Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:35663546 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:35663546 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:9653656 | PMID:12477932 | PMID:15489334 | PMID:20080636 | PMID:21873635 | PMID:22542696 | PMID:24120851 | PMID:25030943 | PMID:25320283 | PMID:26339162 | PMID:29083412 | PMID:34339312 |
PMID:34699386 |
GPR32 (Homo sapiens - human) |
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Gpr32 (Rattus norvegicus - Norway rat) |
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Gpr32 (Chinchilla lanigera - long-tailed chinchilla) |
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LOC100980025 (Pan paniscus - bonobo/pygmy chimpanzee) |
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GPR32 (Sus scrofa - pig) |
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GPR32 (Chlorocebus sabaeus - green monkey) |
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Variants in GPR32
23 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 | copy number gain | See cases [RCV000050883] | Chr19:50191219..58535818 [GRCh38] Chr19:50694476..59047185 [GRCh37] Chr19:55386288..63738997 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 | copy number gain | See cases [RCV000052925] | Chr19:49907832..58557889 [GRCh38] Chr19:50411089..59069256 [GRCh37] Chr19:55102901..63761068 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 | copy number gain | See cases [RCV000052914] | Chr19:47908540..58539965 [GRCh38] Chr19:48411797..59051332 [GRCh37] Chr19:53103609..63743144 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 | copy number gain | See cases [RCV000052915] | Chr19:47929575..58572206 [GRCh38] Chr19:48432832..59083573 [GRCh37] Chr19:53124644..63775385 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
NM_001506.2(GPR32):c.92C>T (p.Ser31Phe) | single nucleotide variant | Malignant melanoma [RCV000072270] | Chr19:50770692 [GRCh38] Chr19:51273949 [GRCh37] Chr19:55965761 [NCBI36] Chr19:19q13.33 |
not provided |
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 | copy number gain | See cases [RCV000135843] | Chr19:50152520..58581203 [GRCh38] Chr19:50655777..59092570 [GRCh37] Chr19:55347589..63784382 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3 | copy number gain | See cases [RCV000445925] | Chr19:50489390..59095359 [GRCh37] Chr19:19q13.33-13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 | copy number gain | See cases [RCV000511289] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic|uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) | copy number gain | See cases [RCV000512296] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
NM_001506.2(GPR32):c.386A>T (p.Asn129Ile) | single nucleotide variant | Inborn genetic diseases [RCV003251734] | Chr19:50770986 [GRCh38] Chr19:51274243 [GRCh37] Chr19:19q13.33 |
likely benign |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 | copy number gain | not provided [RCV000752444] | Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 | copy number gain | not provided [RCV000752439] | Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19q13.33(chr19:51262374-51275044)x1 | copy number loss | not provided [RCV000740210] | Chr19:51262374..51275044 [GRCh37] Chr19:19q13.33 |
benign |
GRCh37/hg19 19q13.33(chr19:51263296-51275044)x1 | copy number loss | not provided [RCV000740211] | Chr19:51263296..51275044 [GRCh37] Chr19:19q13.33 |
benign |
GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3 | copy number gain | not provided [RCV000740208] | Chr19:50740074..59097160 [GRCh37] Chr19:19q13.33-13.43 |
pathogenic |
NM_001506.2(GPR32):c.5A>T (p.Asn2Ile) | single nucleotide variant | Inborn genetic diseases [RCV003267850] | Chr19:50770605 [GRCh38] Chr19:51273862 [GRCh37] Chr19:19q13.33 |
uncertain significance |
GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3 | copy number gain | not provided [RCV000847250] | Chr19:49600909..51366070 [GRCh37] Chr19:19q13.33 |
uncertain significance |
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 | copy number gain | not provided [RCV001007050] | Chr19:44738088..53621561 [GRCh37] Chr19:19q13.31-13.42 |
pathogenic |
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) | copy number gain | not provided [RCV001249294] | Chr19:47939842..54626871 [GRCh37] Chr19:19q13.32-13.42 |
not provided |
NM_001506.2(GPR32):c.503T>C (p.Leu168Pro) | single nucleotide variant | Inborn genetic diseases [RCV003293020] | Chr19:50771103 [GRCh38] Chr19:51274360 [GRCh37] Chr19:19q13.33 |
uncertain significance |
GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3 | copy number gain | not provided [RCV001007055] | Chr19:50469730..51916485 [GRCh37] Chr19:19q13.33-13.41 |
uncertain significance |
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 | copy number gain | not provided [RCV001259944] | Chr19:48463931..57095254 [GRCh37] Chr19:19q13.33-13.43 |
pathogenic |
GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438) | copy number gain | not specified [RCV002052689] | Chr19:49911081..53127438 [GRCh37] Chr19:19q13.33-13.41 |
likely pathogenic |
NC_000019.9:g.(?_50887648)_(51364623_?)dup | duplication | Colorectal cancer, susceptibility to, 10 [RCV001916525] | Chr19:50887648..51364623 [GRCh37] Chr19:19q13.33 |
uncertain significance |
GRCh37/hg19 19q13.33(chr19:50883114-51304591)x3 | copy number gain | not provided [RCV002474601] | Chr19:50883114..51304591 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_001506.2(GPR32):c.923A>G (p.Asn308Ser) | single nucleotide variant | Inborn genetic diseases [RCV002840332] | Chr19:50771523 [GRCh38] Chr19:51274780 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_001506.2(GPR32):c.128G>C (p.Arg43Pro) | single nucleotide variant | Inborn genetic diseases [RCV002991325] | Chr19:50770728 [GRCh38] Chr19:51273985 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_001506.2(GPR32):c.926G>A (p.Ser309Asn) | single nucleotide variant | Inborn genetic diseases [RCV002689013] | Chr19:50771526 [GRCh38] Chr19:51274783 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_001506.2(GPR32):c.847C>G (p.Arg283Gly) | single nucleotide variant | Inborn genetic diseases [RCV002794445] | Chr19:50771447 [GRCh38] Chr19:51274704 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_001506.2(GPR32):c.49G>A (p.Gly17Arg) | single nucleotide variant | Inborn genetic diseases [RCV002777749] | Chr19:50770649 [GRCh38] Chr19:51273906 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_001506.2(GPR32):c.653T>C (p.Ile218Thr) | single nucleotide variant | Inborn genetic diseases [RCV002865114] | Chr19:50771253 [GRCh38] Chr19:51274510 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_001506.2(GPR32):c.928A>T (p.Ser310Cys) | single nucleotide variant | Inborn genetic diseases [RCV002998228] | Chr19:50771528 [GRCh38] Chr19:51274785 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_001506.2(GPR32):c.988T>C (p.Ser330Pro) | single nucleotide variant | Inborn genetic diseases [RCV002955387] | Chr19:50771588 [GRCh38] Chr19:51274845 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_001506.2(GPR32):c.194T>C (p.Leu65Pro) | single nucleotide variant | Inborn genetic diseases [RCV002986569] | Chr19:50770794 [GRCh38] Chr19:51274051 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_001506.2(GPR32):c.199A>G (p.Met67Val) | single nucleotide variant | Inborn genetic diseases [RCV002986570] | Chr19:50770799 [GRCh38] Chr19:51274056 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_001506.2(GPR32):c.493G>A (p.Val165Met) | single nucleotide variant | Inborn genetic diseases [RCV002832009] | Chr19:50771093 [GRCh38] Chr19:51274350 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_001506.2(GPR32):c.403A>G (p.Ile135Val) | single nucleotide variant | Inborn genetic diseases [RCV003209401] | Chr19:50771003 [GRCh38] Chr19:51274260 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_001506.2(GPR32):c.89A>G (p.Asn30Ser) | single nucleotide variant | Inborn genetic diseases [RCV003220576] | Chr19:50770689 [GRCh38] Chr19:51273946 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_001506.2(GPR32):c.520T>G (p.Ser174Ala) | single nucleotide variant | Inborn genetic diseases [RCV003181088] | Chr19:50771120 [GRCh38] Chr19:51274377 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_001506.2(GPR32):c.446C>T (p.Ala149Val) | single nucleotide variant | Inborn genetic diseases [RCV003200893] | Chr19:50771046 [GRCh38] Chr19:51274303 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_001506.2(GPR32):c.202A>G (p.Thr68Ala) | single nucleotide variant | Inborn genetic diseases [RCV003193670] | Chr19:50770802 [GRCh38] Chr19:51274059 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_001506.2(GPR32):c.68G>C (p.Arg23Pro) | single nucleotide variant | Inborn genetic diseases [RCV003203087] | Chr19:50770668 [GRCh38] Chr19:51273925 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_001506.2(GPR32):c.529C>G (p.Leu177Val) | single nucleotide variant | Inborn genetic diseases [RCV003353280] | Chr19:50771129 [GRCh38] Chr19:51274386 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_001506.2(GPR32):c.538C>T (p.Arg180Trp) | single nucleotide variant | Inborn genetic diseases [RCV003351444] | Chr19:50771138 [GRCh38] Chr19:51274395 [GRCh37] Chr19:19q13.33 |
uncertain significance |
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 | copy number gain | not provided [RCV003485200] | Chr19:49625130..57647352 [GRCh37] Chr19:19q13.33-13.43 |
likely pathogenic |
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3 | copy number gain | not specified [RCV003986127] | Chr19:48905537..51614930 [GRCh37] Chr19:19q13.33-13.41 |
likely pathogenic |
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. |
GPR32_2034 |
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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 | adipose tissue | appendage | entire extraembryonic component | |
High | ||||||||||||||||
Medium | 2 | 2 | 1 | 2 | ||||||||||||
Low | 3 | 12 | 2 | 3 | 1 | 23 | 2 | 2 | 1 | |||||||
Below cutoff | 229 | 258 | 138 | 40 | 213 | 23 | 594 | 203 | 708 | 30 | 545 | 186 | 18 | 87 | 346 | 1 |
RefSeq Transcripts | NM_001506 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AC010325 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF045764 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC067453 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC067454 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC095544 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471135 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JQ308171 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000270590 ⟹ ENSP00000270590 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001506 ⟹ NP_001497 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001497 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAC39801 | (Get FASTA) | NCBI Sequence Viewer |
AAH67453 | (Get FASTA) | NCBI Sequence Viewer | |
AAH67454 | (Get FASTA) | NCBI Sequence Viewer | |
AAH95544 | (Get FASTA) | NCBI Sequence Viewer | |
AFF59481 | (Get FASTA) | NCBI Sequence Viewer | |
EAW71898 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000270590 | ||
ENSP00000270590.3 | |||
GenBank Protein | O75388 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001497 ⟸ NM_001506 |
- UniProtKB: | Q502U7 (UniProtKB/Swiss-Prot), Q6NWS5 (UniProtKB/Swiss-Prot), O75388 (UniProtKB/Swiss-Prot), H9NIL6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000270590 ⟸ ENST00000270590 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O75388-F1-model_v2 | AlphaFold | O75388 | 1-356 | view protein structure |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:4487 | AgrOrtholog |
COSMIC | GPR32 | COSMIC |
Ensembl Genes | ENSG00000142511 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000270590 | ENTREZGENE |
ENST00000270590.4 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | Rhodopsin 7-helix transmembrane proteins | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000142511 | GTEx |
HGNC ID | HGNC:4487 | ENTREZGENE |
Human Proteome Map | GPR32 | Human Proteome Map |
InterPro | Formyl_rcpt-rel | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GPCR_Rhodpsn | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GPCR_Rhodpsn_7TM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:2854 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 2854 | ENTREZGENE |
OMIM | 603195 | OMIM |
PANTHER | G-PROTEIN COUPLED RECEPTOR 32-RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR24225 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | 7tm_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA28875 | PharmGKB |
PRINTS | FMETLEUPHER | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GPCRRHODOPSN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROSITE | G_PROTEIN_RECEP_F1_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
G_PROTEIN_RECEP_F1_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | Family A G protein-coupled receptor-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | GPR32_HUMAN | UniProtKB/Swiss-Prot |
H9NIL6 | ENTREZGENE, UniProtKB/TrEMBL | |
O75388 | ENTREZGENE | |
Q502U7 | ENTREZGENE | |
Q6NWS5 | ENTREZGENE | |
UniProt Secondary | Q502U7 | UniProtKB/Swiss-Prot |
Q6NWS5 | UniProtKB/Swiss-Prot |