ADRA2C (adrenoceptor alpha 2C) - Rat Genome Database

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Gene: ADRA2C (adrenoceptor alpha 2C) Homo sapiens
Analyze
Symbol: ADRA2C
Name: adrenoceptor alpha 2C
RGD ID: 737142
HGNC Page HGNC:283
Description: Enables several functions, including alpha-2A adrenergic receptor binding activity; alpha2-adrenergic receptor activity; and protein dimerization activity. Involved in several processes, including activation of protein kinase B activity; adrenergic receptor signaling pathway; and positive regulation of MAPK cascade. Located in cytoplasm and plasma membrane. Implicated in congestive heart failure.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADRA2L2; ADRA2RL2; ADRARL2; adrenergic receptor, alpha 2c; adrenergic, alpha-2C-, receptor; alpha-2 adrenergic receptor subtype C4; alpha-2C adrenergic receptor; alpha-2C adrenoceptor; alpha-2C adrenoreceptor; alpha-2C-adrenergic receptor; alpha-2CAR; alpha2-AR-C4; ALPHA2CAR
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
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
GRCh3843,766,385 - 3,768,526 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl43,766,348 - 3,768,526 (+)EnsemblGRCh38hg38GRCh38
GRCh3743,768,112 - 3,770,253 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3643,738,094 - 3,740,051 (+)NCBINCBI36Build 36hg18NCBI36
Build 3443,804,398 - 3,807,217NCBI
Celera43,671,112 - 3,673,097 (+)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef43,705,412 - 3,707,390 (+)NCBIHuRef
CHM1_143,766,238 - 3,768,183 (+)NCBICHM1_1
T2T-CHM13v2.043,765,283 - 3,767,445 (+)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
(D-Ala(2)-mephe(4)-gly-ol(5))enkephalin  (ISO)
(R)-adrenaline  (EXP)
(R)-noradrenaline  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-methoxyidazoxan  (EXP,ISO)
2-phenylethylamine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
acrylamide  (ISO)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
Bardoxolone methyl  (EXP)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
bromobenzene  (ISO)
C60 fullerene  (ISO)
calcium atom  (EXP)
calcium(0)  (EXP)
chlorpyrifos  (ISO)
clofibrate  (ISO)
clonidine  (EXP,ISO)
clonidine (amino form)  (EXP,ISO)
clonidine (imino form)  (EXP,ISO)
colforsin daropate hydrochloride  (EXP)
copper(II) sulfate  (EXP)
dexamethasone  (EXP)
diallyl trisulfide  (ISO)
dichlorine  (ISO)
diethylstilbestrol  (ISO)
dopamine  (ISO)
elemental selenium  (EXP)
ethanol  (ISO)
fipronil  (EXP)
flavonoids  (ISO)
genistein  (EXP,ISO)
indometacin  (EXP)
lipopolysaccharide  (EXP)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
methoxychlor  (ISO)
metoprolol  (EXP)
N,N-diethyl-m-toluamide  (EXP)
naphthalene  (ISO)
nickel atom  (ISO)
Nonylphenol  (ISO)
okadaic acid  (EXP)
oxcarbazepine  (ISO)
oxymetazoline  (EXP)
ozone  (ISO)
perfluorooctanoic acid  (ISO)
phenylpropanolamine  (EXP)
progesterone  (EXP)
quercitrin  (EXP)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
selenium atom  (EXP)
sodium arsenite  (EXP)
sulindac sulfide  (EXP)
sunitinib  (EXP)
synephrine  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vitamin E  (EXP)
vorinostat  (EXP)
Xylometazoline  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Decreased spinal alpha2a- and alpha2c-adrenergic receptor subtype mRNA in a rat model of neuropathic pain. Leiphart JW, etal., Neurosci Lett. 2003 Sep 25;349(1):5-8.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Activation of spinal alpha-2 adrenoceptors, but not mu-opioid receptors, reduces the intrathecal N-methyl-D-aspartate-induced increase in spinal NR1 subunit phosphorylation and nociceptive behaviors in the rat. Roh DH, etal., Anesth Analg. 2010 Feb 1;110(2):622-9. Epub 2009 Dec 10.
7. Synergistic polymorphisms of beta1- and alpha2C-adrenergic receptors and the risk of congestive heart failure. Small KM, etal., N Engl J Med 2002 Oct 10;347(15):1135-42.
Additional References at PubMed
PMID:1349607   PMID:1849485   PMID:2842764   PMID:7688069   PMID:8188260   PMID:9235896   PMID:9371698   PMID:10196213   PMID:10224112   PMID:10647009   PMID:10801795   PMID:10945659  
PMID:10948191   PMID:11140838   PMID:11154706   PMID:11313909   PMID:11317218   PMID:12210281   PMID:12477932   PMID:12946937   PMID:15319474   PMID:15345481   PMID:15542284   PMID:15592690  
PMID:15683753   PMID:15719258   PMID:15861038   PMID:15920038   PMID:15946904   PMID:16187973   PMID:16299019   PMID:16407897   PMID:16464220   PMID:16531006   PMID:16569551   PMID:16605244  
PMID:16636200   PMID:17075692   PMID:17192578   PMID:17215105   PMID:17223428   PMID:17351367   PMID:17383306   PMID:17496726   PMID:17644575   PMID:17655760   PMID:17971028   PMID:18071056  
PMID:18075481   PMID:18240029   PMID:18308161   PMID:18320080   PMID:18435421   PMID:18487435   PMID:18511740   PMID:18577758   PMID:18698227   PMID:18702968   PMID:18776959   PMID:18794726  
PMID:18835330   PMID:18947427   PMID:19167638   PMID:19309415   PMID:19352218   PMID:19423370   PMID:19444546   PMID:19477270   PMID:19477404   PMID:19742303   PMID:19874574   PMID:19880803  
PMID:20128806   PMID:20398908   PMID:20613626   PMID:20692245   PMID:20705341   PMID:21041608   PMID:21298476   PMID:21873635   PMID:22040172   PMID:22503931   PMID:22560155   PMID:23275278  
PMID:23868076   PMID:24643471   PMID:24676565   PMID:25110951   PMID:25406899   PMID:26058836   PMID:26427149   PMID:26739946   PMID:27007576   PMID:29117863   PMID:29552726   PMID:30273604  
PMID:31218733   PMID:32296183   PMID:34237656   PMID:35258481   PMID:35906200   PMID:36724073  


Genomics

Comparative Map Data
ADRA2C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3843,766,385 - 3,768,526 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl43,766,348 - 3,768,526 (+)EnsemblGRCh38hg38GRCh38
GRCh3743,768,112 - 3,770,253 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3643,738,094 - 3,740,051 (+)NCBINCBI36Build 36hg18NCBI36
Build 3443,804,398 - 3,807,217NCBI
Celera43,671,112 - 3,673,097 (+)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef43,705,412 - 3,707,390 (+)NCBIHuRef
CHM1_143,766,238 - 3,768,183 (+)NCBICHM1_1
T2T-CHM13v2.043,765,283 - 3,767,445 (+)NCBIT2T-CHM13v2.0
Adra2c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39535,435,910 - 35,439,107 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl535,435,663 - 35,439,107 (+)EnsemblGRCm39 Ensembl
GRCm38535,278,566 - 35,281,763 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl535,278,319 - 35,281,763 (+)EnsemblGRCm38mm10GRCm38
MGSCv37535,621,215 - 35,624,412 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36535,595,575 - 35,598,742 (+)NCBIMGSCv36mm8
Celera532,753,998 - 32,757,254 (+)NCBICelera
Cytogenetic Map5B2NCBI
cM Map518.09NCBI
Adra2c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81479,695,514 - 79,697,476 (-)NCBIGRCr8
mRatBN7.21475,470,884 - 75,472,846 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1475,471,143 - 75,472,846 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1479,924,216 - 79,926,175 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01481,165,071 - 81,167,030 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01477,610,079 - 77,612,038 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01480,730,307 - 80,732,010 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1480,730,307 - 80,732,010 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01481,422,130 - 81,423,833 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41481,107,907 - 81,109,610 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11481,110,297 - 81,112,001 (-)NCBI
Celera1474,399,360 - 74,401,063 (-)NCBICelera
Cytogenetic Map14q21NCBI
ADRA2C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v234,099,781 - 4,102,012 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan144,033,469 - 4,035,654 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v043,904,346 - 3,906,577 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.143,894,575 - 3,897,018 (+)NCBIpanpan1.1PanPan1.1panPan2
ADRA2C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1360,608,632 - 60,648,112 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl360,646,132 - 60,647,722 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha363,296,546 - 63,298,547 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0361,121,798 - 61,123,799 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl361,122,360 - 61,123,799 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1360,615,963 - 60,617,962 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0360,821,563 - 60,823,566 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0361,177,369 - 61,179,380 (-)NCBIUU_Cfam_GSD_1.0
ADRA2C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl82,320,226 - 2,321,608 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.182,320,125 - 2,322,162 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.282,048,614 - 2,050,639 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ADRA2C
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12744,950,928 - 44,953,245 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2744,951,457 - 44,952,827 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660511,297,830 - 1,299,978 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Adra2c
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475524,300,347 - 24,301,693 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475524,299,985 - 24,301,824 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ADRA2C
53 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000683.4(ADRA2C):c.971_982del (p.Gly324_Ala327del) deletion not provided [RCV004794343] Chr4:3767569..3767580 [GRCh38]
Chr4:3769296..3769307 [GRCh37]
Chr4:4p16.3		 benign|drug response|not provided
GRCh38/hg38 4p16.3(chr4:51519-3775116)x3 copy number gain See cases [RCV000050948] Chr4:51519..3775116 [GRCh38]
Chr4:51413..3776843 [GRCh37]
Chr4:41413..3746641 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 copy number gain See cases [RCV000050906] Chr4:51519..8222798 [GRCh38]
Chr4:51413..8224525 [GRCh37]
Chr4:41413..8275425 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:56878-3870653)x1 copy number loss See cases [RCV000051613] Chr4:56878..3870653 [GRCh38]
Chr4:56772..3872380 [GRCh37]
Chr4:46772..3842178 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 copy number loss See cases [RCV000051641] Chr4:72555..7829425 [GRCh38]
Chr4:72447..7831152 [GRCh37]
Chr4:62447..7882052 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1676799-5212384)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|See cases [RCV000051807] Chr4:1676799..5212384 [GRCh38]
Chr4:1678526..5214111 [GRCh37]
Chr4:1648324..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3 copy number gain See cases [RCV000051754] Chr4:72555..5607083 [GRCh38]
Chr4:72447..5608810 [GRCh37]
Chr4:62447..5659711 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|See cases [RCV000051758] Chr4:2231690..11197847 [GRCh38]
Chr4:2233417..11199471 [GRCh37]
Chr4:2203215..10808569 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1 copy number loss See cases [RCV000051671] Chr4:72555..5034991 [GRCh38]
Chr4:72447..5036718 [GRCh37]
Chr4:62447..5087619 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3 copy number gain See cases [RCV000051756] Chr4:85149..4596207 [GRCh38]
Chr4:85040..4597934 [GRCh37]
Chr4:75040..4648835 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x3 copy number gain See cases [RCV000051675] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|See cases [RCV000051676] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1 copy number loss See cases [RCV000051677] Chr4:72555..5212384 [GRCh38]
Chr4:72447..5214111 [GRCh37]
Chr4:62447..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 copy number loss See cases [RCV000051678] Chr4:85149..7063699 [GRCh38]
Chr4:85040..7065426 [GRCh37]
Chr4:75040..7116327 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3785385)x1 copy number loss See cases [RCV000051644] Chr4:72555..3785385 [GRCh38]
Chr4:72447..3787112 [GRCh37]
Chr4:62447..3756910 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 copy number loss See cases [RCV000051680] Chr4:85149..7843616 [GRCh38]
Chr4:85040..7845343 [GRCh37]
Chr4:75040..7896243 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-4405782)x1 copy number loss See cases [RCV000051681] Chr4:85149..4405782 [GRCh38]
Chr4:85040..4407509 [GRCh37]
Chr4:75040..4458410 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1598653-4722090)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|See cases [RCV000053396] Chr4:1598653..4722090 [GRCh38]
Chr4:1600380..4723817 [GRCh37]
Chr4:1570340..4774718 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1 copy number loss See cases [RCV000133846] Chr4:72555..5344810 [GRCh38]
Chr4:72447..5346537 [GRCh37]
Chr4:62447..5397438 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3(chr4:37335-3775112)x1 copy number loss See cases [RCV000134785] Chr4:37335..3775112 [GRCh38]
Chr4:37336..3776839 [GRCh37]
Chr4:27336..3746637 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 copy number loss See cases [RCV000135436] Chr4:135972..9369341 [GRCh38]
Chr4:129753..9371067 [GRCh37]
Chr4:119753..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1 copy number loss See cases [RCV000135584] Chr4:72555..4888108 [GRCh38]
Chr4:72447..4889835 [GRCh37]
Chr4:62447..4940736 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1 copy number loss See cases [RCV000136572] Chr4:72555..6243425 [GRCh38]
Chr4:72447..6245152 [GRCh37]
Chr4:62447..6296053 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 copy number loss See cases [RCV000135992] Chr4:37335..9369258 [GRCh38]
Chr4:37336..9370984 [GRCh37]
Chr4:27336..8980082 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-4358718)x1 copy number loss See cases [RCV000136844] Chr4:72555..4358718 [GRCh38]
Chr4:72447..4360445 [GRCh37]
Chr4:62447..4411346 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p16.3(chr4:2019774-3881330)x3 copy number gain See cases [RCV000138129] Chr4:2019774..3881330 [GRCh38]
Chr4:2021501..3883057 [GRCh37]
Chr4:1991299..3852855 [NCBI36]
Chr4:4p16.3		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1 copy number loss See cases [RCV000138227] Chr4:36424..9369341 [GRCh38]
Chr4:36424..9371067 [GRCh37]
Chr4:26424..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-4097002)x3 copy number gain See cases [RCV000139432] Chr4:36424..4097002 [GRCh38]
Chr4:36424..4098729 [GRCh37]
Chr4:26424..4149630 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3974044)x1 copy number loss See cases [RCV000139441] Chr4:36424..3974044 [GRCh38]
Chr4:36424..3975771 [GRCh37]
Chr4:26424..4026672 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1 copy number loss See cases [RCV000141940] Chr4:1964539..5912172 [GRCh38]
Chr4:1966266..5913899 [GRCh37]
Chr4:1936064..5964800 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1 copy number loss See cases [RCV000142951] Chr4:36424..7359817 [GRCh38]
Chr4:36424..7361544 [GRCh37]
Chr4:26424..7412445 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely benign
GRCh38/hg38 4p16.3(chr4:3407550-3942201)x1 copy number loss See cases [RCV000143112] Chr4:3407550..3942201 [GRCh38]
Chr4:3409277..3943928 [GRCh37]
Chr4:3379075..3994858 [NCBI36]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 copy number loss See cases [RCV000143377] Chr4:68453..8730129 [GRCh38]
Chr4:68345..8731855 [GRCh37]
Chr4:58345..8782755 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3881330)x1 copy number loss See cases [RCV000143247] Chr4:36424..3881330 [GRCh38]
Chr4:36424..3883057 [GRCh37]
Chr4:26424..3852855 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1 copy number loss See cases [RCV000143547] Chr4:68453..6055026 [GRCh38]
Chr4:68345..6056753 [GRCh37]
Chr4:58345..6107654 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) copy number loss 4p partial monosomy syndrome [RCV000767672] Chr4:75742..8672411 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1 copy number loss See cases [RCV000239427] Chr4:49450..8872474 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3 copy number gain See cases [RCV000240481] Chr4:127233..8667610 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000447633] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 copy number loss See cases [RCV000512104] Chr4:68345..10336032 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000510565] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 likely pathogenic
GRCh37/hg19 4p16.3(chr4:68345-4044985)x1 copy number loss See cases [RCV000510596] Chr4:68345..4044985 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5319773)x1 copy number loss See cases [RCV000511691] Chr4:68345..5319773 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
NM_000683.4(ADRA2C):c.100G>T (p.Ala34Ser) single nucleotide variant not specified [RCV004291861] Chr4:3766706 [GRCh38]
Chr4:3768433 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3891984)x1 copy number loss See cases [RCV000512438] Chr4:68345..3891984 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:2364201-5447465)x1 copy number loss not provided [RCV000682370] Chr4:2364201..5447465 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_000683.4(ADRA2C):c.778A>G (p.Thr260Ala) single nucleotide variant not specified [RCV004301939] Chr4:3767384 [GRCh38]
Chr4:3769111 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1 copy number loss not provided [RCV000845896] Chr4:3374195..13468480 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_000683.4(ADRA2C):c.972G>A (p.Gly324=) single nucleotide variant not provided [RCV000917136] Chr4:3767578 [GRCh38]
Chr4:3769305 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3(chr4:68345-4051616)x3 copy number gain not provided [RCV000847002] Chr4:68345..4051616 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000683.4(ADRA2C):c.933G>C (p.Ala311=) single nucleotide variant not provided [RCV000954622] Chr4:3767539 [GRCh38]
Chr4:3769266 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1 copy number loss not provided [RCV002473938] Chr4:1..12785001 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1 copy number loss not provided [RCV002473869] Chr4:68346..12369983 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1 copy number loss not provided [RCV001005513] Chr4:68345..6984507 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1 copy number loss not provided [RCV001005511] Chr4:68345..9768141 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 copy number loss not provided [RCV001005514] Chr4:68345..10312798 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1 copy number loss not provided [RCV001005512] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:2909440-6871516) copy number loss microdeletion 4p16.3p16.1 [RCV001255691] Chr4:2909440..6871516 [GRCh37]
Chr4:4p16.3-16.1		 likely pathogenic
GRCh37/hg19 4p16.3(chr4:1941633-3879802)x1 copy number loss not provided [RCV001258633] Chr4:1941633..3879802 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1 copy number loss not provided [RCV001258643] Chr4:68345..5046326 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1 copy number loss not provided [RCV001258644] Chr4:68345..5831521 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:388344-3872380) copy number loss Fetal growth restriction [RCV001352672] Chr4:388344..3872380 [GRCh37]
Chr4:4p16.3		 pathogenic
NC_000004.11:g.(?_2200251)_(5710240_?)del deletion Ellis-van Creveld syndrome [RCV001386270] Chr4:2200251..5710240 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 copy number loss not provided [RCV001829146] Chr4:68345..20587167 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
Single allele deletion not provided [RCV002227826] Chr4:3101924..7588850 [GRCh38]
Chr4:4p16.3-16.1		 likely pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 copy number loss See cases [RCV002286359] Chr4:68345..20964575 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1 copy number loss See cases [RCV002286339] Chr4:68345..5579467 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_000683.4(ADRA2C):c.787G>A (p.Gly263Arg) single nucleotide variant not specified [RCV004092713] Chr4:3767393 [GRCh38]
Chr4:3769120 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.820G>C (p.Gly274Arg) single nucleotide variant not specified [RCV004149954] Chr4:3767426 [GRCh38]
Chr4:3769153 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.995C>T (p.Ala332Val) single nucleotide variant not specified [RCV004233801] Chr4:3767601 [GRCh38]
Chr4:3769328 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.104C>T (p.Ser35Leu) single nucleotide variant not specified [RCV004114127] Chr4:3766710 [GRCh38]
Chr4:3768437 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.838C>T (p.Pro280Ser) single nucleotide variant not specified [RCV004224507] Chr4:3767444 [GRCh38]
Chr4:3769171 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.858C>G (p.Asp286Glu) single nucleotide variant not specified [RCV004079361] Chr4:3767464 [GRCh38]
Chr4:3769191 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.956A>G (p.Asp319Gly) single nucleotide variant not specified [RCV004231970] Chr4:3767562 [GRCh38]
Chr4:3769289 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.761A>T (p.Asp254Val) single nucleotide variant not specified [RCV004240935] Chr4:3767367 [GRCh38]
Chr4:3769094 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.994G>A (p.Ala332Thr) single nucleotide variant not specified [RCV004112634] Chr4:3767600 [GRCh38]
Chr4:3769327 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.119G>A (p.Gly40Glu) single nucleotide variant not specified [RCV004232651] Chr4:3766725 [GRCh38]
Chr4:3768452 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.1174G>A (p.Val392Met) single nucleotide variant not specified [RCV004191221] Chr4:3767780 [GRCh38]
Chr4:3769507 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.877G>C (p.Glu293Gln) single nucleotide variant not specified [RCV004080154] Chr4:3767483 [GRCh38]
Chr4:3769210 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.707T>C (p.Val236Ala) single nucleotide variant not specified [RCV004166959] Chr4:3767313 [GRCh38]
Chr4:3769040 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.941G>C (p.Gly314Ala) single nucleotide variant not specified [RCV004083790] Chr4:3767547 [GRCh38]
Chr4:3769274 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.11C>A (p.Pro4Gln) single nucleotide variant not specified [RCV004268732] Chr4:3766617 [GRCh38]
Chr4:3768344 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.1025G>T (p.Gly342Val) single nucleotide variant not specified [RCV004258712] Chr4:3767631 [GRCh38]
Chr4:3769358 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.134A>G (p.Gln45Arg) single nucleotide variant not specified [RCV004255057] Chr4:3766740 [GRCh38]
Chr4:3768467 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.937G>A (p.Gly313Arg) single nucleotide variant not specified [RCV004258190] Chr4:3767543 [GRCh38]
Chr4:3769270 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) copy number gain 4p16.3 microduplication syndrome [RCV003319592] Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 copy number gain Neurodevelopmental disorder [RCV003327612] Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1 copy number loss not provided [RCV003334269] Chr4:85622..16900108 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
NM_000683.4(ADRA2C):c.593C>A (p.Ala198Asp) single nucleotide variant not specified [RCV004339809] Chr4:3767199 [GRCh38]
Chr4:3768926 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.100G>A (p.Ala34Thr) single nucleotide variant not specified [RCV004363710] Chr4:3766706 [GRCh38]
Chr4:3768433 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3 copy number gain not provided [RCV003484164] Chr4:68346..7171784 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_000683.4(ADRA2C):c.951T>C (p.Gly317=) single nucleotide variant not provided [RCV003439223] Chr4:3767557 [GRCh38]
Chr4:3769284 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1 copy number loss not specified [RCV003986510] Chr4:68345..14083766 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1 copy number loss not specified [RCV003986488] Chr4:68345..21143236 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1 copy number loss not specified [RCV003986500] Chr4:68345..7923907 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1 copy number loss not specified [RCV003986512] Chr4:68345..19103550 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1 copy number loss not specified [RCV003986508] Chr4:68345..4611819 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1 copy number loss not provided [RCV003885506] Chr4:85622..13316942 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_000683.4(ADRA2C):c.996G>A (p.Ala332=) single nucleotide variant ADRA2C-related disorder [RCV003984469] Chr4:3767602 [GRCh38]
Chr4:3769329 [GRCh37]
Chr4:4p16.3		 benign
NM_000683.4(ADRA2C):c.1015C>T (p.Pro339Ser) single nucleotide variant ADRA2C-related disorder [RCV003954758] Chr4:3767621 [GRCh38]
Chr4:3769348 [GRCh37]
Chr4:4p16.3		 benign
NM_000683.4(ADRA2C):c.312C>A (p.Val104=) single nucleotide variant ADRA2C-related disorder [RCV003927137] Chr4:3766918 [GRCh38]
Chr4:3768645 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000683.4(ADRA2C):c.297G>C (p.Leu99=) single nucleotide variant ADRA2C-related disorder [RCV003981443] Chr4:3766903 [GRCh38]
Chr4:3768630 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000683.4(ADRA2C):c.1167C>T (p.Gly389=) single nucleotide variant ADRA2C-related disorder [RCV003982055] Chr4:3767773 [GRCh38]
Chr4:3769500 [GRCh37]
Chr4:4p16.3		 benign
NM_000683.4(ADRA2C):c.942_950del (p.313GGA[1]) deletion ADRA2C-related disorder [RCV003943833] Chr4:3767546..3767554 [GRCh38]
Chr4:3769273..3769281 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000683.4(ADRA2C):c.479A>C (p.Asn160Thr) single nucleotide variant not specified [RCV004383277] Chr4:3767085 [GRCh38]
Chr4:3768812 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.803C>T (p.Ala268Val) single nucleotide variant not specified [RCV004383296] Chr4:3767409 [GRCh38]
Chr4:3769136 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.731T>G (p.Leu244Arg) single nucleotide variant not specified [RCV004383285] Chr4:3767337 [GRCh38]
Chr4:3769064 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.874G>C (p.Ala292Pro) single nucleotide variant not specified [RCV004383304] Chr4:3767480 [GRCh38]
Chr4:3769207 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.908G>A (p.Arg303Gln) single nucleotide variant not specified [RCV004383309] Chr4:3767514 [GRCh38]
Chr4:3769241 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_2357152)_(15176083_?)del deletion not provided [RCV004580846] Chr4:2357152..15176083 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_000683.4(ADRA2C):c.47C>T (p.Ala16Val) single nucleotide variant not specified [RCV004619989] Chr4:3766653 [GRCh38]
Chr4:3768380 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.200T>C (p.Val67Ala) single nucleotide variant not specified [RCV004619992] Chr4:3766806 [GRCh38]
Chr4:3768533 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.122C>T (p.Pro41Leu) single nucleotide variant not specified [RCV004619979] Chr4:3766728 [GRCh38]
Chr4:3768455 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.1108C>T (p.Arg370Cys) single nucleotide variant not specified [RCV004619983] Chr4:3767714 [GRCh38]
Chr4:3769441 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.1024G>A (p.Gly342Ser) single nucleotide variant not specified [RCV004619976] Chr4:3767630 [GRCh38]
Chr4:3769357 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.854C>T (p.Pro285Leu) single nucleotide variant not specified [RCV004619973] Chr4:3767460 [GRCh38]
Chr4:3769187 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.32(chr4:68346-16744084)x3 copy number gain not provided [RCV004819301] Chr4:68346..16744084 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
NM_000683.4(ADRA2C):c.167C>T (p.Ala56Val) single nucleotide variant not specified [RCV004906369] Chr4:3766773 [GRCh38]
Chr4:3768500 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.1177C>A (p.Leu393Ile) single nucleotide variant not specified [RCV004906379] Chr4:3767783 [GRCh38]
Chr4:3769510 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.956A>C (p.Asp319Ala) single nucleotide variant not specified [RCV004906381] Chr4:3767562 [GRCh38]
Chr4:3769289 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.1249C>A (p.Pro417Thr) single nucleotide variant not specified [RCV004906382] Chr4:3767855 [GRCh38]
Chr4:3769582 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.208G>T (p.Val70Leu) single nucleotide variant not specified [RCV004906358] Chr4:3766814 [GRCh38]
Chr4:3768541 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.775A>G (p.Thr259Ala) single nucleotide variant not specified [RCV004906384] Chr4:3767381 [GRCh38]
Chr4:3769108 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.585C>G (p.Asp195Glu) single nucleotide variant not specified [RCV004906385] Chr4:3767191 [GRCh38]
Chr4:3768918 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.1112A>G (p.Lys371Arg) single nucleotide variant not specified [RCV004906386] Chr4:3767718 [GRCh38]
Chr4:3769445 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.1098C>A (p.Ser366Arg) single nucleotide variant not specified [RCV004906387] Chr4:3767704 [GRCh38]
Chr4:3769431 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000683.4(ADRA2C):c.1007C>A (p.Ser336Tyr) single nucleotide variant not specified [RCV004906388] Chr4:3767613 [GRCh38]
Chr4:3769340 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.2(chr4:80000-5520000)x1 copy number loss See cases [RCV005244179] Chr4:80000..5520000 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:681
Count of miRNA genes:375
Interacting mature miRNAs:428
Transcripts:ENST00000330055, ENST00000509482
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.

Markers in Region
D4S3282  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3743,770,030 - 3,770,164UniSTSGRCh37
Build 3643,739,828 - 3,739,962RGDNCBI36
Cytogenetic Map4p16UniSTS
HuRef43,707,167 - 3,707,301UniSTS
TNG Radiation Hybrid Map42256.0UniSTS
Stanford-G3 RH Map4318.0UniSTS
NCBI RH Map466.7UniSTS
GeneMap99-G3 RH Map4302.0UniSTS
STS-J03853  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3743,769,540 - 3,769,660UniSTSGRCh37
Build 3643,739,338 - 3,739,458RGDNCBI36
Cytogenetic Map4p16UniSTS
HuRef43,706,656 - 3,706,776UniSTS
GeneMap99-GB4 RH Map431.36UniSTS
NCBI RH Map468.1UniSTS
UniSTS:483109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3743,768,300 - 3,769,815UniSTSGRCh37
HuRef43,705,416 - 3,706,952UniSTS
HuRef43,705,416 - 3,706,931UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2424 2788 2234 4937 1705 2304 5 613 1250 453 2258 6599 5787 42 3706 1 844 1733 1581 174 1

Sequence


Ensembl Acc Id: ENST00000330055   ⟹   ENSP00000386069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl43,766,385 - 3,768,526 (+)Ensembl
Ensembl Acc Id: ENST00000509482   ⟹   ENSP00000426268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl43,766,348 - 3,768,491 (+)Ensembl
RefSeq Acc Id: NM_000683   ⟹   NP_000674
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3843,766,385 - 3,768,526 (+)NCBI
GRCh3743,768,296 - 3,770,253 (+)ENTREZGENE
Build 3643,738,094 - 3,740,051 (+)NCBI Archive
HuRef43,705,412 - 3,707,390 (+)ENTREZGENE
CHM1_143,766,238 - 3,768,183 (+)NCBI
T2T-CHM13v2.043,765,283 - 3,767,445 (+)NCBI
Sequence:
RefSeq Acc Id: NP_000674   ⟸   NM_000683
- UniProtKB: P35369 (UniProtKB/Swiss-Prot),   Q9HB49 (UniProtKB/Swiss-Prot),   P18825 (UniProtKB/Swiss-Prot),   Q4W594 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000426268   ⟸   ENST00000509482
Ensembl Acc Id: ENSP00000386069   ⟸   ENST00000330055
Protein Domains
G-protein coupled receptors family 1 profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P18825-F1-model_v2 AlphaFold P18825 1-462 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:283 AgrOrtholog
COSMIC ADRA2C COSMIC
Ensembl Genes ENSG00000184160 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000330055 ENTREZGENE
  ENST00000330055.7 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot
GTEx ENSG00000184160 GTEx
HGNC ID HGNC:283 ENTREZGENE
Human Proteome Map ADRA2C Human Proteome Map
InterPro ADR_fam UniProtKB/Swiss-Prot
  ADRA2C_rcpt UniProtKB/Swiss-Prot
  GPCR_Rhodpsn UniProtKB/Swiss-Prot
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot
KEGG Report hsa:152 UniProtKB/Swiss-Prot
NCBI Gene 152 ENTREZGENE
OMIM 104250 OMIM
PANTHER ADRENERGIC RECEPTOR-RELATED G-PROTEIN COUPLED RECEPTOR UniProtKB/Swiss-Prot
  PTHR24248:SF25 UniProtKB/Swiss-Prot
Pfam 7tm_1 UniProtKB/Swiss-Prot
PharmGKB ADRA2C RGD, PharmGKB
PRINTS ADRENERGICR UniProtKB/Swiss-Prot
  ADRENRGCA2CR UniProtKB/Swiss-Prot
  GPCRRHODOPSN UniProtKB/Swiss-Prot
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot
SMART 7TM_GPCR_Srsx UniProtKB/Swiss-Prot
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot
UniProt ADA2C_HUMAN UniProtKB/Swiss-Prot
  D6RGL0_HUMAN UniProtKB/TrEMBL
  P18825 ENTREZGENE
  P35369 ENTREZGENE
  Q4W594 ENTREZGENE, UniProtKB/TrEMBL
  Q9HB49 ENTREZGENE
UniProt Secondary P35369 UniProtKB/Swiss-Prot
  Q9HB49 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-05-15 ADRA2C  adrenoceptor alpha 2C  ADRA2C  adrenergic, alpha-2C-, receptor  Symbol and/or name change 5135510 APPROVED