IGSF3 (immunoglobulin superfamily member 3) - Rat Genome Database

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Gene: IGSF3 (immunoglobulin superfamily member 3) Homo sapiens
Analyze
Symbol: IGSF3
Name: immunoglobulin superfamily member 3
RGD ID: 1317196
HGNC Page HGNC:5950
Description: Involved in lacrimal gland development. Located in cell surface. Implicated in lacrimal duct obstruction.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: EWI-3; glu-Trp-Ile EWI motif-containing protein 3; immunoglobin superfamily, member 3; immunoglobulin superfamily, member 3; LCDD; MGC117164; V8
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: IGSF3P1   IGSF3P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381116,574,398 - 116,667,755 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1116,574,399 - 116,667,755 (-)EnsemblGRCh38hg38GRCh38
GRCh371117,117,020 - 117,210,377 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361116,918,554 - 117,011,837 (-)NCBINCBI36Build 36hg18NCBI36
Build 341116,829,072 - 116,922,356NCBI
Celera1115,345,546 - 115,438,824 (-)NCBICelera
Cytogenetic Map1p13.1NCBI
HuRef1114,976,619 - 115,069,496 (-)NCBIHuRef
CHM1_11117,231,888 - 117,325,242 (-)NCBICHM1_1
T2T-CHM13v2.01116,584,842 - 116,678,201 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cell surface  (HDA)
membrane  (IBA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9455484   PMID:9790749   PMID:12477932   PMID:14702039   PMID:19581412   PMID:21873635   PMID:22268729   PMID:23829686   PMID:24372406   PMID:25921289   PMID:26186194   PMID:26460568  
PMID:28514442   PMID:29180619   PMID:29507755   PMID:30021884   PMID:30639242   PMID:30745168   PMID:31182584   PMID:31560140   PMID:31871319   PMID:32573489   PMID:33961781   PMID:34079125  
PMID:35337019   PMID:35559673   PMID:35844135   PMID:36237976  


Genomics

Comparative Map Data
IGSF3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381116,574,398 - 116,667,755 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1116,574,399 - 116,667,755 (-)EnsemblGRCh38hg38GRCh38
GRCh371117,117,020 - 117,210,377 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361116,918,554 - 117,011,837 (-)NCBINCBI36Build 36hg18NCBI36
Build 341116,829,072 - 116,922,356NCBI
Celera1115,345,546 - 115,438,824 (-)NCBICelera
Cytogenetic Map1p13.1NCBI
HuRef1114,976,619 - 115,069,496 (-)NCBIHuRef
CHM1_11117,231,888 - 117,325,242 (-)NCBICHM1_1
T2T-CHM13v2.01116,584,842 - 116,678,201 (-)NCBIT2T-CHM13v2.0
Igsf3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393101,284,301 - 101,370,376 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3101,284,399 - 101,370,375 (+)EnsemblGRCm39 Ensembl
GRCm383101,376,672 - 101,463,060 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3101,377,083 - 101,463,059 (+)EnsemblGRCm38mm10GRCm38
MGSCv373101,181,048 - 101,266,983 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363101,507,374 - 101,589,930 (+)NCBIMGSCv36mm8
Celera3103,591,266 - 103,677,320 (+)NCBICelera
Cytogenetic Map3F2.2NCBI
cM Map344.3NCBI
Igsf3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22188,811,394 - 188,899,645 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2188,811,380 - 188,899,645 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2196,446,346 - 196,532,971 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.02194,298,571 - 194,385,194 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.02189,123,271 - 189,209,768 (+)NCBIRnor_WKY
Rnor_6.02203,768,364 - 203,855,573 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2203,768,117 - 203,855,573 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02223,212,084 - 223,299,218 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42196,495,204 - 196,530,084 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12196,408,513 - 196,490,262 (+)NCBI
Celera2181,251,108 - 181,337,130 (+)NCBICelera
Cytogenetic Map2q34NCBI
Igsf3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543519,706,516 - 19,795,432 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543519,703,952 - 19,796,065 (-)NCBIChiLan1.0ChiLan1.0
IGSF3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11121,015,399 - 121,042,193 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0185,852,214 - 85,989,556 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
IGSF3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11754,015,154 - 54,106,219 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1754,017,456 - 54,106,535 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1753,662,244 - 53,754,007 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01754,896,430 - 54,988,067 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1754,897,791 - 54,988,038 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11753,933,532 - 54,025,256 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01753,969,554 - 54,061,345 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01754,543,101 - 54,634,597 (-)NCBIUU_Cfam_GSD_1.0
Igsf3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505812,662,249 - 12,751,349 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366271,737,337 - 1,826,757 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049366271,738,140 - 1,826,255 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IGSF3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4103,994,390 - 104,166,988 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14104,044,784 - 104,167,173 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24114,056,410 - 114,166,170 (+)NCBISscrofa10.2Sscrofa10.2susScr3
IGSF3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12017,054,915 - 17,149,119 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2017,055,617 - 17,149,166 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603819,746,069 - 19,840,214 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Igsf3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477212,263,123 - 12,354,321 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477212,263,495 - 12,354,379 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IGSF3
9 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3 copy number gain See cases [RCV000051827] Chr1:109756630..118650204 [GRCh38]
Chr1:110299252..119192827 [GRCh37]
Chr1:110100775..118994350 [NCBI36]
Chr1:1p13.3-12
pathogenic
GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3 copy number gain See cases [RCV000051831] Chr1:116059621..120130051 [GRCh38]
Chr1:116602242..120672637 [GRCh37]
Chr1:116403765..120474160 [NCBI36]
Chr1:1p13.1-12
pathogenic
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12
pathogenic
NM_001007237.3(IGSF3):c.2935del (p.Arg979fs) deletion Familial congenital nasolacrimal duct obstruction [RCV000149880] Chr1:116579791 [GRCh38]
Chr1:117122413 [GRCh37]
Chr1:1p13.1
pathogenic|not provided
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
GRCh37/hg19 1p13.2-12(chr1:114507501-120494232)x3 copy number gain See cases [RCV000449311] Chr1:114507501..120494232 [GRCh37]
Chr1:1p13.2-12
pathogenic
NM_001007237.3(IGSF3):c.1747C>T (p.Arg583Trp) single nucleotide variant not provided [RCV000423458] Chr1:116600223 [GRCh38]
Chr1:117142845 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001007237.3(IGSF3):c.2698G>A (p.Val900Met) single nucleotide variant not specified [RCV000455470] Chr1:116584795 [GRCh38]
Chr1:117127417 [GRCh37]
Chr1:1p13.1
benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2
pathogenic
GRCh37/hg19 1p13.1(chr1:117180331-117489298)x1 copy number loss not provided [RCV000684618] Chr1:117180331..117489298 [GRCh37]
Chr1:1p13.1
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_001007237.3(IGSF3):c.1841G>T (p.Arg614Leu) single nucleotide variant Esophageal atresia [RCV000984654] Chr1:116600129 [GRCh38]
Chr1:117142751 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001007237.3(IGSF3):c.1757C>T (p.Pro586Leu) single nucleotide variant not provided [RCV000896257] Chr1:116600213 [GRCh38]
Chr1:117142835 [GRCh37]
Chr1:1p13.1
likely benign
NM_001007237.3(IGSF3):c.930C>T (p.Pro310=) single nucleotide variant not provided [RCV000892014] Chr1:116608234 [GRCh38]
Chr1:117150856 [GRCh37]
Chr1:1p13.1
benign
NM_001007237.3(IGSF3):c.2550C>A (p.Leu850=) single nucleotide variant not provided [RCV000892013] Chr1:116584943 [GRCh38]
Chr1:117127565 [GRCh37]
Chr1:1p13.1
likely benign
NM_001007237.3(IGSF3):c.3060C>G (p.Asp1020Glu) single nucleotide variant not provided [RCV000948225] Chr1:116579666 [GRCh38]
Chr1:117122288 [GRCh37]
Chr1:1p13.1
benign
NM_001007237.3(IGSF3):c.868C>A (p.Arg290=) single nucleotide variant not provided [RCV000890749] Chr1:116608296 [GRCh38]
Chr1:117150918 [GRCh37]
Chr1:1p13.1
benign
NM_001007237.3(IGSF3):c.1724G>A (p.Trp575Ter) single nucleotide variant not provided [RCV001169932] Chr1:116600246 [GRCh38]
Chr1:117142868 [GRCh37]
Chr1:1p13.1
pathogenic
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) copy number loss Seizure [RCV001352640] Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12
pathogenic
GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783) copy number gain not specified [RCV002053602] Chr1:111647582..121343783 [GRCh37]
Chr1:1p13.3-11.2
pathogenic
NM_001007237.3(IGSF3):c.3063del (p.Asp1021fs) deletion not provided [RCV002224772] Chr1:116579663 [GRCh38]
Chr1:117122285 [GRCh37]
Chr1:1p13.1
likely pathogenic
NM_001007237.3(IGSF3):c.2179G>A (p.Gly727Ser) single nucleotide variant Myoepithelial tumor [RCV002463942] Chr1:116588955 [GRCh38]
Chr1:117131577 [GRCh37]
Chr1:1p13.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2925
Count of miRNA genes:985
Interacting mature miRNAs:1172
Transcripts:ENST00000318837, ENST00000369483, ENST00000369486, ENST00000481589
Prediction methods:Microtar, 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.

Markers in Region
RH44261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371117,117,147 - 117,117,303UniSTSGRCh37
Build 361116,918,670 - 116,918,826RGDNCBI36
Celera1115,345,662 - 115,345,818RGD
Cytogenetic Map1p13UniSTS
HuRef1114,976,746 - 114,976,902UniSTS
GeneMap99-GB4 RH Map1374.01UniSTS
G19973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371117,117,080 - 117,117,336UniSTSGRCh37
Build 361116,918,603 - 116,918,859RGDNCBI36
Celera1115,345,595 - 115,345,851RGD
Cytogenetic Map1p13UniSTS
HuRef1114,976,679 - 114,976,935UniSTS
A001Y14  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371117,117,080 - 117,117,336UniSTSGRCh37
Build 361116,918,603 - 116,918,859RGDNCBI36
Celera1115,345,595 - 115,345,851RGD
Cytogenetic Map1p13UniSTS
HuRef1114,976,679 - 114,976,935UniSTS
TNG Radiation Hybrid Map164084.0UniSTS
GeneMap99-GB4 RH Map1385.49UniSTS
NCBI RH Map1850.5UniSTS


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 523 103 388 169 212 61 1591 81 152 303 501 791 123 2 701 6
Low 1912 2087 1072 225 674 174 2212 1614 3363 114 916 819 52 1 1164 1568 2
Below cutoff 4 732 262 227 939 227 554 500 219 42 1 38 519

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_050917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001007237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005270794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB007935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF031174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI968231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU189125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000318837   ⟹   ENSP00000321184
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1116,577,220 - 116,666,431 (-)Ensembl
RefSeq Acc Id: ENST00000369483   ⟹   ENSP00000358495
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1116,574,399 - 116,667,755 (-)Ensembl
RefSeq Acc Id: ENST00000369486   ⟹   ENSP00000358498
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1116,574,408 - 116,667,733 (-)Ensembl
RefSeq Acc Id: ENST00000481589   ⟹   ENSP00000474657
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1116,616,264 - 116,646,945 (-)Ensembl
RefSeq Acc Id: NM_001007237   ⟹   NP_001007238
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381116,574,408 - 116,667,733 (-)NCBI
GRCh371117,117,020 - 117,210,377 (-)NCBI
Build 361116,918,554 - 117,011,837 (-)NCBI Archive
Celera1115,345,546 - 115,438,824 (-)RGD
HuRef1114,976,619 - 115,069,496 (-)NCBI
CHM1_11117,231,888 - 117,325,242 (-)NCBI
T2T-CHM13v2.01116,584,852 - 116,678,179 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001542   ⟹   NP_001533
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381116,574,398 - 116,667,755 (-)NCBI
GRCh371117,117,020 - 117,210,377 (-)NCBI
Build 361116,918,554 - 117,011,837 (-)NCBI Archive
Celera1115,345,546 - 115,438,824 (-)RGD
HuRef1114,976,619 - 115,069,496 (-)NCBI
CHM1_11117,231,888 - 117,324,443 (-)NCBI
T2T-CHM13v2.01116,584,842 - 116,678,201 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005270794   ⟹   XP_005270851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381116,574,398 - 116,617,308 (-)NCBI
GRCh371117,117,020 - 117,210,377 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006710593   ⟹   XP_006710656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381116,574,398 - 116,617,311 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541315   ⟹   XP_011539617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381116,574,398 - 116,667,468 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541316   ⟹   XP_011539618
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381116,574,398 - 116,603,586 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047419042   ⟹   XP_047274998
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381116,574,398 - 116,667,468 (-)NCBI
RefSeq Acc Id: XM_047419052   ⟹   XP_047275008
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381116,574,398 - 116,667,755 (-)NCBI
RefSeq Acc Id: XM_047419070   ⟹   XP_047275026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381116,574,398 - 116,667,468 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_001533   ⟸   NM_001542
- Peptide Label: isoform 1 precursor
- UniProtKB: O75054 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001007238   ⟸   NM_001007237
- Peptide Label: isoform 2 precursor
- UniProtKB: A6NMC7 (UniProtKB/Swiss-Prot),   O75054 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005270851   ⟸   XM_005270794
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006710656   ⟸   XM_006710593
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011539617   ⟸   XM_011541315
- Peptide Label: isoform X2
- UniProtKB: O75054 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011539618   ⟸   XM_011541316
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: ENSP00000474657   ⟸   ENST00000481589
RefSeq Acc Id: ENSP00000358498   ⟸   ENST00000369486
RefSeq Acc Id: ENSP00000358495   ⟸   ENST00000369483
RefSeq Acc Id: ENSP00000321184   ⟸   ENST00000318837
RefSeq Acc Id: XP_047275008   ⟸   XM_047419052
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047275026   ⟸   XM_047419070
- Peptide Label: isoform X5
- UniProtKB: A6NMC7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047274998   ⟸   XM_047419042
- Peptide Label: isoform X3
Protein Domains
Ig-like C2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75054-F1-model_v2 AlphaFold O75054 1-1194 view protein structure

Promoters
RGD ID:6856742
Promoter ID:EPDNEW_H1536
Type:initiation region
Name:IGSF3_1
Description:immunoglobulin superfamily member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1537  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381116,667,518 - 116,667,578EPDNEW
RGD ID:6856744
Promoter ID:EPDNEW_H1537
Type:initiation region
Name:IGSF3_2
Description:immunoglobulin superfamily member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1536  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381116,667,707 - 116,667,767EPDNEW
RGD ID:6785771
Promoter ID:HG_KWN:4312
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_001542,   OTTHUMT00000059040
Position:
Human AssemblyChrPosition (strand)Source
Build 361117,011,589 - 117,012,089 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5950 AgrOrtholog
COSMIC IGSF3 COSMIC
Ensembl Genes ENSG00000143061 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000321184 ENTREZGENE
  ENSP00000321184.6 UniProtKB/Swiss-Prot
  ENSP00000358495 ENTREZGENE
  ENSP00000358495.1 UniProtKB/Swiss-Prot
  ENSP00000358498 ENTREZGENE
  ENSP00000358498.4 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000318837 ENTREZGENE
  ENST00000318837.6 UniProtKB/Swiss-Prot
  ENST00000369483 ENTREZGENE
  ENST00000369483.5 UniProtKB/Swiss-Prot
  ENST00000369486 ENTREZGENE
  ENST00000369486.8 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000143061 GTEx
HGNC ID HGNC:5950 ENTREZGENE
Human Proteome Map IGSF3 Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot
  Ig-like_dom_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  Ig_sub UniProtKB/Swiss-Prot
  Ig_sub2 UniProtKB/Swiss-Prot
  Ig_V-set UniProtKB/Swiss-Prot
KEGG Report hsa:3321 UniProtKB/Swiss-Prot
NCBI Gene 3321 ENTREZGENE
OMIM 149700 OMIM
  603491 OMIM
Pfam V-set UniProtKB/Swiss-Prot
PharmGKB PA29763 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot
SMART IGc2 UniProtKB/Swiss-Prot
  IGv UniProtKB/Swiss-Prot
  SM00409 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot
UniProt A6NMC7 ENTREZGENE
  IGSF3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A6NJZ6 UniProtKB/Swiss-Prot
  A6NMC7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 IGSF3  immunoglobulin superfamily member 3    immunoglobulin superfamily, member 3  Symbol and/or name change 5135510 APPROVED