AGR2 (anterior gradient 2, protein disulphide isomerase family member) - Rat Genome Database

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Gene: AGR2 (anterior gradient 2, protein disulphide isomerase family member) Homo sapiens
Analyze
Symbol: AGR2
Name: anterior gradient 2, protein disulphide isomerase family member
RGD ID: 1312142
HGNC Page HGNC
Description: Enables dystroglycan binding activity; epidermal growth factor receptor binding activity; and identical protein binding activity. Involved in several processes, including positive regulation of cell-substrate adhesion; positive regulation of protein localization to plasma membrane; and positive regulation of signal transduction. Located in endoplasmic reticulum and extracellular space. Biomarker of breast cancer; pancreatic ductal adenocarcinoma; and pancreatic ductal carcinoma.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: AG-2; AG2; anterior gradient 2 homolog; anterior gradient 2 homolog (xenopus laevis); anterior gradient homolog 2; anterior gradient protein 2 homolog; epididymis secretory protein Li 116; GOB-4; HAG-2; HEL-S-116; HPC8; PDIA17; protein disulfide isomerase family A, member 17; secreted cement gland homolog; secreted cement gland protein XAG-2 homolog; XAG-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 Ensembl716,791,811 - 16,833,433 (-)EnsemblGRCh38hg38GRCh38
GRCh38716,791,811 - 16,804,999 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37716,831,435 - 16,844,623 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36716,797,960 - 16,811,133 (-)NCBINCBI36hg18NCBI36
Build 34716,604,675 - 16,617,848NCBI
Celera716,812,569 - 16,825,043 (-)NCBI
Cytogenetic Map7p21.1NCBI
HuRef716,719,359 - 16,731,797 (-)NCBIHuRef
CHM1_1716,833,176 - 16,845,615 (-)NCBICHM1_1
CRA_TCAGchr7v2716,885,921 - 16,898,395 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Human Phenotype
References

Additional References at PubMed
PMID:8125298   PMID:9790916   PMID:10965104   PMID:12477932   PMID:12592373   PMID:12690205   PMID:12853948   PMID:12975309   PMID:15340161   PMID:15489334   PMID:15834940   PMID:15935701  
PMID:16169070   PMID:16189514   PMID:16222343   PMID:16551856   PMID:16713569   PMID:17255364   PMID:17457305   PMID:17694278   PMID:18029348   PMID:18801625   PMID:18829536   PMID:18973922  
PMID:19359471   PMID:19834055   PMID:20048076   PMID:20299546   PMID:20403997   PMID:20525245   PMID:20525379   PMID:20550709   PMID:20706999   PMID:20877624   PMID:20888340   PMID:20945500  
PMID:21144054   PMID:21151833   PMID:21200134   PMID:21281432   PMID:21454516   PMID:21768879   PMID:21832049   PMID:21873635   PMID:21948970   PMID:22025610   PMID:22072305   PMID:22147918  
PMID:22184114   PMID:22231555   PMID:22430137   PMID:22467239   PMID:22521076   PMID:22605983   PMID:22659167   PMID:22748473   PMID:22752467   PMID:22828706   PMID:22911164   PMID:22945649  
PMID:22945652   PMID:23220234   PMID:23274113   PMID:23348903   PMID:23382691   PMID:23386860   PMID:23402259   PMID:23438482   PMID:23648065   PMID:23834814   PMID:24177142   PMID:24251762  
PMID:24490732   PMID:24587138   PMID:24710632   PMID:24717913   PMID:24794000   PMID:24920423   PMID:24960290   PMID:24976026   PMID:25100862   PMID:25111734   PMID:25147182   PMID:25186196  
PMID:25237833   PMID:25367337   PMID:25416956   PMID:25418581   PMID:25663596   PMID:25666625   PMID:25666661   PMID:25871396   PMID:25875093   PMID:25910212   PMID:25937245   PMID:25956506  
PMID:26079208   PMID:26169982   PMID:26209609   PMID:26445321   PMID:26608373   PMID:26733232   PMID:26841866   PMID:26876500   PMID:26894971   PMID:27063095   PMID:27107014   PMID:27240165  
PMID:27283903   PMID:27684187   PMID:27926873   PMID:28238761   PMID:28339048   PMID:28402678   PMID:28408318   PMID:28481872   PMID:28671019   PMID:28714365   PMID:28808255   PMID:28810836  
PMID:29107102   PMID:29138453   PMID:29267283   PMID:29269202   PMID:29410027   PMID:29427622   PMID:29650332   PMID:29872149   PMID:30055941   PMID:30086457   PMID:30195077   PMID:30295739  
PMID:30575818   PMID:30647455   PMID:30665445   PMID:30991076   PMID:31040128   PMID:31128106   PMID:31178140   PMID:31202462   PMID:31436131   PMID:31614132   PMID:31856843   PMID:31894252  
PMID:32234873   PMID:32296183   PMID:32493835   PMID:32814053   PMID:33278424   PMID:33413231   PMID:34065225  


Genomics

Comparative Map Data
AGR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl716,791,811 - 16,833,433 (-)EnsemblGRCh38hg38GRCh38
GRCh38716,791,811 - 16,804,999 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37716,831,435 - 16,844,623 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36716,797,960 - 16,811,133 (-)NCBINCBI36hg18NCBI36
Build 34716,604,675 - 16,617,848NCBI
Celera716,812,569 - 16,825,043 (-)NCBI
Cytogenetic Map7p21.1NCBI
HuRef716,719,359 - 16,731,797 (-)NCBIHuRef
CHM1_1716,833,176 - 16,845,615 (-)NCBICHM1_1
CRA_TCAGchr7v2716,885,921 - 16,898,395 (-)NCBI
Agr2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391236,042,924 - 36,054,080 (+)NCBIGRCm39mm39
GRCm39 Ensembl1236,042,906 - 36,054,086 (+)Ensembl
GRCm381235,992,925 - 36,004,081 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1235,992,907 - 36,004,087 (+)EnsemblGRCm38mm10GRCm38
MGSCv371236,719,512 - 36,730,668 (+)NCBIGRCm37mm9NCBIm37
MGSCv361236,503,191 - 36,514,347 (+)NCBImm8
Celera1237,446,354 - 37,457,458 (+)NCBICelera
Cytogenetic Map12A3NCBI
Agr2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2652,708,602 - 52,729,378 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl655,465,782 - 55,487,714 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0655,465,782 - 55,487,087 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0665,081,213 - 65,102,524 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4654,695,633 - 54,716,858 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1654,709,609 - 54,719,927 (+)NCBI
Celera651,855,174 - 51,875,917 (+)NCBICelera
Cytogenetic Map6q16NCBI
Agr2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541019,984,768 - 19,995,733 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541019,984,768 - 19,995,446 (-)NCBIChiLan1.0ChiLan1.0
AGR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1716,773,281 - 16,785,721 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl716,773,281 - 16,785,879 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0717,446,275 - 17,489,802 (-)NCBIMhudiblu_PPA_v0panPan3
AGR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11431,303,784 - 31,316,752 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1431,305,567 - 31,316,686 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1430,825,073 - 30,838,046 (-)NCBI
ROS_Cfam_1.01431,224,288 - 31,237,241 (-)NCBI
UMICH_Zoey_3.11431,326,448 - 31,339,401 (-)NCBI
UNSW_CanFamBas_1.01431,038,306 - 31,051,283 (-)NCBI
UU_Cfam_GSD_1.01431,351,630 - 31,364,787 (-)NCBI
Agr2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511875,641,522 - 75,654,857 (-)NCBI
SpeTri2.0NW_0049365463,316,622 - 3,328,317 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AGR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl986,039,015 - 86,053,857 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1986,042,070 - 86,053,893 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2994,843,416 - 94,855,248 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AGR2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12141,311,250 - 41,324,806 (+)NCBI
ChlSab1.1 Ensembl2141,312,415 - 41,326,663 (+)Ensembl
Vero_WHO_p1.0NW_02366604263,184,604 - 63,199,875 (-)NCBI
Agr2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473913,428,049 - 13,440,949 (+)NCBI

Position Markers
GDB:1318074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37716,845,393 - 16,845,560UniSTSGRCh37
Build 36716,811,918 - 16,812,085RGDNCBI36
Celera716,825,697 - 16,825,864RGD
Cytogenetic Map7p21.3UniSTS
HuRef716,732,451 - 16,732,618UniSTS
CRA_TCAGchr7v2716,899,049 - 16,899,216UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1419
Count of miRNA genes:780
Interacting mature miRNAs:908
Transcripts:ENST00000401412, ENST00000412973, ENST00000419304, ENST00000419572, ENST00000450569, ENST00000468419, ENST00000486219, ENST00000489523
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 pharyngeal arch
High 109 5 33 6 6 2 10 20 28
Medium 887 4 337 160 151 37 28 12 252 82 378 620 129 1 3 8 1 2
Low 342 88 720 109 97 102 1250 75 93 172 602 807 13 75 675 3
Below cutoff 921 1940 544 237 765 235 2009 1532 2231 66 401 115 2 841 1443

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_006408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC073333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF007791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF038451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF038452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF087879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF088867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF115926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX231601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY359009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF680655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS488906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ070893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ224307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ767789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ767790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ767791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ767792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ767793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000401412   ⟹   ENSP00000386025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl716,794,674 - 16,804,987 (-)Ensembl
RefSeq Acc Id: ENST00000412973   ⟹   ENSP00000411969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl716,797,631 - 16,833,433 (-)Ensembl
RefSeq Acc Id: ENST00000419304   ⟹   ENSP00000391490
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl716,791,811 - 16,804,999 (-)Ensembl
RefSeq Acc Id: ENST00000450569   ⟹   ENSP00000414806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl716,792,640 - 16,801,196 (-)Ensembl
RefSeq Acc Id: ENST00000468419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl716,801,284 - 16,804,999 (-)Ensembl
RefSeq Acc Id: ENST00000486219
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl716,803,145 - 16,804,995 (-)Ensembl
RefSeq Acc Id: ENST00000489523
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl716,799,574 - 16,804,999 (-)Ensembl
RefSeq Acc Id: NM_006408   ⟹   NP_006399
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38716,791,811 - 16,804,999 (-)NCBI
GRCh37716,831,437 - 16,844,738 (-)NCBI
Build 36716,797,960 - 16,811,133 (-)NCBI Archive
HuRef716,719,359 - 16,731,797 (-)ENTREZGENE
CHM1_1716,833,176 - 16,845,615 (-)NCBI
CRA_TCAGchr7v2716,885,921 - 16,898,395 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_005249581   ⟹   XP_005249638
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38716,791,811 - 16,804,999 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006399   ⟸   NM_006408
- Peptide Label: precursor
- UniProtKB: O95994 (UniProtKB/Swiss-Prot),   Q4JM46 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005249638   ⟸   XM_005249581
- Peptide Label: isoform X1
- UniProtKB: O95994 (UniProtKB/Swiss-Prot),   Q4JM46 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000414806   ⟸   ENST00000450569
RefSeq Acc Id: ENSP00000411969   ⟸   ENST00000412973
RefSeq Acc Id: ENSP00000386025   ⟸   ENST00000401412
RefSeq Acc Id: ENSP00000391490   ⟸   ENST00000419304

Promoters
RGD ID:7209995
Promoter ID:EPDNEW_H10743
Type:initiation region
Name:AGR2_1
Description:anterior gradient 2, protein disulphide isomerase family member
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
GRCh38716,804,995 - 16,805,055EPDNEW
RGD ID:6805222
Promoter ID:HG_KWN:56410
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000401412,   OTTHUMT00000207594,   OTTHUMT00000326381,   OTTHUMT00000326382,   OTTHUMT00000326383
Position:
Human AssemblyChrPosition (strand)Source
Build 36716,811,116 - 16,811,817 (-)MPROMDB
RGD ID:6851300
Promoter ID:EP73448
Type:multiple initiation site
Name:HS_AGR2
Description:Anterior gradient 2 homolog (Xenepus laevis).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36716,811,144 - 16,811,204EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1
pathogenic
GRCh38/hg38 7p21.3-15.3(chr7:8274775-21988311)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052280]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052280]|See cases [RCV000052280] Chr7:8274775..21988311 [GRCh38]
Chr7:8314405..22027929 [GRCh37]
Chr7:8280930..21994454 [NCBI36]
Chr7:7p21.3-15.3
pathogenic
GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1 copy number loss See cases [RCV000052281] Chr7:9975653..19356878 [GRCh38]
Chr7:10015280..19396501 [GRCh37]
Chr7:9981805..19363026 [NCBI36]
Chr7:7p21.3-21.1
pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:14959516-19467349)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052288]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052288]|See cases [RCV000052288] Chr7:14959516..19467349 [GRCh38]
Chr7:14999141..19506972 [GRCh37]
Chr7:14965666..19473497 [NCBI36]
Chr7:7p21.2-21.1
pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1 copy number loss See cases [RCV000052289] Chr7:15133711..19642829 [GRCh38]
Chr7:15173336..19682452 [GRCh37]
Chr7:15139861..19648977 [NCBI36]
Chr7:7p21.2-21.1
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3
pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2
pathogenic
GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3 copy number gain See cases [RCV000053531] Chr7:16234212..26167278 [GRCh38]
Chr7:16273837..26206898 [GRCh37]
Chr7:16240362..26173423 [NCBI36]
Chr7:7p21.2-15.2
pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:14904894-16925094)x1 copy number loss See cases [RCV000133737] Chr7:14904894..16925094 [GRCh38]
Chr7:14944519..16964718 [GRCh37]
Chr7:14911044..16931243 [NCBI36]
Chr7:7p21.2-21.1
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:13966197-18321354)x1 copy number loss See cases [RCV000136932] Chr7:13966197..18321354 [GRCh38]
Chr7:14005822..18360977 [GRCh37]
Chr7:13972347..18327502 [NCBI36]
Chr7:7p21.2-21.1
pathogenic
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3 copy number gain See cases [RCV000136649] Chr7:5682209..27230311 [GRCh38]
Chr7:5721840..27269930 [GRCh37]
Chr7:5688366..27236455 [NCBI36]
Chr7:7p22.1-15.2
pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)x1 copy number loss See cases [RCV000137236] Chr7:16121516..20607899 [GRCh38]
Chr7:16161141..20647522 [GRCh37]
Chr7:16127666..20614047 [NCBI36]
Chr7:7p21.2-21.1
pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3
pathogenic
GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1 copy number loss See cases [RCV000137924] Chr7:15533812..24851432 [GRCh38]
Chr7:15573437..24891051 [GRCh37]
Chr7:15539962..24857576 [NCBI36]
Chr7:7p21.2-15.3
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1 copy number loss See cases [RCV000142708] Chr7:10610069..25760560 [GRCh38]
Chr7:10649696..25800180 [GRCh37]
Chr7:10616221..25766705 [NCBI36]
Chr7:7p21.3-15.2
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh37/hg19 7p21.1(chr7:16838232-17753807)x3 copy number gain See cases [RCV000511336] Chr7:16838232..17753807 [GRCh37]
Chr7:7p21.1
uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 copy number gain See cases [RCV000446478] Chr7:11562624..36395416 [GRCh37]
Chr7:7p21.3-14.2
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3
pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3
pathogenic
GRCh37/hg19 7p21.2-21.1(chr7:14675063-18907030)x1 copy number loss See cases [RCV000511411] Chr7:14675063..18907030 [GRCh37]
Chr7:7p21.2-21.1
likely pathogenic
GRCh37/hg19 7p21.3-21.1(chr7:7660104-18400293)x3 copy number gain See cases [RCV000511575] Chr7:7660104..18400293 [GRCh37]
Chr7:7p21.3-21.1
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p21.1(chr7:16717618-16847653)x1 copy number loss not provided [RCV000682793] Chr7:16717618..16847653 [GRCh37]
Chr7:7p21.1
uncertain significance
GRCh37/hg19 7p21.1(chr7:16515348-17451988)x3 copy number gain not provided [RCV000682876] Chr7:16515348..17451988 [GRCh37]
Chr7:7p21.1
uncertain significance
GRCh37/hg19 7p21.2-15.3(chr7:14544155-21719929)x3 copy number gain not provided [RCV000682908] Chr7:14544155..21719929 [GRCh37]
Chr7:7p21.2-15.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p21.2-21.1(chr7:13886653-20267202)x1 copy number loss not provided [RCV001005911] Chr7:13886653..20267202 [GRCh37]
Chr7:7p21.2-21.1
pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1
pathogenic
GRCh37/hg19 7p21.1(chr7:16838232-17753807)x3 copy number gain not provided [RCV001005920] Chr7:16838232..17753807 [GRCh37]
Chr7:7p21.1
likely benign
GRCh37/hg19 7p21.1(chr7:16534711-17205201)x3 copy number gain not provided [RCV000846173] Chr7:16534711..17205201 [GRCh37]
Chr7:7p21.1
uncertain significance
GRCh37/hg19 7p21.2-21.1(chr7:16027951-17081157)x3 copy number gain not provided [RCV001005919] Chr7:16027951..17081157 [GRCh37]
Chr7:7p21.2-21.1
likely benign
GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1 copy number loss Saethre-Chotzen syndrome [RCV001263216] Chr7:14470668..20385165 [GRCh37]
Chr7:7p21.2-21.1
pathogenic
GRCh37/hg19 7p21.2-21.1(chr7:16279316-18429845)x1 copy number loss not provided [RCV001259423] Chr7:16279316..18429845 [GRCh37]
Chr7:7p21.2-21.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:328 AgrOrtholog
COSMIC AGR2 COSMIC
Ensembl Genes ENSG00000106541 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000386025 UniProtKB/TrEMBL
  ENSP00000391490 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000411969 UniProtKB/TrEMBL
  ENSP00000414806 UniProtKB/TrEMBL
Ensembl Transcript ENST00000401412 UniProtKB/TrEMBL
  ENST00000412973 UniProtKB/TrEMBL
  ENST00000419304 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000450569 UniProtKB/TrEMBL
Gene3D-CATH 3.40.30.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000106541 GTEx
HGNC ID HGNC:328 ENTREZGENE
Human Proteome Map AGR2 Human Proteome Map
InterPro Thioredoxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10551 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10551 ENTREZGENE
OMIM 606358 OMIM
PharmGKB PA24625 PharmGKB
Superfamily-SCOP SSF52833 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt AGR2_HUMAN UniProtKB/Swiss-Prot
  B5MC07_HUMAN UniProtKB/TrEMBL
  C9J3E2_HUMAN UniProtKB/TrEMBL
  H7C3Z9_HUMAN UniProtKB/TrEMBL
  O95994 ENTREZGENE
  Q4JM46 ENTREZGENE, UniProtKB/TrEMBL
  Q4JM47_HUMAN UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-07-07 AGR2  anterior gradient 2, protein disulphide isomerase family member    anterior gradient 2  Symbol and/or name change 5135510 APPROVED
2013-08-06 AGR2  anterior gradient 2    anterior gradient 2 homolog (Xenopus laevis)  Symbol and/or name change 5135510 APPROVED
2011-11-22 AGR2  anterior gradient 2 homolog (Xenopus laevis)  AGR2  anterior gradient homolog 2 (Xenopus laevis)  Symbol and/or name change 5135510 APPROVED