MATN2 (matrilin 2) - Rat Genome Database

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Gene: MATN2 (matrilin 2) Homo sapiens
Analyze
Symbol: MATN2
Name: matrilin 2
RGD ID: 1313328
HGNC Page HGNC
Description: Predicted to be an extracellular matrix structural constituent. Predicted to be involved in neurogenesis and response to axon injury. Localizes to collagen-containing extracellular matrix.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: matrilin-2; testis tissue sperm-binding protein Li 94mP
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 Ensembl897,868,840 - 98,036,724 (+)EnsemblGRCh38hg38GRCh38
GRCh38897,869,064 - 98,036,724 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37898,881,292 - 99,048,952 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36898,950,487 - 99,118,124 (+)NCBINCBI36hg18NCBI36
Build 34898,969,380 - 99,117,616NCBI
Celera895,067,247 - 95,234,866 (+)NCBI
Cytogenetic Map8q22.1-q22.2NCBI
HuRef894,085,242 - 94,252,686 (+)NCBIHuRef
CHM1_1898,921,729 - 99,089,770 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-acetamidofluorene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
butanal  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
crocidolite asbestos  (EXP,ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
etoposide  (EXP)
folic acid  (ISO)
indometacin  (EXP)
irinotecan  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
methapyrilene  (EXP)
methotrexate  (EXP)
methylmercury chloride  (EXP)
mitomycin C  (EXP)
nickel atom  (EXP)
O-methyleugenol  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (ISO)
phenethyl isothiocyanate  (EXP)
phenylmercury acetate  (EXP)
potassium chromate  (EXP)
progesterone  (EXP)
rifampicin  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (EXP)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
valproic acid  (EXP)
vincristine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:9083061   PMID:11124542   PMID:11852232   PMID:11896063   PMID:12164922   PMID:12180907   PMID:12477932   PMID:12975309   PMID:14702039   PMID:15489334   PMID:16303743   PMID:16344560  
PMID:16401863   PMID:16713569   PMID:18328806   PMID:18386166   PMID:19490893   PMID:19730683   PMID:19834535   PMID:19913121   PMID:20551380   PMID:20628086   PMID:21078624   PMID:21873635  
PMID:21911467   PMID:21988832   PMID:22261194   PMID:22898364   PMID:23648065   PMID:23979707   PMID:25037231   PMID:26271809   PMID:27068509   PMID:27105914   PMID:27684187   PMID:27923659  
PMID:28514442   PMID:28533472   PMID:28675934   PMID:29507755   PMID:30408806   PMID:31493245   PMID:32046115  


Genomics

Comparative Map Data
MATN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl897,868,840 - 98,036,724 (+)EnsemblGRCh38hg38GRCh38
GRCh38897,869,064 - 98,036,724 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37898,881,292 - 99,048,952 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36898,950,487 - 99,118,124 (+)NCBINCBI36hg18NCBI36
Build 34898,969,380 - 99,117,616NCBI
Celera895,067,247 - 95,234,866 (+)NCBI
Cytogenetic Map8q22.1-q22.2NCBI
HuRef894,085,242 - 94,252,686 (+)NCBIHuRef
CHM1_1898,921,729 - 99,089,770 (+)NCBICHM1_1
Matn2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391534,306,827 - 34,436,388 (+)NCBIGRCm39mm39
GRCm39 Ensembl1534,306,823 - 34,436,419 (+)Ensembl
GRCm381534,306,681 - 34,436,242 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1534,306,677 - 34,436,273 (+)EnsemblGRCm38mm10GRCm38
MGSCv371534,236,436 - 34,365,997 (+)NCBIGRCm37mm9NCBIm37
MGSCv361534,251,271 - 34,380,827 (+)NCBImm8
Celera1534,929,595 - 35,064,101 (+)NCBICelera
Cytogenetic Map15B3.1NCBI
Matn2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2765,494,996 - 65,644,613 (+)NCBI
Rnor_6.0 Ensembl772,985,495 - 73,207,695 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0772,985,832 - 73,210,093 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0773,288,317 - 73,377,215 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4769,715,611 - 69,880,723 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1769,720,785 - 69,901,453 (+)NCBI
Celera762,599,934 - 62,745,634 (+)NCBICelera
Cytogenetic Map7q22NCBI
Matn2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541713,646,405 - 13,759,520 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541713,646,379 - 13,760,050 (+)NCBIChiLan1.0ChiLan1.0
MATN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1896,693,471 - 96,858,367 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl896,709,899 - 96,858,367 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0894,505,382 - 94,673,360 (+)NCBIMhudiblu_PPA_v0panPan3
MATN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.113149,108 - 296,005 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl13149,095 - 295,994 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha13143,714 - 289,630 (+)NCBI
ROS_Cfam_1.013297,878 - 444,393 (+)NCBI
UMICH_Zoey_3.113141,999 - 288,151 (+)NCBI
UNSW_CanFamBas_1.013249,847 - 395,659 (+)NCBI
UU_Cfam_GSD_1.013255,721 - 401,923 (+)NCBI
Matn2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530337,341,947 - 37,479,100 (-)NCBI
SpeTri2.0NW_00493647044,768,048 - 44,905,204 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MATN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl438,743,977 - 38,915,088 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1438,744,025 - 38,915,083 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2441,732,770 - 41,874,322 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MATN2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1892,787,508 - 92,951,908 (+)NCBI
ChlSab1.1 Ensembl892,787,740 - 92,952,224 (+)Ensembl
Matn2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247635,050,507 - 5,198,653 (+)NCBI

Position Markers
G20777  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,048,280 - 99,048,392UniSTSGRCh37
Build 36899,117,456 - 99,117,568RGDNCBI36
Celera895,234,198 - 95,234,310RGD
Cytogenetic Map8q22UniSTS
HuRef894,252,018 - 94,252,130UniSTS
A006G02  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,048,280 - 99,048,392UniSTSGRCh37
Build 36899,117,456 - 99,117,568RGDNCBI36
Celera895,234,198 - 95,234,310RGD
Cytogenetic Map8q22UniSTS
HuRef894,252,018 - 94,252,130UniSTS
GeneMap99-GB4 RH Map8442.24UniSTS
NCBI RH Map8997.6UniSTS
HSCZPH042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,048,208 - 99,048,416UniSTSGRCh37
Build 36899,117,384 - 99,117,592RGDNCBI36
Celera895,234,126 - 95,234,334RGD
Cytogenetic Map8q22UniSTS
HuRef894,251,946 - 94,252,154UniSTS
GeneMap99-GB4 RH Map8442.24UniSTS
Whitehead-RH Map8581.1UniSTS
NCBI RH Map8994.1UniSTS
SHGC-36779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,048,293 - 99,048,417UniSTSGRCh37
Build 36899,117,469 - 99,117,593RGDNCBI36
Celera895,234,211 - 95,234,335RGD
Cytogenetic Map8q22UniSTS
HuRef894,252,031 - 94,252,155UniSTS
Stanford-G3 RH Map83671.0UniSTS
GeneMap99-G3 RH Map83761.0UniSTS
G59494  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,048,211 - 99,048,317UniSTSGRCh37
Build 36899,117,387 - 99,117,493RGDNCBI36
Celera895,234,129 - 95,234,235RGD
Cytogenetic Map8q22UniSTS
HuRef894,251,949 - 94,252,055UniSTS
TNG Radiation Hybrid Map847040.0UniSTS
G62981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37898,909,635 - 98,909,938UniSTSGRCh37
Build 36898,978,811 - 98,979,114RGDNCBI36
Celera895,095,575 - 95,095,878RGD
Cytogenetic Map8q22UniSTS
HuRef894,113,544 - 94,113,847UniSTS
TNG Radiation Hybrid Map847104.0UniSTS
SHGC-147305  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37898,889,836 - 98,889,936UniSTSGRCh37
Build 36898,959,012 - 98,959,112RGDNCBI36
Celera895,075,775 - 95,075,875RGD
Cytogenetic Map8q22UniSTS
HuRef894,093,772 - 94,093,872UniSTS
TNG Radiation Hybrid Map847115.0UniSTS
MATN2__7381  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,047,933 - 99,048,466UniSTSGRCh37
Build 36899,117,109 - 99,117,642RGDNCBI36
Celera895,233,851 - 95,234,384RGD
HuRef894,251,671 - 94,252,204UniSTS
RH66182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,048,719 - 99,048,857UniSTSGRCh37
Build 36899,117,895 - 99,118,033RGDNCBI36
Celera895,234,637 - 95,234,775RGD
Cytogenetic Map8q22UniSTS
HuRef894,252,457 - 94,252,595UniSTS
GeneMap99-GB4 RH Map8437.58UniSTS
D8S2004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37898,920,714 - 98,920,891UniSTSGRCh37
Build 36898,989,890 - 98,990,067RGDNCBI36
Celera895,106,652 - 95,106,829RGD
Cytogenetic Map8q22UniSTS
HuRef894,124,623 - 94,124,800UniSTS
Stanford-G3 RH Map83678.0UniSTS
MARC_10159-10160:996678914:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,044,492 - 99,045,315UniSTSGRCh37
Celera895,230,410 - 95,231,233UniSTS
HuRef894,248,230 - 94,249,053UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3082
Count of miRNA genes:1054
Interacting mature miRNAs:1285
Transcripts:ENST00000254898, ENST00000517321, ENST00000518154, ENST00000518238, ENST00000518370, ENST00000519582, ENST00000519585, ENST00000520016, ENST00000520160, ENST00000521041, ENST00000521689, ENST00000521952, ENST00000522025, ENST00000522135, ENST00000522270, ENST00000523490, ENST00000523561, ENST00000524308
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.


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 1
Medium 2123 1818 1173 248 229 128 3330 1024 1364 256 1361 1264 131 1184 1946 2
Low 289 506 544 372 492 334 892 1042 2342 161 79 329 40 20 718
Below cutoff 20 659 8 2 1138 3 132 128 6 1 10 16 2 1 124 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001317748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI434413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX649093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB988661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA726202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U69263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000254898   ⟹   ENSP00000254898
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl897,869,064 - 98,036,724 (+)Ensembl
RefSeq Acc Id: ENST00000517321   ⟹   ENSP00000429885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,016,544 - 98,027,721 (+)Ensembl
RefSeq Acc Id: ENST00000518154   ⟹   ENSP00000429622
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl897,931,341 - 98,036,214 (+)Ensembl
RefSeq Acc Id: ENST00000518238
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl897,950,819 - 97,952,302 (+)Ensembl
RefSeq Acc Id: ENST00000518370
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,021,003 - 98,027,678 (+)Ensembl
RefSeq Acc Id: ENST00000519582   ⟹   ENSP00000430358
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,027,707 - 98,034,310 (+)Ensembl
RefSeq Acc Id: ENST00000519585   ⟹   ENSP00000429042
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl897,950,739 - 97,994,596 (+)Ensembl
RefSeq Acc Id: ENST00000520016   ⟹   ENSP00000430487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl897,887,977 - 98,036,212 (+)Ensembl
RefSeq Acc Id: ENST00000520160
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl897,887,834 - 97,931,106 (+)Ensembl
RefSeq Acc Id: ENST00000521041   ⟹   ENSP00000430396
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl897,931,425 - 98,003,734 (+)Ensembl
RefSeq Acc Id: ENST00000521689   ⟹   ENSP00000429977
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl897,868,840 - 98,035,978 (+)Ensembl
RefSeq Acc Id: ENST00000521952   ⟹   ENSP00000429256
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,007,479 - 98,035,703 (+)Ensembl
RefSeq Acc Id: ENST00000522025   ⟹   ENSP00000429010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl897,869,154 - 98,036,214 (+)Ensembl
RefSeq Acc Id: ENST00000522135   ⟹   ENSP00000429354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,032,249 - 98,033,772 (+)Ensembl
RefSeq Acc Id: ENST00000522270   ⟹   ENSP00000429825
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl897,961,482 - 98,007,502 (+)Ensembl
RefSeq Acc Id: ENST00000523490
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl897,869,113 - 98,004,286 (+)Ensembl
RefSeq Acc Id: ENST00000523561
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,031,442 - 98,036,158 (+)Ensembl
RefSeq Acc Id: ENST00000524308   ⟹   ENSP00000430221
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl897,869,111 - 98,036,210 (+)Ensembl
RefSeq Acc Id: NM_001317748   ⟹   NP_001304677
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38897,869,064 - 98,036,724 (+)NCBI
CHM1_1898,921,729 - 99,089,770 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002380   ⟹   NP_002371
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38897,869,064 - 98,036,724 (+)NCBI
GRCh37898,881,284 - 99,048,948 (+)NCBI
Build 36898,950,487 - 99,118,124 (+)NCBI Archive
HuRef894,085,242 - 94,252,686 (+)ENTREZGENE
CHM1_1898,921,729 - 99,089,770 (+)NCBI
Sequence:
RefSeq Acc Id: NM_030583   ⟹   NP_085072
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38897,869,064 - 98,036,724 (+)NCBI
GRCh37898,881,284 - 99,048,948 (+)NCBI
Build 36898,950,487 - 99,118,124 (+)NCBI Archive
HuRef894,085,242 - 94,252,686 (+)ENTREZGENE
CHM1_1898,921,729 - 99,089,770 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005250920   ⟹   XP_005250977
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38897,869,064 - 98,036,219 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013417   ⟹   XP_016868906
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38897,869,064 - 98,036,219 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013418   ⟹   XP_016868907
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38897,869,064 - 98,036,219 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002371   ⟸   NM_002380
- Peptide Label: isoform a precursor
- UniProtKB: O00339 (UniProtKB/Swiss-Prot),   A0A140VKH7 (UniProtKB/TrEMBL),   Q8N2G3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_085072   ⟸   NM_030583
- Peptide Label: isoform b precursor
- UniProtKB: O00339 (UniProtKB/Swiss-Prot),   Q8N2G3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005250977   ⟸   XM_005250920
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001304677   ⟸   NM_001317748
- Peptide Label: isoform c precursor
- UniProtKB: O00339 (UniProtKB/Swiss-Prot),   Q8N2G3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868907   ⟸   XM_017013418
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016868906   ⟸   XM_017013417
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000429885   ⟸   ENST00000517321
RefSeq Acc Id: ENSP00000254898   ⟸   ENST00000254898
RefSeq Acc Id: ENSP00000429622   ⟸   ENST00000518154
RefSeq Acc Id: ENSP00000430358   ⟸   ENST00000519582
RefSeq Acc Id: ENSP00000429042   ⟸   ENST00000519585
RefSeq Acc Id: ENSP00000430487   ⟸   ENST00000520016
RefSeq Acc Id: ENSP00000430396   ⟸   ENST00000521041
RefSeq Acc Id: ENSP00000429977   ⟸   ENST00000521689
RefSeq Acc Id: ENSP00000429256   ⟸   ENST00000521952
RefSeq Acc Id: ENSP00000429825   ⟸   ENST00000522270
RefSeq Acc Id: ENSP00000429354   ⟸   ENST00000522135
RefSeq Acc Id: ENSP00000429010   ⟸   ENST00000522025
RefSeq Acc Id: ENSP00000430221   ⟸   ENST00000524308
Protein Domains
EGF-like   EGF_CA   Matrilin_ccoil   VWFA

Promoters
RGD ID:7213841
Promoter ID:EPDNEW_H12666
Type:initiation region
Name:MATN2_3
Description:matrilin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12667  EPDNEW_H12668  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38897,868,933 - 97,868,993EPDNEW
RGD ID:7213843
Promoter ID:EPDNEW_H12667
Type:initiation region
Name:MATN2_1
Description:matrilin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12666  EPDNEW_H12668  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38897,869,115 - 97,869,175EPDNEW
RGD ID:7213845
Promoter ID:EPDNEW_H12668
Type:initiation region
Name:MATN2_2
Description:matrilin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12666  EPDNEW_H12667  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38897,887,920 - 97,887,980EPDNEW
RGD ID:6806652
Promoter ID:HG_KWN:61768
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:ENST00000254898,   ENST00000378716,   NM_002380,   NM_030583,   UC003YIB.1,   UC010MBH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36898,950,601 - 98,951,101 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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
NM_002380.3(MATN2):c.676G>A (p.Glu226Lys) single nucleotide variant Malignant melanoma [RCV000068449] Chr8:97931486 [GRCh38]
Chr8:98943714 [GRCh37]
Chr8:99012890 [NCBI36]
Chr8:8q22.2
not provided
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 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 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 8q21.13-24.3(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 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 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 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 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 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 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 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
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(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_002380.5(MATN2):c.408T>G (p.Thr136=) single nucleotide variant not provided [RCV000959681] Chr8:97931218 [GRCh38]
Chr8:98943446 [GRCh37]
Chr8:8q22.2
benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_002380.5(MATN2):c.41G>C (p.Gly14Ala) single nucleotide variant not provided [RCV000959680] Chr8:97888141 [GRCh38]
Chr8:98900369 [GRCh37]
Chr8:8q22.1
benign
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 8q22.1(chr8:96646399-98973327)x3 copy number gain not provided [RCV001006122] Chr8:96646399..98973327 [GRCh37]
Chr8:8q22.1
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6908 AgrOrtholog
COSMIC MATN2 COSMIC
Ensembl Genes ENSG00000132561 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000254898 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429010 UniProtKB/Swiss-Prot
  ENSP00000429042 UniProtKB/TrEMBL
  ENSP00000429256 UniProtKB/TrEMBL
  ENSP00000429354 UniProtKB/TrEMBL
  ENSP00000429622 UniProtKB/TrEMBL
  ENSP00000429825 UniProtKB/TrEMBL
  ENSP00000429885 UniProtKB/TrEMBL
  ENSP00000429977 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430221 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430358 UniProtKB/TrEMBL
  ENSP00000430396 UniProtKB/TrEMBL
  ENSP00000430487 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000254898 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517321 UniProtKB/TrEMBL
  ENST00000518154 UniProtKB/TrEMBL
  ENST00000519582 UniProtKB/TrEMBL
  ENST00000519585 UniProtKB/TrEMBL
  ENST00000520016 UniProtKB/Swiss-Prot
  ENST00000521041 UniProtKB/TrEMBL
  ENST00000521689 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000521952 UniProtKB/TrEMBL
  ENST00000522025 UniProtKB/Swiss-Prot
  ENST00000522135 UniProtKB/TrEMBL
  ENST00000522270 UniProtKB/TrEMBL
  ENST00000524308 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000132561 GTEx
HGNC ID HGNC:6908 ENTREZGENE
Human Proteome Map MATN2 Human Proteome Map
InterPro cEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Matrilin-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Matrilin_cc_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Matrilin_coiled-coil_trimer UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  vWFA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4147 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4147 ENTREZGENE
OMIM 602108 OMIM
PANTHER PTHR24020:SF35 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam cEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Matrilin_ccoil UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30651 PharmGKB
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Matrilin_ccoil UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF58002 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9B9_HUMAN UniProtKB/TrEMBL
  A0A024R9H1_HUMAN UniProtKB/TrEMBL
  A0A140VKH7 ENTREZGENE, UniProtKB/TrEMBL
  E5RJM4_HUMAN UniProtKB/TrEMBL
  H0YBD5_HUMAN UniProtKB/TrEMBL
  H0YBF2_HUMAN UniProtKB/TrEMBL
  H0YBJ4_HUMAN UniProtKB/TrEMBL
  H0YBM3_HUMAN UniProtKB/TrEMBL
  H0YBN2_HUMAN UniProtKB/TrEMBL
  H0YBU5_HUMAN UniProtKB/TrEMBL
  H0YBV5_HUMAN UniProtKB/TrEMBL
  MATN2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8N2G3 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K106 UniProtKB/Swiss-Prot
  E7EW74 UniProtKB/Swiss-Prot
  E9PD48 UniProtKB/Swiss-Prot
  E9PGL2 UniProtKB/Swiss-Prot
  Q6UWA5 UniProtKB/Swiss-Prot
  Q7Z5X1 UniProtKB/Swiss-Prot
  Q8NDE6 UniProtKB/Swiss-Prot
  Q96FT5 UniProtKB/Swiss-Prot
  Q9NSZ1 UniProtKB/Swiss-Prot