Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | TRIM49C | Human | Stomach Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:36914835 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | TRIM49C | Human | Stomach Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:36914835 | |
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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:12477932 | PMID:15489334 | PMID:15815621 | PMID:16554811 | PMID:21873635 | PMID:22144910 | PMID:32296183 | PMID:34373451 |
TRIM49C (Homo sapiens - human) |
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LOC608075 (Canis lupus familiaris - dog) |
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Variants in TRIM49C
33 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 11q14.1-22.3(chr11:78232836-106779420)x1 | copy number loss | See cases [RCV000052710] | Chr11:78232836..106779420 [GRCh38] Chr11:77943882..106650146 [GRCh37] Chr11:77621530..106155356 [NCBI36] Chr11:11q14.1-22.3 |
pathogenic |
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1 | copy number loss | See cases [RCV000052711] | Chr11:85242847..102920097 [GRCh38] Chr11:84953891..102738968 [GRCh37] Chr11:84631539..102296037 [NCBI36] Chr11:11q14.1-22.2 |
pathogenic |
NM_001195234.1(TRIM49C):c.910G>A (p.Glu304Lys) | single nucleotide variant | Malignant melanoma [RCV000069738] | Chr11:90041101 [GRCh38] Chr11:89774269 [GRCh37] Chr11:89413917 [NCBI36] Chr11:11q14.3 |
not provided |
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 | copy number loss | See cases [RCV000133838] | Chr11:75941754..98357960 [GRCh38] Chr11:75652798..98228688 [GRCh37] Chr11:75330446..97733898 [NCBI36] Chr11:11q13.5-22.1 |
pathogenic |
GRCh38/hg38 11q14.3(chr11:89650515-90084741)x1 | copy number loss | See cases [RCV000137458] | Chr11:89650515..90084741 [GRCh38] Chr11:89383683..89817909 [GRCh37] Chr11:89023331..89457557 [NCBI36] Chr11:11q14.3 |
pathogenic|likely benign |
GRCh38/hg38 11q14.3(chr11:89425778-90689442)x1 | copy number loss | See cases [RCV000141934] | Chr11:89425778..90689442 [GRCh38] Chr11:89158946..90422610 [GRCh37] Chr11:88798594..90062258 [NCBI36] Chr11:11q14.3 |
uncertain significance |
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)x1 | copy number loss | See cases [RCV000446395] | Chr11:80318996..96116221 [GRCh37] Chr11:11q14.1-21 |
pathogenic |
GRCh37/hg19 11q14.3(chr11:89540275-89956475)x3 | copy number gain | See cases [RCV000448705] | Chr11:89540275..89956475 [GRCh37] Chr11:11q14.3 |
benign |
GRCh37/hg19 11q14.3(chr11:89514122-92745981)x1 | copy number loss | See cases [RCV000448827] | Chr11:89514122..92745981 [GRCh37] Chr11:11q14.3 |
uncertain significance |
GRCh37/hg19 11q14.2-14.3(chr11:87099219-91921385) | copy number loss | Abnormal esophagus morphology [RCV000416734] | Chr11:87099219..91921385 [GRCh37] Chr11:11q14.2-14.3 |
likely benign |
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)x1 | copy number loss | See cases [RCV000448436] | Chr11:84924674..93574799 [GRCh37] Chr11:11q14.1-21 |
likely pathogenic |
GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1 | copy number loss | See cases [RCV000510457] | Chr11:88152458..109414650 [GRCh37] Chr11:11q14.2-22.3 |
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_001195234.1(TRIM49C):c.328C>A (p.Leu110Met) | single nucleotide variant | not specified [RCV004321960] | Chr11:90035539 [GRCh38] Chr11:89768707 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NM_001195234.1(TRIM49C):c.887C>A (p.Ala296Asp) | single nucleotide variant | not specified [RCV004326648] | Chr11:90041078 [GRCh38] Chr11:89774246 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NM_001195234.1(TRIM49C):c.1223G>A (p.Arg408Gln) | single nucleotide variant | not specified [RCV004298556] | Chr11:90041414 [GRCh38] Chr11:89774582 [GRCh37] Chr11:11q14.3 |
uncertain significance |
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 | copy number gain | not provided [RCV000683374] | Chr11:71588805..116680918 [GRCh37] Chr11:11q13.4-23.3 |
pathogenic |
GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187) | copy number loss | Intellectual disability [RCV000721939] | Chr11:81771852..90851187 [GRCh37] Chr11:11q14.1-14.3 |
pathogenic |
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 |
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 | copy number loss | not provided [RCV000737595] | Chr11:80053454..113316236 [GRCh37] Chr11:11q14.1-23.2 |
pathogenic |
GRCh37/hg19 11q14.1-21(chr11:83179196-94716998)x3 | copy number gain | not provided [RCV000750120] | Chr11:83179196..94716998 [GRCh37] Chr11:11q14.1-21 |
pathogenic |
Single allele | deletion | Neurodevelopmental disorder [RCV000787372] | Chr11:89482692..90933956 [GRCh37] Chr11:11q14.3 |
uncertain significance |
GRCh37/hg19 11q14.3(chr11:89659554-90697895)x3 | copy number gain | not provided [RCV001006433] | Chr11:89659554..90697895 [GRCh37] Chr11:11q14.3 |
uncertain significance |
GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3 | copy number gain | not provided [RCV001006426] | Chr11:84830143..92029933 [GRCh37] Chr11:11q14.1-14.3 |
pathogenic |
NM_001195234.1(TRIM49C):c.236A>G (p.Lys79Arg) | single nucleotide variant | not specified [RCV004684731] | Chr11:90035447 [GRCh38] Chr11:89768615 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NM_001195234.1(TRIM49C):c.1127G>T (p.Gly376Val) | single nucleotide variant | not specified [RCV004684737] | Chr11:90041318 [GRCh38] Chr11:89774486 [GRCh37] Chr11:11q14.3 |
uncertain significance |
GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445) | copy number loss | not specified [RCV002052940] | Chr11:77855209..98002445 [GRCh37] Chr11:11q14.1-22.1 |
pathogenic |
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221) | copy number loss | not specified [RCV002052941] | Chr11:80318996..96116221 [GRCh37] Chr11:11q14.1-21 |
pathogenic |
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 | copy number loss | not provided [RCV001832892] | Chr11:85422071..118022671 [GRCh37] Chr11:11q14.1-23.3 |
uncertain significance |
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799) | copy number loss | not specified [RCV002052942] | Chr11:84924674..93574799 [GRCh37] Chr11:11q14.1-21 |
likely pathogenic |
GRCh37/hg19 11q14.3(chr11:89514122-92745981) | copy number loss | not specified [RCV002052946] | Chr11:89514122..92745981 [GRCh37] Chr11:11q14.3 |
uncertain significance |
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 | copy number gain | MISSED ABORTION [RCV002282973] | Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25 |
pathogenic |
GRCh37/hg19 11q14.3(chr11:89474818-89887082)x1 | copy number loss | not provided [RCV002474964] | Chr11:89474818..89887082 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NM_001195234.1(TRIM49C):c.212A>G (p.Lys71Arg) | single nucleotide variant | not specified [RCV004200293] | Chr11:90035423 [GRCh38] Chr11:89768591 [GRCh37] Chr11:11q14.3 |
uncertain significance |
GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1 | copy number loss | not provided [RCV002475722] | Chr11:81478509..104667040 [GRCh37] Chr11:11q14.1-22.3 |
pathogenic |
NM_001195234.1(TRIM49C):c.91G>A (p.Gly31Arg) | single nucleotide variant | not specified [RCV004153998] | Chr11:90035302 [GRCh38] Chr11:89768470 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NM_001195234.1(TRIM49C):c.980G>T (p.Ser327Ile) | single nucleotide variant | not specified [RCV004089302] | Chr11:90041171 [GRCh38] Chr11:89774339 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NM_001195234.1(TRIM49C):c.356A>T (p.Gln119Leu) | single nucleotide variant | not specified [RCV004210702] | Chr11:90035567 [GRCh38] Chr11:89768735 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NM_001195234.1(TRIM49C):c.500G>T (p.Cys167Phe) | single nucleotide variant | not specified [RCV004107799] | Chr11:90035976 [GRCh38] Chr11:89769144 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NM_001195234.1(TRIM49C):c.179A>G (p.Glu60Gly) | single nucleotide variant | not specified [RCV004186666] | Chr11:90035390 [GRCh38] Chr11:89768558 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NM_001195234.1(TRIM49C):c.740C>G (p.Ala247Gly) | single nucleotide variant | not specified [RCV004123220] | Chr11:90038694 [GRCh38] Chr11:89771862 [GRCh37] Chr11:11q14.3 |
likely benign |
NM_001195234.1(TRIM49C):c.409C>T (p.Arg137Trp) | single nucleotide variant | not specified [RCV004089226] | Chr11:90035620 [GRCh38] Chr11:89768788 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NM_001195234.1(TRIM49C):c.784A>G (p.Met262Val) | single nucleotide variant | not specified [RCV004190847] | Chr11:90039887 [GRCh38] Chr11:89773055 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NM_001195234.1(TRIM49C):c.274A>C (p.Met92Leu) | single nucleotide variant | not specified [RCV004201032] | Chr11:90035485 [GRCh38] Chr11:89768653 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NM_001195234.1(TRIM49C):c.785T>C (p.Met262Thr) | single nucleotide variant | not specified [RCV004203323] | Chr11:90039888 [GRCh38] Chr11:89773056 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NM_001195234.1(TRIM49C):c.319G>A (p.Asp107Asn) | single nucleotide variant | not specified [RCV004231680] | Chr11:90035530 [GRCh38] Chr11:89768698 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NM_001195234.1(TRIM49C):c.185T>G (p.Ile62Arg) | single nucleotide variant | not specified [RCV004203246] | Chr11:90035396 [GRCh38] Chr11:89768564 [GRCh37] Chr11:11q14.3 |
likely benign |
NM_001195234.1(TRIM49C):c.702C>G (p.Asn234Lys) | single nucleotide variant | not specified [RCV004131648] | Chr11:90037943 [GRCh38] Chr11:89771111 [GRCh37] Chr11:11q14.3 |
likely benign |
NM_001195234.1(TRIM49C):c.424C>A (p.Gln142Lys) | single nucleotide variant | not specified [RCV004260181] | Chr11:90035900 [GRCh38] Chr11:89769068 [GRCh37] Chr11:11q14.3 |
likely benign |
NM_001195234.1(TRIM49C):c.1022A>G (p.Tyr341Cys) | single nucleotide variant | not specified [RCV004256515] | Chr11:90041213 [GRCh38] Chr11:89774381 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NM_001195234.1(TRIM49C):c.878A>G (p.His293Arg) | single nucleotide variant | not specified [RCV004325549] | Chr11:90041069 [GRCh38] Chr11:89774237 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NM_001195234.1(TRIM49C):c.210G>C (p.Leu70Phe) | single nucleotide variant | not specified [RCV004684732] | Chr11:90035421 [GRCh38] Chr11:89768589 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NM_001195234.1(TRIM49C):c.1045G>A (p.Asp349Asn) | single nucleotide variant | not specified [RCV004684736] | Chr11:90041236 [GRCh38] Chr11:89774404 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NM_001195234.1(TRIM49C):c.1044G>T (p.Gly348=) | single nucleotide variant | not provided [RCV003395992] | Chr11:90041235 [GRCh38] Chr11:89774403 [GRCh37] Chr11:11q14.3 |
likely benign |
NC_000011.10:g.90072986C>T | single nucleotide variant | not provided [RCV003395994] | Chr11:90072986 [GRCh38] Chr11:89806154 [GRCh37] Chr11:11q14.3 |
likely benign |
GRCh37/hg19 11q14.3(chr11:89602560-90979365)x3 | copy number gain | not provided [RCV003484848] | Chr11:89602560..90979365 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NC_000011.10:g.90072950G>A | single nucleotide variant | not provided [RCV003395993] | Chr11:90072950 [GRCh38] Chr11:89806118 [GRCh37] Chr11:11q14.3 |
likely benign |
NM_001195234.1(TRIM49C):c.1283G>C (p.Ser428Thr) | single nucleotide variant | not specified [RCV004475941] | Chr11:90041474 [GRCh38] Chr11:89774642 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NM_001195234.1(TRIM49C):c.364C>T (p.Arg122Trp) | single nucleotide variant | not specified [RCV004475942] | Chr11:90035575 [GRCh38] Chr11:89768743 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NM_001195234.1(TRIM49C):c.823A>T (p.Ile275Phe) | single nucleotide variant | not specified [RCV004475944] | Chr11:90039926 [GRCh38] Chr11:89773094 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NM_001195234.1(TRIM49C):c.927G>A (p.Met309Ile) | single nucleotide variant | not specified [RCV004475945] | Chr11:90041118 [GRCh38] Chr11:89774286 [GRCh37] Chr11:11q14.3 |
uncertain significance |
NM_001195234.1(TRIM49C):c.703G>A (p.Glu235Lys) | single nucleotide variant | not specified [RCV004475943] | Chr11:90037944 [GRCh38] Chr11:89771112 [GRCh37] Chr11:11q14.3 |
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. |
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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11 | 51 | 94 | 60 | 219 | 47 | 60 | 7 | 42 | 2 | 42 | 177 | 146 | 1 | 209 | 18 | 426 | 48 | 5 |
Ensembl Acc Id: | ENST00000448984 ⟹ ENSP00000388299 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001195234 ⟹ NP_001182163 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017018126 ⟹ XP_016873615 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_024448656 ⟹ XP_024304424 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_054369639 ⟹ XP_054225614 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054369640 ⟹ XP_054225615 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENSP00000388299 ⟸ ENST00000448984 |
RefSeq Acc Id: | NP_001182163 ⟸ NM_001195234 |
- UniProtKB: | Q9NS80 (UniProtKB/Swiss-Prot), Q6DJV1 (UniProtKB/Swiss-Prot), P0CI26 (UniProtKB/Swiss-Prot), A0AVR9 (UniProtKB/Swiss-Prot), A0AVR7 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_054225614 ⟸ XM_054369639 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054225615 ⟸ XM_054369640 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_016873615 ⟸ XM_017018126 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_024304424 ⟸ XM_024448656 |
- Peptide Label: | isoform X2 |
- Sequence: |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P0CI26-F1-model_v2 | AlphaFold | P0CI26 | 1-452 | view protein structure |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:38877 | AgrOrtholog |
COSMIC | TRIM49C | COSMIC |
Ensembl Genes | ENSG00000204449 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000448984 | ENTREZGENE |
ENST00000448984.1 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 2.60.120.920 | UniProtKB/Swiss-Prot |
3.30.40.10 | UniProtKB/Swiss-Prot | |
Classic Zinc Finger | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000204449 | GTEx |
HGNC ID | HGNC:38877 | ENTREZGENE |
Human Proteome Map | TRIM49C | Human Proteome Map |
InterPro | B30.2/SPRY | UniProtKB/Swiss-Prot |
B30.2/SPRY_sf | UniProtKB/Swiss-Prot | |
Butyrophylin_SPRY | UniProtKB/Swiss-Prot | |
ConA-like_dom_sf | UniProtKB/Swiss-Prot | |
SPRY_dom | UniProtKB/Swiss-Prot | |
TRIM/RBCC | UniProtKB/Swiss-Prot | |
Znf_B-box | UniProtKB/Swiss-Prot | |
Znf_RING | UniProtKB/Swiss-Prot | |
Znf_RING/FYVE/PHD | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:642612 | UniProtKB/Swiss-Prot |
NCBI Gene | TRIM49C | ENTREZGENE |
PANTHER | E3 UBIQUITIN-PROTEIN LIGASE TRIM | UniProtKB/Swiss-Prot |
TRIPARTITE MOTIF-CONTAINING PROTEIN 49-RELATED | UniProtKB/Swiss-Prot | |
Pfam | SPRY | UniProtKB/Swiss-Prot |
zf-B_box | UniProtKB/Swiss-Prot | |
zf-C3HC4_4 | UniProtKB/Swiss-Prot | |
PharmGKB | PA166049036 | PharmGKB |
PRINTS | BUTYPHLNCDUF | UniProtKB/Swiss-Prot |
PROSITE | B302_SPRY | UniProtKB/Swiss-Prot |
ZF_BBOX | UniProtKB/Swiss-Prot | |
ZF_RING_2 | UniProtKB/Swiss-Prot | |
SMART | BBOX | UniProtKB/Swiss-Prot |
RING | UniProtKB/Swiss-Prot | |
SPRY | UniProtKB/Swiss-Prot | |
Superfamily-SCOP | B-box zinc-binding domain | UniProtKB/Swiss-Prot |
RING/U-box | UniProtKB/Swiss-Prot | |
SSF49899 | UniProtKB/Swiss-Prot | |
UniProt | A0AVR7 | ENTREZGENE |
A0AVR9 | ENTREZGENE | |
P0CI26 | ENTREZGENE | |
Q6DJV1 | ENTREZGENE | |
Q9NS80 | ENTREZGENE | |
TR49C_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | A0AVR7 | UniProtKB/Swiss-Prot |
A0AVR9 | UniProtKB/Swiss-Prot | |
Q6DJV1 | UniProtKB/Swiss-Prot | |
Q9NS80 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2023-12-21 | TRIM49C | tripartite motif containing 49C | LOC105378955 | tripartite motif-containing protein 43B | Data Merged | 737654 | PROVISIONAL |
2012-05-29 | TRIM49C | tripartite motif containing 49C | TRIM49L2 | tripartite motif containing 49-like 2 | Symbol and/or name change | 5135510 | APPROVED |
2011-07-27 | TRIM49L2 | tripartite motif containing 49-like 2 | TRIM49L2 | tripartite motif-containing 49-like 2 | Symbol and/or name change | 5135510 | APPROVED |