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

DIAPH3 - diaphanous related formin 3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as AN; DIA2; DRF3; AUNA1; NSDAN; diap3; mDia2

Gene ID: 81624 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

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)

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  • 1193 a.a.
Protein Preferred Names Protein Names

protein diaphanous homolog 3

diaphanous homolog 3

Related Diseases

Diseases Alias
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
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS03765 DIAPH3 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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