Seroatlas · Human Serome Atlas

GNB5

Guanine nucleotide-binding protein subunit beta-5

Also known as: GB5, GNB5_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: O14775
Gene: GNB5
Ensembl: ENSG00000069966
Chromosome: 15
Canonical length: 395 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, RAS pathway related proteins
Subcellular location: Nuclear speckles,Centrosome,Rods & Rings

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. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

395 residues, UniProt reviewed canonical sequence.

>O14775|GNB5
     1  MCDQTFLVNV FGSCDKCFKQ RALRPVFKKS QQLSYCSTCA EIMATEGLHE NETLASLKSE
    61  AESLKGKLEE ERAKLHDVEL HQVAERVEAL GQFVMKTRRT LKGHGNKVLC MDWCKDKRRI
   121  VSSSQDGKVI VWDSFTTNKE HAVTMPCTWV MACAYAPSGC AIACGGLDNK CSVYPLTFDK
   181  NENMAAKKKS VAMHTNYLSA CSFTNSDMQI LTASGDGTCA LWDVESGQLL QSFHGHGADV
   241  LCLDLAPSET GNTFVSGGCD KKAMVWDMRS GQCVQAFETH ESDINSVRYY PSGDAFASGS
   301  DDATCRLYDL RADREVAIYS KESIIFGASS VDFSLSGRLL FAGYNDYTIN VWDVLKGSRV
   361  SILFGHENRV STLRVSPDGT AFCSGSWDHT LRVWA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GNB5 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: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.27
Highest tissue expression: 111 nTPM

Expression across tissuesHPA

Tissue

retina: 111 nTPM
cerebellum: 68 nTPM
ovary: 45 nTPM
cerebral cortex: 41 nTPM
parathyroid gland: 38 nTPM
kidney: 34 nTPM

Single-cell type

rod photoreceptor cells: 539 nCPM
cone photoreceptor cells: 381 nCPM
retinal bipolar cells: 337 nCPM
müller glia: 283 nCPM
megakaryocytes: 241 nCPM
platelets: 222 nCPM

Immune cell

naive B-cell: 44 nTPM
T-reg: 43 nTPM
memory B-cell: 42 nTPM
memory CD4 T-cell: 27 nTPM
memory CD8 T-cell: 25 nTPM
naive CD4 T-cell: 25 nTPM

Brain region

cerebral cortex: 72 nTPM
cerebellum: 69 nTPM
hypothalamus: 69 nTPM
pons: 63 nTPM
thalamus: 62 nTPM
basal ganglia: 59 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GNB5.

Disease | AllUniProt

Conditions GNB5 is implicated in, by any mechanism.

Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (LDMLS1) MIM:617173
Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (LDMLS2) MIM:617182

Disease | GeneticClinVar

32 pathogenic / likely-pathogenic of 228 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Gnb5-related intellectual disability-cardiac arrhythmia syndrome
Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
GNB5-related disorder
Inborn genetic diseases
Global developmental delay

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): 0.97
gnomAD pLI: 0
gnomAD missense Z: 1.5
DepMap mean gene effect: 0.03
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

GTPase activator activity
GTPase activity
protein-folding chaperone binding
signaling receptor complex adaptor activity
G-protein gamma-subunit binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GNB5 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 GNB5 as an antibody target. Whether an autoantibody or antibody against GNB5 could matter depends on whether native GNB5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GNB5 is annotated at the cell surface, where native GNB5 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label GNB5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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