AutismKB 2.0

Evidence Details for SSTR2


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Basic Information Top
Gene Symbol:SSTR2 ( - )
Gene Full Name: somatostatin receptor 2
Band: 17q25.1
Quick LinksEntrez ID:6752; OMIM: 182452; Uniprot ID:SSR2_HUMAN; ENSEMBL ID: ENSG00000180616; HGNC ID: 11331
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SSTR2|6752|nucleotide
ATGGACATGGCGGATGAGCCACTCAATGGAAGCCACACATGGCTATCCATTCCATTTGACCTCAATGGCTCTGTGGTGTCAACCAACACCTCAAACCAGACAGAG
CCGTACTATGACCTGACAAGCAATGCAGTCCTCACATTCATCTATTTTGTGGTCTGCATCATTGGGTTGTGTGGCAACACACTTGTCATTTATGTCATCCTCCGC
TATGCCAAGATGAAGACCATCACCAACATTTACATCCTCAACCTGGCCATCGCAGATGAGCTCTTCATGCTGGGTCTGCCTTTCTTGGCTATGCAGGTGGCTCTG
GTCCACTGGCCCTTTGGCAAGGCCATTTGCCGGGTGGTCATGACTGTGGATGGCATCAATCAGTTCACCAGCATCTTCTGCCTGACAGTCATGAGCATCGACCGA
TACCTGGCTGTGGTCCACCCCATCAAGTCGGCCAAGTGGAGGAGACCCCGGACGGCCAAGATGATCACCATGGCTGTGTGGGGAGTCTCTCTGCTGGTCATCTTG
CCCATCATGATATATGCTGGGCTCCGGAGCAACCAGTGGGGGAGAAGCAGCTGCACCATCAACTGGCCAGGTGAATCTGGGGCTTGGTACACAGGGTTCATCATC
TACACTTTCATTCTGGGGTTCCTGGTACCCCTCACCATCATCTGTCTTTGCTACCTGTTCATTATCATCAAGGTGAAGTCCTCTGGAATCCGAGTGGGCTCCTCT
AAGAGGAAGAAGTCTGAGAAGAAGGTCACCCGAATGGTGTCCATCGTGGTGGCTGTCTTCATCTTCTGCTGGCTTCCCTTCTACATATTCAACGTTTCTTCCGTC
TCCATGGCCATCAGCCCCACCCCAGCCCTTAAAGGCATGTTTGACTTTGTGGTGGTCCTCACCTATGCTAACAGCTGTGCCAACCCTATCCTATATGCCTTCTTG
TCTGACAACTTCAAGAAGAGCTTCCAGAATGTCCTCTGCTTGGTCAAGGTGAGCGGCACAGATGATGGGGAGCGGAGTGACAGTAAGCAGGACAAATCCCGGCTG
AATGAGACCACGGAGACCCAGAGGACCCTCCTCAATGGAGACCTCCAAACCAGTATCTGA
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>SSTR2|6752|protein
MDMADEPLNGSHTWLSIPFDLNGSVVSTNTSNQTEPYYDLTSNAVLTFIYFVVCIIGLCGNTLVIYVILRYAKMKTITNIYILNLAIADELFMLGLPFLAMQVAL
VHWPFGKAICRVVMTVDGINQFTSIFCLTVMSIDRYLAVVHPIKSAKWRRPRTAKMITMAVWGVSLLVILPIMIYAGLRSNQWGRSSCTINWPGESGAWYTGFII
YTFILGFLVPLTIICLCYLFIIIKVKSSGIRVGSSKRKKSEKKVTRMVSIVVAVFIFCWLPFYIFNVSSVSMAISPTPALKGMFDFVVVLTYANSCANPILYAFL
SDNFKKSFQNVLCLVKVSGTDDGERSDSKQDKSRLNETTETQRTLLNGDLQTSI

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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Purcell, 2001_1 America cerebellum 4
(-)
-autism 4
(-)
-1.62 Down -
  • Platform: Atlas Human Neurobiology array (Clontech Laboratories, Palo Alto, CA)
  • ProbeSet: -
  • RefSeq_ID/ EST: M81830
  • GEO_ID: -
  • Statistic Method: ratio of autism/control
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018