AP2M1 (adaptor related protein complex 2 subunit mu 1) - Rat Genome Database

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Gene: AP2M1 (adaptor related protein complex 2 subunit mu 1) Homo sapiens
Analyze
Symbol: AP2M1
Name: adaptor related protein complex 2 subunit mu 1
RGD ID: 1350921
HGNC Page HGNC
Description: Enables signal sequence binding activity and transmembrane transporter binding activity. Involved in several processes, including negative regulation of protein localization to plasma membrane; receptor-mediated endocytosis; and regulation of vesicle size. Located in clathrin-coated pit. Part of AP-2 adaptor complex. Implicated in autosomal dominant non-syndromic intellectual disability.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: adapter-related protein complex 2 mu subunit; adapter-related protein complex 2 subunit mu; adaptin-mu2; adaptor protein complex AP-2 subunit mu; adaptor related protein complex 2 mu 1 subunit; adaptor related protein complex 2, mu 1 subunit; adaptor-related protein complex 2 subunit mu; adaptor-related protein complex 2, mu 1 subunit; AP-2 complex subunit mu; AP-2 mu 2 chain; AP-2 mu chain; AP50; CLAPM1; clathrin adaptor complex AP2, mu subunit; clathrin assembly protein complex 2 medium chain; clathrin assembly protein complex 2 mu medium chain; clathrin coat adaptor protein AP50; clathrin coat assembly protein AP50; clathrin coat-associated protein AP50; clathrin-associated/assembly/adaptor protein, medium 1; HA2 50 kDA subunit; MRD60; mu2; plasma membrane adaptor AP-2 50 kDa protein; plasma membrane adaptor AP-2 50kDA protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3184,174,689 - 184,184,214 (+)EnsemblGRCh38hg38GRCh38
GRCh383184,174,855 - 184,184,091 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373183,892,643 - 183,901,879 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363185,375,328 - 185,384,573 (+)NCBINCBI36hg18NCBI36
Build 343185,375,357 - 185,384,580NCBI
Celera3182,334,345 - 182,343,591 (+)NCBI
Cytogenetic Map3q27.1NCBI
HuRef3181,299,526 - 181,308,773 (+)NCBIHuRef
CHM1_13183,857,039 - 183,866,284 (+)NCBICHM1_1
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
Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebral white matter morphology  (IAGP)
Abnormal emotion/affect behavior  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal pyramidal sign  (IAGP)
Absence seizure with eyelid myoclonia  (IAGP)
Anteverted nares  (IAGP)
Ataxia  (IAGP)
Atonic seizure  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical absence seizure  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bilateral tonic-clonic seizure with generalized onset  (IAGP)
Brain imaging abnormality  (IAGP)
Broad philtrum  (IAGP)
Chorea  (IAGP)
Delayed speech and language development  (IAGP)
EEG with focal spike waves  (IAGP)
EEG with generalized slow activity  (IAGP)
EEG with irregular generalized spike and wave complexes  (IAGP)
EEG with polyspike wave complexes  (IAGP)
Epileptic encephalopathy  (IAGP)
Focal impaired awareness seizure  (IAGP)
Focal-onset seizure  (IAGP)
Frontal balding  (IAGP)
Gait ataxia  (IAGP)
Generalized hypotonia  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized myoclonic-atonic seizure  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global developmental delay  (IAGP)
Hyperplasia of the maxilla  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Lack of peer relationships  (IAGP)
Long philtrum  (IAGP)
Microcephaly  (IAGP)
Microphthalmia  (IAGP)
Myoclonus  (IAGP)
Premature skin wrinkling  (IAGP)
Prominent forehead  (IAGP)
Seizure  (IAGP)
Simple febrile seizure  (IAGP)
Syndactyly  (IAGP)
Thick lower lip vermilion  (IAGP)
Thick nasal alae  (IAGP)
Thin upper lip vermilion  (IAGP)
Tremor  (IAGP)
Truncal ataxia  (IAGP)
Unsteady gait  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:2014052   PMID:7569928   PMID:7593184   PMID:7788527   PMID:7989329   PMID:8257432   PMID:8491205   PMID:8595912   PMID:8918456   PMID:9013859   PMID:9171339   PMID:9200449  
PMID:9256472   PMID:9400603   PMID:9571248   PMID:9651214   PMID:9812899   PMID:9882340   PMID:10567358   PMID:10593987   PMID:10747088   PMID:10814565   PMID:10887964   PMID:10910768  
PMID:11031247   PMID:11157096   PMID:11222723   PMID:11247302   PMID:11285224   PMID:11454741   PMID:11583591   PMID:11591131   PMID:11742978   PMID:12010461   PMID:12032142   PMID:12057195  
PMID:12086608   PMID:12121421   PMID:12421765   PMID:12477932   PMID:12577067   PMID:12621057   PMID:12644451   PMID:12646615   PMID:12900408   PMID:12952941   PMID:15020715   PMID:15182197  
PMID:15254094   PMID:15489334   PMID:15604093   PMID:15611114   PMID:15647482   PMID:15778375   PMID:15911768   PMID:15916959   PMID:16055064   PMID:16103193   PMID:16116206   PMID:16139856  
PMID:16189514   PMID:16263766   PMID:16344560   PMID:16498080   PMID:16501101   PMID:16713569   PMID:16723738   PMID:16880396   PMID:16902404   PMID:16905771   PMID:17108326   PMID:17108328  
PMID:17210199   PMID:17220478   PMID:17267500   PMID:17289840   PMID:17290396   PMID:17643423   PMID:17666399   PMID:17984062   PMID:18032517   PMID:18056411   PMID:18187620   PMID:18474601  
PMID:18523139   PMID:18524831   PMID:18596106   PMID:19056867   PMID:19380743   PMID:19419997   PMID:19478868   PMID:19578796   PMID:19581412   PMID:19738201   PMID:19895210   PMID:19903820  
PMID:20012524   PMID:20029029   PMID:20186120   PMID:20360068   PMID:20368287   PMID:20485680   PMID:20639872   PMID:20965945   PMID:21078624   PMID:21081503   PMID:21145461   PMID:21182205  
PMID:21653829   PMID:21762802   PMID:21873635   PMID:21988832   PMID:22004035   PMID:22082156   PMID:22103831   PMID:22323290   PMID:22363329   PMID:22472876   PMID:22623428   PMID:22810586  
PMID:22916011   PMID:23077317   PMID:23125841   PMID:23211419   PMID:23529131   PMID:23676497   PMID:23751493   PMID:23864651   PMID:23874206   PMID:23891661   PMID:23956138   PMID:24040105  
PMID:24067654   PMID:24189400   PMID:24412244   PMID:24603492   PMID:24797263   PMID:24843023   PMID:25048004   PMID:25107275   PMID:25315684   PMID:25754235   PMID:25852190   PMID:25898166  
PMID:26186194   PMID:26317613   PMID:26344197   PMID:26423947   PMID:26496610   PMID:26673895   PMID:26950368   PMID:27173435   PMID:27432908   PMID:27684187   PMID:27934868   PMID:28003333  
PMID:28190767   PMID:28298427   PMID:28378594   PMID:28514442   PMID:28515276   PMID:28675297   PMID:28700943   PMID:28883622   PMID:28982131   PMID:29117863   PMID:29121065   PMID:29298432  
PMID:29395067   PMID:29467282   PMID:29568061   PMID:29599191   PMID:29845934   PMID:29955894   PMID:30021884   PMID:30135209   PMID:30196744   PMID:30260026   PMID:30442662   PMID:30462309  
PMID:30463901   PMID:30575818   PMID:30639242   PMID:30833792   PMID:30940648   PMID:30948266   PMID:31067453   PMID:31091453   PMID:31104773   PMID:31316180   PMID:31340145   PMID:31462741  
PMID:31515488   PMID:31586073   PMID:31678930   PMID:31720911   PMID:31959764   PMID:31980649   PMID:32060556   PMID:32073997   PMID:32203420   PMID:32296183   PMID:32353859   PMID:32416067  
PMID:32513696   PMID:32564485   PMID:32780723   PMID:32792513   PMID:32807901   PMID:33024031   PMID:33060197   PMID:33144569   PMID:33277362   PMID:33378683   PMID:33742100   PMID:33845483  
PMID:33916271   PMID:33961781   PMID:34079125   PMID:34133714   PMID:34709727  


Genomics

Comparative Map Data
AP2M1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3184,174,689 - 184,184,214 (+)EnsemblGRCh38hg38GRCh38
GRCh383184,174,855 - 184,184,091 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373183,892,643 - 183,901,879 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363185,375,328 - 185,384,573 (+)NCBINCBI36hg18NCBI36
Build 343185,375,357 - 185,384,580NCBI
Celera3182,334,345 - 182,343,591 (+)NCBI
Cytogenetic Map3q27.1NCBI
HuRef3181,299,526 - 181,308,773 (+)NCBIHuRef
CHM1_13183,857,039 - 183,866,284 (+)NCBICHM1_1
Ap2m1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391620,354,230 - 20,363,659 (+)NCBIGRCm39mm39
GRCm39 Ensembl1620,354,228 - 20,363,659 (+)Ensembl
GRCm381620,535,480 - 20,544,909 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1620,535,478 - 20,544,909 (+)EnsemblGRCm38mm10GRCm38
MGSCv371620,535,577 - 20,544,126 (+)NCBIGRCm37mm9NCBIm37
MGSCv361620,449,047 - 20,457,596 (+)NCBImm8
Celera1621,099,579 - 21,108,128 (+)NCBICelera
Cytogenetic Map16A3NCBI
Ap2m1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21180,355,307 - 80,364,218 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1180,328,041 - 80,364,140 (-)Ensembl
Rnor_6.01184,041,184 - 84,047,542 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1184,041,184 - 84,047,546 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01187,113,496 - 87,119,854 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41182,585,474 - 82,591,832 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11182,643,062 - 82,649,421 (-)NCBI
Celera1179,194,852 - 79,201,210 (-)NCBICelera
Cytogenetic Map11q23NCBI
Ap2m1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542023,281,720 - 23,290,430 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542023,281,720 - 23,290,430 (-)NCBIChiLan1.0ChiLan1.0
AP2M1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13189,692,898 - 189,702,261 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3189,692,898 - 189,702,261 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03181,210,045 - 181,219,327 (+)NCBIMhudiblu_PPA_v0panPan3
AP2M1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13417,071,199 - 17,080,445 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3417,071,235 - 17,080,445 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3421,158,482 - 21,167,628 (+)NCBI
ROS_Cfam_1.03416,979,339 - 16,988,512 (+)NCBI
ROS_Cfam_1.0 Ensembl3416,979,372 - 16,989,773 (+)Ensembl
UMICH_Zoey_3.13417,016,696 - 17,025,849 (+)NCBI
UNSW_CanFamBas_1.03417,012,627 - 17,021,768 (+)NCBI
UU_Cfam_GSD_1.03417,242,835 - 17,251,997 (+)NCBI
Ap2m1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602119,588,894 - 119,599,828 (-)NCBI
SpeTri2.0NW_0049365785,680,748 - 5,691,666 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AP2M1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13122,089,938 - 122,104,805 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113122,094,375 - 122,103,408 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213131,534,147 - 131,543,179 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AP2M1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1155,242,025 - 5,251,272 (-)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606314,021,045 - 14,030,446 (-)NCBIVero_WHO_p1.0
Ap2m1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473072,386,376 - 72,395,392 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
IB1255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,901,629 - 183,901,854UniSTSGRCh37
Build 363185,384,323 - 185,384,548RGDNCBI36
Celera3182,343,341 - 182,343,566RGD
Cytogenetic Map3q28UniSTS
GeneMap99-GB4 RH Map3687.8UniSTS
Whitehead-RH Map3843.7UniSTS
UTR-04950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,901,504 - 183,901,828UniSTSGRCh37
Build 363185,384,198 - 185,384,522RGDNCBI36
Celera3182,343,216 - 182,343,540RGD
Cytogenetic Map3q28UniSTS
HuRef3181,308,398 - 181,308,722UniSTS
Whitehead-RH Map3844.0UniSTS
RH92621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,901,682 - 183,901,804UniSTSGRCh37
Build 363185,384,376 - 185,384,498RGDNCBI36
Celera3182,343,394 - 182,343,516RGD
Cytogenetic Map3q28UniSTS
HuRef3181,308,576 - 181,308,698UniSTS
GeneMap99-GB4 RH Map3687.8UniSTS
D3S2818E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,901,374 - 183,901,485UniSTSGRCh37
Build 363185,384,068 - 185,384,179RGDNCBI36
Celera3182,343,086 - 182,343,197RGD
Cytogenetic Map3q28UniSTS
HuRef3181,308,268 - 181,308,379UniSTS
SHGC-77602  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,891,159 - 183,891,268UniSTSGRCh37
Build 363185,373,853 - 185,373,962RGDNCBI36
Celera3182,332,870 - 182,332,979RGD
Cytogenetic Map3q28UniSTS
Cytogenetic Map3q27UniSTS
HuRef3181,298,051 - 181,298,160UniSTS
TNG Radiation Hybrid Map3101745.0UniSTS
GeneMap99-GB4 RH Map3693.15UniSTS
SHGC-7485  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,901,629 - 183,901,820UniSTSGRCh37
Build 363185,384,323 - 185,384,514RGDNCBI36
Celera3182,343,341 - 182,343,532RGD
Cytogenetic Map3q28UniSTS
HuRef3181,308,523 - 181,308,714UniSTS
TNG Radiation Hybrid Map3101753.0UniSTS
GeneMap99-G3 RH Map36054.0UniSTS
SHGC-77604  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,901,547 - 183,901,672UniSTSGRCh37
Build 363185,384,241 - 185,384,366RGDNCBI36
Celera3182,343,259 - 182,343,384RGD
Cytogenetic Map3q28UniSTS
HuRef3181,308,441 - 181,308,566UniSTS
TNG Radiation Hybrid Map3101736.0UniSTS
GeneMap99-GB4 RH Map3687.8UniSTS
AP2M1_8258  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,901,301 - 183,901,974UniSTSGRCh37
Build 363185,383,995 - 185,384,668RGDNCBI36
Celera3182,343,013 - 182,343,686RGD
HuRef3181,308,195 - 181,308,868UniSTS
STS-R80399  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,891,095 - 183,891,223UniSTSGRCh37
Build 363185,373,789 - 185,373,917RGDNCBI36
Celera3182,332,806 - 182,332,934RGD
Cytogenetic Map3q28UniSTS
Cytogenetic Map3q27UniSTS
HuRef3181,297,987 - 181,298,115UniSTS
GeneMap99-GB4 RH Map3687.8UniSTS
IB397  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,901,652 - 183,901,836UniSTSGRCh37
Build 363185,384,346 - 185,384,530RGDNCBI36
Celera3182,343,364 - 182,343,548RGD
Cytogenetic Map3q28UniSTS
HuRef3181,308,546 - 181,308,730UniSTS
GeneMap99-GB4 RH Map3686.98UniSTS
Whitehead-RH Map3842.7UniSTS
MARC_13450-13451:1002298269:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,900,588 - 183,901,327UniSTSGRCh37
Build 363185,383,282 - 185,384,021RGDNCBI36
Celera3182,342,300 - 182,343,039RGD
HuRef3181,307,482 - 181,308,221UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR224hsa-miR-224-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI20065103
MIR224hsa-miR-224-3pMirecordsexternal_infoNANA20065103

Predicted Target Of
Summary Value
Count of predictions:5923
Count of miRNA genes:1148
Interacting mature miRNAs:1482
Transcripts:ENST00000292807, ENST00000382456, ENST00000411763, ENST00000427072, ENST00000431779, ENST00000432591, ENST00000439647, ENST00000442686, ENST00000448139, ENST00000455925, ENST00000460862, ENST00000461733, ENST00000463935, ENST00000466598, ENST00000468048, ENST00000472560, ENST00000476434, ENST00000480260, ENST00000484469, ENST00000487958, ENST00000490151
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 5 31 6
Medium 2439 2991 1726 624 1951 465 4357 2197 3729 419 1429 1607 175 1 1204 2788 6 2
Low
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001025205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001311198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC131235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI461415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D63475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB261680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB336127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH767466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U36188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000292807   ⟹   ENSP00000292807
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,855 - 184,184,091 (+)Ensembl
RefSeq Acc Id: ENST00000382456   ⟹   ENSP00000371894
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,689 - 184,184,091 (+)Ensembl
RefSeq Acc Id: ENST00000411763   ⟹   ENSP00000403362
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,855 - 184,183,662 (+)Ensembl
RefSeq Acc Id: ENST00000427072   ⟹   ENSP00000402051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,855 - 184,183,957 (+)Ensembl
RefSeq Acc Id: ENST00000431779   ⟹   ENSP00000404326
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,882 - 184,184,087 (+)Ensembl
RefSeq Acc Id: ENST00000432591   ⟹   ENSP00000395438
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,176,979 - 184,183,616 (+)Ensembl
RefSeq Acc Id: ENST00000439647   ⟹   ENSP00000409081
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,176,778 - 184,184,048 (+)Ensembl
RefSeq Acc Id: ENST00000442686   ⟹   ENSP00000416688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,882 - 184,184,088 (+)Ensembl
RefSeq Acc Id: ENST00000448139   ⟹   ENSP00000402592
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,797 - 184,184,088 (+)Ensembl
RefSeq Acc Id: ENST00000455925   ⟹   ENSP00000404031
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,855 - 184,184,088 (+)Ensembl
RefSeq Acc Id: ENST00000460862
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,855 - 184,184,075 (+)Ensembl
RefSeq Acc Id: ENST00000461733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,855 - 184,184,088 (+)Ensembl
RefSeq Acc Id: ENST00000463935
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,181,712 - 184,183,765 (+)Ensembl
RefSeq Acc Id: ENST00000466598
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,855 - 184,184,088 (+)Ensembl
RefSeq Acc Id: ENST00000468048
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,855 - 184,184,088 (+)Ensembl
RefSeq Acc Id: ENST00000472560
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,917 - 184,181,286 (+)Ensembl
RefSeq Acc Id: ENST00000476434
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,181,195 - 184,182,080 (+)Ensembl
RefSeq Acc Id: ENST00000480260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,855 - 184,184,080 (+)Ensembl
RefSeq Acc Id: ENST00000484469
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,846 - 184,184,080 (+)Ensembl
RefSeq Acc Id: ENST00000487958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,855 - 184,184,088 (+)Ensembl
RefSeq Acc Id: ENST00000490151
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,180,064 - 184,181,793 (+)Ensembl
RefSeq Acc Id: ENST00000621863   ⟹   ENSP00000481563
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,949 - 184,183,824 (+)Ensembl
RefSeq Acc Id: ENST00000684853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,855 - 184,184,086 (+)Ensembl
RefSeq Acc Id: ENST00000685290
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,855 - 184,184,086 (+)Ensembl
RefSeq Acc Id: ENST00000685698
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,855 - 184,184,080 (+)Ensembl
RefSeq Acc Id: ENST00000686364   ⟹   ENSP00000509466
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,689 - 184,184,090 (+)Ensembl
RefSeq Acc Id: ENST00000686942   ⟹   ENSP00000509724
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,853 - 184,184,214 (+)Ensembl
RefSeq Acc Id: ENST00000687623
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,855 - 184,184,086 (+)Ensembl
RefSeq Acc Id: ENST00000688579   ⟹   ENSP00000510498
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,855 - 184,184,083 (+)Ensembl
RefSeq Acc Id: ENST00000688830
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,849 - 184,184,091 (+)Ensembl
RefSeq Acc Id: ENST00000690285   ⟹   ENSP00000510132
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,905 - 184,184,091 (+)Ensembl
RefSeq Acc Id: ENST00000692019
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,174,855 - 184,184,078 (+)Ensembl
RefSeq Acc Id: ENST00000692162
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,181,125 - 184,184,086 (+)Ensembl
RefSeq Acc Id: ENST00000693186
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,181,126 - 184,184,088 (+)Ensembl
RefSeq Acc Id: NM_001025205   ⟹   NP_001020376
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383184,174,855 - 184,184,091 (+)NCBI
GRCh373183,892,634 - 183,901,879 (+)ENTREZGENE
Build 363185,375,328 - 185,384,573 (+)NCBI Archive
HuRef3181,299,526 - 181,308,773 (+)ENTREZGENE
CHM1_13183,857,039 - 183,866,284 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001311198   ⟹   NP_001298127
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383184,174,855 - 184,184,091 (+)NCBI
CHM1_13183,857,039 - 183,866,284 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004068   ⟹   NP_004059
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383184,174,855 - 184,184,091 (+)NCBI
GRCh373183,892,634 - 183,901,879 (+)NCBI
Build 363185,375,328 - 185,384,573 (+)NCBI Archive
HuRef3181,299,526 - 181,308,773 (+)ENTREZGENE
CHM1_13183,857,039 - 183,866,284 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004059   ⟸   NM_004068
- Peptide Label: isoform a
- UniProtKB: Q96CW1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001020376   ⟸   NM_001025205
- Peptide Label: isoform b
- UniProtKB: Q96CW1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001298127   ⟸   NM_001311198
- Peptide Label: isoform c
- UniProtKB: Q96CW1 (UniProtKB/Swiss-Prot),   B4DNB9 (UniProtKB/TrEMBL),   E9PFW3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000292807   ⟸   ENST00000292807
RefSeq Acc Id: ENSP00000409081   ⟸   ENST00000439647
RefSeq Acc Id: ENSP00000481563   ⟸   ENST00000621863
RefSeq Acc Id: ENSP00000403362   ⟸   ENST00000411763
RefSeq Acc Id: ENSP00000402051   ⟸   ENST00000427072
RefSeq Acc Id: ENSP00000404031   ⟸   ENST00000455925
RefSeq Acc Id: ENSP00000416688   ⟸   ENST00000442686
RefSeq Acc Id: ENSP00000404326   ⟸   ENST00000431779
RefSeq Acc Id: ENSP00000395438   ⟸   ENST00000432591
RefSeq Acc Id: ENSP00000402592   ⟸   ENST00000448139
RefSeq Acc Id: ENSP00000371894   ⟸   ENST00000382456
RefSeq Acc Id: ENSP00000510498   ⟸   ENST00000688579
RefSeq Acc Id: ENSP00000509466   ⟸   ENST00000686364
RefSeq Acc Id: ENSP00000509724   ⟸   ENST00000686942
RefSeq Acc Id: ENSP00000510132   ⟸   ENST00000690285
Protein Domains
Clat_adaptor_s   MHD

Promoters
RGD ID:6866430
Promoter ID:EPDNEW_H6380
Type:initiation region
Name:AP2M1_1
Description:adaptor related protein complex 2 mu 1 subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6381  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383184,174,855 - 184,174,915EPDNEW
RGD ID:6866432
Promoter ID:EPDNEW_H6381
Type:initiation region
Name:AP2M1_2
Description:adaptor related protein complex 2 mu 1 subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6380  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383184,180,206 - 184,180,266EPDNEW
RGD ID:6800604
Promoter ID:HG_KWN:46944
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_004068,   OTTHUMT00000346011,   OTTHUMT00000346012,   OTTHUMT00000346013,   OTTHUMT00000346018,   OTTHUMT00000346019,   OTTHUMT00000346020,   OTTHUMT00000346021,   OTTHUMT00000346022,   OTTHUMT00000346023,   OTTHUMT00000346024,   UC003FMX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363185,375,116 - 185,375,616 (+)MPROMDB
RGD ID:6800607
Promoter ID:HG_KWN:46945
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:OTTHUMT00000346025,   OTTHUMT00000346026,   OTTHUMT00000346027,   UC003FMY.1,   UC010HXU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363185,376,431 - 185,377,127 (+)MPROMDB
RGD ID:6800605
Promoter ID:HG_KWN:46946
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000346016,   OTTHUMT00000346017,   OTTHUMT00000346028
Position:
Human AssemblyChrPosition (strand)Source
Build 363185,380,576 - 185,381,076 (+)MPROMDB
RGD ID:6800606
Promoter ID:HG_KWN:46947
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000346029,   OTTHUMT00000346030,   OTTHUMT00000346031,   OTTHUMT00000346032
Position:
Human AssemblyChrPosition (strand)Source
Build 363185,381,976 - 185,382,476 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q26.33-28(chr3:182678453-188418928)x1 copy number loss See cases [RCV000051607] Chr3:182678453..188418928 [GRCh38]
Chr3:182396241..188136716 [GRCh37]
Chr3:183878935..189619410 [NCBI36]
Chr3:3q26.33-28
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
NM_004068.4(AP2M1):c.1173+73T>C single nucleotide variant Intellectual developmental disorder 60 with seizures [RCV001554011] Chr3:184182941 [GRCh38]
Chr3:183900729 [GRCh37]
Chr3:3q27.1
benign
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q27.1(chr3:183747088-184238311)x3 copy number gain See cases [RCV000135560] Chr3:183747088..184238311 [GRCh38]
Chr3:183464876..183956099 [GRCh37]
Chr3:184947570..185438793 [NCBI36]
Chr3:3q27.1
likely benign|uncertain significance
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29
pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29
pathogenic|likely benign
GRCh38/hg38 3q27.1(chr3:183816693-184365094)x3 copy number gain See cases [RCV000137910] Chr3:183816693..184365094 [GRCh38]
Chr3:183534481..184082882 [GRCh37]
Chr3:185017175..185565576 [NCBI36]
Chr3:3q27.1
uncertain significance
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29
pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1 copy number loss See cases [RCV000139917] Chr3:184010704..186288926 [GRCh38]
Chr3:183728492..186006715 [GRCh37]
Chr3:185211186..187489409 [NCBI36]
Chr3:3q27.1-27.2
likely pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1 copy number loss See cases [RCV000142019] Chr3:181138664..192512023 [GRCh38]
Chr3:180856452..192229812 [GRCh37]
Chr3:182339146..193712506 [NCBI36]
Chr3:3q26.33-28
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1 copy number loss See cases [RCV000142154] Chr3:182319764..186443121 [GRCh38]
Chr3:182037552..186160910 [GRCh37]
Chr3:183520246..187643604 [NCBI36]
Chr3:3q26.33-27.3
likely pathogenic
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 copy number gain See cases [RCV000142107] Chr3:167717962..188365272 [GRCh38]
Chr3:167435750..188083060 [GRCh37]
Chr3:168918444..189565754 [NCBI36]
Chr3:3q26.1-28
likely pathogenic
GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1 copy number loss See cases [RCV000143297] Chr3:183521497..184472038 [GRCh38]
Chr3:183239285..184189826 [GRCh37]
Chr3:184721979..185672520 [NCBI36]
Chr3:3q27.1
likely pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29
pathogenic
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
NM_004068.4(AP2M1):c.238G>A (p.Glu80Lys) single nucleotide variant Neurodevelopmental disorder [RCV001374938] Chr3:184179020 [GRCh38]
Chr3:183896808 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29
pathogenic
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29
pathogenic
Single allele duplication Currarino triad [RCV000417195] Chr3:177772523..185716872 [GRCh38]
Chr3:3q26.32-27.2
likely pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)x1 copy number loss See cases [RCV000448937] Chr3:183178932..186838042 [GRCh37]
Chr3:3q27.1-27.3
pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29
pathogenic
GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1 copy number loss not provided [RCV000682337] Chr3:182650681..191275809 [GRCh37]
Chr3:3q26.33-28
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29
pathogenic
NM_004068.4(AP2M1):c.1185G>A (p.Ala395=) single nucleotide variant Intellectual developmental disorder 60 with seizures [RCV001554012] Chr3:184183493 [GRCh38]
Chr3:183901281 [GRCh37]
Chr3:3q27.1
benign
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp) single nucleotide variant Autistic disorder [RCV001263339]|Intellectual developmental disorder 60 with seizures [RCV000850490] Chr3:184180927 [GRCh38]
Chr3:183898715 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_004068.4(AP2M1):c.529G>T (p.Val177Leu) single nucleotide variant Intellectual developmental disorder 60 with seizures [RCV001691948] Chr3:184180948 [GRCh38]
Chr3:183898736 [GRCh37]
Chr3:3q27.1
likely benign
NM_004068.4(AP2M1):c.423+7G>A single nucleotide variant not provided [RCV000891360] Chr3:184180258 [GRCh38]
Chr3:183898046 [GRCh37]
Chr3:3q27.1
benign
GRCh37/hg19 3q27.1-27.3(chr3:183789584-186034649)x1 copy number loss not provided [RCV001005495] Chr3:183789584..186034649 [GRCh37]
Chr3:3q27.1-27.3
likely pathogenic
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 copy number gain not provided [RCV001005487] Chr3:169617690..190593854 [GRCh37]
Chr3:3q26.2-28
pathogenic
NM_004068.4(AP2M1):c.73G>A (p.Gly25Arg) single nucleotide variant Intellectual developmental disorder 60 with seizures [RCV001706805] Chr3:184177066 [GRCh38]
Chr3:183894854 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh37/hg19 3q26.33-27.2(chr3:181171210-184706091)x1 copy number loss Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267847] Chr3:181171210..184706091 [GRCh37]
Chr3:3q26.33-27.2
pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1 copy number loss not provided [RCV001259730] Chr3:182877291..186830759 [GRCh37]
Chr3:3q27.1-27.3
pathogenic
NM_004068.4(AP2M1):c.960C>T (p.Ile320=) single nucleotide variant Intellectual developmental disorder 60 with seizures [RCV001554010] Chr3:184182044 [GRCh38]
Chr3:183899832 [GRCh37]
Chr3:3q27.1
benign
NM_004068.4(AP2M1):c.1293T>C (p.Tyr431=) single nucleotide variant Intellectual developmental disorder 60 with seizures [RCV001554013]|not provided [RCV001522426] Chr3:184183601 [GRCh38]
Chr3:183901389 [GRCh37]
Chr3:3q27.1
benign|likely benign
NM_004068.4(AP2M1):c.911A>C (p.Lys304Thr) single nucleotide variant Intellectual developmental disorder 60 with seizures [RCV001725854] Chr3:184181995 [GRCh38]
Chr3:183899783 [GRCh37]
Chr3:3q27.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:564 AgrOrtholog
COSMIC AP2M1 COSMIC
Ensembl Genes ENSG00000161203 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000292807 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000371894 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000395438 UniProtKB/TrEMBL
  ENSP00000402051 UniProtKB/TrEMBL
  ENSP00000402592 UniProtKB/TrEMBL
  ENSP00000403362 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000404031 UniProtKB/TrEMBL
  ENSP00000404326 UniProtKB/TrEMBL
  ENSP00000409081 UniProtKB/Swiss-Prot
  ENSP00000416688 UniProtKB/TrEMBL
  ENSP00000481563 UniProtKB/TrEMBL
Ensembl Transcript ENST00000292807 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000382456 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000411763 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000427072 UniProtKB/TrEMBL
  ENST00000431779 UniProtKB/TrEMBL
  ENST00000432591 UniProtKB/TrEMBL
  ENST00000439647 UniProtKB/Swiss-Prot
  ENST00000442686 UniProtKB/TrEMBL
  ENST00000448139 UniProtKB/TrEMBL
  ENST00000455925 UniProtKB/TrEMBL
  ENST00000621863 UniProtKB/TrEMBL
GTEx ENSG00000161203 GTEx
HGNC ID HGNC:564 ENTREZGENE
Human Proteome Map AP2M1 Human Proteome Map
InterPro AP2_Mu_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AP2_Mu_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AP_mu_sigma_su UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Clathrin_mu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Clathrin_mu_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Longin-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mu2_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1173 UniProtKB/Swiss-Prot
NCBI Gene 1173 ENTREZGENE
OMIM 601024 OMIM
  618587 OMIM
Pfam Adap_comp_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Clat_adaptor_s UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24855 PharmGKB
PIRSF Clathrin_mu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS CLATHRINADPT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CLAT_ADAPTOR_M_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CLAT_ADAPTOR_M_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49447 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF64356 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WY71_HUMAN UniProtKB/TrEMBL
  AP2M1_HUMAN UniProtKB/Swiss-Prot
  B4DNB9 ENTREZGENE, UniProtKB/TrEMBL
  C9JGT8_HUMAN UniProtKB/TrEMBL
  C9JJ47_HUMAN UniProtKB/TrEMBL
  C9JJD3_HUMAN UniProtKB/TrEMBL
  C9JPV8_HUMAN UniProtKB/TrEMBL
  C9JTK4_HUMAN UniProtKB/TrEMBL
  E9PFW3 ENTREZGENE, UniProtKB/TrEMBL
  H7C4C3_HUMAN UniProtKB/TrEMBL
  Q96CW1 ENTREZGENE
UniProt Secondary A6NE12 UniProtKB/Swiss-Prot
  D3DNT1 UniProtKB/Swiss-Prot
  P20172 UniProtKB/Swiss-Prot
  P53679 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 AP2M1  adaptor related protein complex 2 subunit mu 1    adaptor related protein complex 2 mu 1 subunit  Symbol and/or name change 5135510 APPROVED
2016-01-12 AP2M1  adaptor related protein complex 2 mu 1 subunit    adaptor related protein complex 2, mu 1 subunit  Symbol and/or name change 5135510 APPROVED
2015-12-22 AP2M1  adaptor related protein complex 2, mu 1 subunit    adaptor-related protein complex 2, mu 1 subunit  Symbol and/or name change 5135510 APPROVED
2011-08-16 AP2M1  adaptor-related protein complex 2, mu 1 subunit  AP2M1  adaptor-related protein complex 2, mu 1 subunit  Symbol and/or name change 5135510 APPROVED