AutismKB 2.0

Annotation Detail for HCN2


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Basic Information Top
Gene Symbol:HCN2 ( BCNG-2,BCNG2,HAC-1 )
Gene Full Name: hyperpolarization activated cyclic nucleotide-gated potassium channel 2
Band: 19p13.3
Quick LinksEntrez ID:610; OMIM: 602781; Uniprot ID:HCN2_HUMAN; ENSEMBL ID: ENSG00000099822; HGNC ID: 4846
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
146Phosphoserine (By similarity).
407N-linked (GlcNAc...) (Potential).
779Phosphoserine (By similarity).
Location(AA) Modifications Resource
146Phosphoserine (By similarity).Swiss-Prot 53.0
407N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
779Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
13O-linkedHMM predict
17O-linkedHMM predict
17O-linkedHMM predict
72MethylarginineHMM predict
81Phosphoserine(IKK)HMM predict
92O-linkedHMM predict
132O-linkedHMM predict
146Phosphoserine(CK1)HMM predict
146Phosphoserine(CK2)HMM predict
156MethylarginineHMM predict
158Phosphoserine(ATM)HMM predict
317Phosphotyrosine(Syk)HMM predict
319Phosphothreonine(PKC)HMM predict
378S-palmitoylHMM predict
407N-linkedHMM predict
471Phosphoserine(CK1)HMM predict
471Phosphoserine(CDK)HMM predict
480Phosphotyrosine(Syk)HMM predict
504Phosphotyrosine(Syk)HMM predict
508SulfotyrosineHMM predict
602Phosphoserine(PKG)HMM predict
621Phosphoserine(CAMK2)HMM predict
621Phosphoserine(PKB)HMM predict
724O-linkedHMM predict
737Phosphoserine(IKK)HMM predict
771PhosphoserineHMM predict
771Phosphoserine(CDK)HMM predict
771Phosphoserine(CDC2)HMM predict
771O-linkedHMM predict
779O-linkedHMM predict
779Phosphoserine(CDC2)HMM predict
786O-linkedHMM predict
786PhosphoserineHMM predict
786Phosphoserine(MAPK)HMM predict
814Phosphoserine(PKG)HMM predict
821Phosphoserine(IKK)HMM predict
823Phosphoserine(ATM)HMM predict
823Phosphoserine(IKK)HMM predict
837O-linkedHMM predict
838Phosphothreonine(PKC)HMM predict
842O-linkedHMM predict
842Phosphoserine(IKK)HMM predict
843O-linkedHMM predict
844O-linkedHMM predict
851O-linkedHMM predict
860Phosphoserine(CDC2)HMM predict
866Phosphoserine(PKG)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001194
  • Location:chr19 540892-568156
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 539262 539968 706 1278
TFAP2C MCF7GSE21234 538986 539581 595 1609
hScc1 BcellGSE12603 539149 539524 375 1556
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 541727 542463 736 0
CTCF G2GSE9613 556316 556899 583 0
CTCF G2GSE9613 561294 561768 474 0
CTCF G2GSE9613 562226 562564 338 0
CTCF G2GSE9613 567777 567979 202 0
ETS1 JurkatGSE17954 561634 562782 1148 0
NRSF JurkatGSE13047 541977 543475 1498 0
NRSF-mono JurkatQuESTdata 541431 542987 1556 0
NRSF-poly JurkatQuESTdata 541788 543152 1364 0
P300 T0-glioblastomaGSE21026 562442 562872 430 0
SRF GMOGSE8489 542163 542658 495 0
TAF k562GSE8489 548613 548885 272 0
USF1 HepG2E 548415 548916 501 0
hScc1 BcellGSE12603 541684 542203 519 0
hScc1 BcellGSE12603 546230 546455 225 0
hScc1 BcellGSE12603 552834 553072 238 0
hScc1 BcellGSE12603 554464 554785 321 0
hScc1 BcellGSE12603 561433 561768 335 0
hScc1 BcellGSE12603 563982 564839 857 0
hScc1 BcellGSE12603 566645 567323 678 0
hScc1 BcellGSE12603 567777 568187 410 0
p130 shRbSenescentGSE19898 562464 562619 155 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 19136465
hsa-miR-1 hsa-mir-1-1 20 19136465
hsa-miR-1 hsa-mir-1-2 18 17516552
hsa-miR-1 hsa-mir-1-1 20 17516552
hsa-miR-133a hsa-mir-133a-1 18 19136465
hsa-miR-133a hsa-mir-133a-2 20 19136465
hsa-miR-133a hsa-mir-133a-1 18 17516552
hsa-miR-133a hsa-mir-133a-2 20 17516552
hsa-miR-133b hsa-mir-133b 6 19136465
hsa-miR-133b hsa-mir-133b 6 17516552
hsa-miR-155 hsa-mir-155 21 19136465
hsa-miR-155* hsa-mir-155 21 19136465
hsa-miR-17 hsa-mir-17 13 19136465
hsa-miR-17* hsa-mir-17 13 19136465
hsa-miR-21 hsa-mir-21 17 19136465
hsa-miR-21* hsa-mir-21 17 19136465
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
222 mRNA repression TRUE miR-1 HCN2 Luciferase assay - mutant MRE 18458081
452 mRNA repression TRUE miR-133 HCN2 Luciferase assay - mutant MRE 18458081
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000099822 "cardiac and skeletal muscles, cardiogenesis" cardiac hypertrophy down regulated n_a "malignant tumour, leukaemia"
ENSG00000099822 "cardiac and skeletal muscles, cardiogenesis" cardiac hypertrophy down regulated n_a "malignant tumour, leukaemia"
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