Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | EPHA7 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | EPHA7 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | Regional expression and ultrastructural localization of EphA7 in the hippocampus and cerebellum of adult rat. | Amegandjin CA, etal., J Comp Neurol. 2016 Aug 15;524(12):2462-78. doi: 10.1002/cne.23962. Epub 2016 Feb 26. |
2. | The junction-associated protein AF-6 interacts and clusters with specific Eph receptor tyrosine kinases at specialized sites of cell-cell contact in the brain. | Buchert M, etal., J Cell Biol. 1999 Jan 25;144(2):361-71. |
3. | Inhibition of EphA7 up-regulation after spinal cord injury reduces apoptosis and promotes locomotor recovery. | Figueroa JD, etal., J Neurosci Res. 2006 Nov 15;84(7):1438-51. |
4. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
5. | Ephrin-A binding and EphA receptor expression delineate the matrix compartment of the striatum. | Janis LS, etal., J Neurosci. 1999 Jun 15;19(12):4962-71. |
6. | Expression of Eph receptors in skeletal muscle and their localization at the neuromuscular junction. | Lai KO, etal., Mol Cell Neurosci. 2001 Jun;17(6):1034-47. |
7. | Distinct expression patterns of eph receptors and ephrins relate to the structural organization of the adult rat peripheral vestibular system. | Matsunaga T, etal., Eur J Neurosci 2000 May;12(5):1599-616. |
8. | Gene Data Set | MGD Curation, June 12, 2002 |
9. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
10. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
11. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
12. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
13. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
14. | The role of ephrins and Eph receptors in cancer. | Surawska H, etal., Cytokine Growth Factor Rev 2004 Dec;15(6):419-33. |
15. | PDZ proteins bind, cluster, and synaptically colocalize with Eph receptors and their ephrin ligands. | Torres R, etal., Neuron. 1998 Dec;21(6):1453-63. |
16. | Identification of full-length and truncated forms of Ehk-3, a novel member of the Eph receptor tyrosine kinase family. | Valenzuela DM, etal., Oncogene 1995 Apr 20;10(8):1573-80. |
PMID:11089974 | PMID:15902206 | PMID:15996548 | PMID:16301174 | PMID:17726105 | PMID:19036963 | PMID:20576928 | PMID:23348681 | PMID:24707048 | PMID:25139858 | PMID:27405707 | PMID:30292674 |
PMID:32396496 |
Epha7 (Rattus norvegicus - Norway rat) |
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EPHA7 (Homo sapiens - human) |
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Epha7 (Mus musculus - house mouse) |
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Epha7 (Chinchilla lanigera - long-tailed chinchilla) |
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EPHA7 (Pan paniscus - bonobo/pygmy chimpanzee) |
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EPHA7 (Canis lupus familiaris - dog) |
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Epha7 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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EPHA7 (Sus scrofa - pig) |
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EPHA7 (Chlorocebus sabaeus - green monkey) |
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Epha7 (Heterocephalus glaber - naked mole-rat) |
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Variants in Epha7
719 total Variants |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
RH143595 |
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UniSTS:266990 |
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UniSTS:224539 |
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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 | appendage | |
High | |||||||||||||
Medium | 12 | 4 | 4 | 4 | 74 | 22 | 26 | ||||||
Low | 3 | 30 | 15 | 7 | 13 | 7 | 8 | 10 | 13 | 15 | 11 | 8 | |
Below cutoff | 1 | 35 | 27 | 6 | 27 |
RefSeq Transcripts | NM_134331 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006237962 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006237963 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006237964 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006237965 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008763587 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039109224 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039109225 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039109226 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063287118 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063287119 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | CH473962 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAXUCZ010000005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U21954 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U21955 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000009899 ⟹ ENSRNOP00000009899 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000102430 ⟹ ENSRNOP00000082816 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_134331 ⟹ NP_599158 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006237962 ⟹ XP_006238024 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006237963 ⟹ XP_006238025 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006237964 ⟹ XP_006238026 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006237965 ⟹ XP_006238027 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039109224 ⟹ XP_038965152 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039109225 ⟹ XP_038965153 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039109226 ⟹ XP_038965154 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063287118 ⟹ XP_063143188 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063287119 ⟹ XP_063143189 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_599158 | (Get FASTA) | NCBI Sequence Viewer |
XP_006238024 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006238025 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006238026 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006238027 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038965152 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038965153 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038965154 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063143188 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063143189 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA86830 | (Get FASTA) | NCBI Sequence Viewer |
AAA86831 | (Get FASTA) | NCBI Sequence Viewer | |
EDL98551 | (Get FASTA) | NCBI Sequence Viewer | |
EDL98552 | (Get FASTA) | NCBI Sequence Viewer | |
EDL98553 | (Get FASTA) | NCBI Sequence Viewer | |
EDL98554 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000009899 | ||
ENSRNOP00000009899.3 | |||
ENSRNOP00000082816 | |||
ENSRNOP00000082816.1 | |||
ENSRNOP00055013394 | |||
ENSRNOP00060018773 | |||
ENSRNOP00065006041 | |||
GenBank Protein | P54759 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_599158 ⟸ NM_134331 |
- Peptide Label: | precursor |
- UniProtKB: | P54759 (UniProtKB/Swiss-Prot), A6III2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006238027 ⟸ XM_006237965 |
- Peptide Label: | isoform X9 |
- UniProtKB: | A6III1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006238024 ⟸ XM_006237962 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8L2Q443 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006238025 ⟸ XM_006237963 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_006238026 ⟸ XM_006237964 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A8I5ZVN2 (UniProtKB/TrEMBL), A6III3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000009899 ⟸ ENSRNOT00000009899 |
RefSeq Acc Id: | XP_038965154 ⟸ XM_039109226 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_038965152 ⟸ XM_039109224 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038965153 ⟸ XM_039109225 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | ENSRNOP00000082816 ⟸ ENSRNOT00000102430 |
RefSeq Acc Id: | XP_063143188 ⟸ XM_063287118 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_063143189 ⟸ XM_063287119 |
- Peptide Label: | isoform X8 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P54759-F1-model_v2 | AlphaFold | P54759 | 1-998 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:70957 | AgrOrtholog |
BioCyc Gene | G2FUF-41762 | BioCyc |
Ensembl Genes | ENSRNOG00000007030 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
ENSRNOG00055009805 | UniProtKB/Swiss-Prot | |
ENSRNOG00060013822 | UniProtKB/Swiss-Prot | |
ENSRNOG00065005724 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENSRNOT00000009899.6 | UniProtKB/TrEMBL |
ENSRNOT00000102430.1 | UniProtKB/TrEMBL | |
ENSRNOT00055016616 | UniProtKB/Swiss-Prot | |
ENSRNOT00060023619 | UniProtKB/Swiss-Prot | |
ENSRNOT00065008564 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.10.150.50 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
2.60.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ephrin a2 ectodomain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Galactose-binding domain-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Transferase(Phosphotransferase) domain 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Tumor Necrosis Factor Receptor, subunit A, domain 2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | Eph_TM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
EphA7_rcpt_lig-bd | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ephrin_rcpt_lig-bd_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FN3_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FN3_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Galactose-bd-like_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Growth_fac_rcpt_cys_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig-like_fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Kinase-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Prot_kinase_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Protein_kinase_ATP_BS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SAM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SAM/pointed_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ser-Thr/Tyr_kinase_cat_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Tyr_kinase_AS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Tyr_kinase_cat_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Tyr_kinase_ephrin_rcpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Tyr_kinase_rcpt_V_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:171287 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 171287 | ENTREZGENE |
PANTHER | EPH RECEPTOR A5 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
EPHRIN TYPE-A RECEPTOR 7 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | EphA2_TM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ephrin_lbd | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
fn3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PK_Tyr_Ser-Thr | UniProtKB/TrEMBL, UniProtKB/Swiss-Prot | |
SAM_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Epha7 | PhenoGen |
PIRSF | TyrPK_ephrin_receptor | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PRINTS | FNTYPEIII | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TYRKINASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROSITE | EGF_2 | UniProtKB/Swiss-Prot |
EPH_LBD | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FN3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROTEIN_KINASE_ATP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROTEIN_KINASE_DOM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROTEIN_KINASE_TYR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RECEPTOR_TYR_KIN_V_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RECEPTOR_TYR_KIN_V_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SAM_DOMAIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RatGTEx | ENSRNOG00000007030 | RatGTEx |
ENSRNOG00055009805 | RatGTEx | |
ENSRNOG00060013822 | RatGTEx | |
ENSRNOG00065005724 | RatGTEx | |
SMART | EPH_lbd | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ephrin_rec_like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FN3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SAM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TyrKc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF47769 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF49265 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF49785 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF56112 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF57184 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A8I5ZVN2 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8L2Q443 | ENTREZGENE, UniProtKB/TrEMBL | |
A6III1 | ENTREZGENE, UniProtKB/TrEMBL | |
A6III2 | ENTREZGENE, UniProtKB/TrEMBL | |
A6III3 | ENTREZGENE, UniProtKB/TrEMBL | |
A6III4_RAT | UniProtKB/TrEMBL | |
EPHA7_RAT | UniProtKB/Swiss-Prot, ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2002-07-09 | Epha7 | Eph receptor A7 | Symbol and Name updated to reflect Human and Mouse nomenclature | 70877 | APPROVED |
Note Type | Note | Reference |
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gene_domains | protein contains a cysteine rich region and tandem fibronectin type III domains in its extracellular portion | 70732 |
gene_expression | mRNA is expressed in a developmentally-regulated fashion, restricted to nervous system in adult but more widely expressed in the embryo | 70732 |
gene_product | member of the Eph-related receptor family, the largest subfamily of receptor tyrosine kinases | 70732 |