2. Gene
  3. DIAPH2 - diaphanous related formin 2 Gene

DIAPH2 - diaphanous related formin 2 Gene

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

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

Gene ID: 1730 | Gene type: protein coding

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
  • 200
  • 400
  • 600
  • 800
  • 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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS03764 DIAPH2 Human Pre-designed siRNA Set A Pre-designed Sets / 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