MAPK8IP2 (mitogen-activated protein kinase 8 interacting protein 2) - Rat Genome Database

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Gene: MAPK8IP2 (mitogen-activated protein kinase 8 interacting protein 2) Homo sapiens
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Symbol: MAPK8IP2
Name: mitogen-activated protein kinase 8 interacting protein 2
RGD ID: 1320222
HGNC Page HGNC:6883
Description: Enables MAP-kinase scaffold activity; protein kinase activator activity; and protein kinase binding activity. Involved in negative regulation of apoptotic signaling pathway and regulation of JNK cascade. Acts upstream of or within MAPK cascade. Located in cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C-Jun-amino-terminal kinase-interacting protein 2; homologous to mouse JIP-1; IB-2; IB2; islet-brain 2; islet-brain-2; JIP-2; JIP2; JNK MAP kinase scaffold protein 2; JNK MAP kinase scaffold protein JIP2; JNK-interacting protein 2; mitogen-activated protein kinase 8-interacting protein 2; PRKM8 interacting protein-like; PRKM8IPL
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black 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
GRCh382250,600,793 - 50,613,978 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2250,600,677 - 50,613,981 (+)Ensemblhg38GRCh38
GRCh372251,039,222 - 51,052,406 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362249,385,997 - 49,396,845 (+)NCBIBuild 36Build 36hg18NCBI36
Build 342249,329,274 - 49,340,120NCBI
Celera2234,915,169 - 34,926,024 (+)NCBICelera
Cytogenetic Map22q13.33NCBI
HuRef2233,930,149 - 33,940,671 (+)NCBIHuRef
CHM1_12250,997,869 - 51,008,740 (+)NCBICHM1_1
T2T-CHM13v2.02251,111,308 - 51,124,536 (+)NCBIT2T-CHM13v2.0
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. p38 MAP-kinases pathway regulation, function and role in human diseases. Cuenda A and Rousseau S, Biochim Biophys Acta. 2007 Aug;1773(8):1358-75. Epub 2007 Mar 24.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
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. Regulatory mechanisms of mitogen-activated kinase signaling. Zhang Y and Dong C, Cell Mol Life Sci. 2007 Nov;64(21):2771-89.
Additional References at PubMed
PMID:8619474   PMID:8889548   PMID:9110174   PMID:10490659   PMID:10591208   PMID:10629060   PMID:10756100   PMID:10827173   PMID:10827199   PMID:11378392   PMID:12023290   PMID:12024021  
PMID:12244047   PMID:12477932   PMID:12508107   PMID:12524447   PMID:12529303   PMID:12893827   PMID:14702039   PMID:15489334   PMID:16169070   PMID:16273093   PMID:16301330   PMID:16456539  
PMID:17719230   PMID:18286207   PMID:20173330   PMID:21048139   PMID:21873635   PMID:21900206   PMID:23225497   PMID:24551779   PMID:24561123   PMID:24658140   PMID:25402006   PMID:25515538  
PMID:25814554   PMID:28514442   PMID:31980649   PMID:32296183   PMID:32427938   PMID:32814053   PMID:33961781   PMID:34709727   PMID:35914814   PMID:37704626   PMID:39013462  


Genomics

Comparative Map Data
MAPK8IP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382250,600,793 - 50,613,978 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2250,600,677 - 50,613,981 (+)Ensemblhg38GRCh38
GRCh372251,039,222 - 51,052,406 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362249,385,997 - 49,396,845 (+)NCBIBuild 36Build 36hg18NCBI36
Build 342249,329,274 - 49,340,120NCBI
Celera2234,915,169 - 34,926,024 (+)NCBICelera
Cytogenetic Map22q13.33NCBI
HuRef2233,930,149 - 33,940,671 (+)NCBIHuRef
CHM1_12250,997,869 - 51,008,740 (+)NCBICHM1_1
T2T-CHM13v2.02251,111,308 - 51,124,536 (+)NCBIT2T-CHM13v2.0
Mapk8ip2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391589,338,114 - 89,346,650 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1589,338,116 - 89,348,671 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm381589,453,911 - 89,462,447 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1589,453,913 - 89,464,468 (+)Ensemblmm10GRCm38
MGSCv371589,284,342 - 89,292,878 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361589,281,899 - 89,290,214 (+)NCBIMGSCv36mm8
Celera1591,583,092 - 91,591,637 (+)NCBICelera
Cytogenetic Map15E3NCBI
cM Map1544.92NCBI
Mapk8ip2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87122,406,350 - 122,416,602 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl7122,406,350 - 122,416,602 (+)EnsemblGRCr8
mRatBN7.27120,526,732 - 120,536,982 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7120,526,732 - 120,536,982 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx7122,278,692 - 122,288,932 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07124,504,838 - 124,515,078 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07124,467,043 - 124,477,294 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.07130,430,588 - 130,440,838 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7130,431,213 - 130,440,703 (+)Ensemblrn6Rnor6.0
Rnor_5.07130,115,981 - 130,125,659 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.47127,773,156 - 127,780,772 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera7116,999,347 - 117,009,586 (+)NCBICelera
RGSC_v3.17127,805,813 - 127,814,278 (+)NCBI
Cytogenetic Map7q34NCBI
Mapk8ip2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541333,608,655 - 33,617,255 (+)Ensembl
ChiLan1.0NW_00495541333,608,092 - 33,617,984 (+)NCBIChiLan1.0ChiLan1.0
MAPK8IP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22360,520,373 - 60,531,547 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12263,210,949 - 63,222,066 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02230,846,613 - 30,857,737 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12249,957,769 - 49,967,746 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2249,957,769 - 49,966,986 (+)EnsemblpanPan2panpan1.1
MAPK8IP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11016,702,623 - 16,712,426 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1016,702,621 - 16,712,278 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1016,680,259 - 16,690,122 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01017,428,927 - 17,438,796 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1017,428,925 - 17,438,588 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11017,153,336 - 17,163,199 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01017,476,390 - 17,486,257 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01017,608,511 - 17,618,380 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Mapk8ip2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945201,274 - 211,058 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936629200,534 - 211,064 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_004936629201,269 - 211,058 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MAPK8IP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl5120,580 - 130,939 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.15120,575 - 131,060 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
MAPK8IP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11933,079,548 - 33,090,221 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1933,079,626 - 33,091,514 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366604592,245,858 - 92,256,615 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mapk8ip2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624752163,462 - 171,859 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_004624752162,724 - 171,984 (-)NCBIHetGla 1.0HetGla 1.0hetGla2
Mapk8ip2
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v11258,759,019 - 258,769,603 (+)NCBIRrattus_CSIRO_v1

Variants

.
Variants in MAPK8IP2
38 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1 copy number loss See cases [RCV000050935] Chr22:45239376..50739836 [GRCh38]
Chr22:45635257..51178264 [GRCh37]
Chr22:44013921..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1 copy number loss See cases [RCV000050848] Chr22:47705262..50739836 [GRCh38]
Chr22:48101011..51178264 [GRCh37]
Chr22:46479675..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 copy number loss See cases [RCV000051371] Chr22:42433752..50738932 [GRCh38]
Chr22:42829758..51177360 [GRCh37]
Chr22:41159702..49524226 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 copy number loss See cases [RCV000051407] Chr22:42826246..50739836 [GRCh38]
Chr22:43222252..51178264 [GRCh37]
Chr22:41552196..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 copy number loss See cases [RCV000051408] Chr22:43807366..50739836 [GRCh38]
Chr22:44203246..51178264 [GRCh37]
Chr22:42534579..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1 copy number loss See cases [RCV000051409] Chr22:43993654..50739977 [GRCh38]
Chr22:44389534..51178405 [GRCh37]
Chr22:42720867..49525271 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1 copy number loss See cases [RCV000051410] Chr22:44740175..50739836 [GRCh38]
Chr22:45136055..51178264 [GRCh37]
Chr22:43514719..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1 copy number loss See cases [RCV000051411] Chr22:45648256..50739836 [GRCh38]
Chr22:46044136..51178264 [GRCh37]
Chr22:44422800..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1 copy number loss See cases [RCV000051412] Chr22:47122613..50739836 [GRCh38]
Chr22:47518509..51178264 [GRCh37]
Chr22:45897173..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1 copy number loss See cases [RCV000051413] Chr22:47234701..50739836 [GRCh38]
Chr22:47630451..51178264 [GRCh37]
Chr22:46009115..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1 copy number loss See cases [RCV000051440] Chr22:48138038..50739836 [GRCh38]
Chr22:48533855..51178264 [GRCh37]
Chr22:46912519..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48423668-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|See cases [RCV000051441] Chr22:48423668..50739836 [GRCh38]
Chr22:48819480..51178264 [GRCh37]
Chr22:47198144..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48654672-50739836)x1 copy number loss See cases [RCV000051442] Chr22:48654672..50739836 [GRCh38]
Chr22:49050484..51178264 [GRCh37]
Chr22:47436920..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1 copy number loss See cases [RCV000051443] Chr22:49395349..50738932 [GRCh38]
Chr22:49788999..51177360 [GRCh37]
Chr22:48175003..49524226 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1 copy number loss See cases [RCV000051098] Chr22:46065705..50739836 [GRCh38]
Chr22:46461585..51178264 [GRCh37]
Chr22:44840249..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 copy number gain See cases [RCV000051686] Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 copy number gain See cases [RCV000051687] Chr22:42653747..50739836 [GRCh38]
Chr22:43049753..51178264 [GRCh37]
Chr22:41379697..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|See cases [RCV000051688] Chr22:44700812..50739836 [GRCh38]
Chr22:45096692..51178264 [GRCh37]
Chr22:43475356..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3 copy number gain See cases [RCV000051689] Chr22:44811200..50739836 [GRCh38]
Chr22:45207080..51178264 [GRCh37]
Chr22:43585744..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49378128-50739836)x1 copy number loss See cases [RCV000133859] Chr22:49378128..50739836 [GRCh38]
Chr22:49774048..51178264 [GRCh37]
Chr22:48160052..49525130 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1 copy number loss See cases [RCV000133865] Chr22:44606363..50739836 [GRCh38]
Chr22:45002243..51178264 [GRCh37]
Chr22:43380907..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49315518-50739836)x1 copy number loss See cases [RCV000133707] Chr22:49315518..50739836 [GRCh38]
Chr22:49711443..51178264 [GRCh37]
Chr22:48097447..49525130 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49504768-50780581)x1 copy number loss See cases [RCV000135691] Chr22:49504768..50780581 [GRCh38]
Chr22:49898417..51203353 [GRCh37]
Chr22:48284421..49565875 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 copy number loss See cases [RCV000135444] Chr22:43902561..50739836 [GRCh38]
Chr22:44298441..51178264 [GRCh37]
Chr22:42629774..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1 copy number loss See cases [RCV000135615] Chr22:46919818..50739836 [GRCh38]
Chr22:47315714..51178264 [GRCh37]
Chr22:45694378..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:50055303-50677724)x3 copy number gain See cases [RCV000136106] Chr22:50055303..50677724 [GRCh38]
Chr22:50493732..51116152 [GRCh37]
Chr22:48835859..49463018 [NCBI36]
Chr22:22q13.33		 uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3 copy number gain See cases [RCV000136573] Chr22:44797239..50739836 [GRCh38]
Chr22:45193119..51178264 [GRCh37]
Chr22:43571783..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3 copy number gain See cases [RCV000136124] Chr22:43992879..50683114 [GRCh38]
Chr22:44388759..51121542 [GRCh37]
Chr22:42720092..49468408 [NCBI36]
Chr22:22q13.31-13.33		 benign
GRCh38/hg38 22q13.33(chr22:50274967-50739836)x3 copy number gain See cases [RCV000136874] Chr22:50274967..50739836 [GRCh38]
Chr22:50713396..51178264 [GRCh37]
Chr22:49055523..49525130 [NCBI36]
Chr22:22q13.33		 benign
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1 copy number loss See cases [RCV000136941] Chr22:48614336..50739836 [GRCh38]
Chr22:49010148..51178264 [GRCh37]
Chr22:47396711..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 copy number gain See cases [RCV000137136] Chr22:42710276..50739836 [GRCh38]
Chr22:43106282..51178264 [GRCh37]
Chr22:41436226..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1 copy number loss See cases [RCV000136894] Chr22:44764289..50739836 [GRCh38]
Chr22:45160169..51178264 [GRCh37]
Chr22:43538833..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1 copy number loss See cases [RCV000137377] Chr22:48500344..50780581 [GRCh38]
Chr22:48896156..51203353 [GRCh37]
Chr22:47274820..49565875 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1 copy number loss See cases [RCV000140089] Chr22:50149563..50780522 [GRCh38]
Chr22:50587992..51218950 [GRCh37]
Chr22:48930119..49565816 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49535113-50780581)x1 copy number loss See cases [RCV000139655] Chr22:49535113..50780581 [GRCh38]
Chr22:49928762..51203353 [GRCh37]
Chr22:48314766..49565875 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 copy number loss See cases [RCV000141415] Chr22:42837094..50735806 [GRCh38]
Chr22:43233100..51174234 [GRCh37]
Chr22:41563044..49521100 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 copy number loss See cases [RCV000140901] Chr22:43187980..50745444 [GRCh38]
Chr22:43583986..51183872 [GRCh37]
Chr22:41913930..49530738 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1 copy number loss See cases [RCV000140772] Chr22:46732445..50780522 [GRCh38]
Chr22:47128342..51218950 [GRCh37]
Chr22:45507006..49565816 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 copy number gain See cases [RCV000141659] Chr22:42380961..50759410 [GRCh38]
Chr22:42776967..51197838 [GRCh37]
Chr22:41106911..49544704 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:50485457-50759410)x1 copy number loss See cases [RCV000142303] Chr22:50485457..50759410 [GRCh38]
Chr22:50923886..51197838 [GRCh37]
Chr22:49270752..49544704 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48241375-50739836)x1 copy number loss See cases [RCV000142589] Chr22:48241375..50739836 [GRCh38]
Chr22:48637187..51178264 [GRCh37]
Chr22:47015851..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:50560890-50739829)x3 copy number gain See cases [RCV000143203] Chr22:50560890..50739829 [GRCh38]
Chr22:50999319..51178257 [GRCh37]
Chr22:49346185..49525123 [NCBI36]
Chr22:22q13.33		 uncertain significance
GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1 copy number loss See cases [RCV000143708] Chr22:49529760..50759410 [GRCh38]
Chr22:49923409..51197838 [GRCh37]
Chr22:48309413..49544704 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1 copy number loss See cases [RCV000143487] Chr22:46361165..50759299 [GRCh38]
Chr22:46757062..51197727 [GRCh37]
Chr22:45135726..49544593 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss Phelan-McDermid syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759) copy number loss not provided [RCV000767746] Chr22:45075720..51181759 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
Single allele deletion Autism spectrum disorder [RCV000208741] Chr22:49033233..51193680 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
Single allele deletion Autism spectrum disorder [RCV000208718] Chr22:51027581..51234443 [GRCh37]
Chr22:22q13.33		 pathogenic
Single allele deletion Autism spectrum disorder [RCV000208731] Chr22:50282986..51304566 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50922386-51205985)x1 copy number loss See cases [RCV000240423] Chr22:50922386..51205985 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33		 pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
NM_012324.6(MAPK8IP2):c.203C>T (p.Pro68Leu) single nucleotide variant not specified [RCV004296402] Chr22:50603254 [GRCh38]
Chr22:51041683 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:51032758-51061541)x1 copy number loss See cases [RCV000449123] Chr22:51032758..51061541 [GRCh37]
Chr22:22q13.33		 likely benign
GRCh37/hg19 22q13.31-13.33(chr22:47247169-51176099)x1 copy number loss See cases [RCV000449140] Chr22:47247169..51176099 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47187586-51237463)x1 copy number loss See cases [RCV000446928] Chr22:47187586..51237463 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50941373-51066468)x3 copy number gain See cases [RCV000447418] Chr22:50941373..51066468 [GRCh37]
Chr22:22q13.33		 likely benign
GRCh37/hg19 22q13.31-13.33(chr22:46866460-51197838)x1 copy number loss See cases [RCV000447857] Chr22:46866460..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 copy number loss See cases [RCV000512121] Chr22:43381459..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49628164-51197838)x1 copy number loss See cases [RCV000510342] Chr22:49628164..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1 copy number loss See cases [RCV000510351] Chr22:46543160..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48556939-51197838)x1 copy number loss See cases [RCV000511340] Chr22:48556939..51197838 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50716021-51157531)x3 copy number gain See cases [RCV000511797] Chr22:50716021..51157531 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.32-13.33(chr22:49305443-51197838)x1 copy number loss See cases [RCV000511993] Chr22:49305443..51197838 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1 copy number loss See cases [RCV000511220] Chr22:45261208..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 copy number loss See cases [RCV000511256] Chr22:43050743..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1 copy number loss See cases [RCV000511015] Chr22:43875989..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_012324.6(MAPK8IP2):c.182C>G (p.Ser61Cys) single nucleotide variant not specified [RCV004296904] Chr22:50603233 [GRCh38]
Chr22:51041662 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264) copy number loss Phelan-McDermid syndrome [RCV000767671] Chr22:48533991..51178264 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50145416-51197838)x1 copy number loss See cases [RCV000512145] Chr22:50145416..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46780978-51183840)x1 copy number loss not provided [RCV000684522] Chr22:46780978..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46768838-51197838)x1 copy number loss not provided [RCV000684523] Chr22:46768838..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1 copy number loss not provided [RCV000684524] Chr22:46667744..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1 copy number loss not provided [RCV000684525] Chr22:45994305..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1 copy number loss not provided [RCV000684526] Chr22:44789956..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 copy number loss not provided [RCV000684527] Chr22:43320284..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 copy number loss not provided [RCV000684528] Chr22:43111156..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 copy number loss not provided [RCV000684529] Chr22:42955616..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50190425-51183767)x1 copy number loss not provided [RCV000684487] Chr22:50190425..51183767 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50973975-51183840)x1 copy number loss not provided [RCV000684461] Chr22:50973975..51183840 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50613566-51197838)x1 copy number loss not provided [RCV000684479] Chr22:50613566..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50134203-51183840)x1 copy number loss not provided [RCV000684488] Chr22:50134203..51183840 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47782346-51243435)x1 copy number loss not provided [RCV000742061] Chr22:47782346..51243435 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48125251-51211392)x1 copy number loss not provided [RCV000742062] Chr22:48125251..51211392 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:49313561-51195728)x1 copy number loss not provided [RCV000742071] Chr22:49313561..51195728 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50627704-51211392)x1 copy number loss not provided [RCV000742097] Chr22:50627704..51211392 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50921022-51054264)x3 copy number gain not provided [RCV000742112] Chr22:50921022..51054264 [GRCh37]
Chr22:22q13.33		 benign
GRCh37/hg19 22q13.33(chr22:50923113-51055900)x3 copy number gain not provided [RCV000742113] Chr22:50923113..51055900 [GRCh37]
Chr22:22q13.33		 benign
GRCh37/hg19 22q13.33(chr22:51024308-51243435)x1 copy number loss not provided [RCV000742123] Chr22:51024308..51243435 [GRCh37]
Chr22:22q13.33		 likely pathogenic
GRCh37/hg19 22q13.33(chr22:51039778-51045433)x3 copy number gain not provided [RCV000742124] Chr22:51039778..51045433 [GRCh37]
Chr22:22q13.33		 benign
GRCh37/hg19 22q13.33(chr22:51039778-51054264)x3 copy number gain not provided [RCV000742125] Chr22:51039778..51054264 [GRCh37]
Chr22:22q13.33		 benign
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50966042-51090760)x1 copy number loss not provided [RCV001007196] Chr22:50966042..51090760 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:50893448-51060012)x3 copy number gain not provided [RCV001007195] Chr22:50893448..51060012 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:49648935-51197838)x3 copy number gain not provided [RCV001007194] Chr22:49648935..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48454469-51144947)x3 copy number gain not provided [RCV001007507] Chr22:48454469..51144947 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48528536-51183840)x1 copy number loss not provided [RCV001007508] Chr22:48528536..51183840 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
NM_012324.6(MAPK8IP2):c.1158G>C (p.Pro386=) single nucleotide variant not provided [RCV000961783] Chr22:50604457 [GRCh38]
Chr22:51042885 [GRCh37]
Chr22:22q13.33		 benign
NM_012324.6(MAPK8IP2):c.133G>T (p.Gly45Cys) single nucleotide variant not specified [RCV004307720] Chr22:50601856 [GRCh38]
Chr22:51040285 [GRCh37]
Chr22:22q13.33		 uncertain significance
Single allele deletion not provided [RCV000768459] Chr22:46794432..51139778 [GRCh37]
Chr22:22q13.31-13.33		 likely pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3 copy number gain not provided [RCV000849204] Chr22:46432744..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48223839-51197725)x1 copy number loss not provided [RCV001007506] Chr22:48223839..51197725 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47740201-51197838)x3 copy number gain not provided [RCV000846659] Chr22:47740201..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1 copy number loss not provided [RCV002472623] Chr22:44178749..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1 copy number loss not provided [RCV002473520] Chr22:45889148..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.10:g.(?_50964189)_(51066217_?)del deletion not provided [RCV001031919] Chr22:50964189..51066217 [GRCh37]
Chr22:22q13.33		 pathogenic
NC_000022.11:g.48500344_50780581del deletion Phelan-McDermid syndrome [RCV001254361] Chr22:48500344..50780581 [GRCh38]
Chr22:22q13.32-13.33		 pathogenic
NC_000022.11:g.47447433_50806138del deletion Phelan-McDermid syndrome [RCV001254362] Chr22:47447433..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.48500337_50739785del deletion Phelan-McDermid syndrome [RCV001254365] Chr22:48500337..50739785 [GRCh38]
Chr22:22q13.32-13.33		 pathogenic
NC_000022.11:g.45819932_50737806del deletion Phelan-McDermid syndrome [RCV001254366] Chr22:45819932..50737806 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.47823120_50759410del deletion Phelan-McDermid syndrome [RCV001254355] Chr22:47823120..50759410 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.46269281_50740560del deletion Phelan-McDermid syndrome [RCV001254358] Chr22:46269281..50740560 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.45708330_50737364del deletion Phelan-McDermid syndrome [RCV001254359] Chr22:45708330..50737364 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.46467175_50759338del deletion Phelan-McDermid syndrome [RCV001254367] Chr22:46467175..50759338 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.47705262_50739836del deletion Phelan-McDermid syndrome [RCV001254360] Chr22:47705262..50739836 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.49181210_50759297del deletion Phelan-McDermid syndrome [RCV001254368] Chr22:49181210..50759297 [GRCh38]
Chr22:22q13.33		 pathogenic
NC_000022.11:g.44245760_50806121del deletion Phelan-McDermid syndrome [RCV001254369] Chr22:44245760..50806121 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.44702479_50806138del deletion Phelan-McDermid syndrome [RCV001254370] Chr22:44702479..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.46489644_50806138del deletion Phelan-McDermid syndrome [RCV001254363] Chr22:46489644..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.43032129_50739836del deletion Phelan-McDermid syndrome [RCV001254356] Chr22:43032129..50739836 [GRCh38]
Chr22:22q13.2-13.33		 pathogenic
NC_000022.11:g.47513236_50806138del deletion Phelan-McDermid syndrome [RCV001254357] Chr22:47513236..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.43802117_50806121del deletion Phelan-McDermid syndrome [RCV001254364] Chr22:43802117..50806121 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50791825-51181078)x1 copy number loss not provided [RCV001258791] Chr22:50791825..51181078 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50990475-51165799)x3 copy number gain not provided [RCV001258793] Chr22:50990475..51165799 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50099570-51187115)x1 copy number loss not provided [RCV001537924] Chr22:50099570..51187115 [GRCh37]
Chr22:22q13.33		 pathogenic
NC_000022.10:g.(?_50297466)_(51066227_?)del deletion ALG12-congenital disorder of glycosylation [RCV001384242] Chr22:50297466..51066227 [GRCh37]
Chr22:22q13.33		 pathogenic
Single allele duplication Chromosome 22q13 duplication syndrome [RCV002280361] Chr22:49883237..50740457 [GRCh38]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1 copy number loss Phelan-McDermid syndrome [RCV001801178] Chr22:42321321..51244066 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47554026-51186813)x1 copy number loss not provided [RCV001795845] Chr22:47554026..51186813 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50984491-51179298)x1 copy number loss not provided [RCV001795539] Chr22:50984491..51179298 [GRCh37]
Chr22:22q13.33		 pathogenic
NC_000022.10:g.(?_50167881)_(51066207_?)dup duplication ALG12-congenital disorder of glycosylation [RCV001950618] Chr22:50167881..51066207 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:47567951-51183840)x1 copy number loss not provided [RCV001832912] Chr22:47567951..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49729747-51197838) copy number loss not specified [RCV002052764] Chr22:49729747..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838) copy number loss not specified [RCV002052757] Chr22:42972719..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NC_000022.10:g.(?_50502853)_(51066207_?)dup duplication not provided [RCV001944250] Chr22:50502853..51066207 [GRCh37]
Chr22:22q13.33		 uncertain significance
NC_000022.10:g.(?_50906785)_(51066207_?)dup duplication Metachromatic leukodystrophy [RCV001900243] Chr22:50906785..51066207 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:49602454-51183869) copy number loss Phelan-McDermid syndrome [RCV002280637] Chr22:49602454..51183869 [GRCh37]
Chr22:22q13.33		 pathogenic
NC_000022.10:g.(?_50167881)_(51066207_?)del deletion Metachromatic leukodystrophy [RCV003111291]|not provided [RCV003111290] Chr22:50167881..51066207 [GRCh37]
Chr22:22q13.33		 pathogenic|no classifications from unflagged records
NC_000022.10:g.(?_50297486)_(51066207_?)del deletion not provided [RCV003116314] Chr22:50297486..51066207 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1 copy number loss not provided [RCV002472642] Chr22:45977448..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1 copy number loss not provided [RCV002472654] Chr22:45977415..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3 copy number gain not provided [RCV002468433] Chr22:43436847..51188164 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1 copy number loss not provided [RCV002473583] Chr22:44390702..51137629 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_012324.6(MAPK8IP2):c.490G>A (p.Ala164Thr) single nucleotide variant not specified [RCV004224740] Chr22:50603668 [GRCh38]
Chr22:51042097 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.370C>T (p.Leu124Phe) single nucleotide variant not specified [RCV004228154] Chr22:50603421 [GRCh38]
Chr22:51041850 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.641C>G (p.Pro214Arg) single nucleotide variant not specified [RCV004167644] Chr22:50603940 [GRCh38]
Chr22:51042369 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.209C>A (p.Pro70His) single nucleotide variant not specified [RCV004124602] Chr22:50603260 [GRCh38]
Chr22:51041689 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.307G>A (p.Glu103Lys) single nucleotide variant not specified [RCV004115786] Chr22:50603358 [GRCh38]
Chr22:51041787 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.194C>T (p.Ser65Leu) single nucleotide variant not specified [RCV004200486] Chr22:50603245 [GRCh38]
Chr22:51041674 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.1259C>T (p.Pro420Leu) single nucleotide variant not specified [RCV004107262] Chr22:50604558 [GRCh38]
Chr22:51042986 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.727C>T (p.Arg243Cys) single nucleotide variant not specified [RCV004123056] Chr22:50604026 [GRCh38]
Chr22:51042455 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.2147C>T (p.Thr716Ile) single nucleotide variant not specified [RCV004103477] Chr22:50606680 [GRCh38]
Chr22:51045108 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.527C>T (p.Pro176Leu) single nucleotide variant not specified [RCV004213425] Chr22:50603705 [GRCh38]
Chr22:51042134 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.607G>T (p.Gly203Cys) single nucleotide variant not specified [RCV004155454] Chr22:50603906 [GRCh38]
Chr22:51042335 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.2129C>T (p.Ala710Val) single nucleotide variant not specified [RCV004187433] Chr22:50606662 [GRCh38]
Chr22:51045090 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.583G>A (p.Gly195Arg) single nucleotide variant not specified [RCV004222469] Chr22:50603882 [GRCh38]
Chr22:51042311 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.679G>A (p.Gly227Ser) single nucleotide variant not specified [RCV004085122] Chr22:50603978 [GRCh38]
Chr22:51042407 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.32C>T (p.Ser11Phe) single nucleotide variant not specified [RCV004318179] Chr22:50600850 [GRCh38]
Chr22:51039279 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1 copy number loss Chromosome 22q13 duplication syndrome [RCV003329540] Chr22:50014114..51244066 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1 copy number loss Phelan-McDermid syndrome [RCV003327722] Chr22:49757859..50740457 [GRCh38]
Chr22:22q13.33		 pathogenic
NM_012324.6(MAPK8IP2):c.467G>A (p.Gly156Glu) single nucleotide variant not specified [RCV004348830] Chr22:50603645 [GRCh38]
Chr22:51042074 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3 copy number gain not provided [RCV003485247] Chr22:45657164..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50661573-51166665)x3 copy number gain not provided [RCV003485250] Chr22:50661573..51166665 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:50797048-51044946)x3 copy number gain not provided [RCV003485251] Chr22:50797048..51044946 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1 copy number loss not provided [RCV003483399] Chr22:45611226..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1 copy number loss not provided [RCV003457366] Chr22:43820992..51218654 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:51044719-51183834)x1 copy number loss not specified [RCV003986173] Chr22:51044719..51183834 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1 copy number loss not specified [RCV003986178] Chr22:44034281..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1 copy number loss not specified [RCV003986180] Chr22:43107363..51156692 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48218869-51197838)x1 copy number loss not specified [RCV003986172] Chr22:48218869..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329) copy number loss Phelan-McDermid syndrome [RCV003986080] Chr22:44549957..50789329 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1 copy number loss not specified [RCV003986171] Chr22:44502872..51183871 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50974309-51197838)x3 copy number gain not specified [RCV003986193] Chr22:50974309..51197838 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:49434634-51197838)x1 copy number loss not specified [RCV003986170] Chr22:49434634..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1 copy number loss not provided [RCV003885499] Chr22:49479980..51304566 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1 copy number loss not provided [RCV003885498] Chr22:49103529..51220722 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
NM_012324.6(MAPK8IP2):c.2433C>G (p.His811Gln) single nucleotide variant not specified [RCV004408687] Chr22:50610737 [GRCh38]
Chr22:51049165 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.274G>A (p.Asp92Asn) single nucleotide variant not specified [RCV004408688] Chr22:50603325 [GRCh38]
Chr22:51041754 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.413C>A (p.Pro138His) single nucleotide variant not specified [RCV004408689] Chr22:50603464 [GRCh38]
Chr22:51041893 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.475G>C (p.Asp159His) single nucleotide variant not specified [RCV004408690] Chr22:50603653 [GRCh38]
Chr22:51042082 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.485G>A (p.Arg162His) single nucleotide variant not specified [RCV004408691] Chr22:50603663 [GRCh38]
Chr22:51042092 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.2330C>G (p.Pro777Arg) single nucleotide variant not specified [RCV004408684] Chr22:50610238 [GRCh38]
Chr22:51048666 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.2330C>T (p.Pro777Leu) single nucleotide variant not specified [RCV004408685] Chr22:50610238 [GRCh38]
Chr22:51048666 [GRCh37]
Chr22:22q13.33		 uncertain significance
NC_000022.10:g.(?_51020158)_(51065854_?)del deletion Metachromatic leukodystrophy [RCV004582335] Chr22:51020158..51065854 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_012324.6(MAPK8IP2):c.174C>A (p.Asp58Glu) single nucleotide variant not specified [RCV004636545] Chr22:50603225 [GRCh38]
Chr22:51041654 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.184C>A (p.Leu62Met) single nucleotide variant not specified [RCV004643016] Chr22:50603235 [GRCh38]
Chr22:51041664 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.424C>T (p.Arg142Cys) single nucleotide variant not specified [RCV004940644] Chr22:50603475 [GRCh38]
Chr22:51041904 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:50489358-51121377)x3 copy number gain not provided [RCV004819665] Chr22:50489358..51121377 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:50893449-51197838)x3 copy number gain not provided [RCV004819666] Chr22:50893449..51197838 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.433A>G (p.Thr145Ala) single nucleotide variant not specified [RCV005375535] Chr22:50603484 [GRCh38]
Chr22:51041913 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.226G>A (p.Asp76Asn) single nucleotide variant not specified [RCV005375536] Chr22:50603277 [GRCh38]
Chr22:51041706 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.314A>G (p.Asp105Gly) single nucleotide variant not specified [RCV005371454] Chr22:50603365 [GRCh38]
Chr22:51041794 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_012324.6(MAPK8IP2):c.331G>A (p.Gly111Arg) single nucleotide variant not specified [RCV005371455] Chr22:50603382 [GRCh38]
Chr22:51041811 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:50894560-51197838)x3 copy number gain not provided [RCV005430875] Chr22:50894560..51197838 [GRCh37]
Chr22:22q13.33		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:4645
Count of miRNA genes:877
Interacting mature miRNAs:1033
Transcripts:ENST00000008876, ENST00000329492, ENST00000341339, ENST00000399908, ENST00000399912, ENST00000442429
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597106646GWAS1202720_Hcytokine measurement QTL GWAS1202720 (human)0.000005cytokine amount (VT:0008713)blood cytokine measurement (CMO:0001924)225060776150607762Human
628699996GWAS2608225_Harylsulfatase A measurement QTL GWAS2608225 (human)6e-12arylsulfatase A measurement225060291350602914Human
617132589GWAS2150088_Harylsulfatase A measurement QTL GWAS2150088 (human)6e-12arylsulfatase A measurement225060291350602914Human
616553562GWAS1950145_Harylsulfatase A measurement QTL GWAS1950145 (human)6e-12arylsulfatase A measurement225060291350602914Human
628699697GWAS2607926_Harylsulfatase A measurement QTL GWAS2607926 (human)2e-68arylsulfatase A measurement225060776150607762Human
616495349GWAS1891932_Hblood protein amount QTL GWAS1891932 (human)0.0000001blood protein amount225060390750603908Human
407217134GWAS866110_Hcytokine measurement QTL GWAS866110 (human)0.000005cytokine measurement225060776150607762Human
597990952GWAS1710251_Hhip circumference QTL GWAS1710251 (human)0.000007hip circumference225060211750602118Human
616553555GWAS1950138_Harylsulfatase A measurement QTL GWAS1950138 (human)2e-68arylsulfatase A measurement225060776150607762Human
406913005GWAS561981_Hhip circumference QTL GWAS561981 (human)0.000007hip circumference225060211750602118Human
597070267GWAS1166341_Hhip circumference QTL GWAS1166341 (human)0.000007hip circumference225060211750602118Human
406981420GWAS630396_Hgut microbiome measurement QTL GWAS630396 (human)0.0000004gut microbiome measurement225060738850607389Human
597101159GWAS1197233_Hgut microbiome measurement QTL GWAS1197233 (human)0.0000004gut microbiome measurement225060738850607389Human
616379660GWAS1859902_Hobsolete_blood protein measurement QTL GWAS1859902 (human)0.0000001obsolete_blood protein measurement225060390750603908Human
597033743GWAS1129817_Hblood protein measurement QTL GWAS1129817 (human)0.0000001blood protein measurement225060390750603908Human
407115038GWAS764014_Hblood protein measurement QTL GWAS764014 (human)0.0000001blood protein measurement225060390750603908Human

Markers in Region
G65735  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372251,045,911 - 51,046,268UniSTSGRCh37
Build 362249,392,777 - 49,393,134RGDNCBI36
Celera2234,921,956 - 34,922,313RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,936,603 - 33,936,960UniSTS
SHGC-2955  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372251,049,781 - 51,049,966UniSTSGRCh37
Build 362249,396,647 - 49,396,832RGDNCBI36
Celera2234,925,826 - 34,926,011RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,940,473 - 33,940,658UniSTS
GeneMap99-G3 RH Map221543.0UniSTS


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 2437 2788 2246 4970 1724 2346 5 622 1903 462 2268 7241 6412 52 3734 1 850 1741 1614 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF136382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF218778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI005170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI066766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL021708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ270598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU732443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB483256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF573648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U79261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000008876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,603,133 - 50,613,981 (+)Ensembl
Ensembl Acc Id: ENST00000329492   ⟹   ENSP00000330572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,600,793 - 50,613,978 (+)Ensembl
Ensembl Acc Id: ENST00000878405   ⟹   ENSP00000548464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,600,750 - 50,612,022 (+)Ensembl
Ensembl Acc Id: ENST00000878406   ⟹   ENSP00000548465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,600,691 - 50,611,549 (+)Ensembl
Ensembl Acc Id: ENST00000878407   ⟹   ENSP00000548466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,600,793 - 50,611,547 (+)Ensembl
Ensembl Acc Id: ENST00000926247   ⟹   ENSP00000596306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,600,677 - 50,611,549 (+)Ensembl
Ensembl Acc Id: ENST00000952231   ⟹   ENSP00000622290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,600,677 - 50,611,548 (+)Ensembl
Ensembl Acc Id: ENST00000952232   ⟹   ENSP00000622291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,600,679 - 50,611,549 (+)Ensembl
Ensembl Acc Id: ENST00000952233   ⟹   ENSP00000622292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,600,694 - 50,611,548 (+)Ensembl
Ensembl Acc Id: ENST00000952234   ⟹   ENSP00000622293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,600,769 - 50,611,548 (+)Ensembl
Ensembl Acc Id: ENST00000952235   ⟹   ENSP00000622294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,600,791 - 50,611,548 (+)Ensembl
Ensembl Acc Id: ENST00000952236   ⟹   ENSP00000622295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,600,813 - 50,611,550 (+)Ensembl
RefSeq Acc Id: NM_012324   ⟹   NP_036456
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,600,793 - 50,613,978 (+)NCBI
GRCh372251,039,131 - 51,049,979 (+)RGD
Build 362249,385,997 - 49,396,845 (+)NCBI Archive
Celera2234,915,169 - 34,926,024 (+)RGD
HuRef2233,930,149 - 33,940,671 (+)ENTREZGENE
CHM1_12250,997,852 - 51,008,740 (+)NCBI
T2T-CHM13v2.02251,111,308 - 51,124,536 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530679   ⟹   XP_011528981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,600,793 - 50,613,978 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530680   ⟹   XP_011528982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,600,793 - 50,613,978 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530681   ⟹   XP_011528983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,600,793 - 50,613,978 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054325363   ⟹   XP_054181338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02251,111,308 - 51,124,536 (+)NCBI
RefSeq Acc Id: XM_054325364   ⟹   XP_054181339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02251,111,308 - 51,124,536 (+)NCBI
RefSeq Acc Id: XM_054325365   ⟹   XP_054181340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02251,111,308 - 51,124,536 (+)NCBI
RefSeq Acc Id: NP_036456   ⟸   NM_012324
- UniProtKB: Q9NZ59 (UniProtKB/Swiss-Prot),   Q99771 (UniProtKB/Swiss-Prot),   Q96G62 (UniProtKB/Swiss-Prot),   Q9UKQ4 (UniProtKB/Swiss-Prot),   Q13387 (UniProtKB/Swiss-Prot),   Q86VW5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528981   ⟸   XM_011530679
- Peptide Label: isoform X1
- UniProtKB: Q86VW5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528982   ⟸   XM_011530680
- Peptide Label: isoform X2
- UniProtKB: Q86VW5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528983   ⟸   XM_011530681
- Peptide Label: isoform X3
- UniProtKB: Q86VW5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000330572   ⟸   ENST00000329492
RefSeq Acc Id: XP_054181338   ⟸   XM_054325363
- Peptide Label: isoform X1
- UniProtKB: Q86VW5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181339   ⟸   XM_054325364
- Peptide Label: isoform X2
- UniProtKB: Q86VW5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181340   ⟸   XM_054325365
- Peptide Label: isoform X3
- UniProtKB: Q86VW5 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000622293   ⟸   ENST00000952234
Ensembl Acc Id: ENSP00000548464   ⟸   ENST00000878405
Ensembl Acc Id: ENSP00000548465   ⟸   ENST00000878406
Ensembl Acc Id: ENSP00000548466   ⟸   ENST00000878407
Ensembl Acc Id: ENSP00000622294   ⟸   ENST00000952235
Ensembl Acc Id: ENSP00000622295   ⟸   ENST00000952236
Ensembl Acc Id: ENSP00000596306   ⟸   ENST00000926247
Ensembl Acc Id: ENSP00000622290   ⟸   ENST00000952231
Ensembl Acc Id: ENSP00000622291   ⟸   ENST00000952232
Ensembl Acc Id: ENSP00000622292   ⟸   ENST00000952233
Protein Domains
PID   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13387-F1-model_v2 AlphaFold Q13387 1-824 view protein structure

Promoters
RGD ID:6800111
Promoter ID:HG_KWN:43411
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour
Transcripts:ENST00000341339,   ENST00000399912,   UC003BMX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362249,385,254 - 49,385,754 (+)MPROMDB
RGD ID:13604592
Promoter ID:EPDNEW_H28480
Type:initiation region
Name:MAPK8IP2_1
Description:mitogen-activated protein kinase 8 interacting protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28481  EPDNEW_H28482  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,600,587 - 50,600,647EPDNEW
RGD ID:13604594
Promoter ID:EPDNEW_H28481
Type:initiation region
Name:MAPK8IP2_2
Description:mitogen-activated protein kinase 8 interacting protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28480  EPDNEW_H28482  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,600,795 - 50,600,855EPDNEW
RGD ID:13604596
Promoter ID:EPDNEW_H28482
Type:multiple initiation site
Name:MAPK8IP2_3
Description:mitogen-activated protein kinase 8 interacting protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28480  EPDNEW_H28481  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,603,148 - 50,603,208EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6883 AgrOrtholog
COSMIC MAPK8IP2 COSMIC
Ensembl Genes ENSG00000008735 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000329492 ENTREZGENE
  ENST00000329492.6 UniProtKB/Swiss-Prot
  ENST00000878405 ENTREZGENE
  ENST00000878406 ENTREZGENE
  ENST00000878407 ENTREZGENE
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot
  SH3 Domains UniProtKB/Swiss-Prot
GTEx ENSG00000008735 GTEx
HGNC ID HGNC:6883 ENTREZGENE
Human Proteome Map MAPK8IP2 Human Proteome Map
InterPro JIP1_scaffold UniProtKB/Swiss-Prot
  JIP2_SH3 UniProtKB/Swiss-Prot
  PH-like_dom_sf UniProtKB/Swiss-Prot
  PTB/PI_dom UniProtKB/Swiss-Prot
  SH3_domain UniProtKB/Swiss-Prot
KEGG Report hsa:23542 UniProtKB/Swiss-Prot
NCBI Gene 23542 ENTREZGENE
OMIM 607755 OMIM
PANTHER C-JUN-AMINO-TERMINAL KINASE-INTERACTING PROTEIN 2 UniProtKB/Swiss-Prot
  JNK-INTERACTING PROTEIN 1-LIKE PROTEIN UniProtKB/Swiss-Prot
Pfam PID UniProtKB/Swiss-Prot
  SH3_9 UniProtKB/Swiss-Prot
PharmGKB PA30627 PharmGKB
PROSITE PID UniProtKB/Swiss-Prot
  SH3 UniProtKB/Swiss-Prot
SMART PTB UniProtKB/Swiss-Prot
  SH3 UniProtKB/Swiss-Prot
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot
UniProt JIP2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q86VW5 ENTREZGENE, UniProtKB/TrEMBL
  Q96G62 ENTREZGENE
  Q99771 ENTREZGENE
  Q9NZ59 ENTREZGENE
  Q9UKQ4 ENTREZGENE
UniProt Secondary Q96G62 UniProtKB/Swiss-Prot
  Q99771 UniProtKB/Swiss-Prot
  Q9NZ59 UniProtKB/Swiss-Prot
  Q9UKQ4 UniProtKB/Swiss-Prot