DIAPH3 - diaphanous related formin 3 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 81624

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_FH3

FH2

Drf_DAD

0
200
400
600
800
1000
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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-168969	AA-BR-157		96.47%	Unkown
HY-RS03765	DIAPH3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21845	Diaph3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28361	Diaph3 Rat Pre-designed siRNA Set A		/	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
Others	DIAPH3	NCBI