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GeneBe

SCTR

secretin receptor, the group of Glucagon receptor family

Basic information

Region (hg38): 2:119439842-119525301

Links

ENSG00000080293NCBI:6344OMIM:182098HGNC:10608Uniprot:P47872AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

  • Inborn genetic diseases (20 variants)
  • not provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SCTR gene is commonly pathogenic or not.

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.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
3
clinvar
3
missense
18
clinvar
3
clinvar
1
clinvar
22
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
1
non coding
1
clinvar
1
Total 0 0 18 3 5

Variants in SCTR

This is a list of pathogenic ClinVar variants found in the SCTR region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
2-119440195-G-A Benign (Aug 11, 2017)785976
2-119440214-C-T Inborn genetic diseases Uncertain significance (Oct 12, 2021)2255165
2-119446866-G-C Inborn genetic diseases Uncertain significance (Sep 06, 2022)2303931
2-119452035-C-T Inborn genetic diseases Uncertain significance (Nov 30, 2022)2256706
2-119452050-A-C Inborn genetic diseases Uncertain significance (Oct 14, 2021)2255460
2-119452057-C-T Likely benign (Jun 25, 2018)710544
2-119453277-G-A Benign (Aug 15, 2017)780356
2-119461867-C-T Inborn genetic diseases Uncertain significance (Nov 09, 2021)2259631
2-119461901-T-C Inborn genetic diseases Uncertain significance (Sep 07, 2022)2321228
2-119461945-G-C Inborn genetic diseases Uncertain significance (Feb 14, 2023)2469942
2-119461998-C-T Benign (Aug 11, 2017)717175
2-119464128-G-A Inborn genetic diseases Uncertain significance (Oct 29, 2021)2258708
2-119464135-G-A Benign (Jun 25, 2018)710545
2-119464137-A-G Inborn genetic diseases Uncertain significance (May 17, 2023)2548280
2-119464154-G-A Inborn genetic diseases Uncertain significance (May 31, 2023)2517346
2-119464191-G-A Benign (Jun 25, 2018)775755
2-119464247-T-A Inborn genetic diseases Uncertain significance (May 04, 2023)2555972
2-119473454-C-T Inborn genetic diseases Uncertain significance (Mar 01, 2023)2492176
2-119473469-G-A Inborn genetic diseases Uncertain significance (Mar 01, 2023)2464859
2-119473530-C-T Benign (Dec 04, 2017)708526
2-119478864-C-T Inborn genetic diseases Likely benign (Apr 13, 2023)2536989
2-119478865-G-A Inborn genetic diseases Uncertain significance (Dec 01, 2022)2347566
2-119478870-G-A Inborn genetic diseases Likely benign (Sep 16, 2021)2405131
2-119478899-G-T Inborn genetic diseases Uncertain significance (Nov 17, 2022)2326980
2-119494451-A-G Inborn genetic diseases Uncertain significance (Aug 19, 2023)2595670

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SCTRprotein_codingprotein_codingENST00000019103 1384652
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.43e-120.24112561321331257480.000537
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.02432492481.000.00001392852
Missense in Polyphen8390.1520.920661105
Synonymous0.232971000.9700.00000584855
Loss of Function0.9812126.40.7940.00000130280

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001130.00113
Ashkenazi Jewish0.000.00
East Asian0.0007520.000707
Finnish0.000.00
European (Non-Finnish)0.0006370.000624
Middle Eastern0.0007520.000707
South Asian0.0004910.000457
Other0.0008180.000815

dbNSFP

Source: dbNSFP

Function
FUNCTION: This is a receptor for secretin. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase.;
Pathway
Bile secretion - Homo sapiens (human);Pancreatic secretion - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Class B Secretin-like;Signaling by GPCR;Signal Transduction;G alpha (s) signalling events;Glucagon-type ligand receptors;Class B/2 (Secretin family receptors);GPCR ligand binding;GPCR downstream signalling (Consensus)

Recessive Scores

pRec
0.177

Intolerance Scores

loftool
0.864
rvis_EVS
0.55
rvis_percentile_EVS
81.6

Haploinsufficiency Scores

pHI
0.0729
hipred
N
hipred_score
0.296
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.659

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Sctr
Phenotype
immune system phenotype; homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); renal/urinary system phenotype;

Gene ontology

Biological process
cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;brain development
Cellular component
cytoplasmic microtubule;plasma membrane;integral component of membrane
Molecular function
G protein-coupled peptide receptor activity;secretin receptor activity;peptide hormone binding