IGSF22 (immunoglobulin superfamily member 22) - Rat Genome Database

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Gene: IGSF22 (immunoglobulin superfamily member 22) Homo sapiens
Analyze
Symbol: IGSF22
Name: immunoglobulin superfamily member 22
RGD ID: 1601807
HGNC Page HGNC:26750
Description: ASSOCIATED WITH genetic disease; hypertrophic cardiomyopathy 12; Intellectual disability; INTERACTS WITH benzo[a]pyrene; bis(2-ethylhexyl) phthalate; lead(0)
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ37794; IGFN2; immunoglobulin superfamily, member 22
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381118,704,312 - 18,726,188 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1118,704,312 - 18,726,230 (-)EnsemblGRCh38hg38GRCh38
GRCh371118,725,859 - 18,747,735 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361118,682,428 - 18,704,353 (-)NCBINCBI36Build 36hg18NCBI36
Celera1118,861,714 - 18,883,614 (-)NCBICelera
Cytogenetic Map11p15.1NCBI
HuRef1118,410,773 - 18,432,632 (-)NCBIHuRef
CHM1_11118,725,189 - 18,747,114 (-)NCBICHM1_1
T2T-CHM13v2.01118,802,367 - 18,824,226 (-)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
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# 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
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:16344560   PMID:21873635  


Genomics

Comparative Map Data
IGSF22
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381118,704,312 - 18,726,188 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1118,704,312 - 18,726,230 (-)EnsemblGRCh38hg38GRCh38
GRCh371118,725,859 - 18,747,735 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361118,682,428 - 18,704,353 (-)NCBINCBI36Build 36hg18NCBI36
Celera1118,861,714 - 18,883,614 (-)NCBICelera
Cytogenetic Map11p15.1NCBI
HuRef1118,410,773 - 18,432,632 (-)NCBIHuRef
CHM1_11118,725,189 - 18,747,114 (-)NCBICHM1_1
T2T-CHM13v2.01118,802,367 - 18,824,226 (-)NCBIT2T-CHM13v2.0
LOC102637012
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39746,709,799 - 46,724,467 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl746,707,101 - 46,724,435 (-)EnsemblGRCm39 Ensembl
GRCm38747,060,051 - 47,074,719 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl747,057,353 - 47,074,687 (-)EnsemblGRCm38mm10GRCm38
Celera742,536,579 - 42,557,900 (-)NCBICelera
Cytogenetic Map7B3NCBI
Igsf22
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81106,738,196 - 106,754,732 (-)NCBIGRCr8
mRatBN7.2197,601,938 - 97,618,144 (-)NCBImRatBN7.2mRatBN7.2
Rnor_6.01103,178,310 - 103,195,425 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Celera191,846,188 - 91,862,628 (-)NCBICelera
Cytogenetic Map1q22NCBI
Igsf22
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541433,364,637 - 33,378,363 (-)NCBIChiLan1.0ChiLan1.0
IGSF22
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2921,013,729 - 21,037,372 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11120,972,127 - 20,997,776 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01118,734,271 - 18,757,370 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11118,648,773 - 18,668,745 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1118,648,773 - 18,668,678 (-)Ensemblpanpan1.1panPan2
IGSF22
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12141,075,609 - 41,094,302 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2141,076,047 - 41,094,302 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2140,554,896 - 40,575,254 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02142,199,074 - 42,219,424 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2142,199,074 - 42,217,422 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12141,202,160 - 41,222,637 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02141,379,260 - 41,399,782 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02141,756,907 - 41,777,290 (-)NCBIUU_Cfam_GSD_1.0
Igsf22
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494744,554,022 - 44,574,875 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936528588,487 - 608,855 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IGSF22
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1240,524,004 - 40,544,231 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2243,533,240 - 43,553,727 (+)NCBISscrofa10.2Sscrofa10.2susScr3
IGSF22
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1146,201,214 - 46,222,115 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl146,201,855 - 46,225,533 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038143,543,166 - 143,563,422 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Igsf22
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476610,126,121 - 10,147,727 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IGSF22
60 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1 copy number loss See cases [RCV000052646] Chr11:17905089..19674505 [GRCh38]
Chr11:17926636..19696051 [GRCh37]
Chr11:17883212..19652627 [NCBI36]
Chr11:11p15.1		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
NM_153347.2(TMEM86A):c.357G>A (p.Arg119=) single nucleotide variant Malignant melanoma [RCV000069286] Chr11:18701643 [GRCh38]
Chr11:18723190 [GRCh37]
Chr11:18679766 [NCBI36]
Chr11:11p15.1		 not provided
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
GRCh38/hg38 11p15.1(chr11:18526222-20748125)x3 copy number gain See cases [RCV000134932] Chr11:18526222..20748125 [GRCh38]
Chr11:18547769..20769671 [GRCh37]
Chr11:18504345..20726247 [NCBI36]
Chr11:11p15.1		 uncertain significance
GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1 copy number loss Aniridia 1 [RCV000420782] Chr11:18536224..31923308 [GRCh37]
Chr11:11p15.1-13		 pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 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_173588.4(IGSF22):c.2134G>A (p.Glu712Lys) single nucleotide variant Inborn genetic diseases [RCV003273293] Chr11:18712346 [GRCh38]
Chr11:18733893 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.2408G>A (p.Gly803Asp) single nucleotide variant Inborn genetic diseases [RCV003266976] Chr11:18710819 [GRCh38]
Chr11:18732366 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 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
NM_173588.4(IGSF22):c.1240= (p.Val414=) variation not provided [RCV000948862] Chr11:18716734 [GRCh38]
Chr11:18738281 [GRCh37]
Chr11:11p15.1		 benign
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_173588.4(IGSF22):c.41T>C (p.Val14Ala) single nucleotide variant Inborn genetic diseases [RCV003291012] Chr11:18724196 [GRCh38]
Chr11:18745743 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.1189G>A (p.Gly397Ser) single nucleotide variant Inborn genetic diseases [RCV003290390] Chr11:18716785 [GRCh38]
Chr11:18738332 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3 copy number gain not provided [RCV001006388] Chr11:13970757..27565888 [GRCh37]
Chr11:11p15.2-14.1		 pathogenic
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3 copy number gain not provided [RCV001006387] Chr11:11053978..34732891 [GRCh37]
Chr11:11p15.3-13		 pathogenic
NC_000011.9:g.(?_17552691)_(19213995_?)dup duplication Progressive myoclonic epilepsy type 7 [RCV001295201] Chr11:17552691..19213995 [GRCh37]
Chr11:11p15.1		 uncertain significance
NC_000011.9:g.(?_18420958)_(19213995_?)dup duplication Hypertrophic cardiomyopathy 12 [RCV001896615] Chr11:18420958..19213995 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh37/hg19 11p15.1(chr11:18482438-18792764) copy number loss not specified [RCV002052915] Chr11:18482438..18792764 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.3482C>G (p.Pro1161Arg) single nucleotide variant not provided [RCV002223408] Chr11:18707012 [GRCh38]
Chr11:18728559 [GRCh37]
Chr11:11p15.1		 uncertain significance
NC_000011.9:g.(?_18418390)_(19204313_?)del deletion Hypertrophic cardiomyopathy 12 [RCV003113264] Chr11:18418390..19204313 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
NM_173588.4(IGSF22):c.208G>T (p.Val70Leu) single nucleotide variant Inborn genetic diseases [RCV003257771] Chr11:18721943 [GRCh38]
Chr11:18743490 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh37/hg19 11p15.1(chr11:17784556-18797650)x3 copy number gain not provided [RCV002474599] Chr11:17784556..18797650 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.2323C>T (p.Arg775Cys) single nucleotide variant Inborn genetic diseases [RCV002752143] Chr11:18712157 [GRCh38]
Chr11:18733704 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.1303C>T (p.Arg435Cys) single nucleotide variant Inborn genetic diseases [RCV002945777] Chr11:18715660 [GRCh38]
Chr11:18737207 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.3005C>A (p.Pro1002His) single nucleotide variant Inborn genetic diseases [RCV002973287] Chr11:18708289 [GRCh38]
Chr11:18729836 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.3296C>G (p.Pro1099Arg) single nucleotide variant Inborn genetic diseases [RCV002859083] Chr11:18707198 [GRCh38]
Chr11:18728745 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.1957C>T (p.Arg653Cys) single nucleotide variant Inborn genetic diseases [RCV002684719] Chr11:18713990 [GRCh38]
Chr11:18735537 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.1310G>A (p.Cys437Tyr) single nucleotide variant Inborn genetic diseases [RCV002779106] Chr11:18715653 [GRCh38]
Chr11:18737200 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.3275T>C (p.Val1092Ala) single nucleotide variant Inborn genetic diseases [RCV002684606] Chr11:18707809 [GRCh38]
Chr11:18729356 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.1049G>T (p.Arg350Leu) single nucleotide variant Inborn genetic diseases [RCV002992816] Chr11:18716925 [GRCh38]
Chr11:18738472 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.2023A>C (p.Ser675Arg) single nucleotide variant Inborn genetic diseases [RCV002974012] Chr11:18713924 [GRCh38]
Chr11:18735471 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.1535G>A (p.Arg512His) single nucleotide variant Inborn genetic diseases [RCV002990653] Chr11:18714621 [GRCh38]
Chr11:18736168 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.103G>A (p.Val35Met) single nucleotide variant Inborn genetic diseases [RCV002945286] Chr11:18724134 [GRCh38]
Chr11:18745681 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.1975G>A (p.Gly659Arg) single nucleotide variant Inborn genetic diseases [RCV003001374] Chr11:18713972 [GRCh38]
Chr11:18735519 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.1889C>T (p.Pro630Leu) single nucleotide variant Inborn genetic diseases [RCV002977540] Chr11:18714058 [GRCh38]
Chr11:18735605 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.802T>C (p.Trp268Arg) single nucleotide variant Inborn genetic diseases [RCV002868416] Chr11:18718623 [GRCh38]
Chr11:18740170 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.544C>G (p.Gln182Glu) single nucleotide variant Inborn genetic diseases [RCV002868977] Chr11:18719868 [GRCh38]
Chr11:18741415 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.2117G>T (p.Gly706Val) single nucleotide variant Inborn genetic diseases [RCV002757414] Chr11:18712363 [GRCh38]
Chr11:18733910 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.1148C>T (p.Thr383Met) single nucleotide variant Inborn genetic diseases [RCV002950988] Chr11:18716826 [GRCh38]
Chr11:18738373 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.1894C>T (p.Arg632Trp) single nucleotide variant Inborn genetic diseases [RCV002742394] Chr11:18714053 [GRCh38]
Chr11:18735600 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.2980C>T (p.Arg994Cys) single nucleotide variant Inborn genetic diseases [RCV002955007] Chr11:18709405 [GRCh38]
Chr11:18730952 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.3774G>C (p.Lys1258Asn) single nucleotide variant Inborn genetic diseases [RCV002708726] Chr11:18705953 [GRCh38]
Chr11:18727500 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.3742A>G (p.Lys1248Glu) single nucleotide variant Inborn genetic diseases [RCV002708480] Chr11:18705985 [GRCh38]
Chr11:18727532 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.3050G>A (p.Arg1017His) single nucleotide variant Inborn genetic diseases [RCV002744205] Chr11:18708244 [GRCh38]
Chr11:18729791 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.2348G>T (p.Gly783Val) single nucleotide variant Inborn genetic diseases [RCV002940695] Chr11:18712132 [GRCh38]
Chr11:18733679 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.2881A>G (p.Thr961Ala) single nucleotide variant Inborn genetic diseases [RCV002813552] Chr11:18709504 [GRCh38]
Chr11:18731051 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.1751C>T (p.Thr584Ile) single nucleotide variant Inborn genetic diseases [RCV002940748] Chr11:18714324 [GRCh38]
Chr11:18735871 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.1564G>A (p.Asp522Asn) single nucleotide variant Inborn genetic diseases [RCV002792907] Chr11:18714592 [GRCh38]
Chr11:18736139 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.2099G>A (p.Arg700His) single nucleotide variant Inborn genetic diseases [RCV002703379] Chr11:18712381 [GRCh38]
Chr11:18733928 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.1888C>T (p.Pro630Ser) single nucleotide variant Inborn genetic diseases [RCV002935164] Chr11:18714059 [GRCh38]
Chr11:18735606 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.2440A>C (p.Thr814Pro) single nucleotide variant Inborn genetic diseases [RCV002747430] Chr11:18710787 [GRCh38]
Chr11:18732334 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.3526G>A (p.Gly1176Ser) single nucleotide variant Inborn genetic diseases [RCV002813054] Chr11:18706968 [GRCh38]
Chr11:18728515 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.2591A>T (p.Asp864Val) single nucleotide variant Inborn genetic diseases [RCV002673059] Chr11:18710437 [GRCh38]
Chr11:18731984 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.2510T>C (p.Ile837Thr) single nucleotide variant Inborn genetic diseases [RCV003201140] Chr11:18710717 [GRCh38]
Chr11:18732264 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.2950G>C (p.Gly984Arg) single nucleotide variant Inborn genetic diseases [RCV003213570] Chr11:18709435 [GRCh38]
Chr11:18730982 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.3494A>G (p.Tyr1165Cys) single nucleotide variant Inborn genetic diseases [RCV003196740] Chr11:18707000 [GRCh38]
Chr11:18728547 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.853G>T (p.Asp285Tyr) single nucleotide variant Inborn genetic diseases [RCV003287175] Chr11:18718051 [GRCh38]
Chr11:18739598 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.1846G>A (p.Ala616Thr) single nucleotide variant Inborn genetic diseases [RCV003194376] Chr11:18714101 [GRCh38]
Chr11:18735648 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.881T>C (p.Met294Thr) single nucleotide variant Inborn genetic diseases [RCV003179355] Chr11:18718023 [GRCh38]
Chr11:18739570 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.3199C>T (p.Arg1067Cys) single nucleotide variant Inborn genetic diseases [RCV003186111] Chr11:18707885 [GRCh38]
Chr11:18729432 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.2280C>A (p.Asn760Lys) single nucleotide variant Inborn genetic diseases [RCV003189267] Chr11:18712200 [GRCh38]
Chr11:18733747 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.3138G>C (p.Lys1046Asn) single nucleotide variant Inborn genetic diseases [RCV003172772] Chr11:18707946 [GRCh38]
Chr11:18729493 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.3230T>G (p.Leu1077Arg) single nucleotide variant Inborn genetic diseases [RCV003209427] Chr11:18707854 [GRCh38]
Chr11:18729401 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.1885G>T (p.Val629Phe) single nucleotide variant Inborn genetic diseases [RCV003305321] Chr11:18714062 [GRCh38]
Chr11:18735609 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.2948T>A (p.Val983Asp) single nucleotide variant Inborn genetic diseases [RCV003356997] Chr11:18709437 [GRCh38]
Chr11:18730984 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.1618G>A (p.Glu540Lys) single nucleotide variant Inborn genetic diseases [RCV003342272] Chr11:18714538 [GRCh38]
Chr11:18736085 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.2474C>T (p.Pro825Leu) single nucleotide variant Inborn genetic diseases [RCV003345848] Chr11:18710753 [GRCh38]
Chr11:18732300 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.2609C>T (p.Thr870Ile) single nucleotide variant Inborn genetic diseases [RCV003344831] Chr11:18710419 [GRCh38]
Chr11:18731966 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.1564G>C (p.Asp522His) single nucleotide variant Inborn genetic diseases [RCV003363226] Chr11:18714592 [GRCh38]
Chr11:18736139 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.811G>A (p.Gly271Ser) single nucleotide variant Inborn genetic diseases [RCV003383543] Chr11:18718093 [GRCh38]
Chr11:18739640 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.3041T>C (p.Met1014Thr) single nucleotide variant Inborn genetic diseases [RCV003370945] Chr11:18708253 [GRCh38]
Chr11:18729800 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.3946G>A (p.Glu1316Lys) single nucleotide variant Inborn genetic diseases [RCV003375978] Chr11:18704503 [GRCh38]
Chr11:18726050 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.585G>T (p.Leu195Phe) single nucleotide variant Inborn genetic diseases [RCV003347733] Chr11:18719827 [GRCh38]
Chr11:18741374 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.2486G>A (p.Gly829Glu) single nucleotide variant Inborn genetic diseases [RCV003369663] Chr11:18710741 [GRCh38]
Chr11:18732288 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_173588.4(IGSF22):c.79A>G (p.Thr27Ala) single nucleotide variant not provided [RCV003397974] Chr11:18724158 [GRCh38]
Chr11:18745705 [GRCh37]
Chr11:11p15.1		 likely benign
NM_173588.4(IGSF22):c.3448_3450del (p.Phe1150del) deletion not provided [RCV003409282] Chr11:18707044..18707046 [GRCh38]
Chr11:18728591..18728593 [GRCh37]
Chr11:11p15.1		 likely benign
NM_173588.4(IGSF22):c.3143G>A (p.Arg1048Gln) single nucleotide variant not provided [RCV003409283] Chr11:18707941 [GRCh38]
Chr11:18729488 [GRCh37]
Chr11:11p15.1		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1501
Count of miRNA genes:767
Interacting mature miRNAs:907
Transcripts:ENST00000319338, ENST00000412229, ENST00000504981, ENST00000510673, ENST00000513874
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.

Markers in Region
A004A23  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,749,539 - 18,749,755UniSTSGRCh37
Build 361118,706,115 - 18,706,331RGDNCBI36
Celera1118,885,376 - 18,885,592RGD
Cytogenetic Map11p15.1UniSTS
HuRef1118,434,394 - 18,434,610UniSTS
GeneMap99-GB4 RH Map1167.0UniSTS
SHGC-146649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,736,649 - 18,736,966UniSTSGRCh37
Build 361118,693,225 - 18,693,542RGDNCBI36
Celera1118,872,485 - 18,872,802RGD
Cytogenetic Map11p15.1UniSTS
HuRef1118,421,503 - 18,421,820UniSTS
TNG Radiation Hybrid Map119098.0UniSTS
RH11974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,749,552 - 18,749,684UniSTSGRCh37
Build 361118,706,128 - 18,706,260RGDNCBI36
Celera1118,885,389 - 18,885,521RGD
Cytogenetic Map11p15.1UniSTS
HuRef1118,434,407 - 18,434,539UniSTS
GeneMap99-GB4 RH Map1169.29UniSTS
SHGC-32421  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,749,508 - 18,749,638UniSTSGRCh37
Build 361118,706,084 - 18,706,214RGDNCBI36
Celera1118,885,345 - 18,885,475RGD
Cytogenetic Map11p15.1UniSTS
HuRef1118,434,363 - 18,434,493UniSTS
Whitehead-RH Map1160.3UniSTS
GeneMap99-G3 RH Map11870.0UniSTS


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 adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1 4 5 1 1 4 1
Low 448 433 1043 108 492 33 1990 313 2437 272 1087 1167 78 217 1174 1
Below cutoff 1942 2523 652 493 1278 410 2321 1836 1240 114 305 373 91 987 1607 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_173588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA255875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC103974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI952274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC115396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC115397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA338373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000319338   ⟹   ENSP00000322422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,704,312 - 18,726,230 (-)Ensembl
RefSeq Acc Id: ENST00000412229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,721,802 - 18,726,174 (-)Ensembl
RefSeq Acc Id: ENST00000504981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,707,041 - 18,726,181 (-)Ensembl
RefSeq Acc Id: ENST00000510673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,705,418 - 18,706,129 (-)Ensembl
RefSeq Acc Id: ENST00000513874   ⟹   ENSP00000421191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,704,312 - 18,726,188 (-)Ensembl
RefSeq Acc Id: NM_173588   ⟹   NP_775859
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,704,312 - 18,726,188 (-)NCBI
GRCh371118,725,852 - 18,747,777 (-)RGD
Build 361118,682,428 - 18,704,353 (-)NCBI Archive
Celera1118,861,714 - 18,883,614 (-)RGD
HuRef1118,410,773 - 18,432,632 (-)ENTREZGENE
CHM1_11118,725,189 - 18,747,114 (-)NCBI
T2T-CHM13v2.01118,802,374 - 18,824,226 (-)NCBI
Sequence:
RefSeq Acc Id: NR_160413
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,704,312 - 18,726,188 (-)NCBI
T2T-CHM13v2.01118,802,374 - 18,824,226 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047426830   ⟹   XP_047282786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,704,312 - 18,714,468 (-)NCBI
RefSeq Acc Id: XM_054368545   ⟹   XP_054224520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01118,802,367 - 18,812,525 (-)NCBI
Protein Sequences
Protein RefSeqs NP_775859 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282786 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224520 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI15398 (Get FASTA)   NCBI Sequence Viewer  
  BAC04488 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000322422.6
  ENSP00000421191
  ENSP00000421191.1
GenBank Protein Q8N9C0 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_775859   ⟸   NM_173588
- Sequence:
RefSeq Acc Id: ENSP00000421191   ⟸   ENST00000513874
RefSeq Acc Id: ENSP00000322422   ⟸   ENST00000319338
RefSeq Acc Id: XP_047282786   ⟸   XM_047426830
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054224520   ⟸   XM_054368545
- Peptide Label: isoform X1
Protein Domains
Fibronectin type-III   Ig-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N9C0-F1-model_v2 AlphaFold Q8N9C0 1-903 view protein structure

Promoters
RGD ID:6810191
Promoter ID:HG_ACW:11332
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:IGSF22.CAPR07,   TMEM86A.FAPR07,   TMEM86A.GAPR07,   TMEM86A.HAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361118,684,216 - 18,685,167 (+)MPROMDB
RGD ID:7219817
Promoter ID:EPDNEW_H15654
Type:initiation region
Name:IGSF22_1
Description:immunoglobulin superfamily member 22
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,726,188 - 18,726,248EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26750 AgrOrtholog
COSMIC IGSF22 COSMIC
Ensembl Genes ENSG00000179057 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000319338 ENTREZGENE
  ENST00000319338.6 UniProtKB/Swiss-Prot
  ENST00000513874 ENTREZGENE
  ENST00000513874.6 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000179057 GTEx
HGNC ID HGNC:26750 ENTREZGENE
Human Proteome Map IGSF22 Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot
  FN3_sf UniProtKB/Swiss-Prot
  Ig-like_dom UniProtKB/Swiss-Prot
  Ig-like_dom_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  Ig_I-set UniProtKB/Swiss-Prot
  Ig_sub UniProtKB/Swiss-Prot
  Ig_sub2 UniProtKB/Swiss-Prot
  MyBP-C_THB UniProtKB/Swiss-Prot
KEGG Report hsa:283284 UniProtKB/Swiss-Prot
NCBI Gene 283284 ENTREZGENE
PANTHER IMMUNOGLOBULIN SUPERFAMILY MEMBER 22 UniProtKB/Swiss-Prot
  TITIN UniProtKB/Swiss-Prot
Pfam fn3 UniProtKB/Swiss-Prot
  I-set UniProtKB/Swiss-Prot
  THB UniProtKB/Swiss-Prot
PharmGKB PA142671662 PharmGKB
PRINTS FNTYPEIII UniProtKB/Swiss-Prot
PROSITE FN3 UniProtKB/Swiss-Prot
  IG_LIKE UniProtKB/Swiss-Prot
SMART FN3 UniProtKB/Swiss-Prot
  IGc2 UniProtKB/Swiss-Prot
  SM00409 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot
  SSF49265 UniProtKB/Swiss-Prot
UniProt IGS22_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A6NNA0 UniProtKB/Swiss-Prot
  D6RGV7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 IGSF22  immunoglobulin superfamily member 22    immunoglobulin superfamily, member 22  Symbol and/or name change 5135510 APPROVED