Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Periventricular Nodular Heterotopia 2 | | ISO | ARFGEF2 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Periventricular Nodular Heterotopia 2 | | ISO | ARFGEF2 (Homo sapiens) | 7240710 | | OMIM | | |
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ARFGEF2 (Canis lupus familiaris - dog) |
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ARFGEF2 (Homo sapiens - human) |
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Arfgef2 (Mus musculus - house mouse) |
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Arfgef2 (Rattus norvegicus - Norway rat) |
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Arfgef2 (Chinchilla lanigera - long-tailed chinchilla) |
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ARFGEF2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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Arfgef2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ARFGEF2 (Sus scrofa - pig) |
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ARFGEF2 (Chlorocebus sabaeus - green monkey) |
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Arfgef2 (Heterocephalus glaber - naked mole-rat) |
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Variants in ARFGEF2
1108 total Variants |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | reproductive system | respiratory system | adipose tissue | |
High | ||||||||||||
Medium | 2 | 14 | 1 | 12 | 8 | 10 | ||||||
Low | 3 | 5 | 8 | 6 | 6 | 6 | 5 | 6 | 6 | |||
Below cutoff |
RefSeq Transcripts | XM_022409484 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_022409485 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038434051 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038434052 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038434053 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038434054 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038434055 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038457626 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038457627 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038509212 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038509213 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038509214 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038509215 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038509217 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038572543 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038572544 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038572545 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038572546 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038572547 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038636819 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038636820 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038636821 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038636822 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038636823 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_534448 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AAEX04000024 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAAHUQ010000266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAQRD010000063 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAUVH010000376 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
REHQ01000024 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSCAFT00000017822 ⟹ ENSCAFP00000016500 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000078575 ⟹ ENSCAFP00000060181 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000081287 ⟹ ENSCAFP00000053388 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845041799 ⟹ ENSCAFP00845032786 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_022409484 ⟹ XP_022265192 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_022409485 ⟹ XP_022265193 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_038434051 ⟹ XP_038289979 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038434052 ⟹ XP_038289980 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038434053 ⟹ XP_038289981 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038434054 ⟹ XP_038289982 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038434055 ⟹ XP_038289983 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038457626 ⟹ XP_038313554 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038457627 ⟹ XP_038313555 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038509212 ⟹ XP_038365140 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038509213 ⟹ XP_038365141 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038509214 ⟹ XP_038365142 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038509215 ⟹ XP_038365143 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038509217 ⟹ XP_038365145 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038572543 ⟹ XP_038428471 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038572544 ⟹ XP_038428472 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038572545 ⟹ XP_038428473 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038572546 ⟹ XP_038428474 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038572547 ⟹ XP_038428475 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038636819 ⟹ XP_038492747 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038636820 ⟹ XP_038492748 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038636821 ⟹ XP_038492749 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038636822 ⟹ XP_038492750 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038636823 ⟹ XP_038492751 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_534448 ⟹ XP_534448 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | XP_022265192 | (Get FASTA) | NCBI Sequence Viewer |
XP_022265193 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038289979 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038289980 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038289981 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038289982 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038289983 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038313554 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038313555 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038365140 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038365141 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038365142 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038365143 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038365145 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038428471 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038428472 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038428473 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038428474 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038428475 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038492747 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038492748 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038492749 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038492750 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038492751 | (Get FASTA) | NCBI Sequence Viewer | |
XP_534448 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSCAFP00000016500.3 | ||
ENSCAFP00030036686.1 | |||
ENSCAFP00040014860.1 | |||
ENSCAFP00040015105.1 | |||
ENSCAFP00845032786 | |||
ENSCAFP00845032786.1 |
RefSeq Acc Id: | XP_534448 ⟸ XM_534448 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0S2D9 (UniProtKB/TrEMBL), A0A8I3S7J1 (UniProtKB/TrEMBL), A0A8C0P5J5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_022265192 ⟸ XM_022409484 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0P5J5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_022265193 ⟸ XM_022409485 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A8C0P5J5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSCAFP00000060181 ⟸ ENSCAFT00000078575 |
RefSeq Acc Id: | ENSCAFP00000016500 ⟸ ENSCAFT00000017822 |
RefSeq Acc Id: | ENSCAFP00000053388 ⟸ ENSCAFT00000081287 |
RefSeq Acc Id: | XP_038365141 ⟸ XM_038509213 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038365140 ⟸ XM_038509212 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038365143 ⟸ XM_038509215 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038365142 ⟸ XM_038509214 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038365145 ⟸ XM_038509217 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_038492748 ⟸ XM_038636820 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038492747 ⟸ XM_038636819 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038492750 ⟸ XM_038636822 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038492749 ⟸ XM_038636821 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038492751 ⟸ XM_038636823 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_038289980 ⟸ XM_038434052 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0P5J5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038289979 ⟸ XM_038434051 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0S2D9 (UniProtKB/TrEMBL), A0A8I3S7J1 (UniProtKB/TrEMBL), A0A8C0P5J5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038289982 ⟸ XM_038434054 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0P5J5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038289981 ⟸ XM_038434053 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0P5J5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038289983 ⟸ XM_038434055 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A8C0P5J5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038313554 ⟸ XM_038457626 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0P5J5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038313555 ⟸ XM_038457627 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0P5J5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038428472 ⟸ XM_038572544 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0P5J5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038428471 ⟸ XM_038572543 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0P5J5 (UniProtKB/TrEMBL), A0A8C0S2D9 (UniProtKB/TrEMBL), A0A8I3S7J1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038428474 ⟸ XM_038572546 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0P5J5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038428473 ⟸ XM_038572545 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0P5J5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038428475 ⟸ XM_038572547 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A8C0P5J5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSCAFP00845032786 ⟸ ENSCAFT00845041799 |
RGD ID: | 13687649 | ||||||||
Promoter ID: | EPDNEW_C5718 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | ARFGEF2_1 | ||||||||
Description: | ADP ribosylation factor guanine nucleotide exchange factor 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
Ensembl Genes | ENSCAFG00000011181 | Ensembl, UniProtKB/TrEMBL |
ENSCAFG00030022761 | UniProtKB/TrEMBL | |
ENSCAFG00040008910 | UniProtKB/TrEMBL | |
ENSCAFG00845023652 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL | |
Ensembl Transcript | ENSCAFT00000017822.5 | UniProtKB/TrEMBL |
ENSCAFT00030042053.1 | UniProtKB/TrEMBL | |
ENSCAFT00040017142.1 | UniProtKB/TrEMBL | |
ENSCAFT00040017416.1 | UniProtKB/TrEMBL | |
ENSCAFT00845041799 | ENTREZGENE | |
ENSCAFT00845041799.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.1000.11 | UniProtKB/TrEMBL |
1.10.220.20 | UniProtKB/TrEMBL | |
InterPro | ARM-type_fold | UniProtKB/TrEMBL |
DCB_dom | UniProtKB/TrEMBL | |
Sec7/BIG1-like_C | UniProtKB/TrEMBL | |
Sec7_C | UniProtKB/TrEMBL | |
Sec7_C_sf | UniProtKB/TrEMBL | |
Sec7_dom | UniProtKB/TrEMBL | |
Sec7_dom_sf | UniProtKB/TrEMBL | |
Sec7_N | UniProtKB/TrEMBL | |
NCBI Gene | ARFGEF2 | ENTREZGENE |
PANTHER | BREFELDIN A-INHIBITED GUANINE NUCLEOTIDE-EXCHANGE PROTEIN 2 | UniProtKB/TrEMBL |
GUANYL-NUCLEOTIDE EXCHANGE FACTOR | UniProtKB/TrEMBL | |
Pfam | BIG2_C | UniProtKB/TrEMBL |
DCB | UniProtKB/TrEMBL | |
DUF1981 | UniProtKB/TrEMBL | |
Sec7 | UniProtKB/TrEMBL | |
Sec7_N | UniProtKB/TrEMBL | |
PROSITE | SEC7 | UniProtKB/TrEMBL |
SMART | Sec7 | UniProtKB/TrEMBL |
Superfamily-SCOP | SSF48371 | UniProtKB/TrEMBL |
SSF48425 | UniProtKB/TrEMBL | |
UniProt | A0A8C0P5J5 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8C0S2D9 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8C0S2Y6_CANLF | UniProtKB/TrEMBL | |
A0A8I3S7J1 | ENTREZGENE, UniProtKB/TrEMBL | |
VGNC ID | VGNC:38036 | ENTREZGENE |