Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Hirschsprung's disease | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25792468 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Hirschsprung's disease | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25792468 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:2390065 | PMID:8012384 | PMID:8241023 | PMID:8889548 | PMID:9566962 | PMID:10191091 | PMID:12477932 | PMID:12665801 | PMID:15146197 | PMID:15489334 | PMID:15815621 | PMID:16189514 |
PMID:16344560 | PMID:18029348 | PMID:18332105 | PMID:19262564 | PMID:19525939 | PMID:19722192 | PMID:21873635 | PMID:21913217 | PMID:23402259 | PMID:24013648 | PMID:24473072 | PMID:24567387 |
PMID:25124890 | PMID:25204797 | PMID:25416956 | PMID:26086332 | PMID:26086560 | PMID:26496610 | PMID:26739564 | PMID:27513662 | PMID:27721187 | PMID:28865960 | PMID:29491746 | PMID:29656893 |
PMID:30021884 | PMID:30907484 | PMID:31152661 | PMID:31182584 | PMID:31322248 | PMID:31334828 | PMID:31340145 | PMID:31352804 | PMID:31391242 | PMID:32296183 | PMID:32694731 | PMID:32780723 |
PMID:33016107 | PMID:33111431 | PMID:33274565 | PMID:33845483 | PMID:33931585 | PMID:34431227 | PMID:34591612 | PMID:34921745 | PMID:35337019 | PMID:35831314 | PMID:35850772 | PMID:35944360 |
PMID:36215168 | PMID:36217030 | PMID:36443833 |
CAVIN2 (Homo sapiens - human) |
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Cavin2 (Mus musculus - house mouse) |
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Cavin2 (Rattus norvegicus - Norway rat) |
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Cavin2 (Chinchilla lanigera - long-tailed chinchilla) |
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CAVIN2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CAVIN2 (Canis lupus familiaris - dog) |
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Cavin2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CAVIN2 (Sus scrofa - pig) |
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CAVIN2 (Chlorocebus sabaeus - green monkey) |
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Cavin2 (Heterocephalus glaber - naked mole-rat) |
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Variants in CAVIN2
9 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 | copy number loss | See cases [RCV000050980] | Chr2:174898848..203941548 [GRCh38] Chr2:175763576..204806271 [GRCh37] Chr2:175471822..204514516 [NCBI36] Chr2:2q31.1-33.2 |
pathogenic |
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 | copy number loss | See cases [RCV000052558] | Chr2:176304445..202039790 [GRCh38] Chr2:177169173..202904513 [GRCh37] Chr2:176877419..202612758 [NCBI36] Chr2:2q31.1-33.1 |
pathogenic |
GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1 | copy number loss | See cases [RCV000052559] | Chr2:177874070..198525492 [GRCh38] Chr2:178738797..199390216 [GRCh37] Chr2:178447043..199098461 [NCBI36] Chr2:2q31.2-33.1 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 | copy number gain | See cases [RCV000052958] | Chr2:188818195..242065208 [GRCh38] Chr2:189682921..243007359 [GRCh37] Chr2:189391166..242656032 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 | copy number gain | See cases [RCV000052959] | Chr2:190310736..241892770 [GRCh38] Chr2:191175462..242834921 [GRCh37] Chr2:190883707..242483594 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1 | copy number loss | See cases [RCV000135876] | Chr2:186027472..201059372 [GRCh38] Chr2:186892199..201924095 [GRCh37] Chr2:186600444..201632340 [NCBI36] Chr2:2q32.1-33.1 |
pathogenic |
GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1 | copy number loss | See cases [RCV000138253] | Chr2:181758701..192015392 [GRCh38] Chr2:182623428..192880118 [GRCh37] Chr2:182331673..192588363 [NCBI36] Chr2:2q31.3-32.3 |
pathogenic |
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 | copy number gain | See cases [RCV000139446] | Chr2:180513793..224302848 [GRCh38] Chr2:181378520..225167565 [GRCh37] Chr2:181086765..224875809 [NCBI36] Chr2:2q31.3-36.2 |
pathogenic |
GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1 | copy number loss | See cases [RCV000141735] | Chr2:177827730..195125329 [GRCh38] Chr2:178692457..195990053 [GRCh37] Chr2:178400703..195698298 [NCBI36] Chr2:2q31.2-32.3 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 | copy number gain | See cases [RCV000142307] | Chr2:189436149..241841232 [GRCh38] Chr2:190300875..242783384 [GRCh37] Chr2:190009120..242432057 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 | copy number loss | See cases [RCV000143484] | Chr2:176086763..193201970 [GRCh38] Chr2:176951491..194066696 [GRCh37] Chr2:176659737..193774941 [NCBI36] Chr2:2q31.1-32.3 |
pathogenic |
GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1 | copy number loss | See cases [RCV000239432] | Chr2:177315153..196375520 [GRCh37] Chr2:2q31.1-32.3 |
pathogenic |
NM_004657.6(CAVIN2):c.542A>G (p.Glu181Gly) | single nucleotide variant | Inborn genetic diseases [RCV003266490] | Chr2:191836659 [GRCh38] Chr2:192701385 [GRCh37] Chr2:2q32.3 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 | copy number gain | not provided [RCV000752802] | Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 | copy number gain | See cases [RCV000448271] | Chr2:169829974..215521436 [GRCh37] Chr2:2q31.1-35 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) | copy number gain | See cases [RCV000512056] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 | copy number gain | See cases [RCV000511212] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1 | copy number loss | not provided [RCV000682165] | Chr2:191750202..202297376 [GRCh37] Chr2:2q32.2-33.1 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 | copy number gain | not provided [RCV000752804] | Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q32.2-33.1(chr2:189490490-200615496)x1 | copy number loss | not provided [RCV000740789] | Chr2:189490490..200615496 [GRCh37] Chr2:2q32.2-33.1 |
pathogenic |
Single allele | duplication | Neurodevelopmental disorder [RCV000787403] | Chr2:188926928..225298653 [GRCh37] Chr2:2q32.1-36.2 |
pathogenic |
NM_004657.6(CAVIN2):c.519A>G (p.Lys173=) | single nucleotide variant | not provided [RCV000963810] | Chr2:191836682 [GRCh38] Chr2:192701408 [GRCh37] Chr2:2q32.3 |
benign |
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 | copy number loss | not provided [RCV000848216] | Chr2:167329586..192756373 [GRCh37] Chr2:2q24.3-32.3 |
pathogenic |
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 | copy number gain | not provided [RCV001005349] | Chr2:163233162..211927188 [GRCh37] Chr2:2q24.2-34 |
pathogenic |
NM_004657.6(CAVIN2):c.1247C>T (p.Pro416Leu) | single nucleotide variant | Inborn genetic diseases [RCV003271204] | Chr2:191835954 [GRCh38] Chr2:192700680 [GRCh37] Chr2:2q32.3 |
uncertain significance |
NM_004657.6(CAVIN2):c.198G>A (p.Val66=) | single nucleotide variant | not provided [RCV000973313] | Chr2:191846728 [GRCh38] Chr2:192711454 [GRCh37] Chr2:2q32.3 |
benign |
NM_004657.6(CAVIN2):c.1191T>C (p.Gly397=) | single nucleotide variant | not provided [RCV000889944] | Chr2:191836010 [GRCh38] Chr2:192700736 [GRCh37] Chr2:2q32.3 |
likely benign |
GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1 | copy number loss | not provided [RCV002472632] | Chr2:187152754..199960525 [GRCh37] Chr2:2q32.1-33.1 |
pathogenic |
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1 | copy number loss | not provided [RCV001005359] | Chr2:174690039..195521582 [GRCh37] Chr2:2q31.1-32.3 |
pathogenic |
GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3 | copy number gain | not provided [RCV001258567] | Chr2:188294864..197731939 [GRCh37] Chr2:2q32.1-33.1 |
likely pathogenic |
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) | copy number loss | Chromosome 2q32-q33 deletion syndrome [RCV002280608] | Chr2:185697659..213002074 [GRCh37] Chr2:2q32.1-34 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) | copy number gain | Mosaic trisomy 2 [RCV002280628] | Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289) | copy number loss | Chromosome 2q32-q33 deletion syndrome [RCV001255693] | Chr2:190345272..200212289 [GRCh37] Chr2:2q32.2-33.1 |
pathogenic |
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 | copy number gain | See cases [RCV001263052] | Chr2:178397959..243007457 [GRCh37] Chr2:2q31.2-37.3 |
pathogenic |
GRCh37/hg19 2q32.3(chr2:192323572-193027152)x1 | copy number loss | not provided [RCV001258569] | Chr2:192323572..193027152 [GRCh37] Chr2:2q32.3 |
uncertain significance |
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) | copy number gain | not specified [RCV002053265] | Chr2:169829974..215521436 [GRCh37] Chr2:2q31.1-35 |
pathogenic |
GRCh37/hg19 2q32.3(chr2:192323573-193027319)x1 | copy number loss | not provided [RCV001827676] | Chr2:192323573..193027319 [GRCh37] Chr2:2q32.3 |
uncertain significance |
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 | copy number loss | not provided [RCV002473800] | Chr2:189909904..209468383 [GRCh37] Chr2:2q32.2-34 |
pathogenic |
NM_004657.6(CAVIN2):c.485A>T (p.Glu162Val) | single nucleotide variant | Inborn genetic diseases [RCV003193866] | Chr2:191836716 [GRCh38] Chr2:192701442 [GRCh37] Chr2:2q32.3 |
uncertain significance |
NM_004657.6(CAVIN2):c.1127T>A (p.Ile376Asn) | single nucleotide variant | Inborn genetic diseases [RCV003309776] | Chr2:191836074 [GRCh38] Chr2:192700800 [GRCh37] Chr2:2q32.3 |
uncertain significance |
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 | copy number gain | See cases [RCV003329558] | Chr2:186698504..223918111 [GRCh37] Chr2:2q32.1-36.1 |
pathogenic |
NM_004657.6(CAVIN2):c.569A>G (p.Asn190Ser) | single nucleotide variant | Inborn genetic diseases [RCV003351617] | Chr2:191836632 [GRCh38] Chr2:192701358 [GRCh37] Chr2:2q32.3 |
uncertain significance |
NM_004657.6(CAVIN2):c.171G>T (p.Thr57=) | single nucleotide variant | not provided [RCV003429472] | Chr2:191846755 [GRCh38] Chr2:192711481 [GRCh37] Chr2:2q32.3 |
likely benign |
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. |
A004T07 |
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WI-12497 |
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RH66552 |
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RH45862 |
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SGC38126 |
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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 | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | 1 | |||||||||||||||||
Medium | 2026 | 2102 | 1235 | 217 | 665 | 157 | 3020 | 1902 | 1860 | 318 | 899 | 1438 | 67 | 1204 | 2099 | 1 | ||
Low | 329 | 868 | 476 | 405 | 745 | 306 | 1096 | 268 | 1808 | 88 | 522 | 80 | 107 | 1 | 689 | 2 | 2 | |
Below cutoff | 43 | 17 | 7 | 2 | 224 | 2 | 139 | 14 | 39 | 9 | 27 | 40 | 1 | 1 |
RefSeq Transcripts | NM_004657 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AC098872 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF085481 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK026943 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK290378 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK311055 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC016475 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM971534 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ025694 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX113402 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471058 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CN286178 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068276 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA561006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
R55388 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Z55164 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000304141 ⟹ ENSP00000305675 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_004657 ⟹ NP_004648 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_004648 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAD17795 | (Get FASTA) | NCBI Sequence Viewer |
AAH16475 | (Get FASTA) | NCBI Sequence Viewer | |
AAY24078 | (Get FASTA) | NCBI Sequence Viewer | |
BAF83067 | (Get FASTA) | NCBI Sequence Viewer | |
EAX10833 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000305675 | ||
ENSP00000305675.4 | |||
GenBank Protein | O95810 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_004648 ⟸ NM_004657 |
- UniProtKB: | O95810 (UniProtKB/Swiss-Prot), A8K2W3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000305675 ⟸ ENST00000304141 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O95810-F1-model_v2 | AlphaFold | O95810 | 1-425 | view protein structure |
RGD ID: | 6862372 | ||||||||
Promoter ID: | EPDNEW_H4351 | ||||||||
Type: | initiation region | ||||||||
Name: | SDPR_1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H4352 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6862374 | ||||||||
Promoter ID: | EPDNEW_H4352 | ||||||||
Type: | initiation region | ||||||||
Name: | SDPR_2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H4351 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6798129 | ||||||||
Promoter ID: | HG_KWN:36438 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562 | ||||||||
Transcripts: | OTTHUMT00000334791 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:10690 | AgrOrtholog |
COSMIC | CAVIN2 | COSMIC |
Ensembl Genes | ENSG00000168497 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000304141 | ENTREZGENE |
ENST00000304141.5 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000168497 | GTEx |
HGNC ID | HGNC:10690 | ENTREZGENE |
Human Proteome Map | CAVIN2 | Human Proteome Map |
InterPro | Cavin_fam | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | hsa:8436 | UniProtKB/Swiss-Prot |
NCBI Gene | 8436 | ENTREZGENE |
OMIM | 606728 | OMIM |
PANTHER | CAVEOLAE-ASSOCIATED PROTEIN 2 | UniProtKB/TrEMBL |
CAVIN | UniProtKB/TrEMBL, UniProtKB/Swiss-Prot | |
PTHR15240:SF1 | UniProtKB/Swiss-Prot | |
Pfam | PTRF_SDPR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA35615 | PharmGKB |
UniProt | A8K2W3 | ENTREZGENE, UniProtKB/TrEMBL |
CAVN2_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2017-03-28 | CAVIN2 | caveolae associated protein 2 | SDPR | serum deprivation response | Symbol and/or name change | 5135510 | APPROVED |
2011-07-27 | SDPR | serum deprivation response | SDPR | serum deprivation response (phosphatidylserine binding protein) | Symbol and/or name change | 5135510 | APPROVED |