AutismKB 2.0

Evidence Details for SLC9A3R2


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Basic Information Top
Gene Symbol:SLC9A3R2 ( E3KARP,MGC104639,NHE3RF2,NHERF-2,NHERF2,OCTS2,SIP-1,SIP1,TKA-1 )
Gene Full Name: solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2
Band: 16p13.3
Quick LinksEntrez ID:9351; OMIM: 606553; Uniprot ID:NHRF2_HUMAN; ENSEMBL ID: ENSG00000065054; HGNC ID: 11076
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC9A3R2|9351|nucleotide
ATGGCCGCGCCGGAGCCGCTGCGGCCGCGCCTGTGCCGCTTGGTGCGCGGAGAGCAGGGCTACGGCTTCCACCTGCACGGCGAGAAGGGCCGCCGCGGGCAGTTC
ATCCGGCGCGTGGAACCCGGTTCCCCCGCCGAGGCCGCCGCGCTGCGCGCTGGGGACCGCCTGGTCGAGGTCAACGGCGTCAACGTGGAGGGCGAGACGCACCAC
CAGGTGGTGCAAAGGATCAAGGCTGTGGAGGGGCAGACTCGGCTGCTGGTGGTGGACCAGGAGACAGATGAGGAGCTCCGCCGGCGGCAGCTGACCTGTACCGAG
GAGATGGCCCAGCGAGGGCTCCCACCCGCCCACGACCCCTGGGAGCCGAAGCCAGACTGGGCACACACCGGCAGCCACAGCTCCGAAGCTGGCAAGAAGGATGTC
AGTGGGCCCCTGAGGGAGCTGCGCCCTCGGCTCTGCCACCTGCGAAAGGGACCTCAGGGCTATGGGTTCAACCTGCATAGTGACAAGTCCCGGCCCGGCCAGTAC
ATCCGCTCTGTGGACCCGGGCTCACCTGCCGCCCGCTCTGGCCTCCGCGCCCAGGACCGGCTCATTGAGGTGAACGGGCAGAATGTGGAGGGACTGCGCCATGCT
GAGGTGGTGGCCAGCATCAAGGCACGGGAGGACGAGGCCCGGCTGCTGGTCGTGGACCCCGAGACAGATGAACACTTCAAGCGGCTTCGGGTCACACCCACCGAG
GAGCACGTGGAAGGTCCTCTGCCGTCACCCGTCACCAATGGAACCAGCCCTGCCCAGCTCAATGGTGGCTCTGCGTGCTCGTCCCGAAGTGACCTGCCTGGTTCC
GACAAGGACACTGAGGATGGCAGTGCCTGGAAGCAAGATCCCTTCCAGGAGAGCGGCCTCCACCTGAGCCCCACGGCGGCCGAGGCCAAGGAGAAGGCTCGAGCC
ATGCGAGTCAACAAGCGCGCGCCACAGATGGACTGGAACAGGAAGCGTGAAATCTTCAGCAACTTCTGA

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>SLC9A3R2|9351|protein
MAAPEPLRPRLCRLVRGEQGYGFHLHGEKGRRGQFIRRVEPGSPAEAAALRAGDRLVEVNGVNVEGETHHQVVQRIKAVEGQTRLLVVDQETDEELRRRQLTCTE
EMAQRGLPPAHDPWEPKPDWAHTGSHSSEAGKKDVSGPLRELRPRLCHLRKGPQGYGFNLHSDKSRPGQYIRSVDPGSPAARSGLRAQDRLIEVNGQNVEGLRHA
EVVASIKAREDEARLLVVDPETDEHFKRLRVTPTEEHVEGPLPSPVTNGTSPAQLNGGSACSSRSDLPGSDKDTEDGSAWKQDPFQESGLHLSPTAAEAKEKARA
MRVNKRAPQMDWNRKREIFSNF

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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) 1 (1) 1 (2) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 14 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Gazzellone MJ, 2014 China -- - - - - 104 2108 2212
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Krumm N, 2015 2377 1373 77 Excess of rare, inherited truncating mutations in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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