autosomal Dominant 2b

DFNA2B

Autosomal Dominant Nonsyndromic Deafness 2b

Autosomal Dominant Deafness 2b

Deafness, Autosomal Dominant, 2b

Deafness, Autosomal Dominant, Type 2b

Deafness, Autosomal Dominant 58

DFNA58

Autosomal Dominant Nonsyndromic Deafness 58

Autosomal Dominant Deafness 58

Deafness, Autosomal Recessive 61

DFNB61

Autosomal Recessive Nonsyndromic Deafness 61

Autosomal Recessive Deafness 61

Deafness, Autosomal Recessive, 61

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 61

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 61

Deafness, Autosomal Recessive, Type 61

Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct

Enlarged Vestibular Aqueduct

DFNB4

Neurosensory Nonsyndromic Recessive Deafness 4

Enlarged Vestibular Aqueduct Syndrome

Nsrd4

Autosomal Recessive Nonsyndromic Deafness 4

Dilated Vestibular Aqueduct

Dva

Enlarged Vestibular Aqueduct, Digenic

Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct

Large Vestibular Aqueduct Syndrome

Deafness, Autosomal Recessive, 4

Deafness Neurosensory Autosomal Recessive 4

Eva

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4

Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct

Deafness, X-Linked 3

DFNX3

Dfn4

X-Linked Deafness 3

Deafness, X-Linked 4, Congenital Sensorineural

Congenital Sensorineural X-Linked Deafness 4

Deafness, Autosomal Dominant 3a

DFNA3A

Autosomal Dominant Nonsyndromic Deafness 3a

Autosomal Dominant Deafness 3a

Deafness, Autosomal Dominant, 3a

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3a

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3a

Deafness, Autosomal Dominant, Type 3a

Deafness, Autosomal Dominant 4b

DFNA4B

Autosomal Dominant Nonsyndromic Deafness 4b

Autosomal Dominant Deafness 4b

Deafness, Autosomal Dominant, 4b

Deafness, Autosomal Dominant, Type 4b

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 35

DFNB35

Autosomal Recessive Nonsyndromic Deafness 35

Autosomal Recessive Deafness 35

Deafness, Autosomal Recessive, 35

Deafness, Autosomal Recessive, Type 35

Deafness, Autosomal Recessive 25

DFNB25

Autosomal Recessive Nonsyndromic Deafness 25

Autosomal Recessive Deafness 25

Deafness, Autosomal Recessive, 25

Deafness, Autosomal Recessive, Type 25

Deafness, Autosomal Recessive 24

DFNB24

Deafness, Autosomal Recessive, 24

Autosomal Recessive Nonsyndromic Deafness 24

Autosomal Recessive Deafness 24

Deafness, Autosomal Recessive, Type 24

Deafness, Autosomal Recessive 42

DFNB42

Autosomal Recessive Nonsyndromic Deafness 42

Autosomal Recessive Deafness 42

Deafness, Autosomal Recessive, 42

Congenital Neurosensory Deafness Autosomal Recessive 42

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 42

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 42

Deafness, Autosomal Recessive, Type 42

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

Deafness, Autosomal Recessive 12

DFNB12

Deafness, Autosomal Recessive 12, Modifier Of

Autosomal Recessive Nonsyndromic Deafness 12

Autosomal Recessive Deafness 12

Deafness, Autosomal Recessive, 12

Congenital Neurosensory Deafness Autosomal Recessive 12

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12

Deafness, Autosomal Recessive, Type 12

Deafness, Autosomal Recessive 9

Auditory Neuropathy, Autosomal Recessive, 1

Neurosensory Nonsyndromic Recessive Deafness 9

DFNB9

Nsrd9

Autosomal Recessive Nonsyndromic Deafness 9

Autosomal Recessive Deafness 9

Nrsd9

AUNB1

Nonsyndromic Auditory Neuropathy Autosomal Recessive

Nsran

Deafness, Autosomal Recessive, 9

Deafness Neurosensory Autosomal Recessive 9

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 9

Non-Syndromic Recessive Hearing Loss 9

Deafness, Autosomal Recessive, Type 9

Auditory Neuropathy, Nonsyndromic Recessive

Deafness, Autosomal Dominant 10

DFNA10

Autosomal Dominant Nonsyndromic Deafness 10

Autosomal Dominant Deafness 10

Deafness, Autosomal Dominant, 10

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 10

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 10

Deafness, Autosomal Dominant, Type 10

Deafness, Autosomal Recessive 63

DFNB63

Autosomal Recessive Nonsyndromic Deafness 63

Autosomal Recessive Deafness 63

Deafness, Autosomal Recessive, 63

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 63

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 63

Deafness, Autosomal Recessive, Type 63

Deafness, Autosomal Recessive 1a

DFNB1A

Deafness, Digenic, Gjb2/Gjb3

Autosomal Recessive Nonsyndromic Deafness 1a

Deafness, Digenic, Gjb2/Gjb6

Deafness, Digenic Gjb2/Gjb6

Autosomal Recessive Deafness 1a

Deafness, Autosomal Recessive, 1a

Deafness Digenic Gjb2/Gjb3

Deafness Digenic Gjb2/Gjb6

Deafness Neurosensory Autosomal Recessive 1

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1

Nsrd1

Deafness, Autosomal Recessive, Type 1a

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Auditory System Disease

Ear Diseases

Ear And Mastoid Disease

Usher Syndrome, Type I

USH1

Usher Syndrome Type 1

Us1

Usher Syndrome, Type 1b

Usher Syndrome Type 1e

Retinitis Pigmentosa And Congenital Deafness

Usher Syndrome, Type Ie

USH1E

Usher Syndrome, Type 1e

Usher Syndrome, Type 1a

Usher Syndrome, Type Ib

Usher Syndrome Type 1b

Usher Syndrome Type Ie

Usher Syndrome Type I

Usher 1

Usher Syndrome, Type 1

Ush1a

Usher Syndrome, Type I, French Variety

Usher Syndrome, Type Ia

Usher Syndrome 1b

USH1B

Usher'S Syndrome Type 1b

Usher Syndrome Type Ib

Ushib

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes

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
Macaca mulatta TRIOBP VGNC VGNC:98463
Mus musculus TRIOBP MGD MGI:1349410
Canis familiaris TRIOBP VGNC VGNC:47843
Bos taurus TRIOBP VGNC VGNC:36357
Rattus norvegicus TRIOBP RGD RGD:1308485