AutismKB 2.0

Annotation Detail for SLC9A3R2


View Evidences View Variants View Annotations
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
Post Translation Modification Top
Location(AA) Modification
183Phosphoserine.
254Phosphoserine.
272Phosphoserine (By similarity).
275Phosphoserine.
Location(AA) Modifications Resource
272Phosphoserine (By similarity).Swiss-Prot 53.0
275Phosphoserine.Swiss-Prot 53.0
275PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
29O-linkedHMM predict
43Phosphoserine(CDC2)HMM predict
92Phosphothreonine(CK2)HMM predict
242Phosphothreonine(MAPK)HMM predict
254Phosphoserine(CDC2)HMM predict
254O-linkedHMM predict
257O-linkedHMM predict
258N-linkedHMM predict
280Phosphoserine(CK2)HMM predict
284Phosphothreonine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004785
  • Location:chr16 2016929-2028483
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 2013178 2013388 210 3647
CTCF CD4SISSRdata 2013178 2013388 210 3647
CTCF HelaGSE12889 2013173 2013342 169 3672
CTCF JurkatGSE12889 2013137 2013377 240 3673
CTCF G2GSE9613 2009704 2010275 571 6940
CTCF G2GSE9613 2012586 2013732 1146 3771
CTCF G2GSE9613 2016584 2016748 164 264
ER MCF7GSE19013 2012524 2013064 540 4136
Rb GrowingGSE19898 2013184 2013466 282 3605
Rb SenescentGSE19898 2012964 2013379 415 3758
Rb shRbSenescenceGSE19898 2013215 2013415 200 3615
TFAP2C MCF7GSE21234 2012577 2013855 1278 3714
hScc1 BcellGSE12603 2012725 2013685 960 3725
hScc1 CdLSGSE12603 2013006 2013771 765 3541
p130 SenescentGSE19898 2012672 2013309 637 3939
p130 shRbSenescentGSE19898 2013104 2013420 316 3668
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 2017055 2017750 695 0
CTCF G2GSE9613 2019440 2020332 892 0
CTCF G2GSE9613 2023910 2024527 617 0
CTCF G2GSE9613 2025072 2026431 1359 0
CTCF G2GSE9613 2026831 2027991 1160 0
NRSF pAbJurkat 2020332 2020600 268 0
Rb shRbSenescenceGSE19898 2023624 2023897 273 0
Rb shRbSenescenceGSE19898 2027161 2027365 204 0
TFAP2C MCF7GSE21234 2025638 2026301 663 0
hScc1 BcellGSE12603 2025362 2025741 379 0
p130 QuiescentGSE19898 2023597 2023806 209 0
p130 SenescentGSE19898 2025652 2026220 568 0
p130 shRbQuiescentGSE19898 2025831 2026391 560 0
p130 shRbSenescentGSE19898 2025719 2026063 344 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-141 hsa-mir-141 12 19830559
hsa-miR-141 hsa-mir-141 12 18376396
hsa-miR-141 hsa-mir-141 12 18411277
hsa-miR-141 hsa-mir-141 12 19830559
hsa-miR-141 hsa-mir-141 12 18376396
hsa-miR-141 hsa-mir-141 12 18411277
hsa-miR-141* hsa-mir-141 12 19830559
hsa-miR-141* hsa-mir-141 12 18376396
hsa-miR-141* hsa-mir-141 12 18411277
hsa-miR-141* hsa-mir-141 12 19830559
hsa-miR-141* hsa-mir-141 12 18376396
hsa-miR-141* hsa-mir-141 12 18411277
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-192 hsa-mir-192 11 17360662
hsa-miR-192 hsa-mir-192 11 17360662
hsa-miR-192* hsa-mir-192 11 17360662
hsa-miR-192* hsa-mir-192 11 17360662
hsa-miR-200a hsa-mir-200a 1 18376396
hsa-miR-200a hsa-mir-200a 1 18411277
hsa-miR-200a hsa-mir-200a 1 18376396
hsa-miR-200a hsa-mir-200a 1 18411277
hsa-miR-200a* hsa-mir-200a 1 18376396
hsa-miR-200a* hsa-mir-200a 1 18411277
hsa-miR-200a* hsa-mir-200a 1 18376396
hsa-miR-200a* hsa-mir-200a 1 18411277
hsa-miR-200b hsa-mir-200b 1 18376396
hsa-miR-200b hsa-mir-200b 1 18411277
hsa-miR-200b hsa-mir-200b 1 18376396
hsa-miR-200b hsa-mir-200b 1 18411277
hsa-miR-200b* hsa-mir-200b 1 18376396
hsa-miR-200b* hsa-mir-200b 1 18411277
hsa-miR-200b* hsa-mir-200b 1 18376396
hsa-miR-200b* hsa-mir-200b 1 18411277
hsa-miR-200c hsa-mir-200c 12 18376396
hsa-miR-200c hsa-mir-200c 12 18411277
hsa-miR-200c hsa-mir-200c 12 18376396
hsa-miR-200c hsa-mir-200c 12 18411277
hsa-miR-200c* hsa-mir-200c 12 18376396
hsa-miR-200c* hsa-mir-200c 12 18411277
hsa-miR-200c* hsa-mir-200c 12 18376396
hsa-miR-200c* hsa-mir-200c 12 18411277
hsa-miR-205 hsa-mir-205 1 18376396
hsa-miR-205 hsa-mir-205 1 18376396
hsa-miR-215 hsa-mir-215 1 17360662
hsa-miR-215 hsa-mir-215 1 17360662
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
hsa-miR-429 hsa-mir-429 1 18376396
hsa-miR-429 hsa-mir-429 1 18411277
hsa-miR-429 hsa-mir-429 1 18376396
hsa-miR-429 hsa-mir-429 1 18411277
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
1282 Unknown pSILAC miR-30 SLC9A3R2 down 50-25% 18668040
1283 Unknown pSILAC miR-30 SLC9A3R2 down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000065054 n_a n_a n_a "lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, sarcoma"
ENSG00000065054 n_a n_a n_a "lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, sarcoma"
Cis-Nats regulation Top

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