Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MRGPRD | Human | dilated cardiomyopathy | | ISS | Mrgprd (Mus musculus) | 13592920 | | MouseDO | | |
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Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MRGPRD | Human | dilated cardiomyopathy | | ISS | Mrgprd (Mus musculus) | 13592920 | | MouseDO | | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
2. | Atypical expansion in mice of the sensory neuron-specific Mrg G protein-coupled receptor family. | Zylka MJ, etal., Proc Natl Acad Sci U S A 2003 Aug 19;100(17):10043-8. Epub 2003 Aug 8. |
PMID:11551509 | PMID:12044878 | PMID:15037633 | PMID:18636314 | PMID:21873635 | PMID:22664934 | PMID:22715397 | PMID:23446738 | PMID:33891544 | PMID:34948051 | PMID:38338778 |
MRGPRD (Homo sapiens - human) |
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Mrgprd (Mus musculus - house mouse) |
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Mrgprd (Rattus norvegicus - Norway rat) |
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Mrgprd (Chinchilla lanigera - long-tailed chinchilla) |
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MRGPRD (Pan paniscus - bonobo/pygmy chimpanzee) |
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MRGPRD (Canis lupus familiaris - dog) |
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Mrgprd (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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MRGPRD (Chlorocebus sabaeus - green monkey) |
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Mrgprd (Heterocephalus glaber - naked mole-rat) |
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Variants in MRGPRD
17 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
Single allele | deletion | Intellectual disability [RCV001293382] | Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3 |
pathogenic |
GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1 | copy number loss | See cases [RCV000135609] | Chr11:67217264..69448598 [GRCh38] Chr11:66984735..69263366 [GRCh37] Chr11:66741311..68972547 [NCBI36] Chr11:11q13.2-13.3 |
likely pathogenic |
GRCh38/hg38 11q13.2-13.3(chr11:68205963-69580475)x3 | copy number gain | See cases [RCV000137992] | Chr11:68205963..69580475 [GRCh38] Chr11:67973430..69395243 [GRCh37] Chr11:67730006..69104424 [NCBI36] Chr11:11q13.2-13.3 |
likely benign |
GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1 | copy number loss | See cases [RCV000142138] | Chr11:68031693..71593495 [GRCh38] Chr11:67799160..71304541 [GRCh37] Chr11:67555736..70982189 [NCBI36] Chr11:11q13.2-13.4 |
likely pathogenic |
GRCh37/hg19 11q13.3(chr11:68686958-69803426)x3 | copy number gain | See cases [RCV000448627] | Chr11:68686958..69803426 [GRCh37] Chr11:11q13.3 |
uncertain significance |
GRCh37/hg19 11q13.2-13.4(chr11:67799160-70701268)x1 | copy number loss | See cases [RCV000510219] | Chr11:67799160..70701268 [GRCh37] Chr11:11q13.2-13.4 |
likely pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) | copy number gain | See cases [RCV000511729] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 | copy number gain | See cases [RCV000510881] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_198923.2(MRGPRD):c.799G>T (p.Val267Leu) | single nucleotide variant | not specified [RCV004294602] | Chr11:68980188 [GRCh38] Chr11:68747657 [GRCh37] Chr11:11q13.3 |
uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 | copy number gain | not provided [RCV000737348] | Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 | copy number gain | not provided [RCV000749874] | Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_198923.2(MRGPRD):c.548C>T (p.Ala183Val) | single nucleotide variant | not specified [RCV004304352] | Chr11:68980439 [GRCh38] Chr11:68747908 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NC_000011.9:g.(?_64973914)_(70052579_?)dup | duplication | Aicardi-Goutieres syndrome 3 [RCV003113322]|FADD-related immunodeficiency [RCV003107753] | Chr11:64973914..70052579 [GRCh37] Chr11:11q13.1-13.3 |
uncertain significance |
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 | copy number gain | MISSED ABORTION [RCV002282973] | Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25 |
pathogenic |
NM_198923.2(MRGPRD):c.820G>A (p.Val274Ile) | single nucleotide variant | not specified [RCV004245685] | Chr11:68980167 [GRCh38] Chr11:68747636 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.641G>A (p.Arg214Gln) | single nucleotide variant | not specified [RCV004242665] | Chr11:68980346 [GRCh38] Chr11:68747815 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.940G>A (p.Val314Met) | single nucleotide variant | not specified [RCV004217933] | Chr11:68980047 [GRCh38] Chr11:68747516 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.865A>C (p.Thr289Pro) | single nucleotide variant | not specified [RCV004096585] | Chr11:68980122 [GRCh38] Chr11:68747591 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.251G>T (p.Ser84Ile) | single nucleotide variant | not specified [RCV004161393] | Chr11:68980736 [GRCh38] Chr11:68748205 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.845G>C (p.Arg282Pro) | single nucleotide variant | not specified [RCV004161436] | Chr11:68980142 [GRCh38] Chr11:68747611 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.904G>A (p.Glu302Lys) | single nucleotide variant | not specified [RCV004070862] | Chr11:68980083 [GRCh38] Chr11:68747552 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.520C>T (p.Arg174Trp) | single nucleotide variant | not specified [RCV004078793] | Chr11:68980467 [GRCh38] Chr11:68747936 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.58G>A (p.Gly20Arg) | single nucleotide variant | not specified [RCV004217538] | Chr11:68980929 [GRCh38] Chr11:68748398 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.811G>A (p.Ala271Thr) | single nucleotide variant | not specified [RCV004078978] | Chr11:68980176 [GRCh38] Chr11:68747645 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.953A>G (p.Glu318Gly) | single nucleotide variant | not specified [RCV004089873] | Chr11:68980034 [GRCh38] Chr11:68747503 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.913G>A (p.Glu305Lys) | single nucleotide variant | not specified [RCV004090141] | Chr11:68980074 [GRCh38] Chr11:68747543 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.368G>A (p.Arg123His) | single nucleotide variant | not specified [RCV004277209] | Chr11:68980619 [GRCh38] Chr11:68748088 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.562G>A (p.Gly188Arg) | single nucleotide variant | not specified [RCV004335287] | Chr11:68980425 [GRCh38] Chr11:68747894 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.410G>A (p.Arg137Gln) | single nucleotide variant | not specified [RCV004347591] | Chr11:68980577 [GRCh38] Chr11:68748046 [GRCh37] Chr11:11q13.3 |
likely benign |
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 | copy number gain | not provided [RCV003484842] | Chr11:59923608..76272324 [GRCh37] Chr11:11q12.2-13.5 |
pathogenic |
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3 | copy number gain | not specified [RCV003986944] | Chr11:56895955..69295402 [GRCh37] Chr11:11q12.1-13.3 |
likely pathogenic |
NM_198923.2(MRGPRD):c.685G>C (p.Val229Leu) | single nucleotide variant | not specified [RCV004499202] | Chr11:68980302 [GRCh38] Chr11:68747771 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.467T>G (p.Met156Arg) | single nucleotide variant | not specified [RCV004499171] | Chr11:68980520 [GRCh38] Chr11:68747989 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.217C>T (p.Leu73Phe) | single nucleotide variant | not specified [RCV004499149] | Chr11:68980770 [GRCh38] Chr11:68748239 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.640C>T (p.Arg214Trp) | single nucleotide variant | not specified [RCV004499187] | Chr11:68980347 [GRCh38] Chr11:68747816 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.340A>G (p.Ser114Gly) | single nucleotide variant | not specified [RCV004499160] | Chr11:68980647 [GRCh38] Chr11:68748116 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.676T>G (p.Ser226Ala) | single nucleotide variant | not specified [RCV004499197] | Chr11:68980311 [GRCh38] Chr11:68747780 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.206C>T (p.Ala69Val) | single nucleotide variant | not specified [RCV004499144] | Chr11:68980781 [GRCh38] Chr11:68748250 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.806G>C (p.Ser269Thr) | single nucleotide variant | not specified [RCV004643552] | Chr11:68980181 [GRCh38] Chr11:68747650 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.577G>A (p.Val193Met) | single nucleotide variant | not specified [RCV004643547] | Chr11:68980410 [GRCh38] Chr11:68747879 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.242C>A (p.Ser81Tyr) | single nucleotide variant | not specified [RCV004643553] | Chr11:68980745 [GRCh38] Chr11:68748214 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.245C>T (p.Thr82Met) | single nucleotide variant | not specified [RCV004643554] | Chr11:68980742 [GRCh38] Chr11:68748211 [GRCh37] Chr11:11q13.3 |
likely benign |
NM_198923.2(MRGPRD):c.895G>A (p.Ala299Thr) | single nucleotide variant | not specified [RCV004643548] | Chr11:68980092 [GRCh38] Chr11:68747561 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.362C>T (p.Thr121Ile) | single nucleotide variant | not specified [RCV004643549] | Chr11:68980625 [GRCh38] Chr11:68748094 [GRCh37] Chr11:11q13.3 |
uncertain significance |
NM_198923.2(MRGPRD):c.760C>A (p.Gln254Lys) | single nucleotide variant | not specified [RCV004643551] | Chr11:68980227 [GRCh38] Chr11:68747696 [GRCh37] Chr11:11q13.3 |
likely benign |
NM_198923.2(MRGPRD):c.845G>A (p.Arg282Gln) | single nucleotide variant | not specified [RCV004629120] | Chr11:68980142 [GRCh38] Chr11:68747611 [GRCh37] Chr11:11q13.3 |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
MRGPRD__7297 |
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UniSTS:482596 |
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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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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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renal system
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reproductive system
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respiratory system
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sensory system
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971 | 1935 | 1929 | 1433 | 2150 | 465 | 970 | 164 | 560 | 104 | 1490 | 3537 | 3767 | 5 | 1610 | 448 | 1184 | 640 | 62 |
Ensembl Acc Id: | ENST00000309106 ⟹ ENSP00000310631 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_198923 ⟹ NP_944605 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_944605 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAR05120 | (Get FASTA) | NCBI Sequence Viewer |
BAB89340 | (Get FASTA) | NCBI Sequence Viewer | |
BAC06005 | (Get FASTA) | NCBI Sequence Viewer | |
BAD20638 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000310631 | ||
ENSP00000310631.3 | |||
GenBank Protein | Q8TDS7 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_944605 ⟸ NM_198923 |
- UniProtKB: | Q8NGK7 (UniProtKB/Swiss-Prot), Q8TDS7 (UniProtKB/Swiss-Prot) |
- Sequence: |
Ensembl Acc Id: | ENSP00000310631 ⟸ ENST00000309106 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
MRGD | I-TASSER model | Q8TDS7 | 1-321 | view protein structure |
AF-Q8TDS7-F1-model_v2 | AlphaFold | Q8TDS7 | 1-321 | view protein structure |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:29626 | AgrOrtholog |
COSMIC | MRGPRD | COSMIC |
Ensembl Genes | ENSG00000172938 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000309106 | ENTREZGENE |
ENST00000309106.3 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | Rhodopsin 7-helix transmembrane proteins | UniProtKB/Swiss-Prot |
GTEx | ENSG00000172938 | GTEx |
HGNC ID | HGNC:29626 | ENTREZGENE |
Human Proteome Map | MRGPRD | Human Proteome Map |
InterPro | GPCR_Rhodpsn | UniProtKB/Swiss-Prot |
GPCR_Rhodpsn_7TM | UniProtKB/Swiss-Prot | |
MRGPCRD | UniProtKB/Swiss-Prot | |
MRGPCRFAMILY | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:116512 | UniProtKB/Swiss-Prot |
NCBI Gene | 116512 | ENTREZGENE |
OMIM | 607231 | OMIM |
PANTHER | MAS-RELATED G-PROTEIN COUPLED RECEPTOR MEMBER D | UniProtKB/Swiss-Prot |
PTHR11334 | UniProtKB/Swiss-Prot | |
Pfam | 7tm_1 | UniProtKB/Swiss-Prot |
PharmGKB | PA134978563 | PharmGKB |
PRINTS | GPCRRHODOPSN | UniProtKB/Swiss-Prot |
MRGPCRD | UniProtKB/Swiss-Prot | |
MRGPCRFAMILY | UniProtKB/Swiss-Prot | |
PROSITE | G_PROTEIN_RECEP_F1_2 | UniProtKB/Swiss-Prot |
Superfamily-SCOP | Family A G protein-coupled receptor-like | UniProtKB/Swiss-Prot |
UniProt | MRGRD_HUMAN | UniProtKB/Swiss-Prot |
Q8NGK7 | ENTREZGENE | |
Q8TDS7 | ENTREZGENE | |
UniProt Secondary | Q8NGK7 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2015-12-01 | MRGPRD | MAS related GPR family member D | MAS-related GPR, member D | Symbol and/or name change | 5135510 | APPROVED |