LMTK2 (lemur tyrosine kinase 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: LMTK2 (lemur tyrosine kinase 2) Homo sapiens
Analyze
Symbol: LMTK2
Name: lemur tyrosine kinase 2
RGD ID: 1315801
HGNC Page HGNC
Description: Enables myosin VI binding activity; protein phosphatase inhibitor activity; and protein serine/threonine kinase activity. Involved in several processes, including early endosome to late endosome transport; protein phosphorylation; and transferrin transport. Located in Golgi apparatus; endosome; and perinuclear region of cytoplasm. Is integral component of membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AATYK2; apoptosis-associated tyrosine kinase 2; brain-enriched kinase; BREK; CDK5/p35-regulated kinase; cprk; cyclin-dependent kinase 5/p35-regulated kinase; FLJ46659; hBREK; KIAA1079; kinase phosphatase inhibitor 2; kinase/phosphatase/inhibitor 2; KPI-2; KPI2; LMR2; PPP1R100; serine/threonine-protein kinase KPI-2; serine/threonine-protein kinase LMTK2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl798,106,862 - 98,209,638 (+)EnsemblGRCh38hg38GRCh38
GRCh38798,106,862 - 98,209,638 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37797,736,174 - 97,838,950 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36797,574,133 - 97,673,537 (+)NCBINCBI36hg18NCBI36
Build 34797,380,847 - 97,480,252NCBI
Celera792,430,124 - 92,532,844 (+)NCBI
Cytogenetic Map7q21.3NCBI
HuRef792,337,056 - 92,439,783 (+)NCBIHuRef
CHM1_1797,666,229 - 97,768,960 (+)NCBICHM1_1
CRA_TCAGchr7v2797,061,094 - 97,163,823 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:10470851   PMID:12393858   PMID:12477932   PMID:12690205   PMID:12832520   PMID:12853948   PMID:14702039   PMID:15005709   PMID:16428298   PMID:16887929   PMID:17081983   PMID:18029400  
PMID:18264097   PMID:18429820   PMID:18794092   PMID:19318432   PMID:19366831   PMID:19423541   PMID:19549807   PMID:19767753   PMID:19855435   PMID:19866473   PMID:19900942   PMID:19902474  
PMID:20450899   PMID:20460480   PMID:20564319   PMID:20569440   PMID:20878950   PMID:21071540   PMID:21382349   PMID:21873635   PMID:22220831   PMID:23080069   PMID:23114966   PMID:24366813  
PMID:24727471   PMID:26008968   PMID:26186194   PMID:26496610   PMID:26559041   PMID:27880917   PMID:28040547   PMID:28065597   PMID:28330616   PMID:28514442   PMID:29117863   PMID:29467281  
PMID:29507755   PMID:29509190   PMID:30344098   PMID:31068217   PMID:31395338   PMID:31722712   PMID:31748522   PMID:34079125  


Genomics

Comparative Map Data
LMTK2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl798,106,862 - 98,209,638 (+)EnsemblGRCh38hg38GRCh38
GRCh38798,106,862 - 98,209,638 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37797,736,174 - 97,838,950 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36797,574,133 - 97,673,537 (+)NCBINCBI36hg18NCBI36
Build 34797,380,847 - 97,480,252NCBI
Celera792,430,124 - 92,532,844 (+)NCBI
Cytogenetic Map7q21.3NCBI
HuRef792,337,056 - 92,439,783 (+)NCBIHuRef
CHM1_1797,666,229 - 97,768,960 (+)NCBICHM1_1
CRA_TCAGchr7v2797,061,094 - 97,163,823 (+)NCBI
Lmtk2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395144,037,179 - 144,125,026 (+)NCBIGRCm39mm39
GRCm39 Ensembl5144,037,254 - 144,125,022 (+)Ensembl
GRCm385144,100,361 - 144,188,208 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5144,100,436 - 144,188,204 (+)EnsemblGRCm38mm10GRCm38
MGSCv375144,861,305 - 144,949,073 (+)NCBIGRCm37mm9NCBIm37
MGSCv365144,353,963 - 144,441,731 (+)NCBImm8
Celera5141,085,346 - 141,172,582 (+)NCBICelera
Cytogenetic Map5G2NCBI
Lmtk2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21210,426,772 - 10,508,750 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1210,426,777 - 10,508,750 (-)Ensembl
Rnor_6.01212,409,876 - 12,546,111 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1212,409,876 - 12,546,111 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01214,461,531 - 14,592,856 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41210,754,175 - 10,836,896 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1212,225,898 - 12,307,097 (-)NCBICelera
Cytogenetic Map12p11NCBI
Lmtk2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546014,012,363 - 14,098,542 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546014,012,047 - 14,101,969 (+)NCBIChiLan1.0ChiLan1.0
LMTK2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.17103,572,011 - 103,672,453 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7103,572,011 - 103,672,453 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v076,312,634 - 6,415,332 (-)NCBIMhudiblu_PPA_v0panPan3
LMTK2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1611,118,110 - 11,201,624 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl611,118,635 - 11,201,460 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha612,743,572 - 12,827,412 (-)NCBI
ROS_Cfam_1.0611,117,646 - 11,201,655 (-)NCBI
UMICH_Zoey_3.1610,986,346 - 11,070,342 (-)NCBI
UNSW_CanFamBas_1.0610,966,165 - 11,050,164 (-)NCBI
UU_Cfam_GSD_1.0611,200,210 - 11,284,268 (-)NCBI
Lmtk2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344139,193,757 - 139,258,321 (-)NCBI
SpeTri2.0NW_004936750665,410 - 751,529 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LMTK2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl35,322,255 - 5,409,178 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.135,322,238 - 5,409,223 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.235,428,088 - 5,468,507 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LMTK2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12814,961,397 - 15,067,423 (-)NCBI
ChlSab1.1 Ensembl2814,959,280 - 15,067,364 (-)Ensembl
Vero_WHO_p1.0NW_0236660701,009,422 - 1,118,107 (+)NCBI
Lmtk2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474031,581,185 - 31,669,852 (+)NCBI

Position Markers
D12S335  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371268,129,535 - 68,129,789UniSTSGRCh37
GRCh371268,129,536 - 68,129,642UniSTSGRCh37
Build 361266,415,803 - 66,415,909RGDNCBI36
Celera1267,793,545 - 67,793,651RGD
Celera1267,793,544 - 67,793,798UniSTS
Cytogenetic Map7q21.3UniSTS
HuRef1265,180,449 - 65,180,551UniSTS
HuRef1265,180,448 - 65,180,698UniSTS
HuRef792,359,320 - 92,360,606UniSTS
Marshfield Genetic Map1278.14UniSTS
Marshfield Genetic Map1278.14RGD
Genethon Genetic Map1278.8UniSTS
TNG Radiation Hybrid Map1232297.0UniSTS
deCODE Assembly Map1282.47UniSTS
Stanford-G3 RH Map122851.0UniSTS
GeneMap99-GB4 RH Map12288.79UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map12508.7UniSTS
GeneMap99-G3 RH Map122797.0UniSTS
RH46467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37797,786,768 - 97,786,920UniSTSGRCh37
Build 36797,624,704 - 97,624,856RGDNCBI36
Celera792,480,669 - 92,480,821RGD
Cytogenetic Map7q21.3UniSTS
HuRef792,387,630 - 92,387,782UniSTS
CRA_TCAGchr7v2797,111,647 - 97,111,799UniSTS
GeneMap99-GB4 RH Map7509.29UniSTS
RH103935  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37797,835,195 - 97,835,359UniSTSGRCh37
Build 36797,673,131 - 97,673,295RGDNCBI36
Celera792,529,096 - 92,529,260RGD
Cytogenetic Map7q21.3UniSTS
HuRef792,436,034 - 92,436,198UniSTS
CRA_TCAGchr7v2797,160,074 - 97,160,238UniSTS
GeneMap99-GB4 RH Map7509.29UniSTS
RH118588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37797,832,574 - 97,832,878UniSTSGRCh37
Build 36797,670,510 - 97,670,814RGDNCBI36
Celera792,526,475 - 92,526,779RGD
Cytogenetic Map7q21.3UniSTS
HuRef792,433,413 - 92,433,717UniSTS
CRA_TCAGchr7v2797,157,453 - 97,157,757UniSTS
SHGC-149626  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37797,797,833 - 97,798,173UniSTSGRCh37
Build 36797,635,769 - 97,636,109RGDNCBI36
Celera792,491,734 - 92,492,074RGD
Cytogenetic Map7q21.3UniSTS
HuRef792,398,694 - 92,399,034UniSTS
CRA_TCAGchr7v2797,122,712 - 97,123,052UniSTS
SGC33213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37797,741,926 - 97,742,052UniSTSGRCh37
Build 36797,579,862 - 97,579,988RGDNCBI36
Celera792,435,853 - 92,435,979RGD
Cytogenetic Map7q21.3UniSTS
HuRef792,342,785 - 92,342,911UniSTS
CRA_TCAGchr7v2797,066,823 - 97,066,949UniSTS
GeneMap99-GB4 RH Map7513.1UniSTS
Whitehead-RH Map7469.3UniSTS
NCBI RH Map71062.2UniSTS
A004H27  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37797,838,782 - 97,838,884UniSTSGRCh37
Build 36797,676,718 - 97,676,820RGDNCBI36
Celera792,532,681 - 92,532,783RGD
Cytogenetic Map7q21.3UniSTS
HuRef792,439,620 - 92,439,722UniSTS
CRA_TCAGchr7v2797,163,660 - 97,163,762UniSTS
GeneMap99-GB4 RH Map7510.76UniSTS
NCBI RH Map71073.1UniSTS
D15S1390  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map7p13UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1889
Count of miRNA genes:1030
Interacting mature miRNAs:1257
Transcripts:ENST00000297293, ENST00000493372
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.


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
High
Medium 589 512 991 171 516 93 2019 338 1699 219 798 1243 92 48 1148 3
Low 1847 2466 733 451 1425 372 2337 1850 2029 200 655 369 81 1156 1640 1
Below cutoff 2 11 1 7 6 5 5 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB029002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW183515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY130988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC080576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE049530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF001752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM172505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS542494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000297293   ⟹   ENSP00000297293
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl798,106,862 - 98,209,638 (+)Ensembl
RefSeq Acc Id: ENST00000493372
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl798,126,565 - 98,151,455 (+)Ensembl
RefSeq Acc Id: NM_014916   ⟹   NP_055731
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38798,106,862 - 98,209,638 (+)NCBI
GRCh37797,736,197 - 97,838,945 (+)ENTREZGENE
Build 36797,574,133 - 97,673,537 (+)NCBI Archive
HuRef792,337,056 - 92,439,783 (+)ENTREZGENE
CHM1_1797,666,229 - 97,768,960 (+)NCBI
CRA_TCAGchr7v2797,061,094 - 97,163,823 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_011515981   ⟹   XP_011514283
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38798,106,868 - 98,209,636 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055731   ⟸   NM_014916
- Peptide Label: precursor
- UniProtKB: Q8IWU2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011514283   ⟸   XM_011515981
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000297293   ⟸   ENST00000297293
Protein Domains
Protein kinase

Promoters
RGD ID:6805870
Promoter ID:HG_KWN:58734
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000334560
Position:
Human AssemblyChrPosition (strand)Source
Build 36797,573,871 - 97,574,371 (+)MPROMDB
RGD ID:7211159
Promoter ID:EPDNEW_H11326
Type:initiation region
Name:LMTK2_1
Description:lemur tyrosine kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38798,106,872 - 98,106,932EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
NM_014916.3(LMTK2):c.4024C>T (p.Pro1342Ser) single nucleotide variant Malignant melanoma [RCV000068026] Chr7:98194489 [GRCh38]
Chr7:97823801 [GRCh37]
Chr7:97661737 [NCBI36]
Chr7:7q21.3
not provided
NM_014916.3(LMTK2):c.4108-984G>A single nucleotide variant Lung cancer [RCV000106723] Chr7:98202590 [GRCh38]
Chr7:97831902 [GRCh37]
Chr7:7q21.3
uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
NM_014916.4(LMTK2):c.651_652del (p.Cys217_Asp218delinsTer) microsatellite Malignant tumor of prostate [RCV000205696] Chr7:98159417..98159418 [GRCh38]
Chr7:97788729..97788730 [GRCh37]
Chr7:7q21.3
uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q21.3(chr7:97003103-97868063)x3 copy number gain See cases [RCV000511595] Chr7:97003103..97868063 [GRCh37]
Chr7:7q21.3
likely benign
GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1 copy number loss Split-hand/foot malformation 1 [RCV000656540] Chr7:92445452..99686985 [GRCh37]
Chr7:7q21.2-22.1
pathogenic
GRCh37/hg19 7q21.3(chr7:97395495-97758990)x3 copy number gain not provided [RCV000682835] Chr7:97395495..97758990 [GRCh37]
Chr7:7q21.3
uncertain significance
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Speech-language disorder 1 [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_014916.4(LMTK2):c.1362G>A (p.Arg454=) single nucleotide variant not provided [RCV000897177] Chr7:98191827 [GRCh38]
Chr7:97821139 [GRCh37]
Chr7:7q21.3
likely benign
NM_014916.4(LMTK2):c.3096C>T (p.Tyr1032=) single nucleotide variant not provided [RCV000972770] Chr7:98193561 [GRCh38]
Chr7:97822873 [GRCh37]
Chr7:7q21.3
benign
NM_014916.4(LMTK2):c.3024G>A (p.Ala1008=) single nucleotide variant not provided [RCV000884659] Chr7:98193489 [GRCh38]
Chr7:97822801 [GRCh37]
Chr7:7q21.3
benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_014916.4(LMTK2):c.3339C>T (p.Pro1113=) single nucleotide variant not provided [RCV000881349] Chr7:98193804 [GRCh38]
Chr7:97823116 [GRCh37]
Chr7:7q21.3
benign
NM_014916.4(LMTK2):c.2729G>T (p.Ser910Ile) single nucleotide variant not provided [RCV000962217] Chr7:98193194 [GRCh38]
Chr7:97822506 [GRCh37]
Chr7:7q21.3
benign
NM_014916.4(LMTK2):c.4149G>C (p.Ala1383=) single nucleotide variant not provided [RCV000962218] Chr7:98203615 [GRCh38]
Chr7:97832927 [GRCh37]
Chr7:7q21.3
benign
NM_014916.4(LMTK2):c.3312G>A (p.Ala1104=) single nucleotide variant not provided [RCV000889592] Chr7:98193777 [GRCh38]
Chr7:97823089 [GRCh37]
Chr7:7q21.3
benign
GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327) copy number gain Robin sequence [RCV001352649] Chr7:87477185..100333327 [GRCh37]
Chr7:7q21.12-22.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17880 AgrOrtholog
COSMIC LMTK2 COSMIC
Ensembl Genes ENSG00000164715 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000297293 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000297293 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000164715 GTEx
HGNC ID HGNC:17880 ENTREZGENE
Human Proteome Map LMTK2 Human Proteome Map
InterPro Kinase-like_dom_sf UniProtKB/Swiss-Prot
  Prot_kinase_dom UniProtKB/Swiss-Prot
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot
  Tyr_kinase_AS UniProtKB/Swiss-Prot
KEGG Report hsa:22853 UniProtKB/Swiss-Prot
NCBI Gene 22853 ENTREZGENE
OMIM 610989 OMIM
Pfam Pkinase_Tyr UniProtKB/Swiss-Prot
PharmGKB PA134884391 PharmGKB
PRINTS TYRKINASE UniProtKB/Swiss-Prot
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot
UniProt A2VDI9_HUMAN UniProtKB/TrEMBL
  L8E8L1_HUMAN UniProtKB/TrEMBL
  LMTK2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A4D272 UniProtKB/Swiss-Prot
  Q75MG7 UniProtKB/Swiss-Prot
  Q9UPS3 UniProtKB/Swiss-Prot