Seroatlas · Human Serome Atlas

DIAPH2

Protein diaphanous homolog 2

Also known as: DIA, DIA2, DIAP2_HUMAN, POF, POF2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O60879
Gene: DIAPH2
Ensembl: ENSG00000147202
Chromosome: X
Canonical length: 1101 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoli,Endoplasmic reticulum,Vesicles

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1101 residues, UniProt reviewed canonical sequence.

>O60879|DIAPH2
     1  MEQPGAAASG AGGGSEEPGG GRSNKRSAGN RAANEEETKN KPKLNIQIKT LADDVRDRIT
    61  SFRKSTVKKE KPLIQHPIDS QVAMSEFPAA QPLYDERSLN LSEKEVLDLF EKMMEDMNLN
   121  EEKKAPLRNK DFTTKREMVV QYISATAKSG GLKNSKHECT LSSQEYVHEL RSGISDEKLL
   181  NCLESLRVSL TSNPVSWVNN FGHEGLGLLL DELEKLLDKK QQENIDKKNQ YKLIQCLKAF
   241  MNNKFGLQRI LGDERSLLLL ARAIDPKQPN MMTEIVKILS AICIVGEENI LDKLLGAITT
   301  AAERNNRERF SPIVEGLENQ EALQLQVACM QFINALVTSP YELDFRIHLR NEFLRSGLKT
   361  MLPDLKEKEN DELDIQLKVF DENKEDDLTE LSHRLNDIRA EMDDMNEVYH LLYNMLKDTA
   421  AENYFLSILQ HFLLIRNDYY IRPQYYKIIE ECVSQIVLHC SGMDPDFKYR QRLDIDLTHL
   481  IDSCVNKAKV EESEQKAAEF SKKFDEEFTA RQEAQAELQK RDEKIKELEA EIQQLRTQAQ
   541  VLSSSSGIPG PPAAPPLPGV GPPPPPPAPP LPGGAPLPPP PPPLPGMMGI PPPPPPPLLF
   601  GGPPPPPPLG GVPPPPGISL NLPYGMKQKK MYKPEVSMKR INWSKIEPTE LSENCFWLRV
   661  KEDKFENPDL FAKLALNFAT QIKVQKNAEA LEEKKTGPTK KKVKELRILD PKTAQNLSIF
   721  LGSYRMPYED IRNVILEVNE DMLSEALIQN LVKHLPEQKI LNELAELKNE YDDLCEPEQF
   781  GVVMSSVKML QPRLSSILFK LTFEEHINNI KPSIIAVTLA CEELKKSESF NRLLELVLLV
   841  GNYMNSGSRN AQSLGFKINF LCKIRDTKSA DQKTTLLHFI ADICEEKYRD ILKFPEELEH
   901  VESASKVSAQ ILKSNLASME QQIVHLERDI KKFPQAENQH DKFVEKMTSF TKTAREQYEK
   961  LSTMHNNMMK LYENLGEYFI FDSKTVSIEE FFGDLNNFRT LFLEAVRENN KRREMEEKTR
  1021  RAKLAKEKAE QEKLERQKKK KQLIDINKEG DETGVMDNLL EALQSGAAFR DRRKRIPRNP
  1081  DNRRVPLERS RSRHNGAISS K

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DIAPH2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.4
Highest tissue expression: 16 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 16 nTPM
blood vessel: 13 nTPM
placenta: 11 nTPM
skeletal muscle: 11 nTPM
liver: 11 nTPM
adipose tissue: 9.7 nTPM

Single-cell type

sertoli cells: 1,959 nCPM
neutrophil progenitors: 1,786 nCPM
choroid plexus epithelial cells: 1,355 nCPM
syncytiotrophoblasts: 1,295 nCPM
microglia: 1,164 nCPM
myonuclei: 1,101 nCPM

Immune cell

eosinophil: 3.1 nTPM
classical monocyte: 3 nTPM
intermediate monocyte: 2.7 nTPM
non-classical monocyte: 2.4 nTPM
myeloid DC: 2.2 nTPM
plasmacytoid DC: 2.1 nTPM

Brain region

choroid plexus: 42 nTPM
basal ganglia: 20 nTPM
hippocampal formation: 20 nTPM
cerebral cortex: 16 nTPM
amygdala: 14 nTPM
hypothalamus: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DIAPH2.

Disease | AllUniProt

Conditions DIAPH2 is implicated in, by any mechanism.

Premature ovarian failure 2A (POF2A) MIM:300511

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 265 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Primary amenorrhea

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.28
gnomAD pLI: 0.99
gnomAD missense Z: 1.83
DepMap mean gene effect: -0.04
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DIAPH2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DIAPH2 as an antibody target. Whether an autoantibody or antibody against DIAPH2 could matter depends on whether native DIAPH2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DIAPH2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DIAPH2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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