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Relevance to Autism

Genetic association has been found between the HTR3C gene and autism in a Finnish population cohort (Rehnstrm et al., 2009).

Molecular Function

Ligand-gated ion channel receptor

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Allelic variants in HTR3C show association with autism.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Epilepsy
Highly Cited
Cloning, physical mapping and expression analysis of the human 5-HT3 serotonin receptor-like genes HTR3C, HTR3D and HTR3E.
Recent Recommendation
The 5-HT3 receptor--the relationship between structure and function.
Recent Recommendation
Serotonin type 3 receptor genes: HTR3A, B, C, D, E.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN130R001 
 synonymous_variant 
 c.78C>T 
 p.Asp26%3D 
 Unknown 
  
 Unknown 
 GEN130R002 
 synonymous_variant 
 c.870C>T 
 p.Asn290%3D 
 Unknown 
  
 Unknown 
 GEN130R003 
 missense_variant 
 c.1279T>C 
 p.Phe427Leu 
 Unknown 
  
 Unknown 
 GEN130R004 
 missense_variant 
 c.1154C>T 
 p.Pro385Leu 
 Unknown 
  
 Unknown 
 GEN130R005 
 frameshift_variant 
 c.532_536del 
 p.Phe178LeufsTer56 
 Familial 
 Maternal 
 Multiplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN130C001 
 missense_variant 
 rs6766410 
 c.489C>A 
 p.Asn163Lys 
 Finnish 
 Discovery 
 GEN130C002 
 missense_variant 
 rs6807362 
 c.1214G>C 
 p.Gly405Ala 
 Finnish 
 Discovery 
 GEN130C003 
 downstream_gene_variant 
 rs9872968 
  
 N/A 
 Finnish 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Duplication
 1
 
3
Duplication
 2
 
3
Duplication
 1
 
3
Duplication
 2
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Deletion
 1
 
3
Deletion
 2
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ABHD16A abhydrolase domain containing 16A 7920 B3KNX9 IP; LC-MS/MS
Huttlin EL , et al. 2015
ALG9 ALG9, alpha-1,2-mannosyltransferase 79796 Q9H6U8 IP; LC-MS/MS
Huttlin EL , et al. 2015
ARHGAP8 Rho GTPase activating protein 8 23779 P85298 IP; LC-MS/MS
Huttlin EL , et al. 2015
C10ORF35 chromosome 10 open reading frame 35 219738 Q96D05 IP; LC-MS/MS
Huttlin EL , et al. 2015
C12ORF26 Methyltransferase-like protein 25 84190 Q8N6Q8 IP; LC-MS/MS
Huttlin EL , et al. 2015
CHST12 carbohydrate (chondroitin 4) sulfotransferase 12 55501 Q9NRB3 IP; LC-MS/MS
Huttlin EL , et al. 2015
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) 1605 Q14118 IP; LC-MS/MS
Huttlin EL , et al. 2015
EDA ectodysplasin A 1896 Q92838 IP; LC-MS/MS
Huttlin EL , et al. 2015
ERMP1 endoplasmic reticulum metallopeptidase 1 79956 B3KSB1 IP; LC-MS/MS
Huttlin EL , et al. 2015
FAM69A family with sequence similarity 69, member A 388650 Q5T7M9 IP; LC-MS/MS
Huttlin EL , et al. 2015
GJA1 gap junction protein, alpha 1, 43kDa NM_000165 P17302 IP; LC-MS/MS
Huttlin EL , et al. 2015
GLT8D1 glycosyltransferase 8 domain containing 1 55830 Q68CQ7 IP; LC-MS/MS
Huttlin EL , et al. 2015
GP1BB Platelet glycoprotein Ib beta chain 2812 P13224-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
GRAMD1A GRAM domain containing 1A 57655 Q96CP6 IP; LC-MS/MS
Huttlin EL , et al. 2015
HDAC4 histone deacetylase 4 9759 P56524 GST; In vivo acetylation assay; in vitro kinase assay; AMPK kinase assay; IP/WB
Lin YY , et al. 2012
IMPAD1 inositol monophosphatase domain containing 1 54928 Q9NX62 IP; LC-MS/MS
Huttlin EL , et al. 2015
ITPRIP inositol 1,4,5-trisphosphate receptor interacting protein 85450 Q8IWB1 IP; LC-MS/MS
Huttlin EL , et al. 2015
LEMD3 LEM domain containing 3 23592 Q9Y2U8 IP; LC-MS/MS
Huttlin EL , et al. 2015
LRFN3 leucine rich repeat and fibronectin type III domain containing 3 79414 Q9BTN0 IP; LC-MS/MS
Huttlin EL , et al. 2015
LRRC8A leucine rich repeat containing 8 family, member A 56262 A8K1C7 IP; LC-MS/MS
Huttlin EL , et al. 2015
NETO2 neuropilin (NRP) and tolloid (TLL)-like 2 81831 J3KNF1 IP; LC-MS/MS
Huttlin EL , et al. 2015
PIGM phosphatidylinositol glycan anchor biosynthesis, class M 93183 Q9H3S5 IP; LC-MS/MS
Huttlin EL , et al. 2015
PIGO phosphatidylinositol glycan anchor biosynthesis, class O 84720 Q8TEQ8 IP; LC-MS/MS
Huttlin EL , et al. 2015
POMT1 protein-O-mannosyltransferase 1 10585 Q9Y6A1 IP; LC-MS/MS
Huttlin EL , et al. 2015
SEC11C Signal peptidase complex catalytic subunit SEC11C 90701 Q9BY50 IP; LC-MS/MS
Huttlin EL , et al. 2015
SLC35B2 solute carrier family 35, member B2 347734 Q8TB61 IP; LC-MS/MS
Huttlin EL , et al. 2015
SLC38A10 solute carrier family 38, member 10 124565 Q9HBR0 IP; LC-MS/MS
Huttlin EL , et al. 2015
SLC38A9 Sodium-coupled neutral amino acid transporter 9 153129 Q8NBW4-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
SLC47A1 Multidrug and toxin extrusion protein 1 55244 Q96FL8-3 IP; LC-MS/MS
Huttlin EL , et al. 2015
SPPL2B signal peptide peptidase like 2B 56928 Q8TCT7 IP; LC-MS/MS
Huttlin EL , et al. 2015
TMED4 transmembrane emp24 protein transport domain containing 4 222068 Q7Z7H5 IP; LC-MS/MS
Huttlin EL , et al. 2015
TMEM104 transmembrane protein 104 54868 Q8NE00 IP; LC-MS/MS
Huttlin EL , et al. 2015
TMEM186 Transmembrane protein 186 25880 Q96B77 IP; LC-MS/MS
Huttlin EL , et al. 2015
TMEM223 transmembrane protein 223 79064 A0PJW6 IP; LC-MS/MS
Huttlin EL , et al. 2015
TMEM231 Transmembrane protein 231 79583 Q9H6L2 IP; LC-MS/MS
Huttlin EL , et al. 2015
TMEM39A transmembrane protein 39A NM_018266 Q9NV64 IP; LC-MS/MS
Huttlin EL , et al. 2015
TMPPE Transmembrane protein with metallophosphoesterase domain 643853 Q6ZT21-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
TMTC3 transmembrane and tetratricopeptide repeat containing 3 160418 A8K321 IP; LC-MS/MS
Huttlin EL , et al. 2015
TPST2 tyrosylprotein sulfotransferase 2 8459 O60704 IP; LC-MS/MS
Huttlin EL , et al. 2015
TUSC3 tumor suppressor candidate 3 7991 Q13454 IP; LC-MS/MS
Huttlin EL , et al. 2015
UGT3A2 UDP-glucuronosyltransferase 3A2 167127 Q3SY77 IP; LC-MS/MS
Huttlin EL , et al. 2015
WLS wntless homolog (Drosophila) 79971 Q5T9L3 IP; LC-MS/MS
Huttlin EL , et al. 2015

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