PLEKHM3 (pleckstrin homology domain containing M3) - Rat Genome Database

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Gene: PLEKHM3 (pleckstrin homology domain containing M3) Homo sapiens
Analyze
Symbol: PLEKHM3
Name: pleckstrin homology domain containing M3
RGD ID: 2292191
HGNC Page HGNC:34006
Description: Predicted to enable metal ion binding activity. Predicted to be involved in myoblast differentiation. Predicted to be located in Golgi apparatus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DAPR; differentiation associated protein; DKFZp686O04200; FLJ41210; PH domain-containing family M member 3; pleckstrin homology domain containing, family M, member 1-like; pleckstrin homology domain containing, family M, member 3; pleckstrin homology domain-containing family M member 3; PLEKHM1L
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
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
GRCh382207,821,288 - 208,025,527 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2207,821,288 - 208,025,527 (-)EnsemblGRCh38hg38GRCh38
GRCh372208,686,012 - 208,890,251 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362208,401,288 - 208,574,637 (-)NCBINCBI36Build 36hg18NCBI36
Celera2202,448,087 - 202,652,388 (-)NCBICelera
Cytogenetic Map2q33.3NCBI
HuRef2200,528,351 - 200,732,867 (-)NCBIHuRef
CHM1_12208,691,961 - 208,896,203 (-)NCBICHM1_1
T2T-CHM13v2.02208,295,515 - 208,499,792 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA,ISS)
Golgi apparatus  (IEA,ISS)
plasma membrane  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:19028694   PMID:20379614   PMID:29507755   PMID:29568061   PMID:31623606   PMID:32393512   PMID:33961781   PMID:34079125   PMID:34432599   PMID:35271311  
PMID:35384245   PMID:35563538   PMID:36931259  


Genomics

Comparative Map Data
PLEKHM3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382207,821,288 - 208,025,527 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2207,821,288 - 208,025,527 (-)EnsemblGRCh38hg38GRCh38
GRCh372208,686,012 - 208,890,251 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362208,401,288 - 208,574,637 (-)NCBINCBI36Build 36hg18NCBI36
Celera2202,448,087 - 202,652,388 (-)NCBICelera
Cytogenetic Map2q33.3NCBI
HuRef2200,528,351 - 200,732,867 (-)NCBIHuRef
CHM1_12208,691,961 - 208,896,203 (-)NCBICHM1_1
T2T-CHM13v2.02208,295,515 - 208,499,792 (-)NCBIT2T-CHM13v2.0
Plekhm3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39164,828,279 - 64,995,983 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl164,825,142 - 64,995,983 (-)EnsemblGRCm39 Ensembl
GRCm38164,789,120 - 64,956,824 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl164,785,983 - 64,956,824 (-)EnsemblGRCm38mm10GRCm38
MGSCv37164,835,695 - 65,003,398 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36164,723,397 - 64,891,100 (-)NCBIMGSCv36mm8
Celera165,290,516 - 65,457,493 (-)NCBICelera
Cytogenetic Map1C2NCBI
cM Map132.76NCBI
Plekhm3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8973,659,998 - 73,819,079 (-)NCBIGRCr8
mRatBN7.2966,166,233 - 66,325,332 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl966,166,321 - 66,325,294 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0971,492,665 - 71,651,529 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl971,498,293 - 71,651,512 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0970,935,154 - 71,074,261 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4963,442,057 - 63,583,879 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1963,589,038 - 63,723,352 (-)NCBI
Celera963,571,202 - 63,730,053 (-)NCBICelera
Cytogenetic Map9q32NCBI
Plekhm3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554577,065,428 - 7,239,663 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554577,065,443 - 7,239,663 (+)NCBIChiLan1.0ChiLan1.0
PLEKHM3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213110,435,802 - 110,643,005 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B110,450,779 - 110,658,005 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B95,061,743 - 95,265,162 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B213,186,504 - 213,389,109 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B213,193,876 - 213,389,109 (-)Ensemblpanpan1.1panPan2
PLEKHM3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13716,177,125 - 16,354,641 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3716,182,819 - 16,355,003 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3717,060,085 - 17,238,333 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03716,111,878 - 16,290,825 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3716,116,080 - 16,290,796 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13716,057,489 - 16,235,714 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03716,030,442 - 16,208,662 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03716,039,805 - 16,218,067 (-)NCBIUU_Cfam_GSD_1.0
Plekhm3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303164,288,243 - 164,503,017 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366313,960,725 - 4,138,096 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366313,954,774 - 4,138,079 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLEKHM3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15110,994,410 - 111,185,324 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115110,989,123 - 111,185,928 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215122,623,253 - 122,671,379 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PLEKHM3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11093,612,617 - 93,816,814 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1093,616,714 - 93,816,476 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040105,553,005 - 105,758,658 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Plekhm3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247657,981,903 - 8,166,964 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247657,981,903 - 8,173,599 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PLEKHM3
35 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q33.2-35(chr2:203010732-214671878)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]|See cases [RCV000052607] Chr2:203010732..214671878 [GRCh38]
Chr2:203875455..215536602 [GRCh37]
Chr2:203583700..215244847 [NCBI36]
Chr2:2q33.2-35		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q33.3(chr2:207661540-207876453)x3 copy number gain See cases [RCV000135368] Chr2:207661540..207876453 [GRCh38]
Chr2:208526264..208741177 [GRCh37]
Chr2:208234509..208449422 [NCBI36]
Chr2:2q33.3		 uncertain significance
GRCh38/hg38 2q33.3-34(chr2:207949648-208438066)x1 copy number loss See cases [RCV000137082] Chr2:207949648..208438066 [GRCh38]
Chr2:208814372..209302791 [GRCh37]
Chr2:208522617..209011036 [NCBI36]
Chr2:2q33.3-34		 uncertain significance
GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1 copy number loss See cases [RCV000139325] Chr2:207058886..211245603 [GRCh38]
Chr2:207923610..212110328 [GRCh37]
Chr2:207631855..211818573 [NCBI36]
Chr2:2q33.3-34		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1 copy number loss See cases [RCV000139629] Chr2:204906843..210031449 [GRCh38]
Chr2:205771566..210896173 [GRCh37]
Chr2:205479811..210604418 [NCBI36]
Chr2:2q33.3-34		 pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 copy number loss See cases [RCV000141076] Chr2:199946494..209985195 [GRCh38]
Chr2:200811217..210849919 [GRCh37]
Chr2:200519462..210558164 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1 copy number loss See cases [RCV000143301] Chr2:199937273..210031924 [GRCh38]
Chr2:200801996..210896648 [GRCh37]
Chr2:200510241..210604893 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001080475.3(PLEKHM3):c.1072C>G (p.Gln358Glu) single nucleotide variant not specified [RCV004310098] Chr2:207977125 [GRCh38]
Chr2:208841849 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.1793T>G (p.Leu598Arg) single nucleotide variant not specified [RCV004308270] Chr2:207931019 [GRCh38]
Chr2:208795743 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.1310G>A (p.Arg437Gln) single nucleotide variant not specified [RCV004314697] Chr2:207976887 [GRCh38]
Chr2:208841611 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.1466C>G (p.Ser489Cys) single nucleotide variant not specified [RCV004302817] Chr2:207976731 [GRCh38]
Chr2:208841455 [GRCh37]
Chr2:2q33.3		 uncertain significance
GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3 copy number gain not provided [RCV000682166] Chr2:205169148..219149293 [GRCh37]
Chr2:2q33.3-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1 copy number loss not provided [RCV001258576] Chr2:204445619..212580788 [GRCh37]
Chr2:2q33.2-34		 pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
NM_001080475.3(PLEKHM3):c.1222G>T (p.Asp408Tyr) single nucleotide variant not specified [RCV004292768] Chr2:207976975 [GRCh38]
Chr2:208841699 [GRCh37]
Chr2:2q33.3		 uncertain significance
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2q33.3-34(chr2:208801409-209164383) copy number gain not specified [RCV002053277] Chr2:208801409..209164383 [GRCh37]
Chr2:2q33.3-34		 uncertain significance
GRCh37/hg19 2q33.1-34(chr2:200851079-209054267) copy number loss not specified [RCV002053275] Chr2:200851079..209054267 [GRCh37]
Chr2:2q33.1-34		 pathogenic
NC_000002.11:g.(?_203420070)_(211811277_?)del deletion Primary pulmonary hypertension [RCV002016799] Chr2:203420070..211811277 [GRCh37]
Chr2:2q33.2-34		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 copy number loss not provided [RCV002473800] Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34		 pathogenic
NM_001080475.3(PLEKHM3):c.1550G>T (p.Cys517Phe) single nucleotide variant not specified [RCV004130629] Chr2:207946509 [GRCh38]
Chr2:208811233 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.1330G>A (p.Ala444Thr) single nucleotide variant not specified [RCV004233833] Chr2:207976867 [GRCh38]
Chr2:208841591 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.2083C>T (p.Pro695Ser) single nucleotide variant not specified [RCV004131122] Chr2:207861130 [GRCh38]
Chr2:208725854 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.1001C>T (p.Thr334Ile) single nucleotide variant not specified [RCV004154016] Chr2:207977196 [GRCh38]
Chr2:208841920 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.967A>G (p.Ile323Val) single nucleotide variant not specified [RCV004183837] Chr2:207977230 [GRCh38]
Chr2:208841954 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.464C>A (p.Thr155Asn) single nucleotide variant not specified [RCV004242045] Chr2:208001176 [GRCh38]
Chr2:208865900 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.2097T>G (p.Ile699Met) single nucleotide variant not specified [RCV004186619] Chr2:207861116 [GRCh38]
Chr2:208725840 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.1421A>G (p.Lys474Arg) single nucleotide variant not specified [RCV004132521] Chr2:207976776 [GRCh38]
Chr2:208841500 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.643A>G (p.Lys215Glu) single nucleotide variant not specified [RCV004081539] Chr2:207977554 [GRCh38]
Chr2:208842278 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.1622G>A (p.Ser541Asn) single nucleotide variant not specified [RCV004104559] Chr2:207946437 [GRCh38]
Chr2:208811161 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.1322G>A (p.Arg441Gln) single nucleotide variant not specified [RCV004209769] Chr2:207976875 [GRCh38]
Chr2:208841599 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.1420A>G (p.Lys474Glu) single nucleotide variant not specified [RCV004143011] Chr2:207976777 [GRCh38]
Chr2:208841501 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.1657C>T (p.Arg553Cys) single nucleotide variant not specified [RCV004243643] Chr2:207946402 [GRCh38]
Chr2:208811126 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.2060G>A (p.Cys687Tyr) single nucleotide variant not specified [RCV004173749] Chr2:207861153 [GRCh38]
Chr2:208725877 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.37T>G (p.Leu13Val) single nucleotide variant not specified [RCV004104748] Chr2:208001603 [GRCh38]
Chr2:208866327 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.1342A>T (p.Met448Leu) single nucleotide variant not specified [RCV004322992] Chr2:207976855 [GRCh38]
Chr2:208841579 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.671A>G (p.His224Arg) single nucleotide variant not specified [RCV004284862] Chr2:207977526 [GRCh38]
Chr2:208842250 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.1433G>A (p.Gly478Asp) single nucleotide variant not specified [RCV004251520] Chr2:207976764 [GRCh38]
Chr2:208841488 [GRCh37]
Chr2:2q33.3		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_001080475.3(PLEKHM3):c.125T>G (p.Val42Gly) single nucleotide variant not specified [RCV004365864] Chr2:208001515 [GRCh38]
Chr2:208866239 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.1088T>C (p.Leu363Pro) single nucleotide variant not specified [RCV004359217] Chr2:207977109 [GRCh38]
Chr2:208841833 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.145G>A (p.Glu49Lys) single nucleotide variant not specified [RCV004350786] Chr2:208001495 [GRCh38]
Chr2:208866219 [GRCh37]
Chr2:2q33.3		 uncertain significance
GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1 copy number loss not specified [RCV003986210] Chr2:204110688..211638554 [GRCh37]
Chr2:2q33.2-34		 pathogenic
GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1 copy number loss not specified [RCV003986323] Chr2:194305623..215261531 [GRCh37]
Chr2:2q32.3-34		 pathogenic
NM_001080475.3(PLEKHM3):c.1958A>G (p.Glu653Gly) single nucleotide variant not specified [RCV004506482] Chr2:207861255 [GRCh38]
Chr2:208725979 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.875C>T (p.Ser292Leu) single nucleotide variant not specified [RCV004506487] Chr2:207977322 [GRCh38]
Chr2:208842046 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.2162C>G (p.Pro721Arg) single nucleotide variant not specified [RCV004506485] Chr2:207828443 [GRCh38]
Chr2:208693167 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.1496C>T (p.Thr499Met) single nucleotide variant not specified [RCV004506479] Chr2:207976701 [GRCh38]
Chr2:208841425 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.1582G>A (p.Ala528Thr) single nucleotide variant not specified [RCV004506480] Chr2:207946477 [GRCh38]
Chr2:208811201 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.2106C>G (p.Ser702Arg) single nucleotide variant not specified [RCV004506484] Chr2:207861107 [GRCh38]
Chr2:208725831 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.1135G>A (p.Ala379Thr) single nucleotide variant not specified [RCV004506477] Chr2:207977062 [GRCh38]
Chr2:208841786 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.161T>C (p.Ile54Thr) single nucleotide variant not specified [RCV004506481] Chr2:208001479 [GRCh38]
Chr2:208866203 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.2096T>C (p.Ile699Thr) single nucleotide variant not specified [RCV004506483] Chr2:207861117 [GRCh38]
Chr2:208725841 [GRCh37]
Chr2:2q33.3		 uncertain significance
NM_001080475.3(PLEKHM3):c.583A>C (p.Lys195Gln) single nucleotide variant not specified [RCV004506486] Chr2:208001057 [GRCh38]
Chr2:208865781 [GRCh37]
Chr2:2q33.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1293
Count of miRNA genes:787
Interacting mature miRNAs:902
Transcripts:ENST00000389247, ENST00000427836, ENST00000447645, ENST00000457206
Prediction methods: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
D2S154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372208,801,350 - 208,801,669UniSTSGRCh37
GRCh372208,801,332 - 208,801,545UniSTSGRCh37
Build 362208,509,595 - 208,509,914RGDNCBI36
Celera2202,563,449 - 202,563,764RGD
Celera2202,563,431 - 202,563,644UniSTS
Cytogenetic Map2q33.3UniSTS
HuRef2200,643,923 - 200,644,136UniSTS
HuRef2200,643,941 - 200,644,256UniSTS
Marshfield Genetic Map2206.13RGD
Genethon Genetic Map2209.8UniSTS
TNG Radiation Hybrid Map2114528.0UniSTS
deCODE Assembly Map2205.04UniSTS
GeneMap99-GB4 RH Map2645.72UniSTS
Whitehead-YAC Contig Map2 UniSTS
D2S2208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372208,724,833 - 208,725,006UniSTSGRCh37
Build 362208,433,078 - 208,433,251RGDNCBI36
Celera2202,486,908 - 202,487,077RGD
Cytogenetic Map2q33.3UniSTS
HuRef2200,567,123 - 200,567,292UniSTS
Marshfield Genetic Map2205.06UniSTS
Marshfield Genetic Map2205.06RGD
Genethon Genetic Map2211.5UniSTS
TNG Radiation Hybrid Map2114496.0UniSTS
Stanford-G3 RH Map28250.0UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map21529.6UniSTS
GeneMap99-G3 RH Map29089.0UniSTS
D2S1941E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372208,793,498 - 208,793,598UniSTSGRCh37
Build 362208,501,743 - 208,501,843RGDNCBI36
Celera2202,555,597 - 202,555,697RGD
Cytogenetic Map2q33.3UniSTS
HuRef2200,636,089 - 200,636,189UniSTS
SHGC-149597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372208,693,375 - 208,693,656UniSTSGRCh37
Build 362208,401,620 - 208,401,901RGDNCBI36
Celera2202,455,450 - 202,455,731RGD
Cytogenetic Map2q33.3UniSTS
HuRef2200,535,695 - 200,535,976UniSTS
TNG Radiation Hybrid Map2114478.0UniSTS
AB046102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372208,686,489 - 208,686,621UniSTSGRCh37
Build 362208,394,734 - 208,394,866RGDNCBI36
Celera2202,448,564 - 202,448,696RGD
HuRef2200,528,828 - 200,528,960UniSTS
SHGC-57579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372208,888,086 - 208,888,224UniSTSGRCh37
Build 362208,596,331 - 208,596,469RGDNCBI36
Celera2202,650,180 - 202,650,318RGD
Cytogenetic Map2q33.3UniSTS
HuRef2200,730,659 - 200,730,797UniSTS
TNG Radiation Hybrid Map2114700.0UniSTS
D22S958  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map14q23-q24UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map10q24.1UniSTS
D16S325  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3q13.32UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map2p13-p12UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map1p36.3-p34.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19q13.4UniSTS
D2S154  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q33.3UniSTS
Marshfield Genetic Map2206.13UniSTS
Genethon Genetic Map2209.8UniSTS
deCODE Assembly Map2205.04UniSTS
GeneMap99-GB4 RH Map2645.72UniSTS
Whitehead-YAC Contig Map2 UniSTS


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
Medium 14 27 116 3 18 3 25 12 357 11 57 123 2 1 4 21 1 1
Low 2418 2837 1595 608 1847 449 4326 2129 3361 362 1382 1488 172 1200 2762 5 1
Below cutoff 7 127 15 13 86 13 6 56 16 46 21 2 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001080475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC083900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC096772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF462444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC151137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000343987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2207,821,290 - 207,822,769 (-)Ensembl
RefSeq Acc Id: ENST00000427836   ⟹   ENSP00000417003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2207,821,288 - 208,025,527 (-)Ensembl
RefSeq Acc Id: ENST00000447645   ⟹   ENSP00000395354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2207,851,238 - 207,977,450 (-)Ensembl
RefSeq Acc Id: ENST00000457206   ⟹   ENSP00000400150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2207,900,041 - 208,025,498 (-)Ensembl
RefSeq Acc Id: NM_001080475   ⟹   NP_001073944
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,821,288 - 208,025,527 (-)NCBI
GRCh372208,686,012 - 208,890,284 (-)NCBI
Build 362208,401,288 - 208,574,637 (-)NCBI Archive
Celera2202,448,087 - 202,652,388 (-)RGD
HuRef2200,528,351 - 200,732,867 (-)RGD
CHM1_12208,691,961 - 208,896,203 (-)NCBI
T2T-CHM13v2.02208,295,515 - 208,499,792 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005246545   ⟹   XP_005246602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,821,288 - 208,025,527 (-)NCBI
GRCh372208,686,012 - 208,890,284 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712521   ⟹   XP_006712584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,868,582 - 208,025,527 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511160   ⟹   XP_011509462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,821,288 - 208,025,527 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511163   ⟹   XP_011509465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,900,039 - 208,025,527 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004072   ⟹   XP_016859561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,821,288 - 207,999,028 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004073   ⟹   XP_016859562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,821,288 - 208,025,527 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047444266   ⟹   XP_047300222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382207,868,582 - 208,025,527 (-)NCBI
RefSeq Acc Id: XM_054341966   ⟹   XP_054197941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,295,515 - 208,499,792 (-)NCBI
RefSeq Acc Id: XM_054341967   ⟹   XP_054197942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,373,118 - 208,499,792 (-)NCBI
RefSeq Acc Id: XM_054341968   ⟹   XP_054197943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,342,809 - 208,499,792 (-)NCBI
RefSeq Acc Id: XM_054341969   ⟹   XP_054197944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,342,809 - 208,499,792 (-)NCBI
RefSeq Acc Id: XM_054341970   ⟹   XP_054197945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,295,515 - 208,499,792 (-)NCBI
RefSeq Acc Id: XM_054341971   ⟹   XP_054197946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,295,515 - 208,473,278 (-)NCBI
RefSeq Acc Id: XM_054341972   ⟹   XP_054197947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,295,515 - 208,499,792 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001073944   ⟸   NM_001080475
- UniProtKB: B9EKV2 (UniProtKB/Swiss-Prot),   Q8WW68 (UniProtKB/Swiss-Prot),   Q6ZWE6 (UniProtKB/Swiss-Prot),   C9J119 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005246602   ⟸   XM_005246545
- Peptide Label: isoform X4
- UniProtKB: C9J119 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006712584   ⟸   XM_006712521
- Peptide Label: isoform X3
- UniProtKB: C9J119 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011509462   ⟸   XM_011511160
- Peptide Label: isoform X1
- UniProtKB: B9EKV2 (UniProtKB/Swiss-Prot),   Q8WW68 (UniProtKB/Swiss-Prot),   Q6ZWE6 (UniProtKB/Swiss-Prot),   C9J119 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011509465   ⟸   XM_011511163
- Peptide Label: isoform X2
- UniProtKB: C9J119 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016859562   ⟸   XM_017004073
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016859561   ⟸   XM_017004072
- Peptide Label: isoform X5
- UniProtKB: H7C0J9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000417003   ⟸   ENST00000427836
RefSeq Acc Id: ENSP00000400150   ⟸   ENST00000457206
RefSeq Acc Id: ENSP00000395354   ⟸   ENST00000447645
RefSeq Acc Id: XP_047300222   ⟸   XM_047444266
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054197947   ⟸   XM_054341972
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054197945   ⟸   XM_054341970
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054197941   ⟸   XM_054341966
- Peptide Label: isoform X1
- UniProtKB: Q6ZWE6 (UniProtKB/Swiss-Prot),   B9EKV2 (UniProtKB/Swiss-Prot),   Q8WW68 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054197946   ⟸   XM_054341971
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054197943   ⟸   XM_054341968
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054197944   ⟸   XM_054341969
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054197942   ⟸   XM_054341967
- Peptide Label: isoform X2
Protein Domains
PH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6ZWE6-F1-model_v2 AlphaFold Q6ZWE6 1-761 view protein structure

Promoters
RGD ID:6862668
Promoter ID:EPDNEW_H4499
Type:initiation region
Name:PLEKHM3_1
Description:pleckstrin homology domain containing M3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,025,527 - 208,025,587EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:34006 AgrOrtholog
COSMIC PLEKHM3 COSMIC
Ensembl Genes ENSG00000178385 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000427836 ENTREZGENE
  ENST00000427836.8 UniProtKB/Swiss-Prot
  ENST00000447645 ENTREZGENE
  ENST00000447645.5 UniProtKB/TrEMBL
  ENST00000457206 ENTREZGENE
  ENST00000457206.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000178385 GTEx
HGNC ID HGNC:34006 ENTREZGENE
Human Proteome Map PLEKHM3 Human Proteome Map
InterPro PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLEKHM3_PH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zf-RING_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:389072 UniProtKB/Swiss-Prot
NCBI Gene 389072 ENTREZGENE
OMIM 619186 OMIM
PANTHER PLECKSTRIN HOMOLOGY DOMAIN CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING FAMILY M MEMBER 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-RING_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162399738 PharmGKB
PROSITE PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DUF4206 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B9EKV2 ENTREZGENE
  C9J119 ENTREZGENE, UniProtKB/TrEMBL
  H7C0J9 ENTREZGENE, UniProtKB/TrEMBL
  PKHM3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8WW68 ENTREZGENE
UniProt Secondary B9EKV2 UniProtKB/Swiss-Prot
  Q8WW68 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PLEKHM3  pleckstrin homology domain containing M3    pleckstrin homology domain containing, family M, member 3  Symbol and/or name change 5135510 APPROVED