GeneBe

SGK3

serum/glucocorticoid regulated kinase family member 3

Basic information

Region (hg38): 8:66712734-66862022

Previous symbols: [ "SGK2", "SGKL" ]

Links

ENSG00000104205 ∙ NCBI:23678 ∙ OMIM:607591 ∙ HGNC:10812 ∙ Uniprot:Q96BR1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • hypophosphatemic rickets (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SGK3 gene.

  • not_specified (42 variants)
  • not_provided (1 variants)
  • Prostate_cancer (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SGK3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001033578.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
43
clinvar
 43
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 43 0 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SGK3protein_codingprotein_codingENST00000396596 16149605
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
8.56e-70.9961257030401257430.000159
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.651802540.7090.00001203276
Missense in Polyphen6095.7650.626531236
Synonymous1.147285.40.8430.00000412882
Loss of Function2.581530.30.4940.00000152379

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001210.000120
Ashkenazi Jewish0.0001990.000198
East Asian0.00005440.0000544
Finnish0.000.00
European (Non-Finnish)0.0002580.000255
Middle Eastern0.00005440.0000544
South Asian0.0001450.000131
Other0.0001650.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cell growth, proliferation, survival and migration. Up-regulates Na(+) channels: SCNN1A/ENAC and SCN5A, K(+) channels: KCNA3/KV1.3, KCNE1, KCNQ1 and KCNH2/HERG, epithelial Ca(2+) channels: TRPV5 and TRPV6, chloride channel: BSND, creatine transporter: SLC6A8, Na(+)/dicarboxylate cotransporter: SLC13A2/NADC1, Na(+)-dependent phosphate cotransporter: SLC34A2/NAPI-2B, amino acid transporters: SLC1A5/ASCT2 and SLC6A19, glutamate transporters: SLC1A3/EAAT1, SLC1A6/EAAT4 and SLC1A7/EAAT5, glutamate receptors: GRIA1/GLUR1 and GRIK2/GLUR6, Na(+)/H(+) exchanger: SLC9A3/NHE3, and the Na(+)/K(+) ATPase. Plays a role in the regulation of renal tubular phosphate transport and bone density. Phosphorylates NEDD4L and GSK3B. Positively regulates ER transcription activity through phosphorylation of FLII. Negatively regulates the function of ITCH/AIP4 via its phosphorylation and thereby prevents CXCR4 from being efficiently sorted to lysosomes. {ECO:0000269|PubMed:12054501, ECO:0000269|PubMed:12397388, ECO:0000269|PubMed:12590200, ECO:0000269|PubMed:12632189, ECO:0000269|PubMed:12634932, ECO:0000269|PubMed:12650886, ECO:0000269|PubMed:12911626, ECO:0000269|PubMed:14706641, ECO:0000269|PubMed:15040001, ECO:0000269|PubMed:15044175, ECO:0000269|PubMed:15319523, ECO:0000269|PubMed:15496163, ECO:0000269|PubMed:15737648, ECO:0000269|PubMed:15845389, ECO:0000269|PubMed:16036218, ECO:0000269|PubMed:16888620, ECO:0000269|PubMed:17167223, ECO:0000269|PubMed:18005662, ECO:0000269|PubMed:19293151, ECO:0000269|PubMed:20511718, ECO:0000269|PubMed:21865597}.;
Pathway
PI3K-Akt signaling pathway - Homo sapiens (human);FoxO signaling pathway - Homo sapiens (human);PI3K-Akt Signaling Pathway;Insulin Signaling;Stimuli-sensing channels;Ion channel transport;Transport of small molecules (Consensus)

Recessive Scores

pRec
0.129

Intolerance Scores

loftool
rvis_EVS
-0.32
rvis_percentile_EVS
31.46

Haploinsufficiency Scores

pHI
0.254
hipred
N
hipred_score
0.322
ghis
0.486

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.990

Mouse Genome Informatics

Gene name
Sgk3
Phenotype
immune system phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
regulation of cell growth;protein phosphorylation;peptidyl-serine phosphorylation;regulation of cell migration;ion transmembrane transport;intracellular signal transduction;regulation of cell population proliferation;regulation of DNA-binding transcription factor activity;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
Cellular component
early endosome;cytosol;recycling endosome
Molecular function
protein kinase activity;protein serine/threonine kinase activity;calcium channel regulator activity;protein binding;ATP binding;potassium channel regulator activity;sodium channel regulator activity;chloride channel regulator activity;phosphatidylinositol binding