This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of acti... See more...

Aliases for DIAPH1 Gene

Aliases for DIAPH1 Gene

  • Diaphanous Related Formin 1 2 3 5
  • Protein Diaphanous Homolog 1 3 4
  • LFHL1 2 3
  • HDIA1 2 3
  • DRF1 3 4
  • Diaphanous (Drosophila, Homolog) 1 2
  • Diaphanous Homolog 1 (Drosophila) 2
  • Diaphanous-Related Formin-1 4
  • DIAPH1 5
  • DFNA1 3
  • SCBMS 3
  • DIAP1 4
  • DIA1 3

External Ids for DIAPH1 Gene

Previous HGNC Symbols for DIAPH1 Gene

  • DFNA1

Previous GeneCards Identifiers for DIAPH1 Gene

  • GC05M140711
  • GC05M141477
  • GC05M140877
  • GC05M140923
  • GC05M140875
  • GC05M136039

Summaries for DIAPH1 Gene

Entrez Gene Summary for DIAPH1 Gene

  • This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for DIAPH1 Gene

DIAPH1 (Diaphanous Related Formin 1) is a Protein Coding gene. Diseases associated with DIAPH1 include Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia and Seizures, Cortical Blindness, And Microcephaly Syndrome. Among its related pathways are AGE/RAGE pathway and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include nucleotide binding. An important paralog of this gene is DIAPH2.

UniProtKB/Swiss-Prot Summary for DIAPH1 Gene

  • Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers (By similarity). Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization (By similarity). Required for cytokinesis, and transcriptional activation of the serum response factor (By similarity). DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics (By similarity). Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration (By similarity). Has neurite outgrowth promoting activity. Acts in a Rho-dependent manner to recruit PFY1 to the membrane (By similarity). In hear cells, it may play a role in the regulation of actin polymerization in hair cells (PubMed:20937854, PubMed:21834987, PubMed:26912466). The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex (PubMed:20937854, PubMed:21834987). It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity (PubMed:20937854, PubMed:21834987). In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization (PubMed:20937854, PubMed:21834987). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape (PubMed:20937854, PubMed:21834987). Plays a role in brain development (PubMed:24781755). Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity (By similarity).

Gene Wiki entry for DIAPH1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DIAPH1 Gene

Genomics for DIAPH1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DIAPH1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DIAPH1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DIAPH1

Top Transcription factor binding sites by QIAGEN in the DIAPH1 gene promoter:
  • AP-1
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • Sp1

Genomic Locations for DIAPH1 Gene

Latest Assembly
chr5:141,515,016-141,619,055
(GRCh38/hg38)
Size:
104,040 bases
Orientation:
Minus strand

Previous Assembly
chr5:140,894,588-140,998,567
(GRCh37/hg19 by Entrez Gene)
Size:
103,980 bases
Orientation:
Minus strand

chr5:140,894,583-140,998,622
(GRCh37/hg19 by Ensembl)
Size:
104,040 bases
Orientation:
Minus strand

Genomic View for DIAPH1 Gene

Genes around DIAPH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DIAPH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DIAPH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DIAPH1 Gene

Proteins for DIAPH1 Gene

  • Protein details for DIAPH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60610-DIAP1_HUMAN
    Recommended name:
    Protein diaphanous homolog 1
    Protein Accession:
    O60610
    Secondary Accessions:
    • A6NF18
    • B7ZKW2
    • E9PEZ2
    • Q17RN4
    • Q59FH8
    • Q9UC76

    Protein attributes for DIAPH1 Gene

    Size:
    1272 amino acids
    Molecular mass:
    141347 Da
    Quaternary structure:
    • Homodimer (By similarity). Interacts with the GTP-bound form of RHOA (PubMed:23325789). Interacts with RHOC, PFY1, MAPRE1, BAIAP2 and APC (By similarity). Interacts with SCAI (By similarity). Interacts with DCAF7, via FH2 domain (By similarity). Interacts with NCDN (By similarity). Interacts with OSBPL10, OSBPL2, VIM, TUBB and DYN1 (PubMed:23325789).
    SequenceCaution:
    • Sequence=BAB14533.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAD92719.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for DIAPH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DIAPH1 Gene

Post-translational modifications for DIAPH1 Gene

  • Phosphorylation at Thr-768 is stimulated by cAMP and regulates stability, complex formation and mitochondrial movement.
  • Ubiquitination at Lys311, Lys774, Lys855, Lys1224, and Lys1239
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DIAPH1 Gene

Domains & Families for DIAPH1 Gene

Gene Families for DIAPH1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DIAPH1 Gene

InterPro:
Blocks:
  • Actin-binding FH2
  • Formin Homology 1
  • DRF autoregulatory
  • Diaphanous FH3

Suggested Antigen Peptide Sequences for DIAPH1 Gene

GenScript: Design optimal peptide antigens:
  • Diaphanous-1 (A0RZB7_HUMAN)
  • Diaphanous-1 (A0RZB8_HUMAN)
  • cDNA FLJ61549, highly similar to Protein diaphanous homolog 1 (B4E2I7_HUMAN)
  • Diaphanous-related formin-1 (DIAP1_HUMAN)
  • DIAPH1 protein (Q17RN4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60610

UniProtKB/Swiss-Prot:

DIAP1_HUMAN :
  • The DAD domain regulates activation via by an autoinhibitory interaction with the GBD/FH3 domain (By similarity). This autoinhibition is released upon competitive binding of an activated GTPase (By similarity). The release of DAD allows the FH2 domain to then nucleate and elongate nonbranched actin filaments (By similarity).
  • Belongs to the formin homology family. Diaphanous subfamily.
Domain:
  • The DAD domain regulates activation via by an autoinhibitory interaction with the GBD/FH3 domain (By similarity). This autoinhibition is released upon competitive binding of an activated GTPase (By similarity). The release of DAD allows the FH2 domain to then nucleate and elongate nonbranched actin filaments (By similarity).
Family:
  • Belongs to the formin homology family. Diaphanous subfamily.
genes like me logo Genes that share domains with DIAPH1: view

Function for DIAPH1 Gene

Molecular function for DIAPH1 Gene

UniProtKB/Swiss-Prot Function:
Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers (By similarity). Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization (By similarity). Required for cytokinesis, and transcriptional activation of the serum response factor (By similarity). DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics (By similarity). Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration (By similarity). Has neurite outgrowth promoting activity. Acts in a Rho-dependent manner to recruit PFY1 to the membrane (By similarity). In hear cells, it may play a role in the regulation of actin polymerization in hair cells (PubMed:20937854, PubMed:21834987, PubMed:26912466). The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex (PubMed:20937854, PubMed:21834987). It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity (PubMed:20937854, PubMed:21834987). In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization (PubMed:20937854, PubMed:21834987). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape (PubMed:20937854, PubMed:21834987). Plays a role in brain development (PubMed:24781755). Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity (By similarity).
GENATLAS Biochemistry:
Drosophila diaphanous homolog 1,widely expressed in cochlea and many tissues,formin family,acting as a RHO effector and involved in cytokinesis,mutated in DFNA1

Phenotypes From GWAS Catalog for DIAPH1 Gene

Gene Ontology (GO) - Molecular Function for DIAPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003779 actin binding IEA --
GO:0005102 signaling receptor binding NAS 9360932
GO:0005515 protein binding IPI 18218625
GO:0017048 Rho GTPase binding IEA --
genes like me logo Genes that share ontologies with DIAPH1: view
genes like me logo Genes that share phenotypes with DIAPH1: view

Human Phenotype Ontology for DIAPH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DIAPH1 Gene

MGI Knock Outs for DIAPH1:

miRNA for DIAPH1 Gene

miRTarBase miRNAs that target DIAPH1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DIAPH1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DIAPH1 Gene

Localization for DIAPH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DIAPH1 Gene

Cell membrane. Cell projection, ruffle membrane. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Cytoplasm. Nucleus. Note=Membrane ruffles, especially at the tip of ruffles, of motile cells. {ECO:0000250 UniProtKB:O08808}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DIAPH1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 4
cytoskeleton 4
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DIAPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm ISS --
GO:0005815 microtubule organizing center IEA --
GO:0005819 spindle IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with DIAPH1: view

Pathways & Interactions for DIAPH1 Gene

genes like me logo Genes that share pathways with DIAPH1: view

Pathways by source for DIAPH1 Gene

3 GeneGo (Thomson Reuters) pathways for DIAPH1 Gene
  • G-protein signaling_RhoA regulation pathway
  • G-protein signaling_RhoB regulation pathway
  • Immune response CCR3 signaling in eosinophils
2 Qiagen pathways for DIAPH1 Gene
  • CDC42 Pathway
  • Transendothelial Migration of Leukocytes
1 Cell Signaling Technology pathway for DIAPH1 Gene

SIGNOR curated interactions for DIAPH1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for DIAPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization ISS --
GO:0007015 actin filament organization IEA --
GO:0007605 sensory perception of sound TAS,IEA --
GO:0008360 regulation of cell shape IMP 21834987
GO:0016043 cellular component organization IEA --
genes like me logo Genes that share ontologies with DIAPH1: view

Drugs & Compounds for DIAPH1 Gene

(1) Drugs for DIAPH1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with DIAPH1: view

Transcripts for DIAPH1 Gene

mRNA/cDNA for DIAPH1 Gene

3 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DIAPH1

Alternative Splicing Database (ASD) splice patterns (SP) for DIAPH1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^
SP1: - -
SP2: -
SP3:
SP4: -
SP5: - -
SP6:
SP7:
SP8:

ExUns: 22 ^ 23 ^ 24a · 24b · 24c
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8: -

Relevant External Links for DIAPH1 Gene

GeneLoc Exon Structure for
DIAPH1

Expression for DIAPH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DIAPH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DIAPH1 Gene

This gene is overexpressed in Muscle - Skeletal (x5.0) and Whole Blood (x4.0).

Protein differential expression in normal tissues from HIPED for DIAPH1 Gene

This gene is overexpressed in Lymph node (17.6), Peripheral blood mononuclear cells (16.8), and Platelet (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DIAPH1 Gene



Protein tissue co-expression partners for DIAPH1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DIAPH1

SOURCE GeneReport for Unigene cluster for DIAPH1 Gene:

Hs.529451

mRNA Expression by UniProt/SwissProt for DIAPH1 Gene:

O60610-DIAP1_HUMAN
Tissue specificity: Expressed in brain, heart, placenta, lung, kidney, pancreas, liver, skeletal muscle and cochlea. Expressed in platelets (PubMed:26912466).

Evidence on tissue expression from TISSUES for DIAPH1 Gene

  • Blood(4.7)
  • Nervous system(4.7)
  • Liver(4.5)
  • Heart(4.5)
  • Lung(4.5)
  • Kidney(2.7)
  • Muscle(2.7)
  • Skin(2.6)
  • Bone marrow(2.3)
  • Intestine(2.3)
  • Spleen(2.3)
  • Lymph node(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DIAPH1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • head
  • inner ear
  • middle ear
  • outer ear
Thorax:
  • heart
  • heart valve
Limb:
  • forearm
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with DIAPH1: view

Primer products for research

Orthologs for DIAPH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DIAPH1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DIAPH1 29
  • 98.8 (n)
Dog
(Canis familiaris)
Mammalia DIAPH1 29 30
  • 92.65 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DIAPH1 30
  • 88 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Diaph1 29
  • 87.93 (n)
Mouse
(Mus musculus)
Mammalia Diap1 29 30
  • 86.19 (n)
OneToOne
Diaph1 16
Cow
(Bos Taurus)
Mammalia DIAPH1 30
  • 86 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DIAPH1 30
  • 85 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DIAPH1 30
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia diaph1 29
  • 67.99 (n)
Str.15019 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.16463 29
Zebrafish
(Danio rerio)
Actinopterygii CABZ01057928.1 30
  • 68 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta dia 29 30 31
  • 51.33 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea cyk-1 30
  • 23 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 46 (a)
OneToMany
Species where no ortholog for DIAPH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DIAPH1 Gene

ENSEMBL:
Gene Tree for DIAPH1 (if available)
TreeFam:
Gene Tree for DIAPH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DIAPH1: view image
Alliance of Genome Resources:
Additional Orthologs for DIAPH1

Paralogs for DIAPH1 Gene

(4) SIMAP similar genes for DIAPH1 Gene using alignment to 14 proteins:

  • DIAP1_HUMAN
  • A0RZB7_HUMAN
  • A0RZB8_HUMAN
  • B4E2I7_HUMAN
  • B9ZVX0_HUMAN
  • E5RJ79_HUMAN
  • E7EMV0_HUMAN
  • E7ERW8_HUMAN
  • E7ET75_HUMAN
  • E9PEZ3_HUMAN
  • E9PHQ0_HUMAN
  • H7C2W8_HUMAN
  • H9KV28_HUMAN
  • Q96IL1_HUMAN
genes like me logo Genes that share paralogs with DIAPH1: view

Variants for DIAPH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DIAPH1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
1000092 Uncertain Significance: Deafness, autosomal dominant 1; Seizures, cortical blindness, and microcephaly syndrome 141,578,555(-) C/A
NM_005219.5(DIAPH1):c.1004G>T (p.Arg335Ile)
MISSENSE
1001456 Uncertain Significance: Deafness, autosomal dominant 1; Seizures, cortical blindness, and microcephaly syndrome 141,527,565(-) G/C
NM_005219.5(DIAPH1):c.3273+8C>G
INTRON
1004553 Uncertain Significance: Deafness, autosomal dominant 1; Seizures, cortical blindness, and microcephaly syndrome 141,580,750(-) T/C
NM_005219.5(DIAPH1):c.818A>G (p.Glu273Gly)
MISSENSE
1006010 Uncertain Significance: Deafness, autosomal dominant 1; Seizures, cortical blindness, and microcephaly syndrome 141,526,361(-) T/C
NM_005219.5(DIAPH1):c.3374A>G (p.Asp1125Gly)
MISSENSE
1007036 Uncertain Significance: Deafness, autosomal dominant 1; Seizures, cortical blindness, and microcephaly syndrome 141,528,842(-) C/T
NM_005219.5(DIAPH1):c.2878G>A (p.Val960Ile)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DIAPH1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DIAPH1 Gene

Variant ID Type Subtype PubMed ID
esv25744 CNV gain 19812545
nsv1109731 CNV deletion 24896259
nsv5033 CNV insertion 18451855
nsv516495 CNV gain+loss 19592680
nsv950417 CNV duplication 24416366

Variation tolerance for DIAPH1 Gene

Residual Variation Intolerance Score: 21.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.59; 44.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DIAPH1 Gene

Human Gene Mutation Database (HGMD)
DIAPH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DIAPH1
Leiden Open Variation Database (LOVD)
DIAPH1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DIAPH1 Gene

Disorders for DIAPH1 Gene

MalaCards: The human disease database

(19) MalaCards diseases for DIAPH1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DIAP1_HUMAN
  • Deafness, autosomal dominant 1, with or without thrombocytopenia (DFNA1) [MIM:124900]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Patients may have mild thrombocytopenia and enlarged platelets, although most of DFNA1 affected individuals do not have significant bleeding tendencies. {ECO:0000269 PubMed:22938506, ECO:0000269 PubMed:26912466, ECO:0000269 PubMed:27808407, ECO:0000269 PubMed:9360932}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Seizures, cortical blindness, and microcephaly syndrome (SCBMS) [MIM:616632]: A severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, short stature, and cortical blindness. {ECO:0000269 PubMed:24781755, ECO:0000269 PubMed:26463574}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for DIAPH1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DIAPH1: view

No data available for Genatlas for DIAPH1 Gene

Publications for DIAPH1 Gene

  1. Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. (PMID: 9360932) Lynch ED … King MC (Science (New York, N.Y.) 1997) 2 3 4 72
  2. Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1). (PMID: 27808407) Neuhaus C … Bolz HJ (Clinical genetics 2017) 3 4 72
  3. A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. (PMID: 26912466) Stritt S … Mumford AD (Blood 2016) 3 4 72
  4. Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. (PMID: 24781755) Ercan-Sencicek AG … State MW (European journal of human genetics : EJHG 2015) 3 4 72
  5. Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease. (PMID: 28815995) Ganaha A … Suzuki M (American journal of medical genetics. Part A 2017) 3 72

Products for DIAPH1 Gene

Sources for DIAPH1 Gene