SMIM13 (small integral membrane protein 13) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: SMIM13 (small integral membrane protein 13) Homo sapiens
Analyze
Symbol: SMIM13
Name: small integral membrane protein 13
RGD ID: 5508051
HGNC Page HGNC:27356
Description: Predicted to be located in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C6orf228; hypothetical protein LOC221710; uncharacterized protein LOC221710; UPF0766 protein C6orf228
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38611,093,834 - 11,138,733 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl611,093,834 - 11,138,733 (+)EnsemblGRCh38hg38GRCh38
GRCh37611,094,067 - 11,138,966 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36611,242,617 - 11,246,957 (+)NCBINCBI36Build 36hg18NCBI36
Celera612,322,733 - 12,367,437 (+)NCBICelera
Cytogenetic Map6p24.2NCBI
HuRef611,025,782 - 11,070,397 (+)NCBIHuRef
CHM1_1611,096,365 - 11,141,415 (+)NCBICHM1_1
T2T-CHM13v2.0610,961,754 - 11,006,653 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IEA)

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:25130324   PMID:27609421   PMID:29117863  


Genomics

Comparative Map Data
SMIM13
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38611,093,834 - 11,138,733 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl611,093,834 - 11,138,733 (+)EnsemblGRCh38hg38GRCh38
GRCh37611,094,067 - 11,138,966 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36611,242,617 - 11,246,957 (+)NCBINCBI36Build 36hg18NCBI36
Celera612,322,733 - 12,367,437 (+)NCBICelera
Cytogenetic Map6p24.2NCBI
HuRef611,025,782 - 11,070,397 (+)NCBIHuRef
CHM1_1611,096,365 - 11,141,415 (+)NCBICHM1_1
T2T-CHM13v2.0610,961,754 - 11,006,653 (+)NCBIT2T-CHM13v2.0
Smim13
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391341,403,320 - 41,430,053 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1341,403,320 - 41,430,053 (+)EnsemblGRCm39 Ensembl
GRCm381341,249,844 - 41,276,577 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1341,249,844 - 41,276,577 (+)EnsemblGRCm38mm10GRCm38
MGSCv371341,345,213 - 41,371,946 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361341,345,213 - 41,371,946 (+)NCBIMGSCv36mm8
Celera1342,331,977 - 42,358,679 (+)NCBICelera
Cytogenetic Map13A4NCBI
cM Map1320.41NCBI
Smim13
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81723,703,414 - 23,721,457 (-)NCBIGRCr8
mRatBN7.21723,497,662 - 23,515,705 (-)NCBImRatBN7.2mRatBN7.2
UTH_Rnor_SHR_Utx1723,366,759 - 23,384,816 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01724,970,448 - 24,988,505 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01723,307,712 - 23,325,771 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01721,334,989 - 21,353,252 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1721,339,059 - 21,353,134 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01723,323,000 - 23,337,383 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41729,430,963 - 29,445,347 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1723,169,508 - 23,187,549 (-)NCBICelera
Cytogenetic Map17p12NCBI
Smim13
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554653,321,886 - 3,343,467 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554653,321,886 - 3,343,467 (-)NCBIChiLan1.0ChiLan1.0
SMIM13
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2525,741,001 - 25,785,445 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1621,730,474 - 21,775,474 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0610,932,158 - 10,976,874 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1611,208,331 - 11,252,281 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl611,208,331 - 11,252,269 (+)Ensemblpanpan1.1panPan2
SMIM13
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13510,783,392 - 10,811,914 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3510,732,363 - 10,760,956 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03510,885,428 - 10,909,960 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3510,885,462 - 10,910,365 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13510,716,109 - 10,744,704 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03510,764,472 - 10,793,092 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03512,086,122 - 12,114,646 (+)NCBIUU_Cfam_GSD_1.0
Smim13
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494613,632,561 - 13,642,249 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365341,901,959 - 1,911,235 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SMIM13
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl77,774,542 - 7,779,936 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.177,774,547 - 7,784,038 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.278,172,176 - 8,177,543 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SMIM13
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11761,007,013 - 61,049,871 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1761,011,107 - 61,049,381 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604411,125,782 - 11,169,049 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Smim13
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475614,883,126 - 14,902,371 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SMIM13
18 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3 copy number gain See cases [RCV000051896] Chr6:389423..13474956 [GRCh38]
Chr6:389423..13475188 [GRCh37]
Chr6:334423..13583167 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3 copy number gain See cases [RCV000051869] Chr6:106431..18360595 [GRCh38]
Chr6:106431..18360826 [GRCh37]
Chr6:51431..18468805 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3 copy number gain See cases [RCV000134022] Chr6:164360..13339881 [GRCh38]
Chr6:164360..13340113 [GRCh37]
Chr6:109360..13448092 [NCBI36]
Chr6:6p25.3-24.1		 pathogenic
GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1 copy number loss See cases [RCV000136132] Chr6:4068792..13267799 [GRCh38]
Chr6:4069026..13268031 [GRCh37]
Chr6:4014025..13376010 [NCBI36]
Chr6:6p25.2-24.1		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:152634-15732163)x3 copy number gain See cases [RCV000138121] Chr6:152634..15732163 [GRCh38]
Chr6:152634..15732394 [GRCh37]
Chr6:97634..15840373 [NCBI36]
Chr6:6p25.3-22.3		 likely benign
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3 copy number gain See cases [RCV000140307] Chr6:155807..17058414 [GRCh38]
Chr6:155807..17058645 [GRCh37]
Chr6:100807..17166624 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1 copy number loss See cases [RCV000142410] Chr6:10601499..13987316 [GRCh38]
Chr6:10601732..13987547 [GRCh37]
Chr6:10709718..14095526 [NCBI36]
Chr6:6p24.2-23		 pathogenic
GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3 copy number gain See cases [RCV000142295] Chr6:156974..11550817 [GRCh38]
Chr6:156974..11551050 [GRCh37]
Chr6:101974..11659036 [NCBI36]
Chr6:6p25.3-24.2		 likely pathogenic
GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1 copy number loss See cases [RCV000142435] Chr6:2862640..16697788 [GRCh38]
Chr6:2862874..16698019 [GRCh37]
Chr6:2807873..16805998 [NCBI36]
Chr6:6p25.2-22.3		 pathogenic
GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3 copy number gain See cases [RCV000143334] Chr6:152634..14417003 [GRCh38]
Chr6:152634..14417234 [GRCh37]
Chr6:97634..14525213 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3 copy number gain See cases [RCV000143698] Chr6:156974..13081201 [GRCh38]
Chr6:156974..13081433 [GRCh37]
Chr6:101974..13189419 [NCBI36]
Chr6:6p25.3-24.1		 likely pathogenic
GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1 copy number loss See cases [RCV000143782] Chr6:156974..13855925 [GRCh38]
Chr6:156974..13856156 [GRCh37]
Chr6:101974..13964135 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1 copy number loss See cases [RCV000240433] Chr6:204009..11608587 [GRCh37]
Chr6:6p25.3-24.1		 pathogenic
GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1 copy number loss See cases [RCV000240576] Chr6:5354402..17950079 [GRCh37]
Chr6:6p25.1-22.3		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3 copy number gain See cases [RCV000240460] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:302272-18375047)x3 copy number gain See cases [RCV000446145] Chr6:302272..18375047 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)x3 copy number gain See cases [RCV000447409] Chr6:8269414..17402660 [GRCh37]
Chr6:6p24.3-22.3		 likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_207582.3(ERVFRD-1):c.374T>C (p.Ile125Thr) single nucleotide variant not specified [RCV004323657] Chr6:11104937 [GRCh38]
Chr6:11105170 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_001135575.2(SMIM13):c.242C>G (p.Ala81Gly) single nucleotide variant not specified [RCV004310867] Chr6:11134568 [GRCh38]
Chr6:11134801 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_001135575.2(SMIM13):c.257G>C (p.Gly86Ala) single nucleotide variant not specified [RCV004322751] Chr6:11134583 [GRCh38]
Chr6:11134816 [GRCh37]
Chr6:6p24.2		 uncertain significance
GRCh37/hg19 6p25.1-24.2(chr6:6990611-11276452)x1 copy number loss not provided [RCV000682643] Chr6:6990611..11276452 [GRCh37]
Chr6:6p25.1-24.2		 pathogenic
GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3 copy number gain not provided [RCV000682628] Chr6:156974..13502033 [GRCh37]
Chr6:6p25.3-23		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3 copy number gain not provided [RCV000682629] Chr6:156974..21955964 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
Single allele duplication not provided [RCV000677944] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3 copy number gain not provided [RCV000848108] Chr6:156974..23221621 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660) copy number gain not specified [RCV002053552] Chr6:8269414..17402660 [GRCh37]
Chr6:6p24.3-22.3		 likely pathogenic
NM_207582.3(ERVFRD-1):c.347A>G (p.Asn116Ser) single nucleotide variant not specified [RCV004200468] Chr6:11104964 [GRCh38]
Chr6:11105197 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_207582.3(ERVFRD-1):c.1463G>T (p.Gly488Val) single nucleotide variant not specified [RCV004137106] Chr6:11103848 [GRCh38]
Chr6:11104081 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_207582.3(ERVFRD-1):c.806T>C (p.Ile269Thr) single nucleotide variant not specified [RCV004239956] Chr6:11104505 [GRCh38]
Chr6:11104738 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_207582.3(ERVFRD-1):c.53G>A (p.Arg18His) single nucleotide variant not specified [RCV004088315] Chr6:11105258 [GRCh38]
Chr6:11105491 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_207582.3(ERVFRD-1):c.629C>G (p.Ala210Gly) single nucleotide variant not specified [RCV004104073] Chr6:11104682 [GRCh38]
Chr6:11104915 [GRCh37]
Chr6:6p24.2		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3 copy number gain See cases [RCV002509885] Chr6:820000..21700000 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NM_207582.3(ERVFRD-1):c.554T>G (p.Leu185Trp) single nucleotide variant not specified [RCV004218409] Chr6:11104757 [GRCh38]
Chr6:11104990 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_207582.3(ERVFRD-1):c.701G>A (p.Arg234Gln) single nucleotide variant not specified [RCV004154507] Chr6:11104610 [GRCh38]
Chr6:11104843 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_001135575.2(SMIM13):c.97C>G (p.Leu33Val) single nucleotide variant not specified [RCV004119155] Chr6:11134423 [GRCh38]
Chr6:11134656 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_207582.3(ERVFRD-1):c.232T>G (p.Trp78Gly) single nucleotide variant not specified [RCV004183442] Chr6:11105079 [GRCh38]
Chr6:11105312 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_207582.3(ERVFRD-1):c.523C>T (p.Pro175Ser) single nucleotide variant not specified [RCV004114890] Chr6:11104788 [GRCh38]
Chr6:11105021 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_001135575.2(SMIM13):c.200C>T (p.Ser67Phe) single nucleotide variant not specified [RCV004221226] Chr6:11134526 [GRCh38]
Chr6:11134759 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_207582.3(ERVFRD-1):c.785T>C (p.Ile262Thr) single nucleotide variant not specified [RCV004257848] Chr6:11104526 [GRCh38]
Chr6:11104759 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_207582.3(ERVFRD-1):c.674C>T (p.Ala225Val) single nucleotide variant not specified [RCV004264998] Chr6:11104637 [GRCh38]
Chr6:11104870 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_207582.3(ERVFRD-1):c.182C>T (p.Ser61Leu) single nucleotide variant not specified [RCV004360105] Chr6:11105129 [GRCh38]
Chr6:11105362 [GRCh37]
Chr6:6p24.2		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3 copy number gain not provided [RCV003484635] Chr6:156975..15478095 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NM_001135575.2(SMIM13):c.226G>C (p.Ala76Pro) single nucleotide variant not specified [RCV004461945] Chr6:11134552 [GRCh38]
Chr6:11134785 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_207582.3(ERVFRD-1):c.770T>C (p.Leu257Ser) single nucleotide variant not specified [RCV004380802] Chr6:11104541 [GRCh38]
Chr6:11104774 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_207582.3(ERVFRD-1):c.401G>T (p.Gly134Val) single nucleotide variant not specified [RCV004380800] Chr6:11104910 [GRCh38]
Chr6:11105143 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_207582.3(ERVFRD-1):c.571C>T (p.Arg191Trp) single nucleotide variant not specified [RCV004380801] Chr6:11104740 [GRCh38]
Chr6:11104973 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_207582.3(ERVFRD-1):c.209C>T (p.Ala70Val) single nucleotide variant not specified [RCV004380798] Chr6:11105102 [GRCh38]
Chr6:11105335 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_207582.3(ERVFRD-1):c.310C>T (p.Arg104Cys) single nucleotide variant not specified [RCV004380799] Chr6:11105001 [GRCh38]
Chr6:11105234 [GRCh37]
Chr6:6p24.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1549
Count of miRNA genes:761
Interacting mature miRNAs:883
Transcripts:ENST00000376935, ENST00000416247
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2289408BW324_HBody weight QTL 324 (human)3.150.0001Body fat amount6120803913Human
1358854MULTSCL4_HMultiple sclerosis susceptibility QTL 4 (human)Multiple sclerosis susceptibility6691196032911960Human
1643418BW282_HBody Weight QTL 282 (human)2.070.001Body weight6119321359Human
406957029GWAS606005_Hdiabetic nephropathy QTL GWAS606005 (human)0.000009diabetic nephropathy61110168511101686Human
1643377BW325_HBody weight QTL 325 (human)2.320.0005Body fat amount6691196032911960Human
1643569GLUCO21_HGlucose level QTL 21 (human)0.021Glucose levelnon-insulin-dependent6691196032911960Human
2289435BMD4_HBone mineral density QTL 4 (human)3.150.0001Bone mineral density6120803913Human
1298458BW9_HBody weight QTL 9 (human)2.70.0002Body fat amount6691196032911960Human
2292824PRSTS5_HProstate tumor susceptibility QTL 5 (human)Prostate tumor susceptibility6119232373Human
2289320BW390_HBody weight QTL 390 (human)2.13Body weightBMI6119321359Human
1643495BW291_HBody Weight QTL 291 (human)2.13Body weightBMI6119321359Human
1643399BMD5_HBone mineral density QTL 5 (human)2.320.0005Bone mineral density6691196032911960Human

Markers in Region
WIAF-1567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37611,102,730 - 11,102,898UniSTSGRCh37
Build 36611,210,716 - 11,210,884RGDNCBI36
Celera612,331,197 - 12,331,365RGD
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map6p24.1UniSTS
HuRef611,034,176 - 11,034,344UniSTS
GeneMap99-GB4 RH Map649.55UniSTS
NCBI RH Map6114.4UniSTS
SHGC-33794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37611,102,729 - 11,102,855UniSTSGRCh37
Build 36611,210,715 - 11,210,841RGDNCBI36
Celera612,331,196 - 12,331,322RGD
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map6p24.1UniSTS
HuRef611,034,175 - 11,034,301UniSTS
GeneMap99-GB4 RH Map647.45UniSTS
GeneMap99-GB4 RH Map647.84UniSTS
Whitehead-RH Map669.7UniSTS
NCBI RH Map6119.3UniSTS
GeneMap99-G3 RH Map6325.0UniSTS
AL031214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37611,108,853 - 11,108,983UniSTSGRCh37
Build 36611,216,839 - 11,216,969RGDNCBI36
Celera612,337,320 - 12,337,450RGD
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map6p24.1UniSTS
HuRef611,040,299 - 11,040,429UniSTS
PMC228468P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37611,105,170 - 11,105,283UniSTSGRCh37
Build 36611,213,156 - 11,213,269RGDNCBI36
Celera612,333,637 - 12,333,750RGD
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map6p24.1UniSTS
HuRef611,036,616 - 11,036,729UniSTS
RH15828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37611,138,746 - 11,138,915UniSTSGRCh37
Build 36611,246,732 - 11,246,901RGDNCBI36
Celera612,367,212 - 12,367,381RGD
Cytogenetic Map6p24.2UniSTS
HuRef611,070,172 - 11,070,341UniSTS
GeneMap99-GB4 RH Map648.14UniSTS
NCBI RH Map6114.4UniSTS
STS-N26559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37611,134,866 - 11,134,987UniSTSGRCh37
Build 36611,242,852 - 11,242,973RGDNCBI36
Celera612,363,333 - 12,363,454RGD
Cytogenetic Map6p24.2UniSTS
HuRef611,066,294 - 11,066,415UniSTS
GeneMap99-GB4 RH Map649.55UniSTS
NCBI RH Map6114.4UniSTS
D6S1201E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37611,138,636 - 11,138,767UniSTSGRCh37
Build 36611,246,622 - 11,246,753RGDNCBI36
Celera612,367,102 - 12,367,233RGD
Cytogenetic Map6p24.2UniSTS
HuRef611,070,062 - 11,070,193UniSTS
GeneMap99-GB4 RH Map649.55UniSTS
NCBI RH Map6114.4UniSTS
RH17888  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37611,102,781 - 11,102,981UniSTSGRCh37
Build 36611,210,767 - 11,210,967RGDNCBI36
Celera612,331,248 - 12,331,448RGD
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map6p24.1UniSTS
HuRef611,034,227 - 11,034,427UniSTS
GeneMap99-GB4 RH Map649.55UniSTS
NCBI RH Map6114.4UniSTS
RH12397  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37611,137,164 - 11,137,332UniSTSGRCh37
Build 36611,245,150 - 11,245,318RGDNCBI36
Celera612,365,631 - 12,365,799RGD
Cytogenetic Map6p24.2UniSTS
HuRef611,068,591 - 11,068,759UniSTS
GeneMap99-GB4 RH Map651.07UniSTS
NCBI RH Map6114.4UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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 289 146 182 114 399 117 942 222 2732 114 383 355 11 42 604 4
Low 2150 2621 1544 510 1331 348 3415 1972 1002 304 1076 1258 164 1 1162 2184 1 2
Below cutoff 223 221 2 1 1

Sequence


Ensembl Acc Id: ENST00000376935   ⟹   ENSP00000452219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl611,094,231 - 11,135,811 (+)Ensembl
Ensembl Acc Id: ENST00000416247   ⟹   ENSP00000451866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl611,093,834 - 11,138,733 (+)Ensembl
RefSeq Acc Id: NM_001135575   ⟹   NP_001129047
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38611,093,834 - 11,138,733 (+)NCBI
GRCh37611,094,266 - 11,138,971 (+)ENTREZGENE
HuRef611,025,782 - 11,070,397 (+)ENTREZGENE
CHM1_1611,096,365 - 11,141,415 (+)NCBI
T2T-CHM13v2.0610,961,754 - 11,006,653 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001129047 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAG61679 (Get FASTA)   NCBI Sequence Viewer  
  EAW55298 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000451866
  ENSP00000451866.1
  ENSP00000452219.1
GenBank Protein P0DJ93 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001129047   ⟸   NM_001135575
- UniProtKB: G3V581 (UniProtKB/Swiss-Prot),   P0DJ93 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000452219   ⟸   ENST00000376935
Ensembl Acc Id: ENSP00000451866   ⟸   ENST00000416247

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P0DJ93-F1-model_v2 AlphaFold P0DJ93 1-91 view protein structure

Promoters
RGD ID:6872048
Promoter ID:EPDNEW_H9189
Type:initiation region
Name:SMIM13_1
Description:small integral membrane protein 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9190  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38611,093,834 - 11,093,894EPDNEW
RGD ID:6872050
Promoter ID:EPDNEW_H9190
Type:initiation region
Name:SMIM13_2
Description:small integral membrane protein 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9189  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38611,094,194 - 11,094,254EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27356 AgrOrtholog
COSMIC SMIM13 COSMIC
Ensembl Genes ENSG00000224531 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000376935.4 UniProtKB/Swiss-Prot
  ENST00000416247 ENTREZGENE
  ENST00000416247.4 UniProtKB/Swiss-Prot
GTEx ENSG00000224531 GTEx
HGNC ID HGNC:27356 ENTREZGENE
Human Proteome Map SMIM13 Human Proteome Map
InterPro DUF4750 UniProtKB/Swiss-Prot
KEGG Report hsa:221710 UniProtKB/Swiss-Prot
NCBI Gene 221710 ENTREZGENE
PANTHER PTHR36877 UniProtKB/Swiss-Prot
  SMALL INTEGRAL MEMBRANE PROTEIN 13 UniProtKB/Swiss-Prot
Pfam DUF4750 UniProtKB/Swiss-Prot
PharmGKB PA166048980 PharmGKB
UniProt G3V581 ENTREZGENE
  P0DJ93 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary G3V581 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-12-12 SMIM13  small integral membrane protein 13  C6orf228  chromosome 6 open reading frame 228  Symbol and/or name change 5135510 APPROVED