Seroatlas · Human Serome Atlas

GRHL2

Grainyhead-like protein 2 homolog

Also known as: BOM, DFNA28, FLJ13782, GRHL2_HUMAN, TFCP2L3

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

Protein identityUniProt · HPA

UniProt accession: Q6ISB3
Gene: GRHL2
Ensembl: ENSG00000083307
Chromosome: 8
Canonical length: 625 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm
Quaternary structure: Homodimer

OverviewNCBI Gene

The protein encoded by this gene is a transcription factor that can act as a homodimer or as a heterodimer with either GRHL1 or GRHL3. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal dominant type 28 (DFNA28).[provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

625 residues, UniProt reviewed canonical sequence.

>Q6ISB3|GRHL2
     1  MSQESDNNKR LVALVPMPSD PPFNTRRAYT SEDEAWKSYL ENPLTAATKA MMSINGDEDS
    61  AAALGLLYDY YKVPRDKRLL SVSKASDSQE DQEKRNCLGT SEAQSNLSGG ENRVQVLKTV
   121  PVNLSLNQDH LENSKREQYS ISFPESSAII PVSGITVVKA EDFTPVFMAP PVHYPRGDGE
   181  EQRVVIFEQT QYDVPSLATH SAYLKDDQRS TPDSTYSESF KDAATEKFRS ASVGAEEYMY
   241  DQTSSGTFQY TLEATKSLRQ KQGEGPMTYL NKGQFYAITL SETGDNKCFR HPISKVRSVV
   301  MVVFSEDKNR DEQLKYWKYW HSRQHTAKQR VLDIADYKES FNTIGNIEEI AYNAVSFTWD
   361  VNEEAKIFIT VNCLSTDFSS QKGVKGLPLM IQIDTYSYNN RSNKPIHRAY CQIKVFCDKG
   421  AERKIRDEER KQNRKKGKGQ ASQTQCNSSS DGKLAAIPLQ KKSDITYFKT MPDLHSQPVL
   481  FIPDVHFANL QRTGQVYYNT DDEREGGSVL VKRMFRPMEE EFGPVPSKQM KEEGTKRVLL
   541  YVRKETDDVF DALMLKSPTV KGLMEAISEK YGLPVEKIAK LYKKSKKGIL VNMDDNIIEH
   601  YSNEDTFILN MESMVEGFKV TLMEI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GRHL2 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): 0.48
Highest tissue expression: 27 nTPM

Expression across tissuesHPA

Tissue

skin: 27 nTPM
prostate: 22 nTPM
esophagus: 19 nTPM
epididymis: 15 nTPM
salivary gland: 14 nTPM
breast: 12 nTPM

Single-cell type

prostatic glandular cells: 960 nCPM
respiratory ciliated cells: 321 nCPM
salivary ionocytes: 296 nCPM
salivary acinar cells: 276 nCPM
respiratory deuterosomal cells: 274 nCPM
prostatic hillock cells: 270 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

cerebral cortex: 1.1 nTPM
white matter: 0.6 nTPM
basal ganglia: 0.5 nTPM
hippocampal formation: 0.5 nTPM
thalamus: 0.4 nTPM
amygdala: 0.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GRHL2.

Disease | AllUniProt

Conditions GRHL2 is implicated in, by any mechanism.

Deafness, autosomal dominant, 28 (DFNA28) MIM:608641
Ectodermal dysplasia/short stature syndrome (ECTDS) MIM:616029
Corneal dystrophy, posterior polymorphous, 4 (PPCD4) MIM:618031

Disease | GeneticClinVar

27 pathogenic / likely-pathogenic of 344 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal dominant nonsyndromic hearing loss 28
GRHL2-related disorder
Corneal dystrophy
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Corneal dystrophy, posterior polymorphous, 4

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): 0.27
gnomAD pLI: 1
gnomAD missense Z: 1.93
DepMap mean gene effect: -0.12
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GRHL2 as an antibody target. Whether an autoantibody or antibody against GRHL2 could matter depends on whether native GRHL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GRHL2 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 GRHL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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