2. Gene
  3. DIAPH3 - diaphanous related formin 3 Gene

DIAPH3 - diaphanous related formin 3 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：透明相关 formin 3

种属: Homo sapiens

同用名: AN; DIA2; DRF3; AUNA1; NSDAN; diap3; mDia2

基因 ID: 81624 | 基因类型: protein coding

关于 DIAPH3

Cytogenetic location: 13q21.2 Genomic coordinates (GRCh38): 13:59,665,583-60,163,928 (from NCBI)

This gene has 10 transcripts (splice variants), 212 orthologues, 18 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 3.1), placenta (RPKM 1.0) and 14 other tissues.

功能概要

该基因编码福尔明家族的透明亚科成员。该家族的成员参与肌动蛋白重塑并调节细胞运动和粘附。该基因的突变与常染色体显性遗传性听神经病 1 相关。已发现该基因编码不同亚型的多个转录本变体。[RefSeq 提供，2012 年 4 月]

This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

DIAPH3 基因产物(7)

mRNA Protein Name
NM_001042517.2 NP_001035982.1 protein diaphanous homolog 3 isoform a
NM_001258366.2 NP_001245295.1 protein diaphanous homolog 3 isoform c
NM_001258367.2 NP_001245296.1 protein diaphanous homolog 3 isoform d
NM_001258368.2 NP_001245297.1 protein diaphanous homolog 3 isoform e
NM_001258369.2 NP_001245298.1 protein diaphanous homolog 3 isoform f
NM_001258370.2 NP_001245299.1 protein diaphanous homolog 3 isoform g
NM_030932.4 NP_112194.2 protein diaphanous homolog 3 isoform b

DIAPH3 蛋白结构

Drf_GBD

Drf_GBD: Diaphanous GTPase-binding Domain (115 - 297)

Drf_FH3

Drf_FH3: Diaphanous FH3 Domain (304 - 492)

FH2

FH2: Formin Homology 2 Domain (637 - 1008)

Drf_DAD

Drf_DAD: DRF Autoregulatory Domain (1060 - 1074)

  • 0
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  • 400
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  • 800
  • 1000
  • 1193 a.a.
蛋白主名 其他名称

protein diaphanous homolog 3

diaphanous homolog 3

DIAPH3 抗体

目录号 产品名 应用 反应物种
HY-P89885 DIAPH3 Antibody (YA9229) WB, ICC/IF, IF-Tissue, IHC-P, IP, ELISA human

关联疾病

疾病名称 别名
Auditory Neuropathy, Autosomal Dominant 1

Autosomal Dominant Auditory Neuropathy 1

AUNA1

Nsdan

Auditory Neuropathy, Autosomal Dominant, 1

Auditory Neuropathy, Nonsyndromic Dominant

Nonsyndromic Dominant Auditory Neuropathy

Nonsyndromic Auditory Neuropathy Autosomal Dominant
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
Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies
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, X-Linked 5, With Peripheral Neuropathy

Deafness, X-Linked 5

DFNX5

Aunx1

Auditory Neuropathy, X-Linked, 1, With Peripheral Sensory Neuropathy

X-Linked Deafness 5

X-Linked Auditory Neuropathy With Peripheral Sensory Neuropathy Type 1

X-Linked Hsan With Deafness

X-Linked Auditory Neuropathy 1 With Peripheral Sensory Neuropathy

X-Linked Hereditary Sensory And Autonomic Neuropathy With Deafness

X-Linked Hsan With Hearing Loss

X-Linked Hereditary Sensory And Autonomic Neuropathy With Hearing Loss

Deafness, X-Linked, 5, With Peripheral Neuropathy

Deafness, X-Linked, Type 5
Anemia, Congenital Dyserythropoietic, Type Iiia

Congenital Dyserythropoietic Anemia, Type Iii

Cdan3

Congenital Dyserythropoietic Anemia Type Iii

Cda Iii

Congenital Dyserythropoietic Anemia Type 3

CDAN3A

Dyserythropoietic Anemia, Congenital, Type Iiia

Cda, Type Iiia

Anemia, Congenital Dyserythropoietic, Type Iii

Anemia With Multinucleated Erythroblasts

Cda Type 3

Cda Type Iii

Dyserythropoietic Anemia, Congenital Type 3

Cda, Type Iii

Erythroreticulosis, Hereditary Benign

Anaemia With Multinucleated Erythroblasts

Congenital Dyserythropoietic Anaemia Type 3

Congenital Dyserythropoietic Anaemia Type Iii

Hereditary Benign Erythroreticulosis

Anemia, Congenital Dyserythropoietic, 3a

Anemia With Multinucleated Erythroblasts Erythroreticulosis, Hereditary Benign
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
Developmental And Epileptic Encephalopathy 4

DEE4

Epileptic Encephalopathy, Early Infantile, 4

Eiee4

Early Infantile Epileptic Encephalopathy 4

Stxbp1-Related Early-Onset Encephalopathy

Early Myoclonic Encephalopathy

Developmental And Epileptic Encephalopathy, 4

Stxbp1 Disorders

Stxbp1 Encephalopathy

Developmental And Epileptic Encephalopathy, Type 4

Early-Infantile Epileptic Encephalopathy 4

Stxbp1 Encephalopathy With Epilepsy

Stxbp1 Epileptic Encephalopathy

Stxbp1-Related Developmental And Epileptic Encephalopathy

Stxbp1-Related Epileptic Encephalopathy

Eme

Neonatal Epilepsy With Suppression-Burst Pattern

Encephalopathy, Epileptic, Early Infantile, Type 4
Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness
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
Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-168969 AA-BR-157 96.47% 否
HY-RS03765 DIAPH3 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21845 Diaph3 Mouse Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus DIAPH3 VGNC VGNC:28062
Mus musculus DIAPH3 MGD MGI:1927222
Macaca mulatta DIAPH3 VGNC VGNC:106257
Felis catus DIAPH3 VGNC VGNC:61489
Canis familiaris DIAPH3 VGNC VGNC:39957
Rattus norvegicus DIAPH3 RGD RGD:1593287
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