GNG5B

Summary

GNG5B (G protein subunit gamma 5B, HGNC:24826) is a protein-coding gene on chromosome Xq23, encoding Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5B (A0A804HLA8). Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems.

Predicted to enable G-protein beta-subunit binding activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Predicted to be located in plasma membrane. Predicted to be part of heterotrimeric G-protein complex.

Source: NCBI Gene 347687 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001396022

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24826
Approved symbol	GNG5B
Name	G protein subunit gamma 5B
Location	Xq23
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000133136
Ensembl biotype	protein_coding
Entrez	347687

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000372054, ENST00000697560

RefSeq mRNA: 1 — MANE Select: NM_001396022 NM_001396022

CCDS: CCDS94650

Canonical transcript exons

ENST00000697560 — 1 exons

Exon	Start	End
ENSE00003970943	110346454	110346973

Expression profiles

Bgee: expression breadth broad, 87 present calls, max score 90.25.

Top tissues by expression

127 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.25	gold quality
bone marrow cell	CL:0002092	73.64	gold quality
bone marrow	UBERON:0002371	50.89	gold quality
liver	UBERON:0002107	40.56	gold quality
right lobe of liver	UBERON:0001114	40.47	gold quality
skeletal muscle tissue	UBERON:0001134	37.34	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
putamen	UBERON:0001874	35.84	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
nucleus accumbens	UBERON:0001882	35.03	gold quality
pituitary gland	UBERON:0000007	34.19	gold quality
muscle tissue	UBERON:0002385	33.97	gold quality
placenta	UBERON:0001987	33.87	gold quality
adenohypophysis	UBERON:0002196	33.76	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
caudate nucleus	UBERON:0001873	31.42	gold quality
right frontal lobe	UBERON:0002810	31.27	gold quality
tonsil	UBERON:0002372	31.07	silver quality
blood	UBERON:0000178	31.04	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
prefrontal cortex	UBERON:0000451	30.88	gold quality
frontal cortex	UBERON:0001870	30.52	gold quality
heart left ventricle	UBERON:0002084	30.13	gold quality
Brodmann (1909) area 9	UBERON:0013540	29.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
brain	UBERON:0000955	29.09	gold quality
urinary bladder	UBERON:0001255	29.08	gold quality
cerebral cortex	UBERON:0000956	28.83	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.86

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	gng5	ENSDARG00000039830
mus_musculus	Gng5c	ENSMUSG00000117145
drosophila_melanogaster	Ggamma1	FBGN0004921

Paralogs (11): GNG11 (ENSG00000127920), GNGT1 (ENSG00000127928), GNG3 (ENSG00000162188), GNGT2 (ENSG00000167083), GNG8 (ENSG00000167414), GNG4 (ENSG00000168243), GNG12 (ENSG00000172380), GNG5 (ENSG00000174021), GNG7 (ENSG00000176533), GNG2 (ENSG00000186469), GNG10 (ENSG00000242616)

Protein

Protein identifiers

Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5B — A0A804HLA8 (reviewed: A0A804HLA8)

All UniProt accessions (1): A0A804HLA8

UniProt curated annotations — full annotation on UniProt →

Function. Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.

Subunit / interactions. G proteins are composed of 3 units; alpha, beta and gamma.

Subcellular location. Cell membrane.

Similarity. Belongs to the G protein gamma family.

RefSeq proteins (1): NP_001382951* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001770	G-protein_gamma	Family
IPR015898	G-protein_gamma-like_dom	Domain
IPR036284	GGL_sf	Homologous_superfamily

Pfam: PF00631

UniProt features (5 total): chain 1, propeptide 1, domain 1, modified residue 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A804HLA8-F1	89.00	0.65

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 65, 65

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 13 (showing top): GOCC_CYTOPLASMIC_SIDE_OF_MEMBRANE, GOCC_SIDE_OF_MEMBRANE, GOCC_MEMBRANE_PROTEIN_COMPLEX, GOCC_EXTRINSIC_COMPONENT_OF_CYTOPLASMIC_SIDE_OF_PLASMA_MEMBRANE, GOCC_EXTRINSIC_COMPONENT_OF_MEMBRANE, GOCC_EXTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE, GOCC_PLASMA_MEMBRANE_PROTEIN_COMPLEX, chrXq23, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOMF_G_PROTEIN_BETA_SUBUNIT_BINDING, DACH1_TARGET_GENES, GOCC_GTPASE_COMPLEX, GOCC_CYTOPLASMIC_SIDE_OF_PLASMA_MEMBRANE

GO Biological Process (2): G protein-coupled receptor signaling pathway (GO:0007186), signal transduction (GO:0007165)

GO Molecular Function (1): G-protein beta-subunit binding (GO:0031681)

GO Cellular Component (3): heterotrimeric G-protein complex (GO:0005834), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
G protein-coupled receptor activity	1
signal transduction	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
protein binding	1
extrinsic component of cytoplasmic side of plasma membrane	1
plasma membrane protein complex	1
GTPase complex	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A804HLA8, O14610, O60262, O97564, P02698, P30671, P38040, P43425, P50150, P50151, P50153, P50154, P54406, P59768, P61952, P61953, P61954, P63077, P63078, P63210, P63211, P63212, P63213, P63214, P63215, P63216, P63217, P63218, P63219, Q28024, Q4VT26, Q5E9F0, Q5R639, Q5R7U4, Q5RBQ0, Q5REH7, Q61012, Q61016, Q61017, Q6CPB4

Diamond homologs: A0A804HLA8, O60262, P30671, P38040, P43425, P50150, P50151, P50153, P59768, P63077, P63078, P63212, P63213, P63214, P63215, P63216, P63217, P63218, P63219, Q28024, Q4VT26, Q5R639, Q5R7U4, Q5RBQ0, Q5REH7, Q61016, Q80SZ7, Q9CXP8, Q9DAS9, Q9UBI6, Q9UK08, A0A1W2PPG7, O14610, O97564, P02698, P50154, P54406, P61952, P61953, P61954

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

197 predictions. Top by Δscore:

Variant	Effect	Δscore
X:110419132:GTGG:G	donor_gain	1.0000
X:110419133:TGGG:T	donor_loss	1.0000
X:110419134:GG:G	donor_gain	1.0000
X:110419135:GG:G	donor_gain	1.0000
X:110419136:G:GA	donor_loss	1.0000
X:110419133:TGG:T	donor_gain	0.9900
X:110419134:GGG:G	donor_gain	0.9900
X:110419136:G:GG	donor_gain	0.9900
X:110419131:TGTGG:T	donor_gain	0.9700
X:110419132:GTGGG:G	donor_gain	0.9700
X:110419133:TGGGT:T	donor_gain	0.9700
X:110419134:GGGTA:G	donor_gain	0.9500
X:110422132:G:GG	donor_gain	0.9400
X:110422130:GA:G	donor_gain	0.9300
X:110419135:G:A	donor_gain	0.9200
X:110419138:AAGT:A	donor_loss	0.9100
X:110419138:AAG:A	donor_gain	0.8300
X:110419127:GCATT:G	donor_gain	0.8200
X:110422251:C:T	donor_gain	0.8200
X:110420345:GGGA:G	donor_gain	0.7800
X:110420346:GGAG:G	donor_gain	0.7800
X:110422131:A:AG	donor_gain	0.7800
X:110419412:G:GG	donor_gain	0.7600
X:110419411:A:AG	donor_gain	0.7500
X:110419413:T:G	donor_gain	0.7100
X:110419139:AGTC:A	donor_gain	0.7000
X:110419414:T:A	donor_gain	0.7000
X:110419128:C:T	donor_gain	0.6700
X:110421139:C:G	acceptor_gain	0.6600
X:110421140:A:AG	acceptor_gain	0.6400

AlphaMissense

437 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1001622460 (X:110346020 A>G), RS1004488508 (X:110346643 T>C), RS1004838602 (X:110346905 G>A), RS1004970067 (X:110347265 GT>G), RS1005000966 (X:110346513 A>G), RS1005210664 (X:110348887 T>C), RS1006460952 (X:110348900 C>A), RS1008843959 (X:110347381 T>C), RS1009198921 (X:110348178 G>A), RS1011357236 (X:110347542 A>G), RS1011805987 (X:110345996 C>T), RS1012122349 (X:110348120 G>T), RS1014557701 (X:110348899 A>G), RS1014760841 (X:110346606 C>T), RS1015021543 (X:110348358 T>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.