ANXA2R (annexin A2 receptor) - Rat Genome Database

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Gene: ANXA2R (annexin A2 receptor) Homo sapiens
Analyze
Symbol: ANXA2R
Name: annexin A2 receptor
RGD ID: 1605501
HGNC Page HGNC:33463
Description: Predicted to enable signaling receptor activity.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: annexin II receptor; annexin-2 receptor; AX2R; AXIIR; C5orf39
RGD Orthologs
Mouse
Bonobo
Pig
Green Monkey
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
GRCh38543,039,371 - 43,043,247 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl543,039,233 - 43,043,170 (-)EnsemblGRCh38hg38GRCh38
GRCh37543,039,473 - 43,043,349 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36543,074,939 - 43,076,098 (-)NCBINCBI36Build 36hg18NCBI36
Celera542,928,300 - 42,929,565 (-)NCBICelera
Cytogenetic Map5p12NCBI
HuRef542,990,268 - 42,991,533 (-)NCBIHuRef
CHM1_1543,040,476 - 43,041,741 (-)NCBICHM1_1
T2T-CHM13v2.0543,292,233 - 43,296,108 (-)NCBIT2T-CHM13v2.0
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

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10359570   PMID:12477932   PMID:15146197   PMID:16895901   PMID:18636554   PMID:19322201   PMID:22223826   PMID:23640736   PMID:25633185   PMID:27183438   PMID:27789685   PMID:29694949  
PMID:30833792   PMID:31067453  


Genomics

Comparative Map Data
ANXA2R
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38543,039,371 - 43,043,247 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl543,039,233 - 43,043,170 (-)EnsemblGRCh38hg38GRCh38
GRCh37543,039,473 - 43,043,349 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36543,074,939 - 43,076,098 (-)NCBINCBI36Build 36hg18NCBI36
Celera542,928,300 - 42,929,565 (-)NCBICelera
Cytogenetic Map5p12NCBI
HuRef542,990,268 - 42,991,533 (-)NCBIHuRef
CHM1_1543,040,476 - 43,041,741 (-)NCBICHM1_1
T2T-CHM13v2.0543,292,233 - 43,296,108 (-)NCBIT2T-CHM13v2.0
Anxa2r2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913120,487,820 - 120,488,915 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl13120,487,821 - 120,488,773 (-)EnsemblGRCm39 Ensembl
GRCm3813120,026,284 - 120,027,379 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl13120,026,439 - 120,027,011 (-)EnsemblGRCm38mm10GRCm38
Cytogenetic Map13D2.3NCBI
ANXA2R
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2467,289,727 - 67,290,587 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1565,440,897 - 65,444,212 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0567,335,346 - 67,338,556 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1572,382,734 - 72,383,993 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl572,383,027 - 72,383,608 (+)Ensemblpanpan1.1panPan2
ANXA2R
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11627,744,342 - 27,744,896 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
ANXA2R
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366607132,206,263 - 32,208,855 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in ANXA2R
8 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12		 pathogenic
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1		 pathogenic
GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3 copy number gain See cases [RCV000051835] Chr5:35700480..45260029 [GRCh38]
Chr5:35700582..45260131 [GRCh37]
Chr5:35736339..45295888 [NCBI36]
Chr5:5p13.2-12		 pathogenic
GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3 copy number gain See cases [RCV000051836] Chr5:36374107..51103841 [GRCh38]
Chr5:36374209..50399675 [GRCh37]
Chr5:36409966..50435432 [NCBI36]
Chr5:5p13.2-q11.1		 pathogenic
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 copy number gain See cases [RCV001310288] Chr5:29081195..45294031 [GRCh37]
Chr5:5p13.3-12		 pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11		 pathogenic
GRCh38/hg38 5p12(chr5:42804738-43066986)x1 copy number loss See cases [RCV000136834] Chr5:42804738..43066986 [GRCh38]
Chr5:42804840..43067088 [GRCh37]
Chr5:42840597..43102845 [NCBI36]
Chr5:5p12		 benign
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1		 pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh38/hg38 5p12(chr5:42720837-43251761)x3 copy number gain See cases [RCV000143351] Chr5:42720837..43251761 [GRCh38]
Chr5:42720939..43251863 [GRCh37]
Chr5:42756696..43287620 [NCBI36]
Chr5:5p12		 uncertain significance
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3 copy number gain See cases [RCV000512120] Chr5:24281195..46389339 [GRCh37]
Chr5:5p14.2-11		 likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 copy number gain not provided [RCV000682542] Chr5:27227243..45685844 [GRCh37]
Chr5:5p14.1-12		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p13.3-12(chr5:31351588-43480111)x3 copy number gain not provided [RCV000744593] Chr5:31351588..43480111 [GRCh37]
Chr5:5p13.3-12		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p12(chr5:42978644-43161568)x3 copy number gain not provided [RCV000744676] Chr5:42978644..43161568 [GRCh37]
Chr5:5p12		 benign
GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3 copy number gain not provided [RCV000848003] Chr5:34453883..46389339 [GRCh37]
Chr5:5p13.2-11		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
GRCh37/hg19 5p12(chr5:42802309-43040495)x1 copy number loss not provided [RCV000846615] Chr5:42802309..43040495 [GRCh37]
Chr5:5p12		 uncertain significance
NM_001014279.3(ANXA2R):c.451C>T (p.Pro151Ser) single nucleotide variant Inborn genetic diseases [RCV003292131] Chr5:43039596 [GRCh38]
Chr5:43039698 [GRCh37]
Chr5:5p12		 uncertain significance
NM_001014279.3(ANXA2R):c.391G>A (p.Asp131Asn) single nucleotide variant Inborn genetic diseases [RCV003272224] Chr5:43039656 [GRCh38]
Chr5:43039758 [GRCh37]
Chr5:5p12		 uncertain significance
GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)x3 copy number gain not provided [RCV001005674] Chr5:38432180..49441945 [GRCh37]
Chr5:5p13.1-q11.1		 pathogenic
GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3 copy number gain musculoskeletal system issues [RCV002284293] Chr5:36053583..46389339 [GRCh37]
Chr5:5p13.2-11		 pathogenic
GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3 copy number gain not provided [RCV001537930] Chr5:34984696..46405042 [GRCh37]
Chr5:5p13.2-11		 pathogenic
GRCh37/hg19 5p14.1-11(chr5:26382110-46389339) copy number gain not specified [RCV002053485] Chr5:26382110..46389339 [GRCh37]
Chr5:5p14.1-11		 pathogenic
NC_000005.9:g.(?_42688972)_(44388784_?)del deletion not provided [RCV001956361] Chr5:42688972..44388784 [GRCh37]
Chr5:5p12		 pathogenic
GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3 copy number gain not provided [RCV002474514] Chr5:29348753..46389339 [GRCh37]
Chr5:5p13.3-11		 pathogenic
NM_001014279.3(ANXA2R):c.449C>T (p.Pro150Leu) single nucleotide variant Inborn genetic diseases [RCV002821610] Chr5:43039598 [GRCh38]
Chr5:43039700 [GRCh37]
Chr5:5p12		 uncertain significance
NM_001014279.3(ANXA2R):c.497T>C (p.Leu166Pro) single nucleotide variant Inborn genetic diseases [RCV002986583] Chr5:43039550 [GRCh38]
Chr5:43039652 [GRCh37]
Chr5:5p12		 uncertain significance
NM_001014279.3(ANXA2R):c.344G>C (p.Arg115Thr) single nucleotide variant Inborn genetic diseases [RCV002849864] Chr5:43039703 [GRCh38]
Chr5:43039805 [GRCh37]
Chr5:5p12		 uncertain significance
NM_001014279.3(ANXA2R):c.413T>G (p.Val138Gly) single nucleotide variant Inborn genetic diseases [RCV002984753] Chr5:43039634 [GRCh38]
Chr5:43039736 [GRCh37]
Chr5:5p12		 uncertain significance
NM_001014279.3(ANXA2R):c.67C>G (p.Gln23Glu) single nucleotide variant Inborn genetic diseases [RCV003175833] Chr5:43039980 [GRCh38]
Chr5:43040082 [GRCh37]
Chr5:5p12		 uncertain significance
NM_001014279.3(ANXA2R):c.34G>A (p.Ala12Thr) single nucleotide variant Inborn genetic diseases [RCV003361398] Chr5:43040013 [GRCh38]
Chr5:43040115 [GRCh37]
Chr5:5p12		 uncertain significance
GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3 copy number gain See cases [RCV003482191] Chr5:29299893..45899898 [GRCh38]
Chr5:5p13.3-12		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:112
Count of miRNA genes:103
Interacting mature miRNAs:108
Transcripts:ENST00000314890
Prediction methods:Miranda, Rnahybrid
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.

Markers in Region
RH41910  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37543,039,498 - 43,039,620UniSTSGRCh37
Build 36543,075,255 - 43,075,377RGDNCBI36
Celera542,928,616 - 42,928,738RGD
Cytogenetic Map5p12UniSTS
HuRef542,990,584 - 42,990,706UniSTS
GeneMap99-GB4 RH Map5158.46UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 68 154 19 3 544 4 10 6 12 27 52 68 13 3
Low 2332 2726 1568 483 1395 328 4061 2011 2655 361 1384 1529 167 1191 2678 4
Below cutoff 34 108 139 136 9 133 214 180 1060 31 24 15 6 107 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000314890   ⟹   ENSP00000315915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,039,233 - 43,043,170 (-)Ensembl
RefSeq Acc Id: ENST00000616064   ⟹   ENSP00000479862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,039,371 - 43,040,319 (-)Ensembl
RefSeq Acc Id: NM_001014279   ⟹   NP_001014301
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38543,039,371 - 43,040,319 (-)NCBI
GRCh37543,039,182 - 43,040,447 (-)RGD
Build 36543,074,939 - 43,076,098 (-)NCBI Archive
Celera542,928,300 - 42,929,565 (-)RGD
HuRef542,990,268 - 42,991,533 (-)RGD
CHM1_1543,040,476 - 43,041,741 (-)NCBI
T2T-CHM13v2.0543,292,233 - 43,293,181 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382352   ⟹   NP_001369281
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38543,039,371 - 43,043,247 (-)NCBI
T2T-CHM13v2.0543,292,233 - 43,296,108 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001014301   ⟸   NM_001014279
- UniProtKB: Q8NHX5 (UniProtKB/Swiss-Prot),   Q3ZCQ2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001369281   ⟸   NM_001382352
- UniProtKB: Q3ZCQ2 (UniProtKB/Swiss-Prot),   Q8NHX5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000479862   ⟸   ENST00000616064
RefSeq Acc Id: ENSP00000315915   ⟸   ENST00000314890

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q3ZCQ2-F1-model_v2 AlphaFold Q3ZCQ2 1-193 view protein structure

Promoters
RGD ID:6802912
Promoter ID:HG_KWN:50059
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001014279,   UC003JNF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36543,075,426 - 43,076,902 (-)MPROMDB
RGD ID:6802911
Promoter ID:HG_KWN:50062
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour,   HeLa_S3,   Lymphoblastoid
Transcripts:ENST00000314890
Position:
Human AssemblyChrPosition (strand)Source
Build 36543,078,716 - 43,079,216 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33463 AgrOrtholog
COSMIC ANXA2R COSMIC
Ensembl Genes ENSG00000177721 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000314890 ENTREZGENE
  ENST00000314890.3 UniProtKB/Swiss-Prot
  ENST00000616064 ENTREZGENE
  ENST00000616064.2 UniProtKB/Swiss-Prot
GTEx ENSG00000177721 GTEx
HGNC ID HGNC:33463 ENTREZGENE
Human Proteome Map ANXA2R Human Proteome Map
InterPro ANXA2R UniProtKB/Swiss-Prot
KEGG Report hsa:389289 UniProtKB/Swiss-Prot
NCBI Gene 389289 ENTREZGENE
OMIM 611296 OMIM
PANTHER ANNEXIN-2 RECEPTOR UniProtKB/Swiss-Prot
  PTHR38820 UniProtKB/Swiss-Prot
Pfam ANXA2R UniProtKB/Swiss-Prot
PharmGKB PA162380171 PharmGKB
UniProt AX2R_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8NHX5 ENTREZGENE
UniProt Secondary Q8NHX5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-03-13 ANXA2R  annexin A2 receptor  C5orf39  chromosome 5 open reading frame 39  Symbol and/or name change 5135510 APPROVED