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This gene encodes a member of the guanine nucleotide-binding, or G protein family. G proteins are heterotrimers consisting of alpha, beta and gamma subunits. The encoded protein is a member of the alpha family of G proteins, more specifically the alpha q subfamily of G proteins. The encoded protein may play a role in pertussis-toxin resistant activation of phospholipase C-beta and its downstream effectors.[provided by RefSeq, Feb 2009]
GNA14 (G Protein Subunit Alpha 14) is a Protein Coding gene. Diseases associated with GNA14 include Kaposiform Hemangioendothelioma and Angioma, Tufted. Among its related pathways are Sweet Taste Signaling and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include GTP binding and obsolete signal transducer activity. An important paralog of this gene is GNAQ.
Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand binding causes a receptor conformational change, detaching the G protein and switching it 'on'.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH09J077647 | Promoter/Enhancer | 1.3 | EPDnew Ensembl ENCODE | 600.7 | +0.7 | 708 | 3.6 | CTCF EZH2 ZFX ZNF444 YY1 ZNF217 POLR2A SIN3A SPI1 RAD21 | GNA14 RF00026-1123 RNU6-1303P RF00017-7643 VPS13A | |
GH09J077649 | Enhancer | 0.4 | ENCODE | 600.7 | -1.3 | -1258 | 0.2 | CTCF RAD21 ATF4 EZH2 | GNA14 piR-51855-043 RF00017-7643 GNAQ | |
GH09J077594 | Enhancer | 0.8 | Ensembl ENCODE | 11.5 | +51.7 | 51674 | 6.5 | POLR2A SP1 CTBP1 PKNOX1 ZNF217 NR2F2 NFIB RAD21 FOXA1 ZBTB40 | RNU6-1303P GNA14 lnc-VPS13A-3 L13714-477 RF00017-7643 VPS13A | |
GH09J078325 | Enhancer | 1 | Ensembl ENCODE CraniofacialAtlas | 4.9 | -677.2 | -677179 | 1.4 | IKZF1 FOXA1 TCF12 CBX3 TAF9B ZSCAN29 TRIM24 POLR2A NCOR1 NFIC | PSAT1 GNA14 AB372643-012 RF00017-7647 lnc-GNAQ-8 RF00017-7646 | |
GH09J077543 | Enhancer | 0.4 | Ensembl ENCODE | 11 | +104.7 | 104746 | 0.8 | TEAD4 | GNA14 RNU6-1303P NUTF2P3 piR-50444-477 VPS13A |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0001664 | G protein-coupled receptor binding | IBA | 21873635 |
GO:0003924 | GTPase activity | TAS,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0005525 | GTP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005834 | heterotrimeric G-protein complex | TAS,IBA | 21873635 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0070062 | extracellular exosome | HDA | 23533145 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | fMLP Pathway |
CCR3 Pathway in Eosinophils
.44
VEGF and S-1P Signaling
.44
fMLP Pathway
.43
|
CXCR4 Pathway
.39
Huntington's Disease Pathway
.31
|
2 | G-Beta Gamma Signaling |
G-Beta Gamma Signaling
.46
GHRH Signaling
.46
CRHR Pathway
.44
|
Relaxin Pathway
.37
Hedgehog Signaling in Mammals
.32
|
3 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
Activation of PKA through GPCR
.71
PKA Signaling
.56
|
4 | CREB Pathway |
CREB Pathway
.68
IP3 Pathway
.68
|
Activation of PKC through GPCR
.63
Intracellular Calcium Signaling
.50
|
5 | GPCR Pathway |
GPCR Pathway
.62
Breast Cancer Regulation by Stathmin1
.58
|
NFAT in Immune Response
.58
Estrogen Pathway
.55
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001508 | action potential | IBA | 21873635 |
GO:0007165 | signal transduction | TAS | 10191087 |
GO:0007186 | G protein-coupled receptor signaling pathway | TAS | -- |
GO:0007188 | adenylate cyclase-modulating G protein-coupled receptor signaling pathway | IBA | 21873635 |
GO:0030168 | platelet activation | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
[D-Trp7,9,10]-Substance P |
|
89430-38-6 |
|
|
||
G-Protein antagonist peptide |
|
143675-79-0 |
|
|
||
Gue 1654 |
|
397290-30-1 |
|
|
||
mastoparan |
|
72093-21-1 |
|
|
||
SCH 202676 hydrobromide |
|
265980-25-4 |
|
|
Compound | Action | Cas Number |
---|---|---|
[D-Trp7,9,10]-Substance P | Inhibits M1 ACh receptor activation of Gq/11 | 89430-38-6 |
G-Protein antagonist peptide | Inhibits G protein activation by GPCRs | 143675-79-0 |
Gue 1654 | Selective inhibitor of OXE-R Gbetagamma signaling | 397290-30-1 |
Mastoparan | Activates Gi and Go | 72093-21-1 |
SCH 202676 hydrobromide | Inhibitor of ligand binding to G-protein-coupled receptors | 265980-25-4 |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GNA14 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GNA14 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GNA14 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GNA14 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GNA14 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gna14 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gna14 30 |
|
||
Chicken (Gallus gallus) |
Aves | GNA14 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GNA14 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gna14 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Gna14 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gna11a 31 |
|
ManyToMany | |
gna14a 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Galpha49B 31 32 |
|
ManyToMany | |
CG30054 31 |
|
ManyToMany | |||
CG17760 31 32 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | egl-30 31 |
|
OneToMany | |
gpa-1 32 |
|
|
|||
gpa-6 32 |
|
|
|||
gpa-15 32 |
|
|
|||
gpa-8 32 |
|
|
|||
gpa-10 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GPA2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.11283 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
718482 | Benign: not provided | 77,647,697(-) | G/A | MISSENSE_VARIANT | |
775090 | Benign: not provided | 77,431,365(-) | G/A | SYNONYMOUS_VARIANT | |
778433 | Benign: not provided | 77,529,183(-) | G/A | SYNONYMOUS_VARIANT | |
rs1554685903 | Likely Pathogenic: Lobular capillary hemangioma; Kaposiform hemangioendothelioma; Congenital tufted angioma | 77,429,016(-) | T/A | MISSENSE_VARIANT | |
rs746420384 | Uncertain Significance: Severe Myopia | 77,428,951(-) | CA/C | FRAMESHIFT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv12771n54 | CNV | loss | 21841781 |
esv21709 | CNV | loss | 19812545 |
esv2463816 | CNV | insertion | 19546169 |
esv2562696 | CNV | insertion | 19546169 |
esv26092 | CNV | loss | 19812545 |
esv2669994 | CNV | deletion | 23128226 |
esv2671344 | CNV | deletion | 23128226 |
esv2738610 | CNV | deletion | 23290073 |
esv3306887 | CNV | mobile element insertion | 20981092 |
esv3430887 | CNV | insertion | 20981092 |
esv3544962 | CNV | deletion | 23714750 |
esv3573274 | CNV | loss | 25503493 |
esv3573276 | CNV | loss | 25503493 |
esv3576677 | CNV | gain | 25503493 |
esv3620775 | CNV | loss | 21293372 |
esv3620776 | CNV | loss | 21293372 |
esv3620777 | CNV | loss | 21293372 |
esv7342 | OTHER | inversion | 19470904 |
nsv1036470 | CNV | loss | 25217958 |
nsv1041647 | CNV | gain | 25217958 |
nsv1051079 | CNV | gain | 25217958 |
nsv1054297 | CNV | gain | 25217958 |
nsv1115202 | CNV | deletion | 24896259 |
nsv614730 | CNV | loss | 21841781 |
nsv831629 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
kaposiform hemangioendothelioma |
|
|
angioma, tufted |
|
|
capillary hemangioma |
|
|
pertussis |
|
|
hyperinsulinemic hypoglycemia, familial, 5 |
|
|