AutismKB 2.0

Annotation Detail for ACCN2


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Basic Information Top
Gene Symbol:ACCN2 ( ASIC,ASIC1,ASIC1A,BNaC2,hBNaC2 )
Gene Full Name: amiloride-sensitive cation channel 2, neuronal
Band: 12q12
Quick LinksEntrez ID:41; OMIM: 602866; Uniprot ID:ACCN2_HUMAN; ENSEMBL ID: ENSG00000110881; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
368N-linked (GlcNAc...) (Potential).
395N-linked (GlcNAc...) (Potential).
479Phosphoserine; by PKA.
Location(AA) Modifications Resource
368N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
395N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
479Phosphoserine (by PKA).Swiss-Prot 53.0
479Phosphoserine (PKA
Location(AA) Modification Resource
83Phosphoserine(PKG)HMM predict
83Phosphoserine(ATM)HMM predict
101Phosphoserine(ATM)HMM predict
209Phosphothreonine(PKC)HMM predict
251Phosphoserine(ATM)HMM predict
294Phosphothreonine(PKA)HMM predict
306Phosphoserine(IKK)HMM predict
360Phosphotyrosine(Jak)HMM predict
368N-linkedHMM predict
395N-linkedHMM predict
400Phosphotyrosine(INSR)HMM predict
417Phosphotyrosine(INSR)HMM predict
518ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001095
  • Location:chr12 48737753-48763659
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 48736128 48736515 387 1432
CTCF CD4SISSRdata 48736128 48736515 387 1432
CTCF JurkatGSE12889 48736161 48736376 215 1485
CTCF G2GSE9613 48724259 48724501 242 13374
CTCF G2GSE9613 48730159 48731072 913 7138
CTCF G2GSE9613 48732249 48732650 401 5304
CTCF G2GSE9613 48733634 48734044 410 3915
CTCF G2GSE9613 48735889 48738296 2407 661
FOXA1 MCF7GSE15244 48736273 48737183 910 1026
Gata1 K562GSE18868 48730253 48731142 889 7056
Gata2 K562GSE18868 48730366 48731494 1128 6824
H3K27me3 colorectalcancer 48732249 48733599 1350 4830
H3K27me3 colorectalcancer 48736332 48736851 519 1162
RARG MCF7GSE15244 48736273 48737146 873 1044
hScc1 BcellGSE12603 48732249 48732524 275 5367
hScc1 BcellGSE12603 48735889 48736851 962 1384
hScc1 BcellGSE12603 48737451 48738031 580 13
hScc1 CdLSGSE12603 48735889 48736620 731 1499
hScc1 CdLSGSE12603 48737247 48737986 739 137
hScc1 G2GSE9613 48735889 48736700 811 1459
p130 QuiescentGSE19898 48727156 48727300 144 10526
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 48750474 48750957 483 0
CTCF CD4GSE12889 48755279 48755524 245 0
CTCF CD4SISSRdata 48750474 48750957 483 0
CTCF CD4SISSRdata 48755279 48755524 245 0
CTCF HelaGSE12889 48750546 48750990 444 0
CTCF JurkatGSE12889 48755310 48755637 327 0
CTCF G2GSE9613 48738835 48739156 321 0
CTCF G2GSE9613 48739662 48740244 582 0
CTCF G2GSE9613 48743033 48743334 301 0
CTCF G2GSE9613 48745926 48746482 556 0
CTCF G2GSE9613 48748903 48749161 258 0
CTCF G2GSE9613 48750234 48751089 855 0
CTCF G2GSE9613 48753280 48753695 415 0
CTCF G2GSE9613 48754188 48756198 2010 0
CTCF G2GSE9613 48757474 48757820 346 0
CTCF G2GSE9613 48759901 48760083 182 0
CTCF G2GSE9613 48761164 48761584 420 0
KLF4 hESGSE17917 48752235 48752523 288 0
NRSF pAbJurkat 48750813 48751089 276 0
NRSF pAbJurkat 48753024 48754035 1011 0
NRSF pAbJurkat 48761241 48761622 381 0
NRSF pAbJurkat 48762779 48763406 627 0
Oct1 H2O2-HelaGSE14283 48751042 48751070 28 0
hScc1 BcellGSE12603 48750338 48751021 683 0
hScc1 BcellGSE12603 48754870 48755618 748 0
hScc1 CdLSGSE12603 48755116 48755618 502 0
hScc1 G2GSE9613 48737515 48738099 584 0
hScc1 G2GSE9613 48750303 48750948 645 0
hScc1 G2GSE9613 48754961 48756198 1237 0
Validated miRNA targets Top
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


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