MAL2 (mal, T cell differentiation protein 2) - Rat Genome Database

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Gene: MAL2 (mal, T cell differentiation protein 2) Homo sapiens
Analyze
Symbol: MAL2
Name: mal, T cell differentiation protein 2
RGD ID: 1348409
HGNC Page HGNC
Description: Predicted to be a structural constituent of myelin sheath. Predicted to be involved in myelination. Localizes to membrane raft.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: MAL proteolipid protein 2; mal, T cell differentiation protein 2 (gene/pseudogene); mal, T-cell differentiation protein 2; mal, T-cell differentiation protein 2 (gene/pseudogene); MAL2 proteolipid protein; myelin and lymphocyte protein 2
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 Ensembl8119,165,034 - 119,245,673 (+)EnsemblGRCh38hg38GRCh38
GRCh388119,208,363 - 119,245,673 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378120,220,602 - 120,257,913 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368120,289,791 - 120,327,094 (+)NCBINCBI36hg18NCBI36
Build 348120,289,813 - 120,327,092NCBI
Celera8116,410,022 - 116,447,299 (+)NCBI
Cytogenetic Map8q24.12NCBI
HuRef8115,541,181 - 115,578,458 (+)NCBIHuRef
CHM1_18120,261,638 - 120,298,914 (+)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
(-)-demecolcine  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
aldrin  (ISO)
all-trans-retinoic acid  (EXP,ISO)
arsane  (EXP)
arsenic atom  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
choline  (EXP)
chromium(6+)  (EXP)
ciguatoxin CTX1B  (ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
cocaine  (EXP)
copper(II) sulfate  (EXP,ISO)
cyclosporin A  (EXP,ISO)
dicrotophos  (EXP)
dioxygen  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
fipronil  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
genistein  (ISO)
hydrogen peroxide  (EXP)
leflunomide  (ISO)
mercury dibromide  (EXP)
methapyrilene  (ISO)
nefazodone  (ISO)
paracetamol  (EXP,ISO)
PCB138  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
poly(I:C)  (ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
propiconazole  (ISO)
quartz  (ISO)
quercetin  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenate  (EXP)
sodium fluoride  (ISO)
tetrachloromethane  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
trovafloxacin  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11549320   PMID:12370246   PMID:12477932   PMID:12963375   PMID:14576188   PMID:14702039   PMID:14729876   PMID:15168355   PMID:15466889   PMID:15489334   PMID:16445687   PMID:16620967  
PMID:17145811   PMID:17255364   PMID:19056867   PMID:19175940   PMID:19322201   PMID:19668339   PMID:19683524   PMID:20846453   PMID:21516116   PMID:21573057   PMID:21873635   PMID:21988832  
PMID:22321011   PMID:23264465   PMID:23376485   PMID:25080503   PMID:25084525   PMID:25189868   PMID:25416956   PMID:26871637   PMID:27107014   PMID:28562687   PMID:29509190   PMID:30021343  
PMID:30195491   PMID:31397491   PMID:31515488   PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
MAL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8119,165,034 - 119,245,673 (+)EnsemblGRCh38hg38GRCh38
GRCh388119,208,363 - 119,245,673 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378120,220,602 - 120,257,913 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368120,289,791 - 120,327,094 (+)NCBINCBI36hg18NCBI36
Build 348120,289,813 - 120,327,092NCBI
Celera8116,410,022 - 116,447,299 (+)NCBI
Cytogenetic Map8q24.12NCBI
HuRef8115,541,181 - 115,578,458 (+)NCBIHuRef
CHM1_18120,261,638 - 120,298,914 (+)NCBICHM1_1
Mal2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391554,434,762 - 54,466,242 (+)NCBIGRCm39mm39
GRCm39 Ensembl1554,434,588 - 54,466,243 (+)Ensembl
GRCm381554,571,366 - 54,602,846 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1554,571,192 - 54,602,847 (+)EnsemblGRCm38mm10GRCm38
MGSCv371554,402,921 - 54,434,401 (+)NCBIGRCm37mm9NCBIm37
MGSCv361554,401,568 - 54,432,921 (+)NCBImm8
Celera1556,118,158 - 56,149,419 (+)NCBICelera
Cytogenetic Map15D1NCBI
Mal2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2785,900,453 - 85,933,433 (+)NCBI
Rnor_6.0 Ensembl794,130,852 - 94,163,645 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0794,130,852 - 94,163,649 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0794,768,727 - 94,801,524 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4790,945,459 - 90,978,439 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1790,997,672 - 91,010,639 (+)NCBI
Celera782,723,384 - 82,756,315 (+)NCBICelera
Cytogenetic Map7q32NCBI
Mal2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541725,069,847 - 25,096,132 (+)NCBIChiLan1.0ChiLan1.0
MAL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18118,413,406 - 118,452,972 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8118,413,391 - 118,452,972 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08115,894,617 - 115,935,359 (+)NCBIMhudiblu_PPA_v0panPan3
MAL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11318,404,979 - 18,422,076 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1318,406,633 - 18,420,469 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1318,403,036 - 18,427,730 (+)NCBI
ROS_Cfam_1.01318,724,583 - 18,749,279 (+)NCBI
UMICH_Zoey_3.11318,452,434 - 18,477,116 (+)NCBI
UNSW_CanFamBas_1.01318,551,113 - 18,575,808 (+)NCBI
UU_Cfam_GSD_1.01318,782,261 - 18,806,942 (+)NCBI
Mal2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530319,889,255 - 19,914,694 (-)NCBI
SpeTri2.0NW_00493647027,315,356 - 27,390,078 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MAL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl419,593,536 - 19,715,182 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1419,593,536 - 19,658,695 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2420,613,479 - 20,678,729 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MAL2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18113,800,325 - 113,830,578 (+)NCBI
ChlSab1.1 Ensembl8113,800,358 - 113,832,534 (+)Ensembl
Mal2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476317,421,000 - 17,446,653 (+)NCBI

Position Markers
SHGC-32002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,257,760 - 120,257,869UniSTSGRCh37
Build 368120,326,941 - 120,327,050RGDNCBI36
Celera8116,447,146 - 116,447,255RGD
Cytogenetic Map8q23UniSTS
HuRef8115,578,305 - 115,578,414UniSTS
Whitehead-RH Map8617.8UniSTS
GeneMap99-G3 RH Map82530.0UniSTS
RH47269  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,257,446 - 120,257,614UniSTSGRCh37
Build 368120,326,627 - 120,326,795RGDNCBI36
Celera8116,446,832 - 116,447,000RGD
Cytogenetic Map8q23UniSTS
HuRef8115,577,991 - 115,578,159UniSTS
GeneMap99-GB4 RH Map8463.74UniSTS
RH102710  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,233,409 - 120,233,591UniSTSGRCh37
Build 368120,302,590 - 120,302,772RGDNCBI36
Celera8116,422,820 - 116,423,002RGD
Cytogenetic Map8q23UniSTS
HuRef8115,553,979 - 115,554,161UniSTS
GeneMap99-GB4 RH Map8466.99UniSTS
D8S1437E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,256,204 - 120,256,356UniSTSGRCh37
Build 368120,325,385 - 120,325,537RGDNCBI36
Celera8116,445,590 - 116,445,742RGD
Cytogenetic Map8q23UniSTS
HuRef8115,576,749 - 115,576,901UniSTS
MAL2_906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,257,266 - 120,257,930UniSTSGRCh37
Build 368120,326,447 - 120,327,111RGDNCBI36
Celera8116,446,652 - 116,447,316RGD
HuRef8115,577,811 - 115,578,475UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:858
Count of miRNA genes:515
Interacting mature miRNAs:559
Transcripts:ENST00000276681, ENST00000521748, ENST00000522112, ENST00000531508, ENST00000534619
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 6 1 47 4
Medium 848 7 1381 565 124 410 1536 15 1938 364 768 1525 167 239 700 3
Low 603 814 212 54 219 50 875 332 1145 43 359 48 4 909 247 1
Below cutoff 962 2081 126 2 997 3 1867 1764 591 10 271 25 3 1 55 1783

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000522112   ⟹   ENSP00000483044
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8119,165,034 - 119,243,528 (+)Ensembl
RefSeq Acc Id: ENST00000531508   ⟹   ENSP00000484544
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8119,208,868 - 119,243,648 (+)Ensembl
RefSeq Acc Id: ENST00000534619   ⟹   ENSP00000482729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8119,207,949 - 119,243,522 (+)Ensembl
RefSeq Acc Id: ENST00000614891   ⟹   ENSP00000479708
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8119,208,363 - 119,245,673 (+)Ensembl
RefSeq Acc Id: NM_052886   ⟹   NP_443118
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,208,363 - 119,245,673 (+)NCBI
GRCh378120,220,610 - 120,257,913 (+)ENTREZGENE
Build 368120,289,791 - 120,327,094 (+)NCBI Archive
HuRef8115,541,181 - 115,578,458 (+)ENTREZGENE
CHM1_18120,261,638 - 120,298,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516807   ⟹   XP_011515109
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,208,416 - 119,245,673 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_443118   ⟸   NM_052886
- UniProtKB: Q969L2 (UniProtKB/Swiss-Prot),   A0A024R9E4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515109   ⟸   XM_011516807
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000484544   ⟸   ENST00000531508
RefSeq Acc Id: ENSP00000482729   ⟸   ENST00000534619
RefSeq Acc Id: ENSP00000479708   ⟸   ENST00000614891
RefSeq Acc Id: ENSP00000483044   ⟸   ENST00000522112
Protein Domains
MARVEL

Promoters
RGD ID:7214061
Promoter ID:EPDNEW_H12776
Type:initiation region
Name:MAL2_1
Description:mal, T-cell differentiation protein 2 (gene/pseudogene)
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12768  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,208,378 - 119,208,438EPDNEW
RGD ID:6806860
Promoter ID:HG_KWN:61979
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000276681,   NM_052886,   UC003YOP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368120,289,581 - 120,290,081 (+)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 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 8q24.11-24.13(chr8:118059192-121574437)x1 copy number loss See cases [RCV000054304] Chr8:118059192..121574437 [GRCh38]
Chr8:119071431..122586677 [GRCh37]
Chr8:119140612..122655858 [NCBI36]
Chr8:8q24.11-24.13
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 8q23.3-24.12(chr8:113418060-120975305)x1 copy number loss See cases [RCV000135291] Chr8:113418060..120975305 [GRCh38]
Chr8:114430289..121987545 [GRCh37]
Chr8:114499465..122056726 [NCBI36]
Chr8:8q23.3-24.12
pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1 copy number loss See cases [RCV000135819] Chr8:112528342..120083041 [GRCh38]
Chr8:113540571..121095280 [GRCh37]
Chr8:113609747..121164461 [NCBI36]
Chr8:8q23.3-24.12
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 8q24.12(chr8:118899704-119750010)x1 copy number loss See cases [RCV000137740] Chr8:118899704..119750010 [GRCh38]
Chr8:119911943..120762250 [GRCh37]
Chr8:119981124..120831431 [NCBI36]
Chr8:8q24.12
likely benign
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 8q23.3-24.13(chr8:114560780-122594102)x1 copy number loss See cases [RCV000139027] Chr8:114560780..122594102 [GRCh38]
Chr8:115573009..123606341 [GRCh37]
Chr8:115642185..123675522 [NCBI36]
Chr8:8q23.3-24.13
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 8q24.12(chr8:119196262-119291664)x3 copy number gain See cases [RCV000140247] Chr8:119196262..119291664 [GRCh38]
Chr8:120208501..120303904 [GRCh37]
Chr8:120277682..120373085 [NCBI36]
Chr8:8q24.12
likely benign
GRCh38/hg38 8q24.12(chr8:118626991-119703035)x3 copy number gain See cases [RCV000139886] Chr8:118626991..119703035 [GRCh38]
Chr8:119639230..120715275 [GRCh37]
Chr8:119708411..120784456 [NCBI36]
Chr8:8q24.12
uncertain significance
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 8q23.3-24.13(chr8:113933305-122621741)x1 copy number loss See cases [RCV000140680] Chr8:113933305..122621741 [GRCh38]
Chr8:114945534..123633980 [GRCh37]
Chr8:115014710..123703161 [NCBI36]
Chr8:8q23.3-24.13
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 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
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
GRCh37/hg19 8q24.12(chr8:119936372-120651018)x3 copy number gain See cases [RCV000447347] Chr8:119936372..120651018 [GRCh37]
Chr8:8q24.12
uncertain significance
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 8q23.1-24.12(chr8:107032887-120742018)x1 copy number loss See cases [RCV000448650] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12
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 8q24.12(chr8:120252409-120270739)x3 copy number gain See cases [RCV000448297] Chr8:120252409..120270739 [GRCh37]
Chr8:8q24.12
likely benign
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 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 8q23.1-24.13(chr8:110250943-123515785)x1 copy number loss not provided [RCV000683038] Chr8:110250943..123515785 [GRCh37]
Chr8:8q23.1-24.13
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(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
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 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 8q23.2-24.13(chr8:111514791-123192373)x1 copy number loss not provided [RCV001006131] Chr8:111514791..123192373 [GRCh37]
Chr8:8q23.2-24.13
pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13634 AgrOrtholog
COSMIC MAL2 COSMIC
Ensembl Genes ENSG00000147676 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000479708 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000482729 UniProtKB/TrEMBL
  ENSP00000483044 UniProtKB/TrEMBL
  ENSP00000484544 UniProtKB/TrEMBL
Ensembl Transcript ENST00000522112 UniProtKB/TrEMBL
  ENST00000531508 UniProtKB/TrEMBL
  ENST00000534619 UniProtKB/TrEMBL
  ENST00000614891 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000147676 GTEx
HGNC ID HGNC:13634 ENTREZGENE
Human Proteome Map MAL2 Human Proteome Map
InterPro MAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAL2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Marvel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:114569 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 114569 ENTREZGENE
OMIM 609684 OMIM
PANTHER PTHR22776:SF42 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MARVEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30566 PharmGKB
PRINTS MALPROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MARVEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9E4 ENTREZGENE, UniProtKB/TrEMBL
  A0A087WZL1_HUMAN UniProtKB/TrEMBL
  MAL2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2R520 UniProtKB/Swiss-Prot
  Q6ZMD9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-05-11 MAL2  mal, T cell differentiation protein 2  MAL2  mal, T cell differentiation protein 2 (gene/pseudogene)  Symbol and/or name change 19259463 PROVISIONAL
2017-12-19 MAL2  mal, T cell differentiation protein 2 (gene/pseudogene)  MAL2  mal, T-cell differentiation protein 2 (gene/pseudogene)  Symbol and/or name change 5135510 APPROVED
2011-07-27 MAL2  mal, T-cell differentiation protein 2 (gene/pseudogene)  MAL2  mal, T-cell differentiation protein 2  Symbol and/or name change 5135510 APPROVED