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DIAPH2 diaphanous related formin 2 [ Homo sapiens (human) ]

Gene ID: 1730, updated on 5-Jul-2020

Summary

Official Symbol
DIAPH2provided by HGNC
Official Full Name
diaphanous related formin 2provided by HGNC
Primary source
HGNC:HGNC:2877
See related
Ensembl:ENSG00000147202 MIM:300108
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DIA; POF; DIA2; DRF2; POF2; POF2A
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]
Expression
Ubiquitous expression in testis (RPKM 5.5), fat (RPKM 5.4) and 25 other tissues See more
Orthologs

Genomic context

See DIAPH2 in Genome Data Viewer
Location:
Xq21.33
Exon count:
28
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (96684663..97604997)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (95939650..96855597)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985714 Neighboring gene uncharacterized LOC105373296 Neighboring gene SKP2 pseudogene 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit B5 pseudogene 2 Neighboring gene replication protein A4 Neighboring gene RNA, 7SL, cytoplasmic 74, pseudogene Neighboring gene DIAPH2 antisense RNA 1 Neighboring gene NCKAP1 pseudogene 1 Neighboring gene endogenous retrovirus group FC1 Env polyprotein

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: RPA4

Homology

Clone Names

  • FLJ11167

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rho GTPase binding IEA
Inferred from Electronic Annotation
more info
 
actin binding IEA
Inferred from Electronic Annotation
more info
 
signaling receptor binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
actin filament organization IEA
Inferred from Electronic Annotation
more info
 
female gamete generation TAS
Traceable Author Statement
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
oogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
early endosome IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
protein diaphanous homolog 2
Names
diaphanous homolog 2
diaphorase-2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008433.2 RefSeqGene

    Range
    5001..920936
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006729.5NP_006720.1  protein diaphanous homolog 2 isoform 156

    See identical proteins and their annotated locations for NP_006720.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (156) represents the longer transcript, and encodes the longer isoform (isoform 156).
    Source sequence(s)
    AL391821, DB062196, U69179, Y15909
    Consensus CDS
    CCDS14467.1
    UniProtKB/Swiss-Prot
    O60879
    Related
    ENSP00000321348.8, ENST00000324765.13
    Conserved Domains (3) summary
    pfam02181
    Location:6281002
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:292480
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:101284
    Drf_GBD; Diaphanous GTPase-binding Domain
  2. NM_007309.3NP_009293.1  protein diaphanous homolog 2 isoform 12C

    See identical proteins and their annotated locations for NP_009293.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12C) differs in the 3' UTR and the 3' coding region, compared to variant 156. The resulting isoform (isoform 12C) contains a distinct C-terminus, compared to isoform 156.
    Source sequence(s)
    AW276516, BX363708, Y15909
    Consensus CDS
    CCDS14468.1
    UniProtKB/Swiss-Prot
    O60879
    Related
    ENSP00000362140.4, ENST00000373049.8
    Conserved Domains (3) summary
    pfam02181
    Location:6281002
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:292480
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:101284
    Drf_GBD; Diaphanous GTPase-binding Domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    96684663..97604997
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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