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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | BPIFA2 | Human | substance-related disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:20098672 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | BPIFA2 | Human | substance-related disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:20098672 | |
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# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:11780052 | PMID:11971875 | PMID:12477932 | PMID:12975309 | PMID:14739326 | PMID:15489334 | PMID:16740002 | PMID:17207965 | PMID:18221458 | PMID:19199708 | PMID:19499239 | PMID:21787333 |
PMID:21787342 | PMID:21833535 | PMID:21873635 | PMID:24556642 | PMID:24581853 | PMID:25416956 | PMID:26186194 | PMID:26544073 | PMID:28514442 | PMID:28775000 | PMID:32296183 | PMID:33961781 |
BPIFA2 (Homo sapiens - human) |
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Bpifa2 (Mus musculus - house mouse) |
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Bpifa2 (Rattus norvegicus - Norway rat) |
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BPIFA2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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BPIFA2 (Canis lupus familiaris - dog) |
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BPIFA2 (Sus scrofa - pig) |
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BPIFA2 (Chlorocebus sabaeus - green monkey) |
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Bpifa2 (Heterocephalus glaber - naked mole-rat) |
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Variants in BPIFA2
22 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 | copy number gain | See cases [RCV000052999] | Chr20:9811433..39316956 [GRCh38] Chr20:9792081..37945599 [GRCh37] Chr20:9740081..37379013 [NCBI36] Chr20:20p12.2-q12 |
pathogenic |
NM_080574.2(BPIFA2):c.109G>A (p.Glu37Lys) | single nucleotide variant | Malignant melanoma [RCV000072582] | Chr20:33169254 [GRCh38] Chr20:31757060 [GRCh37] Chr20:31220721 [NCBI36] Chr20:20q11.21 |
not provided |
NC_000020.11:g.33163369C>T | single nucleotide variant | Lung cancer [RCV000101535] | Chr20:33163369 [GRCh38] Chr20:31751175 [GRCh37] Chr20:20q11.21 |
uncertain significance |
GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3 | copy number gain | See cases [RCV000135358] | Chr20:31254983..33473080 [GRCh38] Chr20:29842786..32060886 [GRCh37] Chr20:29306447..31524547 [NCBI36] Chr20:20q11.21 |
pathogenic |
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 | copy number gain | See cases [RCV000135859] | Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33 |
pathogenic |
GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3 | copy number gain | See cases [RCV000141833] | Chr20:32062768..35906606 [GRCh38] Chr20:30650571..34494528 [GRCh37] Chr20:30114232..33957942 [NCBI36] Chr20:20q11.21-11.23 |
pathogenic |
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)x3 | copy number gain | See cases [RCV000448977] | Chr20:24162775..31820857 [GRCh37] Chr20:20p11.21-q11.21 |
likely pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 | copy number gain | See cases [RCV000510832] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
NM_080574.4(BPIFA2):c.740C>A (p.Thr247Asn) | single nucleotide variant | not specified [RCV004319193] | Chr20:33180550 [GRCh38] Chr20:31768356 [GRCh37] Chr20:20q11.21 |
uncertain significance |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) | copy number gain | See cases [RCV000512450] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 | copy number gain | not provided [RCV000741059] | Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20q11.21(chr20:31760708-31831108)x1 | copy number loss | not provided [RCV000741171] | Chr20:31760708..31831108 [GRCh37] Chr20:20q11.21 |
benign |
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 | copy number gain | not provided [RCV000741057] | Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 | copy number gain | not provided [RCV000741058] | Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
NM_080574.4(BPIFA2):c.303G>T (p.Gly101=) | single nucleotide variant | not provided [RCV000961090] | Chr20:33174079 [GRCh38] Chr20:31761885 [GRCh37] Chr20:20q11.21 |
benign |
GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3 | copy number gain | not provided [RCV000849735] | Chr20:29833608..35087952 [GRCh37] Chr20:20q11.21-11.23 |
pathogenic |
NM_080574.4(BPIFA2):c.646-9del | deletion | not provided [RCV000958028] | Chr20:33179594 [GRCh38] Chr20:31767400 [GRCh37] Chr20:20q11.21 |
benign |
GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3 | copy number gain | not provided [RCV001829151] | Chr20:18665879..33903216 [GRCh37] Chr20:20p11.23-q11.22 |
likely pathogenic |
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857) | copy number gain | not specified [RCV002052707] | Chr20:24162775..31820857 [GRCh37] Chr20:20p11.21-q11.21 |
likely pathogenic |
GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550) | copy number gain | not specified [RCV002052709] | Chr20:25442597..33761550 [GRCh37] Chr20:20p11.21-q11.22 |
pathogenic |
NC_000020.10:g.(?_31189994)_(34287210_?)del | deletion | not provided [RCV001956104] | Chr20:31189994..34287210 [GRCh37] Chr20:20q11.21-11.22 |
pathogenic |
GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3 | copy number gain | not provided [RCV002474532] | Chr20:29833535..34815537 [GRCh37] Chr20:20q11.21-11.23 |
likely pathogenic |
GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3 | copy number gain | not provided [RCV002475651] | Chr20:29652122..35603726 [GRCh37] Chr20:20q11.21-11.23 |
likely pathogenic |
NM_080574.4(BPIFA2):c.300T>G (p.Phe100Leu) | single nucleotide variant | not specified [RCV004193112] | Chr20:33173074 [GRCh38] Chr20:31760880 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_080574.4(BPIFA2):c.413C>T (p.Pro138Leu) | single nucleotide variant | not specified [RCV004096499] | Chr20:33175409 [GRCh38] Chr20:31763215 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_080574.4(BPIFA2):c.473T>C (p.Ile158Thr) | single nucleotide variant | not specified [RCV004122375] | Chr20:33175469 [GRCh38] Chr20:31763275 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_080574.4(BPIFA2):c.646A>G (p.Ile216Val) | single nucleotide variant | not specified [RCV004116887] | Chr20:33179604 [GRCh38] Chr20:31767410 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_080574.4(BPIFA2):c.217C>G (p.Leu73Val) | single nucleotide variant | not specified [RCV004231663] | Chr20:33172991 [GRCh38] Chr20:31760797 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_080574.4(BPIFA2):c.662G>A (p.Arg221His) | single nucleotide variant | not specified [RCV004074536] | Chr20:33179620 [GRCh38] Chr20:31767426 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_080574.4(BPIFA2):c.154A>G (p.Lys52Glu) | single nucleotide variant | not specified [RCV004268537] | Chr20:33169299 [GRCh38] Chr20:31757105 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_080574.4(BPIFA2):c.158G>A (p.Gly53Asp) | single nucleotide variant | not specified [RCV004338343] | Chr20:33172932 [GRCh38] Chr20:31760738 [GRCh37] Chr20:20q11.21 |
uncertain significance |
GRCh37/hg19 20q11.21(chr20:29917837-31886619)x3 | copy number gain | not specified [RCV003986134] | Chr20:29917837..31886619 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_080574.4(BPIFA2):c.608C>T (p.Thr203Met) | single nucleotide variant | not specified [RCV004434145] | Chr20:33178191 [GRCh38] Chr20:31765997 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_080574.4(BPIFA2):c.715C>T (p.Pro239Ser) | single nucleotide variant | not specified [RCV004434146] | Chr20:33180525 [GRCh38] Chr20:31768331 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_080574.4(BPIFA2):c.197A>G (p.Gln66Arg) | single nucleotide variant | not specified [RCV004434144] | Chr20:33172971 [GRCh38] Chr20:31760777 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NC_000020.10:g.(?_31368130)_(34287210_?)del | deletion | Glutathione synthetase deficiency with 5-oxoprolinuria [RCV004579432] | Chr20:31368130..34287210 [GRCh37] Chr20:20q11.21-11.22 |
pathogenic |
NC_000020.10:g.(?_31571600)_(33001705_?)del | deletion | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV004579470] | Chr20:31571600..33001705 [GRCh37] Chr20:20q11.21-11.22 |
pathogenic |
NM_080574.4(BPIFA2):c.392C>T (p.Ala131Val) | single nucleotide variant | not specified [RCV004602146] | Chr20:33174168 [GRCh38] Chr20:31761974 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_080574.4(BPIFA2):c.463G>C (p.Ala155Pro) | single nucleotide variant | not specified [RCV004897914] | Chr20:33175459 [GRCh38] Chr20:31763265 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_080574.4(BPIFA2):c.706G>T (p.Val236Phe) | single nucleotide variant | not specified [RCV004897915] | Chr20:33179664 [GRCh38] Chr20:31767470 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_080574.4(BPIFA2):c.691G>A (p.Val231Ile) | single nucleotide variant | not specified [RCV004892283] | Chr20:33179649 [GRCh38] Chr20:31767455 [GRCh37] Chr20:20q11.21 |
uncertain significance |
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 |
L29953 |
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G35510 |
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D1S1423 |
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D1S1425 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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pharyngeal arch
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renal system
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reproductive system
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respiratory system
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sensory system
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167 | 985 | 363 | 207 | 1150 | 1072 | 1473 | 1 | 204 | 277 | 112 | 185 | 1288 | 1227 | 5 | 1062 | 1 | 403 | 846 | 1241 | 92 |
RefSeq Transcripts | NM_001319164 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_080574 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322993 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322994 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322995 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF432917 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK130543 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK130550 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK291854 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL121901 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AX061621 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY359055 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC065726 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471077 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068258 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000253362 ⟹ ENSP00000253362 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000354932 ⟹ ENSP00000347012 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001319164 ⟹ NP_001306093 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_080574 ⟹ NP_542141 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_054322993 ⟹ XP_054178968 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054322994 ⟹ XP_054178969 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054322995 ⟹ XP_054178970 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001306093 | (Get FASTA) | NCBI Sequence Viewer |
NP_542141 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178968 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178969 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178970 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH65726 | (Get FASTA) | NCBI Sequence Viewer |
AAL28113 | (Get FASTA) | NCBI Sequence Viewer | |
AAQ89414 | (Get FASTA) | NCBI Sequence Viewer | |
BAC85378 | (Get FASTA) | NCBI Sequence Viewer | |
BAF84543 | (Get FASTA) | NCBI Sequence Viewer | |
CAC24982 | (Get FASTA) | NCBI Sequence Viewer | |
EAW76335 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000253362 | ||
ENSP00000253362.2 | |||
ENSP00000347012 | |||
ENSP00000347012.5 | |||
GenBank Protein | Q96DR5 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_542141 ⟸ NM_080574 |
- Peptide Label: | precursor |
- UniProtKB: | Q9BQQ0 (UniProtKB/Swiss-Prot), Q96DR5 (UniProtKB/Swiss-Prot), A8K739 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001306093 ⟸ NM_001319164 |
- Peptide Label: | precursor |
- UniProtKB: | Q9BQQ0 (UniProtKB/Swiss-Prot), Q96DR5 (UniProtKB/Swiss-Prot), A8K739 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000253362 ⟸ ENST00000253362 |
Ensembl Acc Id: | ENSP00000347012 ⟸ ENST00000354932 |
RefSeq Acc Id: | XP_054178969 ⟸ XM_054322994 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q96DR5 (UniProtKB/Swiss-Prot), Q9BQQ0 (UniProtKB/Swiss-Prot), A8K739 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178968 ⟸ XM_054322993 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q96DR5 (UniProtKB/Swiss-Prot), Q9BQQ0 (UniProtKB/Swiss-Prot), A8K739 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178970 ⟸ XM_054322995 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q96DR5 (UniProtKB/Swiss-Prot), Q9BQQ0 (UniProtKB/Swiss-Prot), A8K739 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q96DR5-F1-model_v2 | AlphaFold | Q96DR5 | 1-249 | view protein structure |
RGD ID: | 13206677 | ||||||||
Promoter ID: | EPDNEW_H26919 | ||||||||
Type: | single initiation site | ||||||||
Name: | BPIFA2_2 | ||||||||
Description: | BPI fold containing family A member 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H26920 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 13206679 | ||||||||
Promoter ID: | EPDNEW_H26920 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | BPIFA2_1 | ||||||||
Description: | BPI fold containing family A member 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H26919 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:16203 | AgrOrtholog |
COSMIC | BPIFA2 | COSMIC |
Ensembl Genes | ENSG00000131050 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000253362 | ENTREZGENE |
ENST00000253362.6 | UniProtKB/Swiss-Prot | |
ENST00000354932 | ENTREZGENE | |
ENST00000354932.6 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | Bactericidal permeability-increasing protein, domain 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000131050 | GTEx |
HGNC ID | HGNC:16203 | ENTREZGENE |
Human Proteome Map | BPIFA2 | Human Proteome Map |
InterPro | Bactericidal_perm-incr_a/b_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
BPI_fold-antibacterial | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Lipid-bd_serum_glycop_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:140683 | UniProtKB/Swiss-Prot |
NCBI Gene | 140683 | ENTREZGENE |
PANTHER | BPI FOLD-CONTAINING FAMILY A MEMBER 2 | UniProtKB/Swiss-Prot |
BPI FOLD-CONTAINING FAMILY A MEMBER 2 | UniProtKB/Swiss-Prot | |
BPI FOLD-CONTAINING FAMILY A MEMBER 2 | UniProtKB/TrEMBL | |
BPI FOLD-CONTAINING FAMILY A MEMBER 2 | UniProtKB/TrEMBL | |
Pfam | LBP_BPI_CETP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA25781 | PharmGKB |
Superfamily-SCOP | SSF55394 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A8K739 | ENTREZGENE, UniProtKB/TrEMBL |
BPIA2_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q9BQQ0 | ENTREZGENE | |
UniProt Secondary | Q9BQQ0 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-12-15 | BPIFA2 | BPI fold containing family A member 2 | BPI fold containing family A, member 2 | Symbol and/or name change | 5135510 | APPROVED | |
2011-08-02 | BPIFA2 | BPI fold containing family A, member 2 | C20orf70 | chromosome 20 open reading frame 70 | Symbol and/or name change | 5135510 | APPROVED |