Seroatlas · Human Serome Atlas

GNB4

Guanine nucleotide-binding protein subunit beta-4

Also known as: GBB4_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9HAV0
Gene: GNB4
Ensembl: ENSG00000114450
Chromosome: 3
Canonical length: 340 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, RAS pathway related proteins
Subcellular location: Golgi apparatus,Plasma membrane

OverviewNCBI Gene

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

340 residues, UniProt reviewed canonical sequence.

>Q9HAV0|GNB4
     1  MSELEQLRQE AEQLRNQIQD ARKACNDATL VQITSNMDSV GRIQMRTRRT LRGHLAKIYA
    61  MHWGYDSRLL VSASQDGKLI IWDSYTTNKM HAIPLRSSWV MTCAYAPSGN YVACGGLDNI
   121  CSIYNLKTRE GNVRVSRELP GHTGYLSCCR FLDDSQIVTS SGDTTCALWD IETAQQTTTF
   181  TGHSGDVMSL SLSPDMRTFV SGACDASSKL WDIRDGMCRQ SFTGHVSDIN AVSFFPNGYA
   241  FATGSDDATC RLFDLRADQE LLLYSHDNII CGITSVAFSK SGRLLLAGYD DFNCNVWDTL
   301  KGDRAGVLAG HDNRVSCLGV TDDGMAVATG SWDSFLRIWN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GNB4 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: Other membrane
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.24
Highest tissue expression: 32 nTPM

Expression across tissuesHPA

Tissue

skin: 32 nTPM
bone marrow: 32 nTPM
smooth muscle: 22 nTPM
appendix: 21 nTPM
esophagus: 21 nTPM
placenta: 21 nTPM

Single-cell type

microglia: 430 nCPM
kupffer cells: 196 nCPM
neutrophil progenitors: 165 nCPM
macrophages: 143 nCPM
vascular endothelial cells: 129 nCPM
cardiomyocytes: 113 nCPM

Immune cell

intermediate monocyte: 28 nTPM
myeloid DC: 25 nTPM
non-classical monocyte: 24 nTPM
classical monocyte: 21 nTPM
neutrophil: 15 nTPM
naive B-cell: 14 nTPM

Brain region

white matter: 57 nTPM
cerebral cortex: 55 nTPM
medulla oblongata: 48 nTPM
spinal cord: 47 nTPM
pons: 41 nTPM
thalamus: 38 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GNB4.

Disease | AllUniProt

Conditions GNB4 is implicated in, by any mechanism.

Charcot-Marie-Tooth disease, dominant intermediate F (CMTDIF) MIM:615185

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 328 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Charcot-Marie-Tooth disease dominant intermediate F

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): 0.7
gnomAD pLI: 0
gnomAD missense Z: 2.11
DepMap mean gene effect: 0.09
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

InteractionsUniProt · HPA

Protein binding partners of GNB4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

GNB1

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GNB4 as an antibody target. Whether an autoantibody or antibody against GNB4 could matter depends on whether native GNB4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GNB4 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 GNB4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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