DIAPH2 - diaphanous related formin 2 Gene

Also Known as DIA; POF; DIA2; DRF2; POF2; POF2A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1730

About DIAPH2

Cytogenetic location: Xq21.33 Genomic coordinates (GRCh38): X:96,684,842-97,604,997 (from NCBI)

This gene has 2 transcripts (splice variants), 216 orthologues, 18 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 5.5), fat (RPKM 5.4) and 25 other tissues.

Summary

The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene may play a role in the development and normal function of the ovaries. Defects in this gene have been linked to premature ovarian failure 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

DIAPH2 Products (2)

mRNA Protein Name
NM_006729.5 NP_006720.1 protein diaphanous homolog 2 isoform 156
NM_007309.4 NP_009293.1 protein diaphanous homolog 2 isoform 12C

DIAPH2 Protein Structure

Drf_GBD

Drf_GBD: Diaphanous GTPase-binding Domain (101 - 284)

Drf_FH3

Drf_FH3: Diaphanous FH3 Domain (292 - 482)

FH2

FH2: Formin Homology 2 Domain (629 - 1002)

Drf_DAD

Drf_DAD: DRF Autoregulatory Domain (1054 - 1068)

  • 0
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  • 1000
  • 1101 a.a.
Protein Preferred Names Protein Names

protein diaphanous homolog 2

  • Premature ovarian failure 2A

Related Diseases

Diseases Alias
Premature Ovarian Failure 2a

  • POF2A

  • Ovarian Failure, Premature, Type 2a
Blepharophimosis, Ptosis, And Epicanthus Inversus

  • Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome

  • BPES

  • Blepharophimosis Syndrome

  • Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 1

  • Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome

  • Bpes With Duane Retraction Syndrome

  • Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 2

  • Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 1

  • Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 2

  • Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

  • Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2

  • Bpes Type 2

  • Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Without Premature Ovarian Failure

  • Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus

  • 3q23 Microdeletion Syndrome

  • Bpes Plus

  • Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 1

  • Bpes Type 1

  • Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome With Premature Ovarian Failure

  • Blepharophimosis, Ptosis, Epicanthus Inversus

  • Autosomal Dominant Bpes Type I

  • Autosomal Recessive Bpes Type I

  • Bpes Type I

  • Bpes Type Ii

  • Bpes Without Ovarian Failure

  • Bpes With Ovarian Failure

  • Blepharophimosis Syndrome Type 1

  • Blepharophimosis Syndrome Type 2
Amenorrhea

  • Absence Of Menstruation

  • Amenia
Cryptophthalmos, Unilateral Or Bilateral, Isolated

  • Isolated Cryptophthalmia

  • CRYPTOP

  • Ankyloblepharon, Simple

  • Cryptophthalmos With Microphthalmia And Peters Anomaly

  • Unilateral Or Bilateral Isolated Cryptophthalmos
Cerebral Amyloid Angiopathy, Itm2b-Related, 2

  • Dementia, Familial Danish

  • Fdd

  • Familial Danish Dementia

  • Heredopathia Ophthalmootoencephalica

  • Hooe

  • Cerebellar Ataxia, Cataract, Deafness, And Dementia Or Psychosis

  • Adan Amyloidosis

  • Itm2b-Related Cerebral Amyloid Angiopathy 2

  • Itm2b Amyloidosis

  • Familial Cerebral Amyloid Angiopathy

  • Itm2b-Related Amyloidosis

  • Itm2b-Related Cerebral Amyloid Angiopathy

  • Familial Dementia, Danish Type

  • Cerebral Amyloid Angiopathy, Itm2b-Related 2

  • CAA-ITM2B2

  • Cerebellar Ataxia Cataract Deafness And Dementia Or Psychosis

  • Dementia, Familial, Danish
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
Premature Menopause

  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure

  • Hypergonadotropic Hypogonadism

  • Premature Ovarian Insufficiency

  • Menopause - Premature

  • Menopause Praecox

  • Menopause Premature

  • Menopause, Premature

  • Female Hypergonadotropic Hypogonadism

  • Hypergonadotrophic Ovarian Failure

  • Primary Female Hypogonadism

  • Pof - [Premature Ovarian Failure]

  • Ovarian Failure

  • Ovarian Secretion Suppression

  • Ovary Hyposecretion

  • Ovary Secretion Deficiency

  • Premature Menopause Nos
46 Xx Gonadal Dysgenesis

  • Ovarian Dysgenesis

  • Gonadal Dysgenesis, 46,Xx

  • Dysgenesis, Ovarian
Premature Ovarian Failure 1

  • Ovarian Failure, Premature

  • Fmr1-Related Primary Ovarian Insufficiency

  • Fragile X-Associated Primary Ovarian Insufficiency

  • POF1

  • Pofx

  • Hypergonadotropic Ovarian Failure, X-Linked

  • Pof

  • Primary Ovarian Insufficiency, Fragile X-Associated

  • Primary Ovarian Insufficiency 1

  • Ovarian Failure Premature

  • Premature Ovarian Failure, X-Linked

  • Fragile X Premature Ovarian Failure

  • Fmr1-Related Premature Ovarian Failure

  • Familial Premature Ovarian Failure

  • Idiopathic Familial Premature Ovarian Failure

  • Fxpoi

  • X-Linked Hypergonadotropic Ovarian Failure

  • Hypergonadotropic Ovarian Failure X-Linked

  • Poi

  • Premature Ovarian Failure X-Linked

  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure-1

  • Ovarian Failure, Premature, Type 1

  • Premature Ovarian Failure, Familial

  • Premature Menopause

  • Primary Hypogonadism

  • Turner Syndrome
Fanconi Anemia, Complementation Group A

  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia
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 (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03764 DIAPH2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus DIAPH2 VGNC VGNC:109569
Macaca mulatta DIAPH2 VGNC VGNC:71798
Canis familiaris DIAPH2 VGNC VGNC:39956
Rattus norvegicus DIAPH2 RGD RGD:1564399
Mus musculus DIAPH2 MGD MGI:1858500
Others DIAPH2 NCBI