CHN2 (chimerin 2) - Rat Genome Database

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Gene: CHN2 (chimerin 2) Homo sapiens
Analyze
Symbol: CHN2
Name: chimerin 2
RGD ID: 329961580
HGNC Page HGNC:1944
Description: Enables GTPase activator activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Located in synapse.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ARHGAP3; BCH; beta-chimaerin; beta-chimerin; beta3-chimaerin; chimerin (chimaerin) 2; chimerin, beta-2; chimerin, testis-specific; CHN2-3; rho-GTPase-activating protein 3; RHOGAP3
RGD Orthologs
Mouse
Rat
Dog
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38729,146,591 - 29,514,328 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl729,146,547 - 29,514,328 (+)EnsemblGRCh38hg38GRCh38
GRCh37729,186,207 - 29,553,944 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map7p14.3NCBI
HuRef729,115,775 - 29,435,673 (+)NCBIHuRef
CHM1_1729,234,238 - 29,554,150 (+)NCBICHM1_1
T2T-CHM13v2.0729,284,405 - 29,652,211 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
dextran sulfate  (ISO)
dibenz[a,h]anthracene  (ISO)
dibenzo[a,l]pyrene  (EXP)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
finasteride  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
genistein  (EXP)
hydralazine  (EXP)
hydrogen peroxide  (EXP)
L-methionine  (ISO)
leflunomide  (EXP,ISO)
methapyrilene  (EXP)
methylmercury chloride  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-Nitrosopyrrolidine  (EXP)
nicotinic acid  (ISO)
O-methyleugenol  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
perfluorononanoic acid  (EXP)
permethrin  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
progesterone  (EXP)
quercetin  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (TAS)
membrane  (IEA)
synapse  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:7614486   PMID:8175705   PMID:8889548   PMID:9334226   PMID:10518540   PMID:11278894   PMID:11689559   PMID:12477932   PMID:12690205   PMID:12716467   PMID:12853948   PMID:12877655  
PMID:14702039   PMID:15489334   PMID:15507211   PMID:15653288   PMID:15761153   PMID:15863513   PMID:16169070   PMID:16273093   PMID:16344560   PMID:16352660   PMID:16428439   PMID:16525710  
PMID:16628218   PMID:17560670   PMID:17803461   PMID:18249095   PMID:18519826   PMID:19201754   PMID:19306875   PMID:19720790   PMID:19911011   PMID:20335173   PMID:20379614   PMID:20460425  
PMID:20602751   PMID:20818722   PMID:21873635   PMID:21911749   PMID:23251661   PMID:23941981   PMID:24132900   PMID:24854763   PMID:25057852   PMID:25814554   PMID:26315110   PMID:27058424  
PMID:28160556   PMID:28514442   PMID:31594917   PMID:32203420   PMID:32296183   PMID:33961781   PMID:34089273   PMID:35819319   PMID:37120575  


Genomics

Comparative Map Data
CHN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38729,146,591 - 29,514,328 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl729,146,547 - 29,514,328 (+)EnsemblGRCh38hg38GRCh38
GRCh37729,186,207 - 29,553,944 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map7p14.3NCBI
HuRef729,115,775 - 29,435,673 (+)NCBIHuRef
CHM1_1729,234,238 - 29,554,150 (+)NCBICHM1_1
T2T-CHM13v2.0729,284,405 - 29,652,211 (+)NCBIT2T-CHM13v2.0
Chn2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39654,016,917 - 54,278,797 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl654,016,539 - 54,278,795 (+)EnsemblGRCm39 Ensembl
GRCm38654,039,932 - 54,301,812 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl654,039,554 - 54,301,810 (+)EnsemblGRCm38mm10GRCm38
MGSCv37653,989,926 - 54,251,806 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36654,202,399 - 54,231,388 (+)NCBIMGSCv36mm8
Celera654,569,510 - 54,833,021 (+)NCBICelera
Cytogenetic Map6B3NCBI
cM Map626.54NCBI
Chn2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8484,478,989 - 84,738,068 (+)NCBIGRCr8
mRatBN7.2483,148,616 - 83,407,711 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl483,147,983 - 83,407,709 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx488,370,092 - 88,629,056 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0484,145,507 - 84,404,477 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0482,568,244 - 82,827,277 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0484,423,708 - 84,452,989 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl484,194,347 - 84,454,500 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04149,084,648 - 149,113,929 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4482,649,232 - 82,678,513 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1482,933,853 - 82,963,134 (+)NCBI
Celera478,252,779 - 78,282,084 (+)NCBICelera
Cytogenetic Map4q24NCBI
CHN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11442,217,678 - 42,513,370 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1442,217,739 - 42,512,188 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1441,652,123 - 41,947,336 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01442,159,196 - 42,454,949 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1442,159,050 - 42,454,964 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11442,276,263 - 42,571,902 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01441,955,181 - 42,250,617 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01442,313,119 - 42,608,875 (+)NCBIUU_Cfam_GSD_1.0

Variants

.
Variants in CHN2
23 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_004067.4(CHN2):c.49+68970_49+69013del deletion Schizophrenia [RCV002463491] Chr7:29263960..29264003 [GRCh38]
Chr7:29303576..29303619 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_004067.4(CHN2):c.406A>G (p.Ile136Val) single nucleotide variant not specified [RCV004093042] Chr7:29400658 [GRCh38]
Chr7:29440274 [GRCh37]
Chr7:7p14.3		 uncertain significance
GRCh37/hg19 7p14.3(chr7:29208774-29538994)x3 copy number gain not provided [RCV000682827] Chr7:29208774..29538994 [GRCh37]
Chr7:7p14.3		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069) copy number loss Cyclical vomiting syndrome [RCV002280775] Chr7:25451740..33864069 [GRCh37]
Chr7:7p15.3-14.3		 pathogenic
NM_004067.4(CHN2):c.1147G>A (p.Glu383Lys) single nucleotide variant not specified [RCV004221349] Chr7:29509318 [GRCh38]
Chr7:29548934 [GRCh37]
Chr7:7p14.3		 uncertain significance
GRCh37/hg19 7p15.1-14.3(chr7:28487175-32037495)x3 copy number gain not provided [RCV001005926] Chr7:28487175..32037495 [GRCh37]
Chr7:7p15.1-14.3		 likely pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 copy number gain See cases [RCV000446478] Chr7:11562624..36395416 [GRCh37]
Chr7:7p21.3-14.2		 pathogenic
NM_004067.4(CHN2):c.17A>C (p.Asn6Thr) single nucleotide variant not specified [RCV004322558] Chr7:29194958 [GRCh38]
Chr7:29234574 [GRCh37]
Chr7:7p14.3		 uncertain significance
GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167) copy number gain not specified [RCV002053668] Chr7:10745750..35305167 [GRCh37]
Chr7:7p21.3-14.2		 likely pathogenic
NM_004067.4(CHN2):c.259C>T (p.Arg87Trp) single nucleotide variant not specified [RCV004151446] Chr7:29398455 [GRCh38]
Chr7:29438071 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_004067.4(CHN2):c.896G>A (p.Arg299Gln) single nucleotide variant not specified [RCV004241072] Chr7:29500023 [GRCh38]
Chr7:29539639 [GRCh37]
Chr7:7p14.3		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p14.3(chr7:29253743-29522760)x3 copy number gain See cases [RCV000449477] Chr7:29253743..29522760 [GRCh37]
Chr7:7p14.3		 uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p14.3(chr7:29211267-29536564)x3 copy number gain not provided [RCV000746582] Chr7:29211267..29536564 [GRCh37]
Chr7:7p14.3		 benign
GRCh37/hg19 7p14.3(chr7:29209361-29535998)x3 copy number gain Premature ovarian failure [RCV000225177] Chr7:29209361..29535998 [GRCh37]
Chr7:7p14.3		 benign
NM_004067.4(CHN2):c.88+5444_88+5482del deletion Schizophrenia [RCV002463492] Chr7:29360107..29360145 [GRCh38]
Chr7:29399723..29399761 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_004067.4(CHN2):c.1232A>G (p.Lys411Arg) single nucleotide variant not specified [RCV004072637] Chr7:29509403 [GRCh38]
Chr7:29549019 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_004067.4(CHN2):c.1312C>T (p.Pro438Ser) single nucleotide variant CHN2-related condition [RCV003915916]|not provided [RCV000956471] Chr7:29512640 [GRCh38]
Chr7:29552256 [GRCh37]
Chr7:7p14.3		 benign
GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1 copy number loss not provided [RCV001005924] Chr7:23877135..33139446 [GRCh37]
Chr7:7p15.3-14.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1		 pathogenic
GRCh37/hg19 7p14.3(chr7:29432479-29470861)x1 copy number loss not provided [RCV000746583] Chr7:29432479..29470861 [GRCh37]
Chr7:7p14.3		 benign
NC_000007.13:g.23236782_30690453del7453672 deletion Silver Russell Syndrome-related disorder [RCV000785664] Chr7:23236782..30690453 [GRCh37]
Chr7:7p15.3-14.3		 pathogenic
NM_004067.4(CHN2):c.1139A>G (p.Asn380Ser) single nucleotide variant not specified [RCV004199619] Chr7:29509310 [GRCh38]
Chr7:29548926 [GRCh37]
Chr7:7p14.3		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p14.3(chr7:29030620-29796236)x1 copy number loss See cases [RCV000141239] Chr7:29030620..29796236 [GRCh38]
Chr7:29070236..29835852 [GRCh37]
Chr7:29036761..29802377 [NCBI36]
Chr7:7p14.3		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 pathogenic
GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1 copy number loss See cases [RCV000136775] Chr7:20561456..32005143 [GRCh38]
Chr7:20601079..32044755 [GRCh37]
Chr7:20567604..32011280 [NCBI36]
Chr7:7p21.1-14.3		 pathogenic
NM_004067.4(CHN2):c.1249G>A (p.Glu417Lys) single nucleotide variant not specified [RCV004212683] Chr7:29512577 [GRCh38]
Chr7:29552193 [GRCh37]
Chr7:7p14.3		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1 copy number loss not provided [RCV002475752] Chr7:27133786..34466477 [GRCh37]
Chr7:7p15.2-14.3		 pathogenic
NM_004067.4(CHN2):c.497T>C (p.Val166Ala) single nucleotide variant not specified [RCV004242647] Chr7:29400749 [GRCh38]
Chr7:29440365 [GRCh37]
Chr7:7p14.3		 uncertain significance
GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1 copy number loss See cases [RCV000240125] Chr7:22935369..32621975 [GRCh37]
Chr7:7p15.3-14.3		 pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3		 pathogenic
GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473) copy number gain not specified [RCV002053677] Chr7:27507832..39072473 [GRCh37]
Chr7:7p15.2-14.1		 likely pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic
NM_004067.4(CHN2):c.1288G>A (p.Val430Met) single nucleotide variant not specified [RCV004344472] Chr7:29512616 [GRCh38]
Chr7:29552232 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_004067.4(CHN2):c.962T>A (p.Ile321Asn) single nucleotide variant not specified [RCV004356413] Chr7:29504792 [GRCh38]
Chr7:29544408 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_004067.4(CHN2):c.870A>C (p.Arg290Ser) single nucleotide variant not specified [RCV004352170] Chr7:29499997 [GRCh38]
Chr7:29539613 [GRCh37]
Chr7:7p14.3		 uncertain significance
GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1 copy number loss not specified [RCV003986712] Chr7:17736012..30663423 [GRCh37]
Chr7:7p21.1-14.3		 pathogenic
NM_004067.4(CHN2):c.1161C>T (p.Ala387=) single nucleotide variant CHN2-related condition [RCV003941541] Chr7:29509332 [GRCh38]
Chr7:29548948 [GRCh37]
Chr7:7p14.3		 likely benign
GRCh37/hg19 7p14.3(chr7:28940557-31806164)x3 copy number gain not specified [RCV003986729] Chr7:28940557..31806164 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_004067.4(CHN2):c.91T>C (p.Tyr31His) single nucleotide variant not provided [RCV003991853] Chr7:29367934 [GRCh38]
Chr7:29407550 [GRCh37]
Chr7:7p14.3		 likely benign
NM_001398427.1(CHN2):c.-646G>A single nucleotide variant CHN2-related condition [RCV003924057] Chr7:29146601 [GRCh38]
Chr7:29186217 [GRCh37]
Chr7:7p14.3		 benign
NM_004067.4(CHN2):c.445A>G (p.Thr149Ala) single nucleotide variant not specified [RCV004439355] Chr7:29400697 [GRCh38]
Chr7:29440313 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_004067.4(CHN2):c.472delinsATCC (p.Tyr158delinsIleHis) indel CHN2-related condition [RCV003959696] Chr7:29400724 [GRCh38]
Chr7:29440340 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_004067.4(CHN2):c.914-22TC[6] microsatellite CHN2-related condition [RCV003944607] Chr7:29504722..29504725 [GRCh38]
Chr7:29544338..29544341 [GRCh37]
Chr7:7p14.3		 likely benign
NM_004067.4(CHN2):c.291-7C>T single nucleotide variant CHN2-related condition [RCV003962102] Chr7:29400536 [GRCh38]
Chr7:29440152 [GRCh37]
Chr7:7p14.3		 benign
NM_004067.4(CHN2):c.50-61702A>T single nucleotide variant CHN2-related condition [RCV003922174] Chr7:29292923 [GRCh38]
Chr7:29332539 [GRCh37]
Chr7:7p14.3		 benign
NM_004067.4(CHN2):c.-6G>A single nucleotide variant CHN2-related condition [RCV003931842] Chr7:29194936 [GRCh38]
Chr7:29234552 [GRCh37]
Chr7:7p14.3		 likely benign
NM_004067.4(CHN2):c.1005C>T (p.Ala335=) single nucleotide variant CHN2-related condition [RCV003951951] Chr7:29507241 [GRCh38]
Chr7:29546857 [GRCh37]
Chr7:7p14.3		 likely benign
NM_004067.4(CHN2):c.834C>T (p.Asp278=) single nucleotide variant CHN2-related condition [RCV003903836] Chr7:29499961 [GRCh38]
Chr7:29539577 [GRCh37]
Chr7:7p14.3		 benign
NM_004067.4(CHN2):c.1210C>T (p.Arg404Trp) single nucleotide variant not specified [RCV004439354] Chr7:29509381 [GRCh38]
Chr7:29548997 [GRCh37]
Chr7:7p14.3		 uncertain significance
NM_001398427.1(CHN2):c.-442T>C single nucleotide variant CHN2-related condition [RCV003957328] Chr7:29146908 [GRCh38]
Chr7:29186524 [GRCh37]
Chr7:7p14.3		 likely benign
NM_004067.4(CHN2):c.1269T>C (p.Asn423=) single nucleotide variant CHN2-related condition [RCV003977303] Chr7:29512597 [GRCh38]
Chr7:29552213 [GRCh37]
Chr7:7p14.3		 benign
NM_004067.4(CHN2):c.1006G>A (p.Asp336Asn) single nucleotide variant CHN2-related condition [RCV003911945] Chr7:29507242 [GRCh38]
Chr7:29546858 [GRCh37]
Chr7:7p14.3		 likely benign
NM_001398427.1(CHN2):c.-601C>T single nucleotide variant CHN2-related condition [RCV003896293] Chr7:29146646 [GRCh38]
Chr7:29186262 [GRCh37]
Chr7:7p14.3		 likely benign
NM_001398427.1(CHN2):c.-511T>G single nucleotide variant CHN2-related condition [RCV003909816] Chr7:29146736 [GRCh38]
Chr7:29186352 [GRCh37]
Chr7:7p14.3		 benign
NM_001398427.1(CHN2):c.-501-8C>T single nucleotide variant CHN2-related condition [RCV003923885] Chr7:29146841 [GRCh38]
Chr7:29186457 [GRCh37]
Chr7:7p14.3		 benign
NM_004067.4(CHN2):c.1381A>G (p.Ile461Val) single nucleotide variant Neuropathy, congenital hypomyelinating, 2 [RCV003990594] Chr7:29512709 [GRCh38]
Chr7:29552325 [GRCh37]
Chr7:7p14.3		 uncertain significance

Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001039936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001398427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_120524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_120525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA521339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ446523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU743119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX116694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA096970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA098992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA105459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA190643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU732750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU732751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU732752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU732753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU732754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU732755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU732756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU732757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU732758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU732759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU732760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU732761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU732762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU732763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU732764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU732765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU732766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ924106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LS482359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U28926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: NM_001039936   ⟹   NP_001035025
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,480,053 - 29,514,328 (+)NCBI
T2T-CHM13v2.0729,617,930 - 29,652,211 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293070   ⟹   NP_001279999
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,194,775 - 29,514,328 (+)NCBI
T2T-CHM13v2.0729,332,585 - 29,652,211 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293071   ⟹   NP_001280000
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,194,775 - 29,514,328 (+)NCBI
T2T-CHM13v2.0729,332,585 - 29,652,211 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293072   ⟹   NP_001280001
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,197,741 - 29,514,328 (+)NCBI
T2T-CHM13v2.0729,335,561 - 29,652,211 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293073   ⟹   NP_001280002
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,480,053 - 29,514,328 (+)NCBI
T2T-CHM13v2.0729,617,930 - 29,652,211 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293075   ⟹   NP_001280004
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,480,053 - 29,514,328 (+)NCBI
T2T-CHM13v2.0729,617,930 - 29,652,211 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293076   ⟹   NP_001280005
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,480,053 - 29,514,328 (+)NCBI
T2T-CHM13v2.0729,617,930 - 29,652,211 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293077   ⟹   NP_001280006
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,480,053 - 29,514,328 (+)NCBI
T2T-CHM13v2.0729,617,930 - 29,652,211 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293078   ⟹   NP_001280007
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,480,053 - 29,514,328 (+)NCBI
T2T-CHM13v2.0729,617,930 - 29,652,211 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293079   ⟹   NP_001280008
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,480,053 - 29,514,328 (+)NCBI
T2T-CHM13v2.0729,617,930 - 29,652,211 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293080   ⟹   NP_001280009
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,480,053 - 29,514,328 (+)NCBI
T2T-CHM13v2.0729,617,930 - 29,652,211 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293081   ⟹   NP_001280010
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,483,816 - 29,514,328 (+)NCBI
T2T-CHM13v2.0729,621,682 - 29,652,211 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001398427   ⟹   NP_001385356
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,146,591 - 29,514,328 (+)NCBI
T2T-CHM13v2.0729,284,405 - 29,652,211 (+)NCBI
RefSeq Acc Id: NM_004067   ⟹   NP_004058
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,194,775 - 29,514,328 (+)NCBI
T2T-CHM13v2.0729,332,585 - 29,652,211 (+)NCBI
Sequence:
RefSeq Acc Id: NR_120524
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,479,754 - 29,514,328 (+)NCBI
T2T-CHM13v2.0729,617,631 - 29,652,211 (+)NCBI
Sequence:
RefSeq Acc Id: NR_120525
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,479,754 - 29,514,328 (+)NCBI
T2T-CHM13v2.0729,617,631 - 29,652,211 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011515105   ⟹   XP_011513407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,146,591 - 29,514,328 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011515106   ⟹   XP_011513408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,146,591 - 29,514,328 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011515107   ⟹   XP_011513409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,194,775 - 29,514,328 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011722   ⟹   XP_016867211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,194,775 - 29,514,328 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047419839   ⟹   XP_047275795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,293,305 - 29,514,328 (+)NCBI
RefSeq Acc Id: XM_047419840   ⟹   XP_047275796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,296,400 - 29,514,328 (+)NCBI
RefSeq Acc Id: XM_047419841   ⟹   XP_047275797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,334,535 - 29,514,328 (+)NCBI
RefSeq Acc Id: XM_047419842   ⟹   XP_047275798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,376,394 - 29,514,328 (+)NCBI
RefSeq Acc Id: XM_054357169   ⟹   XP_054213144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0729,284,405 - 29,652,211 (+)NCBI
RefSeq Acc Id: XM_054357170   ⟹   XP_054213145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0729,284,405 - 29,652,211 (+)NCBI
RefSeq Acc Id: XM_054357171   ⟹   XP_054213146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0729,431,232 - 29,652,211 (+)NCBI
RefSeq Acc Id: XM_054357172   ⟹   XP_054213147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0729,332,585 - 29,652,211 (+)NCBI
RefSeq Acc Id: XM_054357173   ⟹   XP_054213148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0729,332,585 - 29,652,211 (+)NCBI
RefSeq Acc Id: XM_054357174   ⟹   XP_054213149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0729,434,260 - 29,652,211 (+)NCBI
RefSeq Acc Id: XM_054357175   ⟹   XP_054213150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0729,472,393 - 29,652,211 (+)NCBI
RefSeq Acc Id: XM_054357176   ⟹   XP_054213151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0729,513,397 - 29,652,211 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001035025 (Get FASTA)   NCBI Sequence Viewer  
  NP_001279999 (Get FASTA)   NCBI Sequence Viewer  
  NP_001280000 (Get FASTA)   NCBI Sequence Viewer  
  NP_001280001 (Get FASTA)   NCBI Sequence Viewer  
  NP_001280002 (Get FASTA)   NCBI Sequence Viewer  
  NP_001280004 (Get FASTA)   NCBI Sequence Viewer  
  NP_001280005 (Get FASTA)   NCBI Sequence Viewer  
  NP_001280006 (Get FASTA)   NCBI Sequence Viewer  
  NP_001280007 (Get FASTA)   NCBI Sequence Viewer  
  NP_001280008 (Get FASTA)   NCBI Sequence Viewer  
  NP_001280009 (Get FASTA)   NCBI Sequence Viewer  
  NP_001280010 (Get FASTA)   NCBI Sequence Viewer  
  NP_001385356 (Get FASTA)   NCBI Sequence Viewer  
  NP_004058 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513407 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513408 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513409 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867211 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275795 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275796 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275797 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275798 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213144 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213145 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213146 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213147 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213148 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213149 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213150 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213151 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA86528 (Get FASTA)   NCBI Sequence Viewer  
  AAC06177 (Get FASTA)   NCBI Sequence Viewer  
  AAI12156 (Get FASTA)   NCBI Sequence Viewer  
  AAS02045 (Get FASTA)   NCBI Sequence Viewer  
  AAS07498 (Get FASTA)   NCBI Sequence Viewer  
  ACF04987 (Get FASTA)   NCBI Sequence Viewer  
  ACF04988 (Get FASTA)   NCBI Sequence Viewer  
  ACF04989 (Get FASTA)   NCBI Sequence Viewer  
  ACF04990 (Get FASTA)   NCBI Sequence Viewer  
  ACF04991 (Get FASTA)   NCBI Sequence Viewer  
  ACF04992 (Get FASTA)   NCBI Sequence Viewer  
  ACF04993 (Get FASTA)   NCBI Sequence Viewer  
  ACF04994 (Get FASTA)   NCBI Sequence Viewer  
  ACF04995 (Get FASTA)   NCBI Sequence Viewer  
  ACF04996 (Get FASTA)   NCBI Sequence Viewer  
  ACF04997 (Get FASTA)   NCBI Sequence Viewer  
  ACF04998 (Get FASTA)   NCBI Sequence Viewer  
  ACF04999 (Get FASTA)   NCBI Sequence Viewer  
  ACF05000 (Get FASTA)   NCBI Sequence Viewer  
  ACF05001 (Get FASTA)   NCBI Sequence Viewer  
  ACF05002 (Get FASTA)   NCBI Sequence Viewer  
  ACF05003 (Get FASTA)   NCBI Sequence Viewer  
  ADK47390 (Get FASTA)   NCBI Sequence Viewer  
  BAG35856 (Get FASTA)   NCBI Sequence Viewer  
  BAH11636 (Get FASTA)   NCBI Sequence Viewer  
  BAH11655 (Get FASTA)   NCBI Sequence Viewer  
  BAH11701 (Get FASTA)   NCBI Sequence Viewer  
  BAH11718 (Get FASTA)   NCBI Sequence Viewer  
  BAH13437 (Get FASTA)   NCBI Sequence Viewer  
  BAH14401 (Get FASTA)   NCBI Sequence Viewer  
  EAL24205 (Get FASTA)   NCBI Sequence Viewer  
  EAL24206 (Get FASTA)   NCBI Sequence Viewer  
  EAW93919 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000222792
  ENSP00000222792.7
  ENSP00000386849
  ENSP00000386849.5
  ENSP00000386968
  ENSP00000386968.2
  ENSP00000387425
  ENSP00000387425.3
  ENSP00000394284
  ENSP00000394284.2
  ENSP00000396867.2
  ENSP00000398326.1
  ENSP00000406337
  ENSP00000406337.3
  ENSP00000486515
  ENSP00000486515.1
  ENSP00000516236.1
  ENSP00000516237.1
  ENSP00000516238.1
  ENSP00000516239
  ENSP00000516239.1
  ENSP00000516240.1
  ENSP00000516241.1
  ENSP00000516242.1
  ENSP00000516243
  ENSP00000516243.1
GenBank Protein P52757 (Get FASTA)   NCBI Sequence Viewer  
  SPT35736 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: XP_011513407   ⟸   XM_011515105
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011513408   ⟸   XM_011515106
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001385356   ⟸   NM_001398427
- Peptide Label: isoform 15
RefSeq Acc Id: XP_016867211   ⟸   XM_017011722
- Peptide Label: isoform X2
- UniProtKB: H7C0V3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513409   ⟸   XM_011515107
- Peptide Label: isoform X3
- UniProtKB: A0A994J7L4 (UniProtKB/TrEMBL),   H7C0V3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001279999   ⟸   NM_001293070
- Peptide Label: isoform 4
- UniProtKB: B7Z1V0 (UniProtKB/TrEMBL),   B8ZZU1 (UniProtKB/TrEMBL),   H7C0V3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004058   ⟸   NM_004067
- Peptide Label: isoform 2
- UniProtKB: Q75MM2 (UniProtKB/Swiss-Prot),   Q2M203 (UniProtKB/Swiss-Prot),   P52757 (UniProtKB/Swiss-Prot),   F8QPL9 (UniProtKB/Swiss-Prot),   E9PGE0 (UniProtKB/Swiss-Prot),   C9J7B0 (UniProtKB/Swiss-Prot),   B3VCG1 (UniProtKB/Swiss-Prot),   B3VCF7 (UniProtKB/Swiss-Prot),   B3VCF3 (UniProtKB/Swiss-Prot),   B3VCF2 (UniProtKB/Swiss-Prot),   B3VCF1 (UniProtKB/Swiss-Prot),   A4D1A2 (UniProtKB/Swiss-Prot),   A0A2X0TVW3 (UniProtKB/TrEMBL),   H7C0V3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001280000   ⟸   NM_001293071
- Peptide Label: isoform 5
- UniProtKB: H7C0V3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001280001   ⟸   NM_001293072
- Peptide Label: isoform 6
- UniProtKB: B7Z1W9 (UniProtKB/TrEMBL),   H7C0V3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_047275795   ⟸   XM_047419839
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047275796   ⟸   XM_047419840
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047275797   ⟸   XM_047419841
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047275798   ⟸   XM_047419842
- Peptide Label: isoform X1
RefSeq Acc Id: NP_001035025   ⟸   NM_001039936
- Peptide Label: isoform 1
- UniProtKB: B7Z701 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001280009   ⟸   NM_001293080
- Peptide Label: isoform 13
- UniProtKB: B7Z701 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001280008   ⟸   NM_001293079
- Peptide Label: isoform 12
- UniProtKB: B3VCF6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001280006   ⟸   NM_001293077
- Peptide Label: isoform 10
- UniProtKB: B3VCF5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001280005   ⟸   NM_001293076
- Peptide Label: isoform 9
- UniProtKB: P52757 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001280007   ⟸   NM_001293078
- Peptide Label: isoform 11
- UniProtKB: B3VCF4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001280002   ⟸   NM_001293073
- Peptide Label: isoform 7
- UniProtKB: B7Z701 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001280004   ⟸   NM_001293075
- Peptide Label: isoform 8
- UniProtKB: B7Z701 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001280010   ⟸   NM_001293081
- Peptide Label: isoform 14
- UniProtKB: B7Z215 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_054213144   ⟸   XM_054357169
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054213145   ⟸   XM_054357170
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054213147   ⟸   XM_054357172
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054213148   ⟸   XM_054357173
- Peptide Label: isoform X3
- UniProtKB: A0A994J7L4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213146   ⟸   XM_054357171
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054213149   ⟸   XM_054357174
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054213150   ⟸   XM_054357175
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054213151   ⟸   XM_054357176
- Peptide Label: isoform X1
Protein Domains
Phorbol-ester/DAG-type   Rho-GAP   SH2

Promoters
RGD ID:7210239
Promoter ID:EPDNEW_H10865
Type:initiation region
Name:CHN2_2
Description:chimerin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10860  EPDNEW_H10866  EPDNEW_H10867  EPDNEW_H10868  EPDNEW_H10869  EPDNEW_H10871  EPDNEW_H10870  EPDNEW_H10872  EPDNEW_H10873  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,146,591 - 29,146,651EPDNEW
RGD ID:7210241
Promoter ID:EPDNEW_H10866
Type:initiation region
Name:CHN2_8
Description:chimerin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10860  EPDNEW_H10865  EPDNEW_H10867  EPDNEW_H10868  EPDNEW_H10869  EPDNEW_H10871  EPDNEW_H10870  EPDNEW_H10872  EPDNEW_H10873  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,194,318 - 29,194,378EPDNEW
RGD ID:7210243
Promoter ID:EPDNEW_H10867
Type:initiation region
Name:CHN2_6
Description:chimerin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10860  EPDNEW_H10865  EPDNEW_H10866  EPDNEW_H10868  EPDNEW_H10869  EPDNEW_H10871  EPDNEW_H10870  EPDNEW_H10872  EPDNEW_H10873  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,194,503 - 29,194,563EPDNEW
RGD ID:7210245
Promoter ID:EPDNEW_H10868
Type:initiation region
Name:CHN2_4
Description:chimerin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10860  EPDNEW_H10865  EPDNEW_H10866  EPDNEW_H10867  EPDNEW_H10869  EPDNEW_H10871  EPDNEW_H10870  EPDNEW_H10872  EPDNEW_H10873  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,194,813 - 29,194,873EPDNEW
RGD ID:7210247
Promoter ID:EPDNEW_H10869
Type:initiation region
Name:CHN2_10
Description:chimerin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10860  EPDNEW_H10865  EPDNEW_H10866  EPDNEW_H10867  EPDNEW_H10868  EPDNEW_H10871  EPDNEW_H10870  EPDNEW_H10872  EPDNEW_H10873  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,367,891 - 29,367,951EPDNEW
RGD ID:7210251
Promoter ID:EPDNEW_H10870
Type:single initiation site
Name:CHN2_7
Description:chimerin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10860  EPDNEW_H10865  EPDNEW_H10866  EPDNEW_H10867  EPDNEW_H10868  EPDNEW_H10869  EPDNEW_H10871  EPDNEW_H10872  EPDNEW_H10873  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,376,394 - 29,376,454EPDNEW
RGD ID:7210249
Promoter ID:EPDNEW_H10871
Type:initiation region
Name:CHN2_5
Description:chimerin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10860  EPDNEW_H10865  EPDNEW_H10866  EPDNEW_H10867  EPDNEW_H10868  EPDNEW_H10869  EPDNEW_H10870  EPDNEW_H10872  EPDNEW_H10873  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,479,756 - 29,479,816EPDNEW
RGD ID:7210253
Promoter ID:EPDNEW_H10872
Type:initiation region
Name:CHN2_3
Description:chimerin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10860  EPDNEW_H10865  EPDNEW_H10866  EPDNEW_H10867  EPDNEW_H10868  EPDNEW_H10869  EPDNEW_H10871  EPDNEW_H10870  EPDNEW_H10873  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,480,053 - 29,480,113EPDNEW
RGD ID:7210257
Promoter ID:EPDNEW_H10873
Type:initiation region
Name:CHN2_9
Description:chimerin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10860  EPDNEW_H10865  EPDNEW_H10866  EPDNEW_H10867  EPDNEW_H10868  EPDNEW_H10869  EPDNEW_H10871  EPDNEW_H10870  EPDNEW_H10872  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38729,483,816 - 29,483,876EPDNEW

Additional Information

Database Acc Id Source(s)
COSMIC CHN2 COSMIC
Ensembl Genes ENSG00000106069 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000222792 ENTREZGENE
  ENST00000222792.11 UniProtKB/Swiss-Prot
  ENST00000409041 ENTREZGENE
  ENST00000409041.8 UniProtKB/TrEMBL
  ENST00000409350 ENTREZGENE
  ENST00000409350.6 UniProtKB/TrEMBL
  ENST00000412711 ENTREZGENE
  ENST00000412711.7 UniProtKB/Swiss-Prot
  ENST00000421775 ENTREZGENE
  ENST00000421775.6 UniProtKB/Swiss-Prot
  ENST00000424025 ENTREZGENE
  ENST00000424025.5 UniProtKB/TrEMBL
  ENST00000433720.1 UniProtKB/TrEMBL
  ENST00000439711 ENTREZGENE
  ENST00000439711.7 UniProtKB/TrEMBL
  ENST00000446446.6 UniProtKB/TrEMBL
  ENST00000467441 ENTREZGENE
  ENST00000467441.6 UniProtKB/Swiss-Prot
  ENST00000706158.1 UniProtKB/TrEMBL
  ENST00000706159.1 UniProtKB/TrEMBL
  ENST00000706160.1 UniProtKB/TrEMBL
  ENST00000706161 ENTREZGENE
  ENST00000706161.1 UniProtKB/TrEMBL
  ENST00000706162.1 UniProtKB/TrEMBL
  ENST00000706163.1 UniProtKB/TrEMBL
  ENST00000706164.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.60.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rho GTPase activation protein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000106069 GTEx
HGNC ID HGNC:1944 ENTREZGENE
Human Proteome Map CHN2 Human Proteome Map
InterPro C1-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Chimaerin_SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CHN1/CHN2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DAG/PE-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PE/DAG-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rho_GTPase_activation_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP_chimaerin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1124 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene CHN2 ENTREZGENE
OMIM 602857 OMIM
PANTHER BETA-CHIMAERIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CHIMERIN FAMILY MEMBER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam C1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26474 PharmGKB
PIRSF N-chimaerin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS DAGPEDOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2DOMAIN UniProtKB/TrEMBL
PROSITE RHOGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_DAG_PE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_DAG_PE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00109 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Cysteine-rich domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GTPase activation domain, GAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2X0TVW3 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J535_HUMAN UniProtKB/TrEMBL
  A0A994J5D1_HUMAN UniProtKB/TrEMBL
  A0A994J5D6_HUMAN UniProtKB/TrEMBL
  A0A994J5R0_HUMAN UniProtKB/TrEMBL
  A0A994J7L4 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J7Z1_HUMAN UniProtKB/TrEMBL
  A0A994J7Z5_HUMAN UniProtKB/TrEMBL
  A4D1A2 ENTREZGENE
  B3VCE9_HUMAN UniProtKB/TrEMBL
  B3VCF0_HUMAN UniProtKB/TrEMBL
  B3VCF1 ENTREZGENE
  B3VCF2 ENTREZGENE
  B3VCF3 ENTREZGENE
  B3VCF4 ENTREZGENE, UniProtKB/TrEMBL
  B3VCF5 ENTREZGENE, UniProtKB/TrEMBL
  B3VCF6 ENTREZGENE, UniProtKB/TrEMBL
  B3VCF7 ENTREZGENE
  B3VCF8_HUMAN UniProtKB/TrEMBL
  B3VCF9_HUMAN UniProtKB/TrEMBL
  B3VCG0_HUMAN UniProtKB/TrEMBL
  B3VCG1 ENTREZGENE
  B3VCG2_HUMAN UniProtKB/TrEMBL
  B3VCG3_HUMAN UniProtKB/TrEMBL
  B3VCG4_HUMAN UniProtKB/TrEMBL
  B3VCG5_HUMAN UniProtKB/TrEMBL
  B7Z1V0 ENTREZGENE, UniProtKB/TrEMBL
  B7Z1W9 ENTREZGENE, UniProtKB/TrEMBL
  B7Z215 ENTREZGENE, UniProtKB/TrEMBL
  B7Z701 ENTREZGENE, UniProtKB/TrEMBL
  B8ZZU1 ENTREZGENE
  C9J7B0 ENTREZGENE
  CHIO_HUMAN UniProtKB/Swiss-Prot
  E9PGE0 ENTREZGENE
  F8QPL9 ENTREZGENE
  H7C0V3 ENTREZGENE, UniProtKB/TrEMBL
  H7C138_HUMAN UniProtKB/TrEMBL
  P52757 ENTREZGENE
  Q2M203 ENTREZGENE
  Q75MM2 ENTREZGENE
  Q75MY2_HUMAN UniProtKB/TrEMBL
UniProt Secondary A4D1A2 UniProtKB/Swiss-Prot
  B3VCF1 UniProtKB/Swiss-Prot
  B3VCF2 UniProtKB/Swiss-Prot
  B3VCF3 UniProtKB/Swiss-Prot
  B3VCF7 UniProtKB/Swiss-Prot
  B3VCG1 UniProtKB/Swiss-Prot
  B8ZZU1 UniProtKB/TrEMBL
  C9J7B0 UniProtKB/Swiss-Prot
  E9PGE0 UniProtKB/Swiss-Prot
  F5GWP4 UniProtKB/TrEMBL
  F5H003 UniProtKB/TrEMBL
  F8QPL9 UniProtKB/Swiss-Prot
  Q2M203 UniProtKB/Swiss-Prot
  Q75MM2 UniProtKB/Swiss-Prot