Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SMIM43 | Human | type 2 diabetes mellitus | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28869590 | |
|
Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SMIM43 | Human | type 2 diabetes mellitus | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28869590 | |
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12477932 | PMID:14702039 | PMID:15489334 | PMID:15815621 | PMID:16344560 | PMID:26186194 | PMID:28514442 | PMID:35810171 |
SMIM43 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Smim43 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Smim43 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Smim43 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SMIM43 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SMIM43 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Smim43 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SMIM43 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SMIM43 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Smim43 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in SMIM43
3 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 4q27(chr4:121636147-122327601)x3 | copy number gain | See cases [RCV000051634] | Chr4:121636147..122327601 [GRCh38] Chr4:122557302..123248756 [GRCh37] Chr4:122776752..123468206 [NCBI36] Chr4:4q27 |
uncertain significance |
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 | copy number gain | See cases [RCV000051785] | Chr4:118065569..190042639 [GRCh38] Chr4:118986724..190828225 [GRCh37] Chr4:119206172..191200788 [NCBI36] Chr4:4q26-35.2 |
pathogenic |
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 | copy number gain | See cases [RCV000051786] | Chr4:121518223..190062270 [GRCh38] Chr4:122439378..190828225 [GRCh37] Chr4:122658828..191220419 [NCBI36] Chr4:4q27-35.2 |
pathogenic |
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] | Chr4:92913386..165299707 [GRCh38] Chr4:93834537..166220859 [GRCh37] Chr4:94053560..166440309 [NCBI36] Chr4:4q22.2-32.3 |
pathogenic |
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 | copy number gain | See cases [RCV000051776] | Chr4:96092893..136410207 [GRCh38] Chr4:97014044..137331362 [GRCh37] Chr4:97233067..137550812 [NCBI36] Chr4:4q22.3-28.3 |
pathogenic |
GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1 | copy number loss | See cases [RCV000053321] | Chr4:116630862..145429900 [GRCh38] Chr4:117552018..146351052 [GRCh37] Chr4:117771466..146570502 [NCBI36] Chr4:4q26-31.21 |
pathogenic |
GRCh38/hg38 4q27(chr4:121164018-122098913)x1 | copy number loss | See cases [RCV000137335] | Chr4:121164018..122098913 [GRCh38] Chr4:122085173..123020068 [GRCh37] Chr4:122304623..123239518 [NCBI36] Chr4:4q27 |
uncertain significance |
GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1 | copy number loss | See cases [RCV000143207] | Chr4:117351881..133565667 [GRCh38] Chr4:118273037..134486822 [GRCh37] Chr4:118492485..134706272 [NCBI36] Chr4:4q26-28.3 |
pathogenic |
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 | copy number gain | See cases [RCV000240392] | Chr4:119437495..190904301 [GRCh37] Chr4:4q26-35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 | copy number gain | See cases [RCV000446653] | Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q27(chr4:122577041-122794813)x3 | copy number gain | See cases [RCV000445785] | Chr4:122577041..122794813 [GRCh37] Chr4:4q27 |
uncertain significance |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) | copy number gain | See cases [RCV000510453] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 | copy number gain | See cases [RCV000511945] | Chr4:109199664..189752726 [GRCh37] Chr4:4q25-35.2 |
pathogenic |
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 | copy number gain | See cases [RCV000510970] | Chr4:93071152..190957473 [GRCh37] Chr4:4q22.1-35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 | copy number gain | See cases [RCV000512241] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1 | copy number loss | not provided [RCV000682448] | Chr4:116307857..129302960 [GRCh37] Chr4:4q26-28.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 | copy number gain | not provided [RCV000743155] | Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 | copy number gain | not provided [RCV000743156] | Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 | copy number gain | not provided [RCV000743147] | Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q27(chr4:122547684-123268279)x3 | copy number gain | not provided [RCV000849513] | Chr4:122547684..123268279 [GRCh37] Chr4:4q27 |
uncertain significance |
Single allele | deletion | Neurodevelopmental disorder [RCV000787448] | Chr4:116624547..126168646 [GRCh37] Chr4:4q26-28.1 |
likely pathogenic |
GRCh37/hg19 4q26-28.2(chr4:116833638-130232122) | copy number loss | Atypical behavior [RCV001352657] | Chr4:116833638..130232122 [GRCh37] Chr4:4q26-28.2 |
pathogenic |
GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1 | copy number loss | not provided [RCV001795851] | Chr4:114872547..138005267 [GRCh37] Chr4:4q26-28.3 |
pathogenic |
GRCh37/hg19 4q26-28.2(chr4:116888785-129649979) | copy number loss | not specified [RCV002053451] | Chr4:116888785..129649979 [GRCh37] Chr4:4q26-28.2 |
pathogenic |
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 | copy number gain | not provided [RCV001827738] | Chr4:52866944..143582507 [GRCh37] Chr4:4q12-31.21 |
pathogenic |
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) | copy number gain | not specified [RCV002053446] | Chr4:104715235..145252595 [GRCh37] Chr4:4q24-31.21 |
pathogenic |
GRCh37/hg19 4q27(chr4:122577041-122794813) | copy number gain | not specified [RCV002053453] | Chr4:122577041..122794813 [GRCh37] Chr4:4q27 |
uncertain significance |
NC_000004.11:g.(?_121616266)_(124323706_?)dup | duplication | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [RCV003113657] | Chr4:121616266..124323706 [GRCh37] Chr4:4q27-28.1 |
uncertain significance |
NM_001384332.1(SMIM43):c.*362A>T | single nucleotide variant | not specified [RCV004248478] | Chr4:121761675 [GRCh38] Chr4:122682830 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384332.1(SMIM43):c.*442T>C | single nucleotide variant | not specified [RCV004343018] | Chr4:121761595 [GRCh38] Chr4:122682750 [GRCh37] Chr4:4q27 |
uncertain significance |
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 | copy number gain | not provided [RCV003484198] | Chr4:117518683..168174703 [GRCh37] Chr4:4q26-32.3 |
pathogenic |
GRCh37/hg19 4q27(chr4:122547685-123261107)x3 | copy number gain | not provided [RCV003484201] | Chr4:122547685..123261107 [GRCh37] Chr4:4q27 |
uncertain significance |
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 | copy number gain | not specified [RCV003986496] | Chr4:101203509..190957473 [GRCh37] Chr4:4q24-35.2 |
pathogenic |
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 | copy number gain | not provided [RCV003885507] | Chr4:45455621..191003541 [GRCh37] Chr4:4p12-q35.2 |
pathogenic |
NM_001384332.1(SMIM43):c.*409C>G | single nucleotide variant | not specified [RCV004461974] | Chr4:121761628 [GRCh38] Chr4:122682783 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384332.1(SMIM43):c.*330A>C | single nucleotide variant | not specified [RCV004461975] | Chr4:121761841 [GRCh38] Chr4:122682996 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384332.1(SMIM43):c.*294T>G | single nucleotide variant | not specified [RCV004461976] | Chr4:121761877 [GRCh38] Chr4:122683032 [GRCh37] Chr4:4q27 |
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. |
Cda1kd08 |
|
|||||||||||||||||||||||||||||||||||
SHGC-50333 |
|
|||||||||||||||||||||||||||||||||||
SHGC-19128 |
|
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 | ||||||||||||||||||
Medium | 18 | 9 | 3 | 1 | 23 | 1 | 204 | 829 | 5 | 7 | 5 | 1 | 201 | 1 | ||||
Low | 1520 | 290 | 83 | 20 | 290 | 17 | 784 | 775 | 1079 | 87 | 563 | 203 | 4 | 1 | 326 | 436 | 3 | 1 |
Below cutoff | 735 | 1942 | 1089 | 325 | 730 | 194 | 1894 | 757 | 1297 | 148 | 676 | 1139 | 135 | 760 | 1066 |
RefSeq Acc Id: | ENST00000394394 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000394396 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000461198 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000505198 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000506551 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000513254 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000514885 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000643663 ⟹ ENSP00000495936 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000643802 ⟹ ENSP00000495721 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001384332 ⟹ NP_001371261 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001384333 ⟹ NP_001371262 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001384334 ⟹ NP_001371263 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_169194 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_169195 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_169196 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_054348897 ⟹ XP_054204872 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348898 ⟹ XP_054204873 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSP00000495936 ⟸ ENST00000643663 |
RefSeq Acc Id: | ENSP00000495721 ⟸ ENST00000643802 |
RefSeq Acc Id: | NP_001371262 ⟸ NM_001384333 |
- UniProtKB: | Q4W5P6 (UniProtKB/Swiss-Prot), D3DNW9 (UniProtKB/Swiss-Prot), A0A2R8YEN4 (UniProtKB/Swiss-Prot), Q96NI2 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001371261 ⟸ NM_001384332 |
- UniProtKB: | Q4W5P6 (UniProtKB/Swiss-Prot), D3DNW9 (UniProtKB/Swiss-Prot), A0A2R8YEN4 (UniProtKB/Swiss-Prot), Q96NI2 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001371263 ⟸ NM_001384334 |
- UniProtKB: | Q4W5P6 (UniProtKB/Swiss-Prot), D3DNW9 (UniProtKB/Swiss-Prot), A0A2R8YEN4 (UniProtKB/Swiss-Prot), Q96NI2 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054204873 ⟸ XM_054348898 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q96NI2 (UniProtKB/Swiss-Prot), Q4W5P6 (UniProtKB/Swiss-Prot), D3DNW9 (UniProtKB/Swiss-Prot), A0A2R8YEN4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054204872 ⟸ XM_054348897 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q96NI2 (UniProtKB/Swiss-Prot), Q4W5P6 (UniProtKB/Swiss-Prot), D3DNW9 (UniProtKB/Swiss-Prot), A0A2R8YEN4 (UniProtKB/Swiss-Prot) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q4W5P6-F1-model_v2 | AlphaFold | Q4W5P6 | 1-63 | view protein structure |
AF-A0A7E1QX52-F1-model_v2 | AlphaFold | A0A7E1QX52 | 1-130 | view protein structure |
RGD ID: | 6868398 | ||||||||
Promoter ID: | EPDNEW_H7364 | ||||||||
Type: | initiation region | ||||||||
Name: | TMEM155_3 | ||||||||
Description: | transmembrane protein 155 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H7365 EPDNEW_H7366 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6868400 | ||||||||
Promoter ID: | EPDNEW_H7365 | ||||||||
Type: | initiation region | ||||||||
Name: | TMEM155_2 | ||||||||
Description: | transmembrane protein 155 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H7364 EPDNEW_H7366 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6868402 | ||||||||
Promoter ID: | EPDNEW_H7366 | ||||||||
Type: | initiation region | ||||||||
Name: | TMEM155_1 | ||||||||
Description: | transmembrane protein 155 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H7364 EPDNEW_H7365 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
COSMIC | SMIM43 | COSMIC |
Ensembl Genes | ENSG00000164112 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000394396 | ENTREZGENE |
ENST00000461198 | ENTREZGENE | |
ENST00000643663 | UniProtKB/TrEMBL | |
ENST00000643663.2 | UniProtKB/Swiss-Prot | |
ENST00000643802 | ENTREZGENE | |
ENST00000643802.2 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000164112 | GTEx |
HGNC ID | HGNC:55077 | ENTREZGENE |
Human Proteome Map | SMIM43 | Human Proteome Map |
NCBI Gene | 132332 | ENTREZGENE |
UniProt | A0A2R8YEN4 | ENTREZGENE |
A0A7E1QX52_HUMAN | UniProtKB/TrEMBL | |
D3DNW9 | ENTREZGENE | |
Q4W5P6 | ENTREZGENE | |
Q96NI2 | ENTREZGENE | |
TM155_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | A0A2R8YEN4 | UniProtKB/Swiss-Prot |
D3DNW9 | UniProtKB/Swiss-Prot | |
Q96NI2 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2020-06-22 | SMIM43 | small integral membrane protein 43 | TMEM155 | transmembrane protein 155 | Symbol and/or name change | 19259463 | PROVISIONAL |