GNAZ (G protein subunit alpha z)

Gene

• Entrez ID: 2781
• Gene name: G protein subunit alpha z
• Gene symbol: GNAZ
• Synonyms (NCBI Gene): HG1H, gz-alpha
• Chromosome: 22
• Chromosome location: 22q11.22-q11.23
• Summary: The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlea

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT046159	hsa-miR-30b-5p	CLASH	23622248
MIRT641644	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT641643	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT641641	hsa-miR-4469	HITS-CLIP	23824327
MIRT641642	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT641640	hsa-miR-7152-3p	HITS-CLIP	23824327
MIRT641639	hsa-miR-6801-5p	HITS-CLIP	23824327
MIRT641638	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT641637	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT641636	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT641644	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT641643	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT641641	hsa-miR-4469	HITS-CLIP	23824327
MIRT641642	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT641640	hsa-miR-7152-3p	HITS-CLIP	23824327
MIRT641639	hsa-miR-6801-5p	HITS-CLIP	23824327
MIRT641638	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT641637	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT641636	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT1023753	hsa-miR-1290	CLIP-seq
MIRT1023754	hsa-miR-1303	CLIP-seq
MIRT1023755	hsa-miR-205	CLIP-seq
MIRT1023756	hsa-miR-217	CLIP-seq
MIRT1023757	hsa-miR-3125	CLIP-seq
MIRT1023758	hsa-miR-3127-3p	CLIP-seq
MIRT1023759	hsa-miR-3177-3p	CLIP-seq
MIRT1023760	hsa-miR-3667-3p	CLIP-seq
MIRT1023761	hsa-miR-3916	CLIP-seq
MIRT1023762	hsa-miR-3917	CLIP-seq
MIRT1023763	hsa-miR-4418	CLIP-seq
MIRT1023764	hsa-miR-4659a-5p	CLIP-seq
MIRT1023765	hsa-miR-4659b-5p	CLIP-seq
MIRT1023766	hsa-miR-4776-3p	CLIP-seq
MIRT1023767	hsa-miR-509-3-5p	CLIP-seq
MIRT1023768	hsa-miR-509-5p	CLIP-seq
MIRT1023769	hsa-miR-512-5p	CLIP-seq
MIRT1023770	hsa-miR-545	CLIP-seq
MIRT1023771	hsa-miR-877	CLIP-seq
MIRT2003556	hsa-miR-3937	CLIP-seq
MIRT2236387	hsa-miR-197	CLIP-seq
MIRT2236388	hsa-miR-2682	CLIP-seq
MIRT2003556	hsa-miR-3937	CLIP-seq
MIRT2236389	hsa-miR-449c	CLIP-seq
MIRT2236390	hsa-miR-5096	CLIP-seq
MIRT2236391	hsa-miR-629	CLIP-seq
MIRT2236392	hsa-miR-940	CLIP-seq
MIRT2540091	hsa-miR-4282	CLIP-seq
MIRT2540092	hsa-miR-4468	CLIP-seq
MIRT2540093	hsa-miR-513a-3p	CLIP-seq
MIRT2540094	hsa-miR-9	CLIP-seq
MIRT2681707	hsa-miR-136	CLIP-seq
MIRT2681708	hsa-miR-3183	CLIP-seq
MIRT2681709	hsa-miR-4279	CLIP-seq
MIRT2681710	hsa-miR-4723-3p	CLIP-seq
MIRT2681711	hsa-miR-652	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001664	Function	G protein-coupled receptor binding	IBA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	TAS	2117645
GO:0005515	Function	Protein binding	IPI	28891236
GO:0005525	Function	GTP binding	IEA
GO:0005635	Component	Nuclear envelope	TAS	2117645
GO:0005737	Component	Cytoplasm	IBA
GO:0005783	Component	Endoplasmic reticulum	TAS	2117645
GO:0005834	Component	Heterotrimeric G-protein complex	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	3129724
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	3129724
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IEA
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IEA
GO:0010855	Function	Adenylate cyclase inhibitor activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0019001	Function	Guanyl nucleotide binding	IEA
GO:0030425	Component	Dendrite	IEA
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IBA
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IEA
GO:0031821	Function	G protein-coupled serotonin receptor binding	IEA
GO:0044297	Component	Cell body	IEA
GO:0045202	Component	Synapse	IEA
GO:0046676	Process	Negative regulation of insulin secretion	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0098664	Process	G protein-coupled serotonin receptor signaling pathway	IEA

Other IDs

• MIM: 139160
• HGNC: 4395
• e!Ensembl: ENSG00000128266

Protein

• UniProt ID: P19086
• Protein name: Guanine nucleotide-binding protein G(z) subunit alpha (G(x) alpha chain) (Gz-alpha)
• Protein function: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems.
• PDB: 8DZS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00503	G-alpha	13 → 344	G-protein alpha subunit	Domain

• Sequence:

  MGCRQSSEEKEAARRSRRIDRHLRSESQRQRREIKLLLLGTSNSGKSTIVKQMKIIHSGG
  FNLEACKEYKPLIIYNAIDSLTRIIRALAALRIDFHNPDRAYDAVQLFALTGPAESKGEI
  TPELLGVMRRLWADPGAQACFSRSSEYHLEDNAAYYLNDLERIAAADYIPTVEDILRSRD
  MTTGIVENKFTFKELTFKMVDVGGQRSERKKWIHCFEGVTAIIFCVELSGYDLKLYEDNQ
  TSRMAESLRLFDSICNNNWFINTSLILFLNKKDLLAEKIRRIPLTICFPEYKGQNTYEEA
  AVYIQRQFEDLNRNKETKEIYSHFTCATDTSNIQFVFDAVTDVIIQNNLKYIGLC

• Sequence length: 355

Pathways

KEGG:

Long-term depression

Reactome:

PLC beta mediated events
G-protein activation
G alpha (z) signalling events
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bipolar Disorder	Bipolar Disorder	BEFREE	10402497		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22997493	Associate	★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	16440290		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16264227		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Lymphocytosis	Lymphocytosis	BEFREE	30788840		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	10402497		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	10402497		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	10402497		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	10402497		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	10402497		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	10402497		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	10402497		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	30788840		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	30788840		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	8216227	Associate	★☆☆☆☆ Found in Text Mining only
Night Blindness Congenital Stationary Autosomal Dominant 3	Night blindness, congenital stationary	Pubtator	10702259	Associate	★☆☆☆☆ Found in Text Mining only
Night blindness, congenital stationary	Night blindness	BEFREE	17584859		★☆☆☆☆ Found in Text Mining only
Nodular fasciitis	Nodular Fasciitis	BEFREE	16440290		★☆☆☆☆ Found in Text Mining only