TRIM49D2 (tripartite motif containing 49D2) - Rat Genome Database

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Gene: TRIM49D2 (tripartite motif containing 49D2) Homo sapiens
Analyze
No known orthologs.
Symbol: TRIM49D2
Name: tripartite motif containing 49D2
RGD ID: 3302193
HGNC Page HGNC:37217
Description: Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in innate immune response and regulation of gene expression. Predicted to be active in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: TRIM48L1; TRIM49D1; TRIM49D2P; TRIM49L; TRIM49L1; tripartite motif containing 49-like 1; tripartite motif containing 49D2, pseudogene; tripartite motif protein 49-like; tripartite motif-containing 49-like; tripartite motif-containing 49-like 1; tripartite motif-containing protein 49-like; tripartite motif-containing protein 49-like protein 1; tripartite motif-containing protein 49D; tripartite motif-containing protein 49D1; tripartite motif-containing protein 49D2; tripartite motif-containing protein 49D2 pseudogene
RGD Orthologs
Alliance Orthologs
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381189,924,064 - 89,933,063 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1189,924,064 - 89,933,063 (+)EnsemblGRCh38hg38GRCh38
GRCh371189,657,232 - 89,666,231 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361189,296,860 - 89,305,883 (+)NCBINCBI36Build 36hg18NCBI36
Celera1152,373,102 - 52,382,016 (+)NCBICelera
Cytogenetic Map11q14.3NCBI
HuRef1185,815,988 - 85,824,992 (-)NCBIHuRef
CHM1_11189,540,998 - 89,548,942 (+)NCBICHM1_1
T2T-CHM13v2.01189,844,011 - 89,853,008 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:21873635   PMID:22144910   PMID:34373451  


Genomics

Variants

.
Variants in TRIM49D2
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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
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(chr11:89727372-89972044)x3 copy number gain See cases [RCV000139678] Chr11:89727372..89972044 [GRCh38]
Chr11:89460540..89705212 [GRCh37]
Chr11:89100188..89344860 [NCBI36]
Chr11:11q14.3		 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 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
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
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 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 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [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 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q14.1-21(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 11q14.3(chr11:89062443-89762600)x3 copy number gain not provided [RCV001006431] Chr11:89062443..89762600 [GRCh37]
Chr11:11q14.3		 likely benign
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
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
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(chr11:84924674-93574799) copy number loss not specified [RCV002052942] Chr11:84924674..93574799 [GRCh37]
Chr11:11q14.1-21		 likely 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(chr11:80318996-96116221) copy number loss not specified [RCV002052941] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21		 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 11q14.3(chr11:89474818-89887082)x1 copy number loss not provided [RCV002474964] Chr11:89474818..89887082 [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
GRCh37/hg19 11q14.3(chr11:89602560-90979365)x3 copy number gain not provided [RCV003484848] Chr11:89602560..90979365 [GRCh37]
Chr11:11q14.3		 uncertain significance
NM_001105522.1(TRIM49D2):c.944G>A (p.Arg315His) single nucleotide variant not specified [RCV004475949] Chr11:89932470 [GRCh38]
Chr11:89665638 [GRCh37]
Chr11:11q14.3		 likely benign

Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
hemolymphoid system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
7 12 9 8 67 5 14 19 29 43 41 42 3 33 12

Sequence


Ensembl Acc Id: ENST00000526396   ⟹   ENSP00000485325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1189,926,762 - 89,932,937 (+)Ensembl
Ensembl Acc Id: ENST00000623787   ⟹   ENSP00000485097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1189,924,064 - 89,933,063 (+)Ensembl
RefSeq Acc Id: NM_001105522   ⟹   NP_001098992
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381189,924,064 - 89,933,063 (+)NCBI
GRCh371189,657,232 - 89,666,231 (+)RGD
Build 361189,296,880 - 89,305,879 (+)NCBI Archive
HuRef1185,815,988 - 85,824,992 (-)NCBI
CHM1_11189,528,243 - 89,537,342 (-)NCBI
T2T-CHM13v2.01189,844,011 - 89,853,008 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001098992 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AFI99090 (Get FASTA)   NCBI Sequence Viewer  
  AFI99091 (Get FASTA)   NCBI Sequence Viewer  
  C9J1S8 (Get FASTA)   NCBI Sequence Viewer  
  EAW50795 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000474678.1
  ENSP00000474850.1
  ENSP00000485097
  ENSP00000485097.1
  ENSP00000485325.1
RefSeq Acc Id: NP_001098992   ⟸   NM_001105522
- UniProtKB: I1YAP9 (UniProtKB/Swiss-Prot),   C9J1S8 (UniProtKB/Swiss-Prot),   A0A087WVN7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000485097   ⟸   ENST00000623787
Ensembl Acc Id: ENSP00000485325   ⟸   ENST00000526396
Protein Domains
B30.2/SPRY

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-C9J1S8-F1-model_v2 AlphaFold C9J1S8 1-452 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:37217 AgrOrtholog
COSMIC TRIM49D2 COSMIC
Ensembl Genes ENSG00000223417 UniProtKB/Swiss-Prot
  ENSG00000233802 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000420869.3 UniProtKB/Swiss-Prot
  ENST00000526396.3 UniProtKB/Swiss-Prot
  ENST00000530311.6 UniProtKB/Swiss-Prot
  ENST00000623787 ENTREZGENE
  ENST00000623787.3 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 ENSG00000223417 GTEx
  ENSG00000233802 GTEx
HGNC ID HGNC:37217 ENTREZGENE
Human Proteome Map TRIM49D2 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:399939 UniProtKB/Swiss-Prot
  hsa:729384 UniProtKB/Swiss-Prot
NCBI Gene 729384 ENTREZGENE
PANTHER E3 UBIQUITIN-PROTEIN LIGASE TRIM UniProtKB/Swiss-Prot
  TRIPARTITE MOTIF-CONTAINING PROTEIN 49D UniProtKB/Swiss-Prot
Pfam SPRY UniProtKB/Swiss-Prot
  zf-B_box UniProtKB/Swiss-Prot
  zf-C3HC4_4 UniProtKB/Swiss-Prot
PharmGKB PA165543723 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 A0A087WVN7 ENTREZGENE
  C9J1S8 ENTREZGENE
  I1YAP9 ENTREZGENE
  TR49D_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary I1YAP9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-02-18 TRIM49D2  tripartite motif containing 49D2  TRIM49D2P  tripartite motif containing 49D2, pseudogene  Symbol and/or name change 5135510 APPROVED
2013-01-22 TRIM49D2P  tripartite motif containing 49D2, pseudogene  TRIM49L1  tripartite motif containing 49-like 1  Symbol and/or name change 5135510 APPROVED
2011-07-27 TRIM49L1  tripartite motif containing 49-like 1  TRIM49L  tripartite motif-containing 49-like  Symbol and/or name change 5135510 APPROVED