LRATD2 (LRAT domain containing 2) - Rat Genome Database

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Gene: LRATD2 (LRAT domain containing 2) Homo sapiens
Analyze
Symbol: LRATD2
Name: LRAT domain containing 2
RGD ID: 1606136
HGNC Page HGNC
Description: Localizes to cytoplasm and plasma membrane; INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 2-hydroxypropanoic acid.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: BCMP101; breast cancer membrane protein 101; breast cancer membrane-associated protein 101; FAM84B; family with sequence similarity 84 member B; family with sequence similarity 84, member B; neurological/sensory 2; NSE2
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 Ensembl8126,552,443 - 126,558,478 (-)EnsemblGRCh38hg38GRCh38
GRCh388126,552,443 - 126,558,498 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378127,564,688 - 127,570,723 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368127,633,869 - 127,639,648 (-)NCBINCBI36hg18NCBI36
Celera8123,744,691 - 123,750,470 (-)NCBI
Cytogenetic Map8q24.21NCBI
HuRef8122,881,757 - 122,887,785 (-)NCBIHuRef
CHM1_18127,604,964 - 127,610,992 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477722   PMID:12477932   PMID:15489334   PMID:16490593   PMID:17207965   PMID:17401363   PMID:17401366   PMID:17529967   PMID:17618283   PMID:17618284   PMID:18372901   PMID:19322201  
PMID:19549893   PMID:20062064   PMID:20158306   PMID:23251661   PMID:23326517   PMID:25416956   PMID:25468996   PMID:25640309   PMID:25980316   PMID:26186194   PMID:26759717   PMID:28186973  
PMID:28298427   PMID:28514442   PMID:29509190   PMID:30638658   PMID:31515488   PMID:31741433   PMID:32183428   PMID:32291380   PMID:32296183  


Genomics

Candidate Gene Status
LRATD2 is a candidate Gene for QTL PRSTS2_H
Comparative Map Data
LRATD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8126,552,443 - 126,558,478 (-)EnsemblGRCh38hg38GRCh38
GRCh388126,552,443 - 126,558,498 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378127,564,688 - 127,570,723 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368127,633,869 - 127,639,648 (-)NCBINCBI36hg18NCBI36
Celera8123,744,691 - 123,750,470 (-)NCBI
Cytogenetic Map8q24.21NCBI
HuRef8122,881,757 - 122,887,785 (-)NCBIHuRef
CHM1_18127,604,964 - 127,610,992 (-)NCBICHM1_1
Lratd2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391560,690,845 - 60,697,954 (-)NCBIGRCm39mm39
GRCm39 Ensembl1560,690,843 - 60,725,627 (-)Ensembl
GRCm381560,818,996 - 60,826,105 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1560,818,994 - 60,853,778 (-)EnsemblGRCm38mm10GRCm38
MGSCv371560,650,551 - 60,656,635 (-)NCBIGRCm37mm9NCBIm37
MGSCv361560,648,999 - 60,652,116 (-)NCBImm8
Celera1562,334,714 - 62,340,798 (-)NCBICelera
Cytogenetic Map15D1NCBI
Lratd2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2792,376,713 - 92,387,045 (-)NCBI
Rnor_6.0 Ensembl7101,139,376 - 101,140,308 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07101,138,188 - 101,142,123 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07101,706,470 - 101,710,643 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4797,686,396 - 97,688,774 (-)NCBIRGSC3.4rn4RGSC3.4
Celera789,099,897 - 89,102,093 (-)NCBICelera
Cytogenetic Map7q33NCBI
Lratd2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554611,626,560 - 1,627,495 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554611,623,114 - 1,627,515 (-)NCBIChiLan1.0ChiLan1.0
LRATD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18125,965,364 - 125,971,383 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8125,969,376 - 125,970,308 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08123,216,937 - 123,222,960 (-)NCBIMhudiblu_PPA_v0panPan3
LRATD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11324,213,085 - 24,217,588 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1324,185,118 - 24,191,368 (-)NCBI
ROS_Cfam_1.01324,558,048 - 24,564,352 (-)NCBI
UMICH_Zoey_3.11324,280,287 - 24,286,530 (-)NCBI
UNSW_CanFamBas_1.01324,385,481 - 24,391,720 (-)NCBI
UU_Cfam_GSD_1.01324,637,006 - 24,643,286 (-)NCBI
Lratd2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530314,006,407 - 14,130,300 (+)NCBI
SpeTri2.0NW_00493647021,439,925 - 21,445,582 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LRATD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl413,445,309 - 13,451,329 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1413,445,283 - 13,451,329 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2413,883,537 - 13,887,194 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LRATD2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18121,130,097 - 121,136,257 (-)NCBI
ChlSab1.1 Ensembl8121,134,166 - 121,135,098 (-)Ensembl
Lratd2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473528,826,119 - 28,831,317 (+)NCBI

Position Markers
RH102084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378127,564,957 - 127,565,125UniSTSGRCh37
Build 368127,634,139 - 127,634,307RGDNCBI36
Celera8123,744,961 - 123,745,129RGD
Cytogenetic Map8q24.21UniSTS
HuRef8122,882,031 - 122,882,199UniSTS
GeneMap99-GB4 RH Map8482.11UniSTS
RH103480  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378127,565,539 - 127,565,672UniSTSGRCh37
Build 368127,634,721 - 127,634,854RGDNCBI36
Celera8123,745,543 - 123,745,676RGD
Cytogenetic Map8q24.21UniSTS
HuRef8122,882,613 - 122,882,746UniSTS
GeneMap99-GB4 RH Map8482.51UniSTS
RH44809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378127,568,882 - 127,569,132UniSTSGRCh37
Build 368127,638,064 - 127,638,314RGDNCBI36
Celera8123,748,886 - 123,749,136RGD
Cytogenetic Map8q24.21UniSTS
HuRef8122,885,956 - 122,886,206UniSTS
GeneMap99-GB4 RH Map8482.41UniSTS
NCBI RH Map81454.9UniSTS
RH78068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378127,569,251 - 127,569,400UniSTSGRCh37
Build 368127,638,433 - 127,638,582RGDNCBI36
Celera8123,749,255 - 123,749,404RGD
Cytogenetic Map8q24.21UniSTS
HuRef8122,886,325 - 122,886,474UniSTS
GeneMap99-GB4 RH Map8482.61UniSTS
NCBI RH Map81453.7UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1857
Count of miRNA genes:916
Interacting mature miRNAs:1077
Transcripts:ENST00000304916, ENST00000517458
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 pharyngeal arch
High 4 1 2 2
Medium 732 68 872 285 142 128 1761 111 597 372 730 1362 169 715 619 2
Low 1701 2546 850 337 948 335 2540 2019 3116 45 724 242 4 1 489 2116 3 2
Below cutoff 2 372 4 2 665 2 55 60 16 2 4 5 1 53

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000304916   ⟹   ENSP00000302578
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8126,552,443 - 126,558,478 (-)Ensembl
RefSeq Acc Id: ENST00000517458
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8126,552,815 - 126,556,419 (-)Ensembl
RefSeq Acc Id: ENST00000652209   ⟹   ENSP00000498944
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8126,552,901 - 126,557,731 (-)Ensembl
RefSeq Acc Id: NM_174911   ⟹   NP_777571
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388126,552,443 - 126,558,478 (-)NCBI
GRCh378127,564,683 - 127,570,717 (-)NCBI
Build 368127,633,869 - 127,639,648 (-)NCBI Archive
Celera8123,744,691 - 123,750,470 (-)RGD
HuRef8122,881,757 - 122,887,785 (-)ENTREZGENE
CHM1_18127,604,964 - 127,610,992 (-)NCBI
Sequence:
RefSeq Acc Id: NR_156466
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388126,552,443 - 126,558,478 (-)NCBI
RefSeq Acc Id: XM_017013107   ⟹   XP_016868596
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388126,552,537 - 126,558,498 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013108   ⟹   XP_016868597
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388126,552,537 - 126,558,391 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_777571   ⟸   NM_174911
- UniProtKB: Q96KN1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016868597   ⟸   XM_017013108
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016868596   ⟸   XM_017013107
- Peptide Label: isoform X1
- UniProtKB: Q96KN1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000498944   ⟸   ENST00000652209
RefSeq Acc Id: ENSP00000302578   ⟸   ENST00000304916

Promoters
RGD ID:7214167
Promoter ID:EPDNEW_H12830
Type:initiation region
Name:FAM84B_1
Description:family with sequence similarity 84 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388126,558,391 - 126,558,451EPDNEW
RGD ID:6806754
Promoter ID:HG_KWN:62076
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3
Transcripts:UC010MDO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368127,637,991 - 127,639,757 (-)MPROMDB
RGD ID:6806753
Promoter ID:HG_KWN:62077
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562
Transcripts:NM_174911
Position:
Human AssemblyChrPosition (strand)Source
Build 368127,639,664 - 127,640,164 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3 copy number gain See cases [RCV000133620] Chr8:122454392..128513076 [GRCh38]
Chr8:123466631..129525322 [GRCh37]
Chr8:123535812..129594504 [NCBI36]
Chr8:8q24.13-24.21
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.21(chr8:126533658-126716129)x3 copy number gain See cases [RCV000139819] Chr8:126533658..126716129 [GRCh38]
Chr8:127545903..127728374 [GRCh37]
Chr8:127615085..127797556 [NCBI36]
Chr8:8q24.21
likely benign
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.13-24.21(chr8:125539280-128129372)x1 copy number loss See cases [RCV000510509] Chr8:125539280..128129372 [GRCh37]
Chr8:8q24.13-24.21
uncertain significance
NM_174911.5(LRATD2):c.391_392dup (p.His132fs) duplication not provided [RCV000509106] Chr8:126556997..126556998 [GRCh38]
Chr8:127569242..127569243 [GRCh37]
Chr8:8q24.21
not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8q24.13-24.21(chr8:127103853-127670426)x1 copy number loss See cases [RCV000511486] Chr8:127103853..127670426 [GRCh37]
Chr8:8q24.13-24.21
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.13-24.21(chr8:127185755-128672802) copy number loss not provided [RCV000767643] Chr8:127185755..128672802 [GRCh37]
Chr8:8q24.13-24.21
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.13-24.21(chr8:123074293-131113892)x1 copy number loss not provided [RCV000848164] Chr8:123074293..131113892 [GRCh37]
Chr8:8q24.13-24.21
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.21(chr8:127500924-127712595)x3 copy number gain not provided [RCV001006145] Chr8:127500924..127712595 [GRCh37]
Chr8:8q24.21
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24166 AgrOrtholog
COSMIC LRATD2 COSMIC
Ensembl Genes ENSG00000168672 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000302578 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000498944 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000304916 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000652209 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000168672 GTEx
HGNC ID HGNC:24166 ENTREZGENE
Human Proteome Map LRATD2 Human Proteome Map
InterPro FAM84B UniProtKB/Swiss-Prot
  LRAT_dom UniProtKB/Swiss-Prot
  LRATD1_LRATD2 UniProtKB/Swiss-Prot
KEGG Report hsa:157638 UniProtKB/Swiss-Prot
NCBI Gene 157638 ENTREZGENE
OMIM 609483 OMIM
PANTHER PTHR46341 UniProtKB/Swiss-Prot
  PTHR46341:SF2 UniProtKB/Swiss-Prot
Pfam LRAT UniProtKB/Swiss-Prot
PharmGKB PA142671855 PharmGKB
PROSITE LRAT UniProtKB/Swiss-Prot
UniProt FA84B_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-03-05 LRATD2  LRAT domain containing 2  FAM84B  family with sequence similarity 84 member B  Symbol and/or name change 5135510 APPROVED
2015-11-24 FAM84B  family with sequence similarity 84 member B    family with sequence similarity 84, member B  Symbol and/or name change 5135510 APPROVED