HCN2 (hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2) - Rat Genome Database

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Gene: HCN2 (hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2) Homo sapiens
Analyze
Symbol: HCN2
Name: hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2
RGD ID: 732305
HGNC Page HGNC
Description: Exhibits cation channel activity and identical protein binding activity. Involved in inorganic cation import across plasma membrane; regulation of membrane potential; and response to purine-containing compound. Localizes to HCN channel complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BCNG-2; BCNG2; brain cyclic nucleotide gated channel 2; brain cyclic nucleotide-gated channel 2; HAC-1; hyperpolarization activated cyclic nucleotide gated potassium channel 2; hyperpolarization activated cyclic nucleotide-gated potassium channel 2; potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC644110   LOC728424  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl19589,881 - 617,159 (+)EnsemblGRCh38hg38GRCh38
GRCh3819589,881 - 617,159 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3719589,881 - 617,159 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3619540,893 - 568,159 (+)NCBINCBI36hg18NCBI36
Build 3419540,892 - 568,157NCBI
Celera19200,463 - 228,092 (-)NCBI
Cytogenetic Map19p13.3NCBI
HuRef19373,968 - 384,301 (+)NCBIHuRef
CHM1_119589,749 - 616,575 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Seizure  (IAGP)
References

Additional References at PubMed
PMID:9405696   PMID:9630217   PMID:9921901   PMID:10228147   PMID:10524219   PMID:11076863   PMID:11133998   PMID:12034718   PMID:12194012   PMID:12477932   PMID:12640457   PMID:12813043  
PMID:12890777   PMID:12928435   PMID:15057824   PMID:15687126   PMID:15932727   PMID:15961404   PMID:15980171   PMID:16079136   PMID:16382102   PMID:16777944   PMID:17043149   PMID:17474147  
PMID:17931874   PMID:18768480   PMID:19584315   PMID:19913121   PMID:20437590   PMID:20628086   PMID:21615589   PMID:22006928   PMID:22094222   PMID:22131395   PMID:22748890   PMID:23395072  
PMID:23907424   PMID:24324597   PMID:24525276   PMID:25197093   PMID:25423599   PMID:25893612   PMID:26005035   PMID:26304511   PMID:26404789   PMID:26496610   PMID:26966193   PMID:27212063  
PMID:28017718   PMID:28864772   PMID:29047147   PMID:29054409   PMID:29064616   PMID:30021884   PMID:31682955   PMID:31916853  


Genomics

Comparative Map Data
HCN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl19589,881 - 617,159 (+)EnsemblGRCh38hg38GRCh38
GRCh3819589,881 - 617,159 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3719589,881 - 617,159 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3619540,893 - 568,159 (+)NCBINCBI36hg18NCBI36
Build 3419540,892 - 568,157NCBI
Celera19200,463 - 228,092 (-)NCBI
Cytogenetic Map19p13.3NCBI
HuRef19373,968 - 384,301 (+)NCBIHuRef
CHM1_119589,749 - 616,575 (+)NCBICHM1_1
Hcn2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391079,552,468 - 79,571,942 (+)NCBIGRCm39mm39
GRCm39 Ensembl1079,552,468 - 79,571,942 (+)Ensembl
GRCm381079,716,634 - 79,736,108 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1079,716,634 - 79,736,108 (+)EnsemblGRCm38mm10GRCm38
MGSCv371079,179,379 - 79,198,853 (+)NCBIGRCm37mm9NCBIm37
MGSCv361079,119,763 - 79,139,237 (+)NCBImm8
Celera1080,731,157 - 80,750,702 (+)NCBICelera
Cytogenetic Map10C1NCBI
Hcn2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.279,969,801 - 9,988,839 (-)NCBI
Rnor_6.0 Ensembl712,851,739 - 12,874,215 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0712,851,730 - 12,870,087 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0713,021,934 - 13,051,802 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4711,485,257 - 11,503,614 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1711,485,256 - 11,503,614 (-)NCBI
Celera78,143,888 - 8,161,946 (-)NCBICelera
Cytogenetic Map7q11NCBI
Hcn2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554957,124,640 - 7,194,223 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554957,124,060 - 7,143,730 (-)NCBIChiLan1.0ChiLan1.0
HCN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.119559,108 - 584,128 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v019521,348 - 528,203 (-)NCBIMhudiblu_PPA_v0panPan3
HCN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12057,920,089 - 57,941,057 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2057,920,740 - 57,938,374 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2057,722,746 - 57,741,278 (-)NCBI
ROS_Cfam_1.02058,663,358 - 58,681,919 (-)NCBI
UMICH_Zoey_3.12057,717,402 - 57,735,597 (-)NCBI
UNSW_CanFamBas_1.02058,196,864 - 58,215,545 (-)NCBI
UU_Cfam_GSD_1.02058,400,096 - 58,421,283 (-)NCBI
Hcn2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118217,625,528 - 217,639,390 (-)NCBI
SpeTri2.0NW_004936588202,101 - 209,255 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HCN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl277,708,161 - 77,730,881 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1277,708,159 - 77,730,881 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
HCN2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.16326,437 - 358,119 (+)NCBI
ChlSab1.1 Ensembl6324,517 - 358,119 (+)Ensembl
Hcn2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248287,889,616 - 7,908,855 (-)NCBI

Position Markers
D19S814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719599,811 - 599,927UniSTSGRCh37
Build 3619550,811 - 550,927RGDNCBI36
Celera19218,058 - 218,174RGD
Cytogenetic Map19p13.3UniSTS
HuRef19369,880 - 369,996UniSTS
PMC196911P5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719612,360 - 612,486UniSTSGRCh37
Build 3619563,360 - 563,486RGDNCBI36
Celera19205,136 - 205,260RGD
Cytogenetic Map19p13.3UniSTS
HuRef19382,674 - 382,816UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1-1hsa-miR-1Mirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI19136465
MIR1-1hsa-miR-1Tarbaseexternal_infoqPCRNEGATIVE
MIR1-1hsa-miR-1Mirecordsexternal_info{unchanged}NA18458081
MIR133A2hsa-miR-133aMirecordsexternal_info{unchanged}NA18458081
MIR133Bhsa-miR-133bMirtarbaseexternal_infoReporter assayFunctional MTI18458081

Predicted Target Of
Summary Value
Count of predictions:469
Count of miRNA genes:301
Interacting mature miRNAs:332
Transcripts:ENST00000251287
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 16 303 312 6 14 6 40 125 2995 48 113 97
Low 1698 1020 473 166 1217 85 1889 1020 345 212 808 610 92 1 181 973 2
Below cutoff 712 1649 906 425 689 348 2408 1032 393 141 519 890 80 1023 1797 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF064877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF065164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ012582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ133727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ133728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ133729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ133730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ133731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ133732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ133733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ133734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ854815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA696658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000251287   ⟹   ENSP00000251287
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl19589,881 - 617,159 (+)Ensembl
RefSeq Acc Id: NM_001194   ⟹   NP_001185
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819589,881 - 617,159 (+)NCBI
GRCh3719589,893 - 617,159 (+)ENTREZGENE
Build 3619540,893 - 568,159 (+)NCBI Archive
HuRef19373,968 - 384,301 (+)NCBI
CHM1_119589,749 - 616,575 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001185   ⟸   NM_001194
- UniProtKB: Q9UL51 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000251287   ⟸   ENST00000251287

Promoters
RGD ID:7237699
Promoter ID:EPDNEW_H24595
Type:initiation region
Name:HCN2_1
Description:hyperpolarization activated cyclic nucleotide gated potassiumchannel 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819589,925 - 589,985EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001194.4(HCN2):c.1571G>A (p.Gly524Glu) single nucleotide variant not provided [RCV000521631] Chr19:610392 [GRCh38]
Chr19:610392 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh38/hg38 19p13.3(chr19:259395-819679)x3 copy number gain See cases [RCV000051144] Chr19:259395..819679 [GRCh38]
Chr19:259395..819679 [GRCh37]
Chr19:210395..770679 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3 copy number gain See cases [RCV000051044] Chr19:259395..2555149 [GRCh38]
Chr19:259395..2555147 [GRCh37]
Chr19:210395..2506147 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:591812-1358152)x3 copy number gain See cases [RCV000052877] Chr19:591812..1358152 [GRCh38]
Chr19:591812..1358151 [GRCh37]
Chr19:542812..1309151 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-1952650)x3 copy number gain See cases [RCV000052875] Chr19:259395..1952650 [GRCh38]
Chr19:259395..1952649 [GRCh37]
Chr19:210395..1903649 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:266117-1076399)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|See cases [RCV000053911] Chr19:266117..1076399 [GRCh38]
Chr19:266117..1076398 [GRCh37]
Chr19:217117..1027398 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259195-1351363)x1 copy number loss See cases [RCV000053910] Chr19:259195..1351363 [GRCh38]
Chr19:259195..1351362 [GRCh37]
Chr19:210195..1302362 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3 copy number gain See cases [RCV000134894] Chr19:421537..2897921 [GRCh38]
Chr19:421537..2897919 [GRCh37]
Chr19:372537..2848919 [NCBI36]
Chr19:19p13.3		 likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2068507)x3 copy number gain See cases [RCV000135433] Chr19:259395..2068507 [GRCh38]
Chr19:259395..2068506 [GRCh37]
Chr19:210395..2019506 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:275925-1892276)x3 copy number gain See cases [RCV000141358] Chr19:275925..1892276 [GRCh38]
Chr19:275925..1892275 [GRCh37]
Chr19:226925..1843275 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3		 pathogenic
NM_001194.4(HCN2):c.2144_2146CGC[4] (p.Pro719_Pro721del) microsatellite not provided [RCV000884646]|not specified [RCV000239034] Chr19:615947..615955 [GRCh38]
Chr19:615947..615955 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:260912-1163934)x3 copy number gain See cases [RCV000239425] Chr19:260912..1163934 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3 copy number gain See cases [RCV000240507] Chr19:277373..2555164 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_001194.4(HCN2):c.2167G>A (p.Val723Ile) single nucleotide variant not provided [RCV000418676] Chr19:615971 [GRCh38]
Chr19:615971 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001194.4(HCN2):c.433G>C (p.Gly145Arg) single nucleotide variant not provided [RCV000440051] Chr19:590378 [GRCh38]
Chr19:590378 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001194.4(HCN2):c.1584+7C>T single nucleotide variant not specified [RCV000454612] Chr19:610412 [GRCh38]
Chr19:610412 [GRCh37]
Chr19:19p13.3		 likely benign
NM_001194.4(HCN2):c.2332G>C (p.Ala778Pro) single nucleotide variant not specified [RCV000455083] Chr19:616136 [GRCh38]
Chr19:616136 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001194.4(HCN2):c.246C>T (p.Cys82=) single nucleotide variant not specified [RCV000455740] Chr19:590191 [GRCh38]
Chr19:590191 [GRCh37]
Chr19:19p13.3		 likely benign
NM_001194.4(HCN2):c.1628C>T (p.Pro543Leu) single nucleotide variant not provided [RCV000478576] Chr19:613291 [GRCh38]
Chr19:613291 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-1965786)x3 copy number gain See cases [RCV000511452] Chr19:260911..1965786 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3(chr19:415092-715725)x3 copy number gain See cases [RCV000511102] Chr19:415092..715725 [GRCh37]
Chr19:19p13.3		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3(chr19:259395-3152419) copy number gain Global developmental delay [RCV000626520] Chr19:259395..3152419 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3(chr19:266117-1094614)x3 copy number gain not provided [RCV000513059] Chr19:266117..1094614 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3 copy number gain not provided [RCV000684094] Chr19:260911..3200875 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3(chr19:572671-622207)x3 copy number gain not provided [RCV000739938] Chr19:572671..622207 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:572671-663929)x3 copy number gain not provided [RCV000739939] Chr19:572671..663929 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:572671-757752)x3 copy number gain not provided [RCV000739940] Chr19:572671..757752 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:578208-622207)x4 copy number gain not provided [RCV000739941] Chr19:578208..622207 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:578208-675106)x3 copy number gain not provided [RCV000739942] Chr19:578208..675106 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:578668-675106)x3 copy number gain not provided [RCV000739943] Chr19:578668..675106 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:585805-622207)x4 copy number gain not provided [RCV000739944] Chr19:585805..622207 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3(chr19:423160-1429367)x3 copy number gain not provided [RCV000752449] Chr19:423160..1429367 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:454430-617466)x3 copy number gain not provided [RCV000752450] Chr19:454430..617466 [GRCh37]
Chr19:19p13.3		 benign
NM_001194.4(HCN2):c.1731C>T (p.Ile577=) single nucleotide variant not provided [RCV000925043] Chr19:613394 [GRCh38]
Chr19:613394 [GRCh37]
Chr19:19p13.3		 benign
NM_001194.4(HCN2):c.1572G>A (p.Gly524=) single nucleotide variant not provided [RCV000921429] Chr19:610393 [GRCh38]
Chr19:610393 [GRCh37]
Chr19:19p13.3		 likely benign
NM_001194.4(HCN2):c.1991-4G>T single nucleotide variant not provided [RCV000971664] Chr19:615791 [GRCh38]
Chr19:615791 [GRCh37]
Chr19:19p13.3		 benign
NM_001194.4(HCN2):c.2144_2146CGC[8] (p.Pro721dup) microsatellite not provided [RCV000968754] Chr19:615946..615947 [GRCh38]
Chr19:615946..615947 [GRCh37]
Chr19:19p13.3		 likely benign
NM_001194.4(HCN2):c.1692C>T (p.Val564=) single nucleotide variant not provided [RCV000930161] Chr19:613355 [GRCh38]
Chr19:613355 [GRCh37]
Chr19:19p13.3		 likely benign
NM_001194.4(HCN2):c.2304C>T (p.Ala768=) single nucleotide variant not provided [RCV000915889] Chr19:616108 [GRCh38]
Chr19:616108 [GRCh37]
Chr19:19p13.3		 likely benign
NM_001194.4(HCN2):c.1143C>T (p.Asp381=) single nucleotide variant not provided [RCV000915888] Chr19:605147 [GRCh38]
Chr19:605147 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3 copy number gain not provided [RCV001007025] Chr19:260911..3501271 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_001194.4(HCN2):c.2371C>A (p.Arg791=) single nucleotide variant not provided [RCV000908400] Chr19:616175 [GRCh38]
Chr19:616175 [GRCh37]
Chr19:19p13.3		 likely benign
NM_001194.4(HCN2):c.1239G>A (p.Leu413=) single nucleotide variant not provided [RCV000948465] Chr19:607984 [GRCh38]
Chr19:607984 [GRCh37]
Chr19:19p13.3		 benign
NM_001194.4(HCN2):c.2625G>T (p.Leu875=) single nucleotide variant not provided [RCV000957798] Chr19:616429 [GRCh38]
Chr19:616429 [GRCh37]
Chr19:19p13.3		 likely benign
NM_001194.4(HCN2):c.1950C>T (p.Arg650=) single nucleotide variant not provided [RCV000914018] Chr19:613976 [GRCh38]
Chr19:613976 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_001194.4(HCN2):c.1889T>C (p.Leu630Pro) single nucleotide variant not provided [RCV001195829] Chr19:613915 [GRCh38]
Chr19:613915 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001032652] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001194.4(HCN2):c.1130T>A (p.Leu377His) single nucleotide variant not provided [RCV001203638] Chr19:605134 [GRCh38]
Chr19:605134 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:352288-633755)x3 copy number gain not provided [RCV001259375] Chr19:352288..633755 [GRCh37]
Chr19:19p13.3		 likely benign
GRCh37/hg19 19p13.3(chr19:414714-713630)x3 copy number gain not provided [RCV001259376] Chr19:414714..713630 [GRCh37]
Chr19:19p13.3		 likely benign
NM_001194.4(HCN2):c.1120A>C (p.Met374Leu) single nucleotide variant Neurodevelopmental disorder [RCV001263003] Chr19:605124 [GRCh38]
Chr19:605124 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001194.4(HCN2):c.1384G>A (p.Ala462Thr) single nucleotide variant Inborn genetic diseases [RCV001266658] Chr19:608129 [GRCh38]
Chr19:608129 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001194.4(HCN2):c.2575C>T (p.Pro859Ser) single nucleotide variant Inborn genetic diseases [RCV001266662] Chr19:616379 [GRCh38]
Chr19:616379 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001307813] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001194.4(HCN2):c.2149C>T (p.Pro717Ser) single nucleotide variant Seizures [RCV001281485] Chr19:615953 [GRCh38]
Chr19:615953 [GRCh37]
Chr19:19p13.3		 uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4846 AgrOrtholog
COSMIC HCN2 COSMIC
Ensembl Genes ENSG00000099822 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000251287 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000251287 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.10 UniProtKB/Swiss-Prot
GTEx ENSG00000099822 GTEx
HGNC ID HGNC:4846 ENTREZGENE
Human Proteome Map HCN2 Human Proteome Map
InterPro cNMP-bd-like UniProtKB/Swiss-Prot
  cNMP-bd_CS UniProtKB/Swiss-Prot
  cNMP-bd_dom UniProtKB/Swiss-Prot
  Ion_trans_dom UniProtKB/Swiss-Prot
  Ion_trans_N UniProtKB/Swiss-Prot
  K_chnl_volt-dep_EAG/ELK/ERG UniProtKB/Swiss-Prot
  RmlC-like_jellyroll UniProtKB/Swiss-Prot
KEGG Report hsa:610 UniProtKB/Swiss-Prot
NCBI Gene 610 ENTREZGENE
OMIM 602781 OMIM
Pfam cNMP_binding UniProtKB/Swiss-Prot
  Ion_trans UniProtKB/Swiss-Prot
  Ion_trans_N UniProtKB/Swiss-Prot
PharmGKB HCN2 RGD, PharmGKB
PRINTS EAGCHANLFMLY UniProtKB/Swiss-Prot
PROSITE CNMP_BINDING_1 UniProtKB/Swiss-Prot
  CNMP_BINDING_3 UniProtKB/Swiss-Prot
SMART cNMP UniProtKB/Swiss-Prot
Superfamily-SCOP SSF51206 UniProtKB/Swiss-Prot
UniProt HCN2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary O60742 UniProtKB/Swiss-Prot
  O60743 UniProtKB/Swiss-Prot
  O75267 UniProtKB/Swiss-Prot
  Q9UBS2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-05-30 HCN2  hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2    hyperpolarization activated cyclic nucleotide gated potassium channel 2  Symbol and/or name change 5135510 APPROVED
2015-01-20 HCN2  hyperpolarization activated cyclic nucleotide gated potassium channel 2    hyperpolarization activated cyclic nucleotide-gated potassium channel 2  Symbol and/or name change 5135510 APPROVED