LHFPL2 (LHFPL tetraspan subfamily member 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: LHFPL2 (LHFPL tetraspan subfamily member 2) Homo sapiens
Analyze
Symbol: LHFPL2
Name: LHFPL tetraspan subfamily member 2
RGD ID: 1320443
HGNC Page HGNC
Description: Predicted to be involved in development of primary female sexual characteristics; development of primary male sexual characteristics; and positive regulation of fertilization. Predicted to localize to membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp781E0375; KIAA0206; LHFP-like protein 2; lipoma HMGIC fusion partner-like 2; lipoma HMGIC fusion partner-like 2 protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl578,485,215 - 78,770,021 (-)EnsemblGRCh38hg38GRCh38
GRCh38578,485,224 - 78,770,256 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37577,781,053 - 77,944,595 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36577,816,794 - 77,980,404 (-)NCBINCBI36hg18NCBI36
Build 34577,816,809 - 77,841,867NCBI
Celera573,674,222 - 73,837,829 (-)NCBI
Cytogenetic Map5q14.1NCBI
HuRef572,987,888 - 73,135,012 (-)NCBIHuRef
CHM1_1577,214,339 - 77,377,632 (-)NCBICHM1_1
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

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8889548   PMID:9039502   PMID:10329012   PMID:12477932   PMID:14702039   PMID:15146197   PMID:15905332   PMID:16344560   PMID:19668339   PMID:20379614   PMID:21873635   PMID:25343990  
PMID:27402877   PMID:32296183  


Genomics

Comparative Map Data
LHFPL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl578,485,215 - 78,770,021 (-)EnsemblGRCh38hg38GRCh38
GRCh38578,485,224 - 78,770,256 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37577,781,053 - 77,944,595 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36577,816,794 - 77,980,404 (-)NCBINCBI36hg18NCBI36
Build 34577,816,809 - 77,841,867NCBI
Celera573,674,222 - 73,837,829 (-)NCBI
Cytogenetic Map5q14.1NCBI
HuRef572,987,888 - 73,135,012 (-)NCBIHuRef
CHM1_1577,214,339 - 77,377,632 (-)NCBICHM1_1
Lhfpl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391394,193,659 - 94,331,918 (+)NCBIGRCm39mm39
GRCm39 Ensembl1394,194,304 - 94,331,917 (+)Ensembl
GRCm381394,057,152 - 94,195,410 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1394,057,796 - 94,195,409 (+)EnsemblGRCm38mm10GRCm38
MGSCv371394,827,751 - 94,965,364 (+)NCBIGRCm37mm9NCBIm37
MGSCv361395,158,549 - 95,296,163 (+)NCBImm8
Celera1397,679,541 - 97,817,771 (+)NCBICelera
Cytogenetic Map13C3NCBI
Lhfpl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2225,281,771 - 25,428,128 (+)NCBI
Rnor_6.0 Ensembl223,770,721 - 23,852,021 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0223,705,491 - 23,852,021 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0242,878,147 - 43,023,911 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4224,407,387 - 24,489,407 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1224,384,047 - 24,406,455 (+)NCBI
Celera221,418,069 - 21,501,439 (+)NCBICelera
Cytogenetic Map2q12NCBI
Lhfpl2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542522,504,107 - 22,557,970 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542522,398,503 - 22,556,667 (+)NCBIChiLan1.0ChiLan1.0
LHFPL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1537,151,995 - 37,314,043 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl537,289,046 - 37,314,043 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0536,663,171 - 36,825,272 (+)NCBIMhudiblu_PPA_v0panPan3
LHFPL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1328,255,389 - 28,279,510 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha329,367,033 - 29,520,677 (+)NCBI
ROS_Cfam_1.0328,049,631 - 28,203,008 (+)NCBI
UMICH_Zoey_3.1327,985,849 - 28,139,437 (+)NCBI
UNSW_CanFamBas_1.0327,964,071 - 28,117,601 (+)NCBI
UU_Cfam_GSD_1.0328,291,124 - 28,444,925 (+)NCBI
Lhfpl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213184,321,166 - 184,460,783 (+)NCBI
SpeTri2.0NW_0049365496,398,190 - 6,537,832 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LHFPL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl287,322,934 - 87,498,724 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1287,321,119 - 87,498,686 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2288,879,254 - 88,970,752 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LHFPL2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1472,738,214 - 72,769,384 (-)NCBI
ChlSab1.1 Ensembl472,737,678 - 72,835,153 (-)Ensembl
Vero_WHO_p1.0NW_02366604921,585,518 - 21,745,975 (-)NCBI
Lhfpl2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248692,991,062 - 3,146,048 (-)NCBI

Position Markers
B347YF9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37577,937,596 - 77,937,787UniSTSGRCh37
Build 36577,973,352 - 77,973,543RGDNCBI36
Celera573,830,777 - 73,830,968RGD
Cytogenetic Map5q14.1UniSTS
HuRef573,144,423 - 73,144,612UniSTS
Whitehead-RH Map5274.2UniSTS
Whitehead-YAC Contig Map5 UniSTS
NCBI RH Map5396.8UniSTS
SHGC-79805  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37577,897,449 - 77,897,722UniSTSGRCh37
Build 36577,933,205 - 77,933,478RGDNCBI36
Celera573,790,629 - 73,790,902RGD
Cytogenetic Map5q14.1UniSTS
HuRef573,104,275 - 73,104,548UniSTS
TNG Radiation Hybrid Map536517.0UniSTS
G60302  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37577,941,031 - 77,941,306UniSTSGRCh37
Build 36577,976,787 - 77,977,062RGDNCBI36
Celera573,834,212 - 73,834,487RGD
Cytogenetic Map5q14.1UniSTS
HuRef573,147,856 - 73,148,131UniSTS
TNG Radiation Hybrid Map536541.0UniSTS
TNG Radiation Hybrid Map583351.0UniSTS
RH118979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37577,826,212 - 77,826,511UniSTSGRCh37
Build 36577,861,968 - 77,862,267RGDNCBI36
Celera573,719,399 - 73,719,698RGD
Cytogenetic Map5q14.1UniSTS
HuRef573,033,039 - 73,033,338UniSTS
TNG Radiation Hybrid Map536493.0UniSTS
SHGC-105576  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37577,897,599 - 77,897,874UniSTSGRCh37
Build 36577,933,355 - 77,933,630RGDNCBI36
Celera573,790,779 - 73,791,054RGD
Cytogenetic Map5q14.1UniSTS
HuRef573,104,425 - 73,104,700UniSTS
TNG Radiation Hybrid Map536517.0UniSTS
LHFPL2_9056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37577,780,896 - 77,781,727UniSTSGRCh37
Build 36577,816,652 - 77,817,483RGDNCBI36
Celera573,674,080 - 73,674,911RGD
HuRef572,987,746 - 72,988,577UniSTS
SHGC-32444  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371187,225,859 - 87,225,986UniSTSGRCh37
GRCh37577,781,186 - 77,781,314UniSTSGRCh37
Build 36577,816,942 - 77,817,070RGDNCBI36
Celera573,674,370 - 73,674,498RGD
Celera1184,537,746 - 84,537,873UniSTS
Cytogenetic Map5q14.1UniSTS
HuRef572,988,036 - 72,988,164UniSTS
HuRef1183,513,088 - 83,513,215UniSTS
Stanford-G3 RH Map52844.0UniSTS
GeneMap99-GB4 RH Map5372.35UniSTS
Whitehead-RH Map5272.3UniSTS
NCBI RH Map5374.3UniSTS
GeneMap99-G3 RH Map52839.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3881
Count of miRNA genes:1151
Interacting mature miRNAs:1452
Transcripts:ENST00000380345, ENST00000502722, ENST00000503686, ENST00000510949, ENST00000512759, ENST00000514587, ENST00000515007, ENST00000515349
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 adipose tissue appendage entire extraembryonic component
High
Medium 1503 1413 574 198 770 57 2276 456 866 166 970 1063 151 999 1354 3
Low 929 1510 1060 337 1082 320 2065 1720 2839 247 478 545 19 205 1420 1
Below cutoff 1 62 90 87 96 87 14 17 12 5 2 2 2 14

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_005779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_948226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY309920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU735939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN314535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D86961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA094988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB292748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000380345   ⟹   ENSP00000369702
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl578,485,230 - 78,648,772 (-)Ensembl
RefSeq Acc Id: ENST00000502722
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl578,488,812 - 78,491,306 (-)Ensembl
RefSeq Acc Id: ENST00000503686
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl578,510,000 - 78,648,617 (-)Ensembl
RefSeq Acc Id: ENST00000510949
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl578,510,039 - 78,590,192 (-)Ensembl
RefSeq Acc Id: ENST00000512759
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl578,510,027 - 78,648,895 (-)Ensembl
RefSeq Acc Id: ENST00000514587
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl578,632,260 - 78,770,021 (-)Ensembl
RefSeq Acc Id: ENST00000515007   ⟹   ENSP00000425906
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl578,485,215 - 78,549,151 (-)Ensembl
RefSeq Acc Id: ENST00000515349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl578,624,817 - 78,642,162 (-)Ensembl
RefSeq Acc Id: NM_005779   ⟹   NP_005770
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38578,485,230 - 78,648,772 (-)NCBI
GRCh37577,781,038 - 77,944,648 (-)RGD
Build 36577,816,794 - 77,980,404 (-)NCBI Archive
Celera573,674,222 - 73,837,829 (-)RGD
HuRef572,987,888 - 73,135,012 (-)RGD
CHM1_1577,214,339 - 77,377,632 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006714515   ⟹   XP_006714578
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38578,485,224 - 78,648,900 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024454321   ⟹   XP_024310089
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38578,485,224 - 78,648,775 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024454322   ⟹   XP_024310090
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38578,485,224 - 78,770,256 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024454323   ⟹   XP_024310091
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38578,485,224 - 78,720,626 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024454324   ⟹   XP_024310092
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38578,485,224 - 78,550,544 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024454325   ⟹   XP_024310093
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38578,485,230 - 78,647,591 (-)NCBI
Sequence:
RefSeq Acc Id: XR_948226
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38578,489,067 - 78,648,775 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005770   ⟸   NM_005779
- UniProtKB: Q6ZUX7 (UniProtKB/Swiss-Prot),   A0A024RAM8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006714578   ⟸   XM_006714515
- Peptide Label: isoform X1
- UniProtKB: Q6ZUX7 (UniProtKB/Swiss-Prot),   A0A024RAM8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024310090   ⟸   XM_024454322
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024310091   ⟸   XM_024454323
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024310089   ⟸   XM_024454321
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024310092   ⟸   XM_024454324
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024310093   ⟸   XM_024454325
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000369702   ⟸   ENST00000380345
RefSeq Acc Id: ENSP00000425906   ⟸   ENST00000515007

Promoters
RGD ID:6803312
Promoter ID:HG_KWN:50533
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000226306
Position:
Human AssemblyChrPosition (strand)Source
Build 36577,841,734 - 77,842,234 (-)MPROMDB
RGD ID:6812763
Promoter ID:HG_ACW:64107
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:LHFPL2.AAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36577,880,569 - 77,881,069 (-)MPROMDB
RGD ID:6803314
Promoter ID:HG_KWN:50534
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC003KFP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36577,974,096 - 77,974,596 (-)MPROMDB
RGD ID:6803311
Promoter ID:HG_KWN:50535
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_005779
Position:
Human AssemblyChrPosition (strand)Source
Build 36577,980,276 - 77,981,112 (-)MPROMDB
RGD ID:6869962
Promoter ID:EPDNEW_H8146
Type:initiation region
Name:LHFPL2_2
Description:lipoma HMGIC fusion partner-like 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8147  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38578,510,361 - 78,510,421EPDNEW
RGD ID:6869964
Promoter ID:EPDNEW_H8147
Type:initiation region
Name:LHFPL2_1
Description:lipoma HMGIC fusion partner-like 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8146  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38578,549,228 - 78,549,288EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 copy number gain See cases [RCV000051839] Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1
pathogenic
NM_005779.2(LHFPL2):c.-245+2365A>G single nucleotide variant Lung cancer [RCV000096189] Chr5:78629899 [GRCh38]
Chr5:77925722 [GRCh37]
Chr5:5q14.1
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q14.1(chr5:77944003-77944935)x3 copy number gain not provided [RCV000744866] Chr5:77944003..77944935 [GRCh37]
Chr5:5q14.1
benign
GRCh37/hg19 5q14.1(chr5:77944003-77944988)x1 copy number loss not provided [RCV000744867] Chr5:77944003..77944988 [GRCh37]
Chr5:5q14.1
benign
GRCh37/hg19 5q14.1(chr5:77944003-77944988)x3 copy number gain not provided [RCV000744868] Chr5:77944003..77944988 [GRCh37]
Chr5:5q14.1
benign
GRCh37/hg19 5q14.1(chr5:77944003-77945206)x3 copy number gain not provided [RCV000744869] Chr5:77944003..77945206 [GRCh37]
Chr5:5q14.1
benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3 copy number gain not provided [RCV001005683] Chr5:72790061..97478870 [GRCh37]
Chr5:5q13.2-15
pathogenic
NC_000005.9:g.(?_77385207)_(78135259_?)del deletion Mucopolysaccharidosis type 6 [RCV001386245] Chr5:77385207..78135259 [GRCh37]
Chr5:5q14.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6588 AgrOrtholog
COSMIC LHFPL2 COSMIC
Ensembl Genes ENSG00000145685 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000369702 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000425906 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000380345 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000515007 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000145685 GTEx
HGNC ID HGNC:6588 ENTREZGENE
Human Proteome Map LHFPL2 Human Proteome Map
InterPro LHFPL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10184 ENTREZGENE
OMIM 609718 OMIM
PANTHER PTHR12489 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam L_HMGIC_fpl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30360 PharmGKB
UniProt A0A024RAM8 ENTREZGENE, UniProtKB/TrEMBL
  LHPL2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RMQ6 UniProtKB/Swiss-Prot
  Q7Z5P0 UniProtKB/Swiss-Prot
  Q92605 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-06-27 LHFPL2  LHFPL tetraspan subfamily member 2  LHFPL2  lipoma HMGIC fusion partner-like 2  Symbol and/or name change 5135510 APPROVED