SGSM2 (small G protein signaling modulator 2) - Rat Genome Database

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Gene: SGSM2 (small G protein signaling modulator 2) Homo sapiens
Analyze
Symbol: SGSM2
Name: small G protein signaling modulator 2
RGD ID: 1315867
HGNC Page HGNC:29026
Description: Enables GTPase activator activity and small GTPase binding activity. Involved in late endosome to Golgi transport and positive regulation of GTPase activity. Located in melanosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: KIAA0397; RUN and TBC1 domain containing 1; RUN and TBC1 domain-containing protein 1; RUTBC1; small G protein signaling modulator 2 protein
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
GRCh38172,337,501 - 2,381,054 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl172,337,498 - 2,381,058 (+)EnsemblGRCh38hg38GRCh38
GRCh37172,240,795 - 2,284,348 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36172,187,556 - 2,231,098 (+)NCBINCBI36Build 36hg18NCBI36
Celera172,256,908 - 2,300,461 (+)NCBICelera
Cytogenetic Map17p13.3NCBI
HuRef172,135,506 - 2,177,896 (+)NCBIHuRef
CHM1_1172,249,759 - 2,291,729 (+)NCBICHM1_1
T2T-CHM13v2.0172,224,838 - 2,269,747 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IDA,IEA)
cytoplasmic vesicle  (IEA)
melanosome  (IDA,IEA)

Molecular Function

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
3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:9455477   PMID:16169070   PMID:17509819   PMID:19077034   PMID:19584346   PMID:21808068   PMID:21873549   PMID:21873635   PMID:22199357   PMID:25056061   PMID:26620560   PMID:28514442  
PMID:28611215   PMID:29499938   PMID:30489189   PMID:30744493   PMID:33961781   PMID:35264562   PMID:35748872   PMID:35914814  


Genomics

Comparative Map Data
SGSM2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38172,337,501 - 2,381,054 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl172,337,498 - 2,381,058 (+)EnsemblGRCh38hg38GRCh38
GRCh37172,240,795 - 2,284,348 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36172,187,556 - 2,231,098 (+)NCBINCBI36Build 36hg18NCBI36
Celera172,256,908 - 2,300,461 (+)NCBICelera
Cytogenetic Map17p13.3NCBI
HuRef172,135,506 - 2,177,896 (+)NCBIHuRef
CHM1_1172,249,759 - 2,291,729 (+)NCBICHM1_1
T2T-CHM13v2.0172,224,838 - 2,269,747 (+)NCBIT2T-CHM13v2.0
Sgsm2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391174,740,088 - 74,787,929 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1174,740,087 - 74,787,886 (-)EnsemblGRCm39 Ensembl
GRCm381174,849,262 - 74,897,211 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1174,849,261 - 74,897,060 (-)EnsemblGRCm38mm10GRCm38
MGSCv371174,662,766 - 74,710,582 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361174,665,459 - 74,713,266 (-)NCBIMGSCv36mm8
Celera1182,362,302 - 82,403,240 (-)NCBICelera
Cytogenetic Map11B5NCBI
cM Map1145.76NCBI
Sgsm2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81060,216,556 - 60,258,199 (-)NCBIGRCr8
mRatBN7.21059,718,180 - 59,759,822 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1059,718,183 - 59,759,447 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1064,364,602 - 64,405,954 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01063,870,189 - 63,911,542 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01059,332,564 - 59,373,926 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01061,703,837 - 61,745,110 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1061,703,839 - 61,745,097 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01061,425,573 - 61,467,056 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41062,165,180 - 62,206,440 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11062,180,270 - 62,220,052 (-)NCBI
Celera1058,748,712 - 58,790,016 (-)NCBICelera
Cytogenetic Map10q24NCBI
Sgsm2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955481871,654 - 907,326 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955481871,719 - 907,326 (-)NCBIChiLan1.0ChiLan1.0
SGSM2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2199,918,056 - 9,961,833 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11711,885,374 - 11,929,243 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0172,328,517 - 2,372,408 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1172,213,183 - 2,256,638 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl172,213,192 - 2,256,638 (+)Ensemblpanpan1.1panPan2
SGSM2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1946,405,890 - 46,464,586 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl946,415,801 - 46,477,524 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha945,581,063 - 45,616,639 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0947,262,291 - 47,297,874 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl947,237,076 - 47,297,874 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1946,029,217 - 46,064,789 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0946,323,745 - 46,359,284 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0946,379,012 - 46,414,591 (+)NCBIUU_Cfam_GSD_1.0
Sgsm2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560245,517,957 - 45,558,671 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365388,395,915 - 8,436,655 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365388,395,902 - 8,436,616 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SGSM2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1248,416,790 - 48,462,846 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11248,416,774 - 48,462,851 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SGSM2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1161,970,412 - 2,012,417 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl161,970,456 - 2,014,384 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605919,949,600 - 19,992,896 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sgsm2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247864,999,951 - 5,036,771 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247864,999,883 - 5,045,208 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SGSM2
104 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.3(chr17:198748-3102332)x1 copy number loss See cases [RCV000050936] Chr17:198748..3102332 [GRCh38]
Chr17:50690..3005626 [GRCh37]
Chr17:48539..2952376 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:436763-2527511)x3 copy number gain See cases [RCV000052432] Chr17:436763..2527511 [GRCh38]
Chr17:396627..2430805 [GRCh37]
Chr17:286785..2377555 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:445331-2385512)x3 copy number gain See cases [RCV000052434] Chr17:445331..2385512 [GRCh38]
Chr17:396627..2288806 [GRCh37]
Chr17:295350..2235556 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3 copy number gain See cases [RCV000052448] Chr17:1287199..3154232 [GRCh38]
Chr17:1190493..3057526 [GRCh37]
Chr17:1137243..3004276 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3 copy number gain See cases [RCV000052456] Chr17:2357067..4328426 [GRCh38]
Chr17:2260361..4231721 [GRCh37]
Chr17:2207111..4178470 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3(chr17:234496-2385512)x3 copy number gain See cases [RCV000052429] Chr17:234496..2385512 [GRCh38]
Chr17:396627..2288806 [GRCh37]
Chr17:84287..2235556 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 copy number loss See cases [RCV000053384] Chr17:193307..5652222 [GRCh38]
Chr17:45835..5555542 [GRCh37]
Chr17:43098..5496266 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-3436345)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053386]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053386]|See cases [RCV000053386] Chr17:198748..3436345 [GRCh38]
Chr17:50690..3339639 [GRCh37]
Chr17:48539..3286389 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
NM_001098509.1(SGSM2):c.726T>G (p.Cys242Trp) single nucleotide variant Malignant melanoma [RCV000071372] Chr17:2363518 [GRCh38]
Chr17:2266812 [GRCh37]
Chr17:2213562 [NCBI36]
Chr17:17p13.3
not provided
NM_001098509.1(SGSM2):c.1201C>T (p.Arg401Cys) single nucleotide variant Malignant melanoma [RCV000071373] Chr17:2365254 [GRCh38]
Chr17:2268548 [GRCh37]
Chr17:2215298 [NCBI36]
Chr17:17p13.3
not provided
GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1 copy number loss See cases [RCV000133721] Chr17:2062380..5258340 [GRCh38]
Chr17:1965674..5161635 [GRCh37]
Chr17:1912424..5102359 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 copy number loss See cases [RCV000134135] Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3(chr17:198748-2685361)x1 copy number loss See cases [RCV000134971] Chr17:198748..2685361 [GRCh38]
Chr17:50690..2588655 [GRCh37]
Chr17:48539..2535405 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1 copy number loss See cases [RCV000135857] Chr17:226472..3655099 [GRCh38]
Chr17:396627..3558393 [GRCh37]
Chr17:76263..3505142 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3(chr17:2254635-2699329)x3 copy number gain See cases [RCV000136987] Chr17:2254635..2699329 [GRCh38]
Chr17:2157929..2602623 [GRCh37]
Chr17:2104679..2549373 [NCBI36]
Chr17:17p13.3
uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3 copy number gain See cases [RCV000137603] Chr17:1348488..3513273 [GRCh38]
Chr17:1251782..3416567 [GRCh37]
Chr17:1198532..3363317 [NCBI36]
Chr17:17p13.3-13.2
likely pathogenic
GRCh38/hg38 17p13.3(chr17:2261727-2502345)x1 copy number loss See cases [RCV000138057] Chr17:2261727..2502345 [GRCh38]
Chr17:2165021..2405639 [GRCh37]
Chr17:2111771..2352389 [NCBI36]
Chr17:17p13.3
likely benign
GRCh38/hg38 17p13.3(chr17:1742705-2952264)x1 copy number loss See cases [RCV000138203] Chr17:1742705..2952264 [GRCh38]
Chr17:1645999..2855558 [GRCh37]
Chr17:1592749..2802308 [NCBI36]
Chr17:17p13.3
pathogenic|likely benign
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.3(chr17:2012699-2644858)x1 copy number loss See cases [RCV000138311] Chr17:2012699..2644858 [GRCh38]
Chr17:1915993..2548152 [GRCh37]
Chr17:1862743..2494902 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:1808796-2403389)x3 copy number gain See cases [RCV000139433] Chr17:1808796..2403389 [GRCh38]
Chr17:1712090..2306683 [GRCh37]
Chr17:1658840..2253433 [NCBI36]
Chr17:17p13.3
pathogenic|uncertain significance
GRCh38/hg38 17p13.3(chr17:2298292-2728190)x1 copy number loss See cases [RCV000139972] Chr17:2298292..2728190 [GRCh38]
Chr17:2201586..2631484 [GRCh37]
Chr17:2148336..2578234 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3 copy number gain See cases [RCV000139738] Chr17:2062429..4141883 [GRCh38]
Chr17:1965723..4045177 [GRCh37]
Chr17:1912473..3991926 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 copy number loss See cases [RCV000141658] Chr17:150732..5935377 [GRCh38]
Chr17:525..5838697 [GRCh37]
Chr17:525..5779421 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1 copy number loss See cases [RCV000141559] Chr17:237248..4735533 [GRCh38]
Chr17:396627..4638828 [GRCh37]
Chr17:87039..4585577 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3(chr17:150732-3242868)x1 copy number loss See cases [RCV000142323] Chr17:150732..3242868 [GRCh38]
Chr17:525..3146162 [GRCh37]
Chr17:525..3092912 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1 copy number loss See cases [RCV000142440] Chr17:198748..4265640 [GRCh38]
Chr17:50690..4168935 [GRCh37]
Chr17:48539..4115684 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3 copy number gain See cases [RCV000240175] Chr17:919381..4046915 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_014853.3(SGSM2):c.1696G>A (p.Val566Met) single nucleotide variant Malignant tumor of prostate [RCV000205964] Chr17:2372396 [GRCh38]
Chr17:2275690 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:1218064-2619473)x1 copy number loss See cases [RCV000240453] Chr17:1218064..2619473 [GRCh37]
Chr17:17p13.3
pathogenic
NM_014853.3(SGSM2):c.770G>A (p.Arg257Gln) single nucleotide variant not specified [RCV004296308] Chr17:2363562 [GRCh38]
Chr17:2266856 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:48858-2940028)x1 copy number loss See cases [RCV000449220] Chr17:48858..2940028 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:874171-2306440)x3 copy number gain See cases [RCV000447467] Chr17:874171..2306440 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2518160)x1 copy number loss See cases [RCV000446045] Chr17:525..2518160 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1936753-2901448)x1 copy number loss See cases [RCV000446462] Chr17:1936753..2901448 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1791849-2455613)x3 copy number gain See cases [RCV000446687] Chr17:1791849..2455613 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:1751557-5378509)x1 copy number loss See cases [RCV000445994] Chr17:1751557..5378509 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) copy number gain See cases [RCV000445679] Chr17:1113102..6742486 [GRCh37]
Chr17:17p13.3-13.1
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:48858-3379400)x1 copy number loss See cases [RCV000448506] Chr17:48858..3379400 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2891302)x1 copy number loss See cases [RCV000447687] Chr17:525..2891302 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2363548)x1 copy number loss See cases [RCV000448774] Chr17:525..2363548 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2750745)x1 copy number loss See cases [RCV000510381] Chr17:525..2750745 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:800049-2390454)x1 copy number loss See cases [RCV000510317] Chr17:800049..2390454 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1 copy number loss See cases [RCV000511508] Chr17:525..3825428 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:1922768-3429136)x3 copy number gain See cases [RCV000511855] Chr17:1922768..3429136 [GRCh37]
Chr17:17p13.3-13.2
likely pathogenic
GRCh37/hg19 17p13.3(chr17:1997443-2825460)x1 copy number loss See cases [RCV000511094] Chr17:1997443..2825460 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1361431-2573023) copy number loss Lissencephaly [RCV000626514] Chr17:1361431..2573023 [GRCh37]
Chr17:17p13.3
pathogenic
NM_014853.3(SGSM2):c.563C>G (p.Thr188Arg) single nucleotide variant not specified [RCV004294921] Chr17:2363025 [GRCh38]
Chr17:2266319 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2359T>C (p.Ser787Pro) single nucleotide variant not specified [RCV004328476] Chr17:2375750 [GRCh38]
Chr17:2279044 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3 copy number gain See cases [RCV000512413] Chr17:525..4151421 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:2213316-2901583)x3 copy number gain See cases [RCV000512436] Chr17:2213316..2901583 [GRCh37]
Chr17:17p13.3
likely pathogenic
GRCh37/hg19 17p13.3(chr17:525-2264023)x1 copy number loss See cases [RCV000512467] Chr17:525..2264023 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1-2538512)x4,5 copy number gain Partial agenesis of the corpus callosum [RCV000754117] Chr17:1..2538512 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:7214-3871323)x1 copy number loss not provided [RCV000739319] Chr17:7214..3871323 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_014853.3(SGSM2):c.1441G>A (p.Glu481Lys) single nucleotide variant not specified [RCV004282343] Chr17:2371279 [GRCh38]
Chr17:2274573 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:2050166-4315506)x1 copy number loss not provided [RCV000751897] Chr17:2050166..4315506 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:2258629-2260255)x1 copy number loss not provided [RCV000751898] Chr17:2258629..2260255 [GRCh37]
Chr17:17p13.3
benign
NM_014853.3(SGSM2):c.825G>A (p.Ala275=) single nucleotide variant not provided [RCV000966020] Chr17:2364076 [GRCh38]
Chr17:2267370 [GRCh37]
Chr17:17p13.3
benign
NM_014853.3(SGSM2):c.236G>C (p.Cys79Ser) single nucleotide variant not provided [RCV000967430] Chr17:2361739 [GRCh38]
Chr17:2265033 [GRCh37]
Chr17:17p13.3
benign
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) copy number gain Chromosome 17P13.3, telomeric, duplication syndrome [RCV000767586] Chr17:47546..6287620 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_014853.3(SGSM2):c.2000G>A (p.Arg667Gln) single nucleotide variant not provided [RCV000947751] Chr17:2373413 [GRCh38]
Chr17:2276707 [GRCh37]
Chr17:17p13.3
benign
Single allele deletion Neurodevelopmental disorder [RCV000787383] Chr17:2173896..2414920 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:2172709-2646895)x1 copy number loss not provided [RCV000847536] Chr17:2172709..2646895 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1501331-2832123)x3 copy number gain not provided [RCV000848392] Chr17:1501331..2832123 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 copy number loss See cases [RCV001007429] Chr17:8547..5627408 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:2010046-2279595)x3 copy number gain not provided [RCV000847512] Chr17:2010046..2279595 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.934G>A (p.Val312Ile) single nucleotide variant not specified [RCV004281947] Chr17:2364597 [GRCh38]
Chr17:2267891 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.1741G>A (p.Ala581Thr) single nucleotide variant not specified [RCV004283874] Chr17:2372441 [GRCh38]
Chr17:2275735 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.1837G>A (p.Glu613Lys) single nucleotide variant not specified [RCV004289386] Chr17:2373001 [GRCh38]
Chr17:2276295 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.1425C>T (p.Asp475=) single nucleotide variant not provided [RCV000966021] Chr17:2371263 [GRCh38]
Chr17:2274557 [GRCh37]
Chr17:17p13.3
benign
NM_014853.3(SGSM2):c.1707C>T (p.Ser569=) single nucleotide variant not provided [RCV000886144] Chr17:2372407 [GRCh38]
Chr17:2275701 [GRCh37]
Chr17:17p13.3
benign
GRCh37/hg19 17p13.3(chr17:2161424-2825460)x1 copy number loss not provided [RCV002472617] Chr17:2161424..2825460 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1377247-2455613)x3 copy number gain not provided [RCV002473905] Chr17:1377247..2455613 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:84287-2468384)x1 copy number loss Distal 17p13.3 microdeletion syndrome [RCV001263217] Chr17:84287..2468384 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:2111786-2344649)x3 copy number gain not provided [RCV001007493] Chr17:2111786..2344649 [GRCh37]
Chr17:17p13.3
uncertain significance
NC_000017.10:g.(?_1173858)_(3819519_?)dup duplication not provided [RCV002014058] Chr17:1173858..3819519 [GRCh37]
Chr17:17p13.3-13.2
uncertain significance
NM_014853.3(SGSM2):c.1415C>T (p.Pro472Leu) single nucleotide variant not specified [RCV004283689] Chr17:2367397 [GRCh38]
Chr17:2270691 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:1095592-3484368)x3 copy number gain not provided [RCV002472591] Chr17:1095592..3484368 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_014853.3(SGSM2):c.1742C>T (p.Ala581Val) single nucleotide variant not specified [RCV004294665] Chr17:2372442 [GRCh38]
Chr17:2275736 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2590C>G (p.Leu864Val) single nucleotide variant not specified [RCV004301340] Chr17:2376242 [GRCh38]
Chr17:2279536 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.693C>G (p.Ser231Arg) single nucleotide variant not specified [RCV004327665] Chr17:2363485 [GRCh38]
Chr17:2266779 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2341G>C (p.Gly781Arg) single nucleotide variant not specified [RCV004226529] Chr17:2375732 [GRCh38]
Chr17:2279026 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.317A>C (p.Gln106Pro) single nucleotide variant not specified [RCV004156396] Chr17:2362129 [GRCh38]
Chr17:2265423 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2363G>A (p.Ser788Asn) single nucleotide variant not specified [RCV004200482] Chr17:2375754 [GRCh38]
Chr17:2279048 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.1207G>T (p.Val403Leu) single nucleotide variant not specified [RCV004139785] Chr17:2365260 [GRCh38]
Chr17:2268554 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.16G>A (p.Asp6Asn) single nucleotide variant not specified [RCV004164344] Chr17:2337704 [GRCh38]
Chr17:2240998 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.1654T>G (p.Cys552Gly) single nucleotide variant not specified [RCV004148185] Chr17:2372354 [GRCh38]
Chr17:2275648 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.3085G>A (p.Asp1029Asn) single nucleotide variant not specified [RCV004137700] Chr17:2379449 [GRCh38]
Chr17:2282743 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.1319G>A (p.Ser440Asn) single nucleotide variant not specified [RCV004182611] Chr17:2367301 [GRCh38]
Chr17:2270595 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.302C>T (p.Pro101Leu) single nucleotide variant not specified [RCV004234086] Chr17:2362114 [GRCh38]
Chr17:2265408 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.1243G>A (p.Asp415Asn) single nucleotide variant not specified [RCV004202898] Chr17:2365296 [GRCh38]
Chr17:2268590 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2045G>T (p.Ser682Ile) single nucleotide variant not specified [RCV004149651] Chr17:2373458 [GRCh38]
Chr17:2276752 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.3023G>A (p.Arg1008His) single nucleotide variant not specified [RCV004110827] Chr17:2379159 [GRCh38]
Chr17:2282453 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2266C>T (p.Arg756Cys) single nucleotide variant not specified [RCV004093490] Chr17:2375657 [GRCh38]
Chr17:2278951 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2423C>G (p.Pro808Arg) single nucleotide variant not specified [RCV004076346] Chr17:2375814 [GRCh38]
Chr17:2279108 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.175G>A (p.Ala59Thr) single nucleotide variant not specified [RCV004077429] Chr17:2361678 [GRCh38]
Chr17:2264972 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.1049C>T (p.Pro350Leu) single nucleotide variant not specified [RCV004107021] Chr17:2364945 [GRCh38]
Chr17:2268239 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.1202G>A (p.Arg401His) single nucleotide variant not specified [RCV004221849] Chr17:2365255 [GRCh38]
Chr17:2268549 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2060T>C (p.Val687Ala) single nucleotide variant not specified [RCV004165744] Chr17:2373473 [GRCh38]
Chr17:2276767 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2050G>A (p.Asp684Asn) single nucleotide variant not specified [RCV004200601] Chr17:2373463 [GRCh38]
Chr17:2276757 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2066G>A (p.Arg689His) single nucleotide variant not specified [RCV004202705] Chr17:2373479 [GRCh38]
Chr17:2276773 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2557T>C (p.Tyr853His) single nucleotide variant not specified [RCV004174082] Chr17:2376209 [GRCh38]
Chr17:2279503 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2542A>G (p.Arg848Gly) single nucleotide variant not specified [RCV004170287] Chr17:2376194 [GRCh38]
Chr17:2279488 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.1780G>A (p.Asp594Asn) single nucleotide variant not specified [RCV004077876] Chr17:2372480 [GRCh38]
Chr17:2275774 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.176C>T (p.Ala59Val) single nucleotide variant not specified [RCV004082008] Chr17:2361679 [GRCh38]
Chr17:2264973 [GRCh37]
Chr17:17p13.3
uncertain significance
NC_000017.10:g.(?_422368)_(2585096_?)dup duplication not provided [RCV003154911] Chr17:422368..2585096 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.730C>T (p.Arg244Cys) single nucleotide variant not specified [RCV004268835] Chr17:2363522 [GRCh38]
Chr17:2266816 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.239C>T (p.Pro80Leu) single nucleotide variant not specified [RCV004248017] Chr17:2361742 [GRCh38]
Chr17:2265036 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.190C>T (p.Arg64Cys) single nucleotide variant not specified [RCV004254055] Chr17:2361693 [GRCh38]
Chr17:2264987 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.1231G>A (p.Gly411Arg) single nucleotide variant not specified [RCV004274788] Chr17:2365284 [GRCh38]
Chr17:2268578 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2620G>C (p.Glu874Gln) single nucleotide variant not specified [RCV004295411] Chr17:2376743 [GRCh38]
Chr17:2280037 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.27A>C (p.Lys9Asn) single nucleotide variant not specified [RCV004265011] Chr17:2337715 [GRCh38]
Chr17:2241009 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.658C>T (p.Arg220Cys) single nucleotide variant not specified [RCV004255635] Chr17:2363120 [GRCh38]
Chr17:2266414 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.611G>A (p.Arg204Gln) single nucleotide variant not specified [RCV004260558] Chr17:2363073 [GRCh38]
Chr17:2266367 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.208G>A (p.Ala70Thr) single nucleotide variant not specified [RCV004291019] Chr17:2361711 [GRCh38]
Chr17:2265005 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.3104G>A (p.Arg1035Gln) single nucleotide variant not specified [RCV004326123] Chr17:2379468 [GRCh38]
Chr17:2282762 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12
pathogenic
NM_014853.3(SGSM2):c.2437C>A (p.Leu813Met) single nucleotide variant not specified [RCV004347130] Chr17:2375828 [GRCh38]
Chr17:2279122 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2069T>G (p.Leu690Arg) single nucleotide variant not specified [RCV004353083] Chr17:2373482 [GRCh38]
Chr17:2276776 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.430G>T (p.Val144Phe) single nucleotide variant not specified [RCV004356352] Chr17:2362242 [GRCh38]
Chr17:2265536 [GRCh37]
Chr17:17p13.3
uncertain significance
Single allele deletion not provided [RCV003448682] Chr17:2..4611147 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1 copy number loss not provided [RCV003483307] Chr17:526..3441645 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:526-2687966)x3 copy number gain not provided [RCV003485133] Chr17:526..2687966 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:2014070-2262703)x3 copy number gain not provided [RCV003485140] Chr17:2014070..2262703 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:2264478-2570762)x3 copy number gain not specified [RCV003987241] Chr17:2264478..2570762 [GRCh37]
Chr17:17p13.3
likely pathogenic
GRCh37/hg19 17p13.3(chr17:2075954-2262703)x3 copy number gain not specified [RCV003987221] Chr17:2075954..2262703 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1 copy number loss not specified [RCV003987214] Chr17:9474..6017500 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2
pathogenic
GRCh37/hg19 17p13.3(chr17:1505119-3010963)x1 copy number loss not specified [RCV003987256] Chr17:1505119..3010963 [GRCh37]
Chr17:17p13.3
pathogenic
NM_014853.3(SGSM2):c.1270G>A (p.Gly424Ser) single nucleotide variant not specified [RCV004447946] Chr17:2365323 [GRCh38]
Chr17:2268617 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.191G>A (p.Arg64His) single nucleotide variant not specified [RCV004447951] Chr17:2361694 [GRCh38]
Chr17:2264988 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2227G>A (p.Val743Met) single nucleotide variant not specified [RCV004447955] Chr17:2375618 [GRCh38]
Chr17:2278912 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2395G>C (p.Glu799Gln) single nucleotide variant not specified [RCV004447956] Chr17:2375786 [GRCh38]
Chr17:2279080 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2479T>G (p.Tyr827Asp) single nucleotide variant not specified [RCV004447958] Chr17:2375870 [GRCh38]
Chr17:2279164 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2499C>A (p.Asp833Glu) single nucleotide variant not specified [RCV004447960] Chr17:2376151 [GRCh38]
Chr17:2279445 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.1282G>A (p.Glu428Lys) single nucleotide variant not specified [RCV004447947] Chr17:2365335 [GRCh38]
Chr17:2268629 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.1621G>A (p.Val541Met) single nucleotide variant not specified [RCV004447949] Chr17:2372233 [GRCh38]
Chr17:2275527 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.1828G>A (p.Gly610Arg) single nucleotide variant not specified [RCV004447950] Chr17:2372992 [GRCh38]
Chr17:2276286 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2065C>T (p.Arg689Cys) single nucleotide variant not specified [RCV004447953] Chr17:2373478 [GRCh38]
Chr17:2276772 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2458G>T (p.Ala820Ser) single nucleotide variant not specified [RCV004447957] Chr17:2375849 [GRCh38]
Chr17:2279143 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2486T>C (p.Ile829Thr) single nucleotide variant not specified [RCV004447959] Chr17:2376138 [GRCh38]
Chr17:2279432 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.266T>C (p.Val89Ala) single nucleotide variant not specified [RCV004447961] Chr17:2361769 [GRCh38]
Chr17:2265063 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.3079C>T (p.His1027Tyr) single nucleotide variant not specified [RCV004447962] Chr17:2379443 [GRCh38]
Chr17:2282737 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.73G>A (p.Glu25Lys) single nucleotide variant not specified [RCV004447964] Chr17:2343560 [GRCh38]
Chr17:2246854 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.764G>A (p.Arg255Gln) single nucleotide variant not specified [RCV004447965] Chr17:2363556 [GRCh38]
Chr17:2266850 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.1033G>C (p.Asp345His) single nucleotide variant not specified [RCV004447945] Chr17:2364929 [GRCh38]
Chr17:2268223 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.1324G>A (p.Ala442Thr) single nucleotide variant not specified [RCV004447948] Chr17:2367306 [GRCh38]
Chr17:2270600 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2006C>T (p.Ala669Val) single nucleotide variant not specified [RCV004447952] Chr17:2373419 [GRCh38]
Chr17:2276713 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.586C>T (p.Pro196Ser) single nucleotide variant not specified [RCV004447963] Chr17:2363048 [GRCh38]
Chr17:2266342 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.812A>C (p.Glu271Ala) single nucleotide variant not specified [RCV004447966] Chr17:2364063 [GRCh38]
Chr17:2267357 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2473G>C (p.Ala825Pro) single nucleotide variant not specified [RCV004666272] Chr17:2375864 [GRCh38]
Chr17:2279158 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2789G>A (p.Arg930His) single nucleotide variant not specified [RCV004667237] Chr17:2377055 [GRCh38]
Chr17:2280349 [GRCh37]
Chr17:17p13.3
uncertain significance
NC_000017.10:g.(?_1648982)_(2583634_?)del deletion not provided [RCV004581356] Chr17:1648982..2583634 [GRCh37]
Chr17:17p13.3
pathogenic
NM_014853.3(SGSM2):c.2311G>C (p.Gly771Arg) single nucleotide variant not specified [RCV004667241] Chr17:2375702 [GRCh38]
Chr17:2278996 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2177A>G (p.Glu726Gly) single nucleotide variant not specified [RCV004666266] Chr17:2375568 [GRCh38]
Chr17:2278862 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.1670C>T (p.Thr557Met) single nucleotide variant not specified [RCV004666267] Chr17:2372370 [GRCh38]
Chr17:2275664 [GRCh37]
Chr17:17p13.3
uncertain significance
NC_000017.10:g.(?_422368)_(8285628_?)dup duplication not provided [RCV004581443] Chr17:422368..8285628 [GRCh37]
Chr17:17p13.3-13.1
uncertain significance
NM_014853.3(SGSM2):c.1283A>C (p.Glu428Ala) single nucleotide variant not specified [RCV004666271] Chr17:2365336 [GRCh38]
Chr17:2268630 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.3091C>G (p.Gln1031Glu) single nucleotide variant not specified [RCV004666273] Chr17:2379455 [GRCh38]
Chr17:2282749 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.2467T>C (p.Cys823Arg) single nucleotide variant not specified [RCV004666264] Chr17:2375858 [GRCh38]
Chr17:2279152 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.472A>G (p.Lys158Glu) single nucleotide variant not specified [RCV004666265] Chr17:2362851 [GRCh38]
Chr17:2266145 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.5G>T (p.Gly2Val) single nucleotide variant not specified [RCV004667240] Chr17:2337693 [GRCh38]
Chr17:2240987 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.1006G>A (p.Gly336Ser) single nucleotide variant not specified [RCV004667242] Chr17:2364902 [GRCh38]
Chr17:2268196 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.1849C>T (p.Arg617Cys) single nucleotide variant not specified [RCV004666269] Chr17:2373013 [GRCh38]
Chr17:2276307 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.1658G>A (p.Arg553His) single nucleotide variant not specified [RCV004666270] Chr17:2372358 [GRCh38]
Chr17:2275652 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.1313C>T (p.Ala438Val) single nucleotide variant not specified [RCV004667238] Chr17:2367295 [GRCh38]
Chr17:2270589 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_014853.3(SGSM2):c.727G>A (p.Ala243Thr) single nucleotide variant not specified [RCV004667239] Chr17:2363519 [GRCh38]
Chr17:2266813 [GRCh37]
Chr17:17p13.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5486
Count of miRNA genes:1104
Interacting mature miRNAs:1415
Transcripts:ENST00000268989, ENST00000426855, ENST00000570431, ENST00000572841, ENST00000572875, ENST00000572925, ENST00000573062, ENST00000573717, ENST00000573851, ENST00000574250, ENST00000574563, ENST00000574650, ENST00000574857, ENST00000575367
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
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
597109911GWAS1205985_Hinsulin measurement QTL GWAS1205985 (human)9e-10insulin measurementpancreatic islet insulin release measurement (CMO:0001216)1723794852379486Human
597124661GWAS1220735_Hattention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement QTL GWAS1220735 (human)9e-12attention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement1723386052338606Human
597095317GWAS1191391_Hautism spectrum disorder QTL GWAS1191391 (human)0.000009autism spectrum disorder1723747702374771Human
597516606GWAS1612680_Hcigarettes per day measurement QTL GWAS1612680 (human)3e-12cigarettes per day measurement1723750982375099Human
597017201GWAS1113275_Htaste liking measurement QTL GWAS1113275 (human)1e-09taste liking measurement1723750982375099Human
406917124GWAS566100_Hrisky sexual behaviour measurement QTL GWAS566100 (human)6e-11sexual interaction trait (VT:0002566)1723446882344689Human
597047601GWAS1143675_Herythrocyte count QTL GWAS1143675 (human)4e-09erythrocyte countred blood cell count (CMO:0000025)1723518992351900Human
597057809GWAS1153883_Hinsulin measurement QTL GWAS1153883 (human)2e-10insulin measurementpancreatic islet insulin release measurement (CMO:0001216)1723593172359318Human
597212880GWAS1308954_Hself reported educational attainment QTL GWAS1308954 (human)1e-11self reported educational attainment1723747702374771Human
597054047GWAS1150121_Hhousehold income QTL GWAS1150121 (human)4e-08household income1723710432371044Human
597348816GWAS1444890_Hrisky sexual behaviour measurement QTL GWAS1444890 (human)3e-12sexual interaction trait (VT:0002566)1723446882344689Human
597335089GWAS1431163_Hsmoking initiation QTL GWAS1431163 (human)8e-14smoking initiation1723459782345979Human
597287989GWAS1384063_Hhypertension QTL GWAS1384063 (human)2e-08hypertension1723380172338018Human
597085243GWAS1181317_Hbody mass index QTL GWAS1181317 (human)3e-08systolic blood pressuresystolic blood pressure (CMO:0000004)1723398422339843Human
597390294GWAS1486368_Hlifestyle measurement QTL GWAS1486368 (human)7e-12lifestyle measurement1723744262374427Human
597058392GWAS1154466_Hmultiple sclerosis QTL GWAS1154466 (human)0.000002multiple sclerosis1723501742350175Human
597354346GWAS1450420_Hbody height QTL GWAS1450420 (human)6e-10body height (VT:0001253)body height (CMO:0000106)1723618192361820Human
407041491GWAS690467_Hinsulin measurement QTL GWAS690467 (human)3e-09insulin measurementpancreatic islet insulin release measurement (CMO:0001216)1723594092359410Human
597490856GWAS1586930_Hmigraine disorder, glucose measurement QTL GWAS1586930 (human)2e-08migraine disorder, glucose measurementblood glucose level (CMO:0000046)1723669902366991Human
597351023GWAS1447097_Hbody height QTL GWAS1447097 (human)1e-13body height (VT:0001253)body height (CMO:0000106)1723477652347766Human
407052789GWAS701765_Hinsomnia measurement QTL GWAS701765 (human)2e-09sleep behavior trait (VT:0001501)1723403342340335Human
597108832GWAS1204906_Hself reported educational attainment QTL GWAS1204906 (human)6e-13self reported educational attainment1723747702374771Human
597268864GWAS1364938_Htaste liking measurement QTL GWAS1364938 (human)7e-11taste liking measurement1723747702374771Human
596975563GWAS1095082_Hhypertension QTL GWAS1095082 (human)2e-08hypertension1723380172338018Human

Markers in Region
RH91781  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37172,284,101 - 2,284,241UniSTSGRCh37
Build 36172,230,851 - 2,230,991RGDNCBI36
Celera172,300,214 - 2,300,354RGD
Cytogenetic Map17p13.3UniSTS
HuRef172,177,649 - 2,177,789UniSTS
GeneMap99-GB4 RH Map1732.27UniSTS
G63690  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37172,249,699 - 2,250,038UniSTSGRCh37
Build 36172,196,449 - 2,196,788RGDNCBI36
Celera172,265,801 - 2,266,140RGD
Cytogenetic Map17p13.3UniSTS
HuRef172,144,645 - 2,144,984UniSTS
TNG Radiation Hybrid Map171094.0UniSTS
D17S379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37172,287,635 - 2,287,984UniSTSGRCh37
GRCh37172,425,681 - 2,425,839UniSTSGRCh37
GRCh37172,256,551 - 2,256,696UniSTSGRCh37
GRCh37172,374,287 - 2,374,430UniSTSGRCh37
Build 36172,372,431 - 2,372,589RGDNCBI36
Celera172,442,117 - 2,442,275RGD
Celera172,390,386 - 2,390,529UniSTS
Celera172,272,654 - 2,272,799UniSTS
Celera172,303,748 - 2,304,103UniSTS
HuRef172,318,263 - 2,318,421UniSTS
HuRef172,151,498 - 2,151,643UniSTS
HuRef172,181,183 - 2,181,538UniSTS
HuRef172,267,235 - 2,267,378UniSTS
D17S1397E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37172,284,103 - 2,284,283UniSTSGRCh37
Build 36172,230,853 - 2,231,033RGDNCBI36
Celera172,300,216 - 2,300,396RGD
Cytogenetic Map17p13.3UniSTS
HuRef172,177,651 - 2,177,831UniSTS
RH41934  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37172,284,032 - 2,284,270UniSTSGRCh37
Build 36172,230,782 - 2,231,020RGDNCBI36
Celera172,300,145 - 2,300,383RGD
Cytogenetic Map17p13.3UniSTS
HuRef172,177,580 - 2,177,818UniSTS
GeneMap99-GB4 RH Map1732.32UniSTS
SHGC-30137  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17p13.3UniSTS
TNG Radiation Hybrid Map171077.0UniSTS
GeneMap99-G3 RH Map17170.0UniSTS
D17S379  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17p13.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001098509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_934127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_934129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB007857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB275762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB449878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL450226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC061895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000268989   ⟹   ENSP00000268989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,337,501 - 2,381,054 (+)Ensembl
Ensembl Acc Id: ENST00000426855   ⟹   ENSP00000415107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,337,514 - 2,381,058 (+)Ensembl
Ensembl Acc Id: ENST00000570431   ⟹   ENSP00000460205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,363,562 - 2,364,998 (+)Ensembl
Ensembl Acc Id: ENST00000572841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,376,360 - 2,381,050 (+)Ensembl
Ensembl Acc Id: ENST00000572875   ⟹   ENSP00000459218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,337,498 - 2,362,157 (+)Ensembl
Ensembl Acc Id: ENST00000572925   ⟹   ENSP00000461820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,379,168 - 2,380,810 (+)Ensembl
Ensembl Acc Id: ENST00000573062   ⟹   ENSP00000476800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,337,506 - 2,364,965 (+)Ensembl
Ensembl Acc Id: ENST00000573717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,371,863 - 2,374,281 (+)Ensembl
Ensembl Acc Id: ENST00000573851   ⟹   ENSP00000464593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,377,913 - 2,379,565 (+)Ensembl
Ensembl Acc Id: ENST00000574250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,372,581 - 2,373,385 (+)Ensembl
Ensembl Acc Id: ENST00000574563   ⟹   ENSP00000459126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,337,622 - 2,380,675 (+)Ensembl
Ensembl Acc Id: ENST00000574650   ⟹   ENSP00000476637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,361,777 - 2,363,045 (+)Ensembl
Ensembl Acc Id: ENST00000574857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,363,845 - 2,374,580 (+)Ensembl
Ensembl Acc Id: ENST00000575367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,366,528 - 2,371,820 (+)Ensembl
RefSeq Acc Id: NM_001098509   ⟹   NP_001091979
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,381,054 (+)NCBI
GRCh37172,240,806 - 2,284,353 (+)NCBI
Build 36172,187,558 - 2,231,098 (+)NCBI Archive
Celera172,256,908 - 2,300,461 (+)RGD
HuRef172,135,506 - 2,177,896 (+)RGD
CHM1_1172,249,761 - 2,291,729 (+)NCBI
T2T-CHM13v2.0172,224,838 - 2,269,747 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001346700   ⟹   NP_001333629
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,381,054 (+)NCBI
T2T-CHM13v2.0172,224,838 - 2,269,747 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014853   ⟹   NP_055668
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,381,054 (+)NCBI
GRCh37172,240,806 - 2,284,353 (+)NCBI
Build 36172,187,556 - 2,231,098 (+)NCBI Archive
Celera172,256,908 - 2,300,461 (+)RGD
HuRef172,135,506 - 2,177,896 (+)RGD
CHM1_1172,249,759 - 2,291,729 (+)NCBI
T2T-CHM13v2.0172,224,838 - 2,269,747 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524101   ⟹   XP_011522403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,381,054 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524102   ⟹   XP_011522404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,381,054 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524103   ⟹   XP_011522405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,381,054 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524104   ⟹   XP_011522406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,340,376 - 2,381,054 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524105   ⟹   XP_011522407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,381,054 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524106   ⟹   XP_011522408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,381,054 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524107   ⟹   XP_011522409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,381,054 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524108   ⟹   XP_011522410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,381,054 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524109   ⟹   XP_011522411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,367,156 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524110   ⟹   XP_011522412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,365,607 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025474   ⟹   XP_016880963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,381,054 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025475   ⟹   XP_016880964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,381,054 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047437209   ⟹   XP_047293165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,381,054 (+)NCBI
RefSeq Acc Id: XM_047437210   ⟹   XP_047293166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,381,054 (+)NCBI
RefSeq Acc Id: XM_047437211   ⟹   XP_047293167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,381,054 (+)NCBI
RefSeq Acc Id: XM_047437212   ⟹   XP_047293168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,381,054 (+)NCBI
RefSeq Acc Id: XM_047437213   ⟹   XP_047293169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,381,054 (+)NCBI
RefSeq Acc Id: XM_047437214   ⟹   XP_047293170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,381,054 (+)NCBI
RefSeq Acc Id: XM_047437215   ⟹   XP_047293171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,376,255 (+)NCBI
RefSeq Acc Id: XM_047437216   ⟹   XP_047293172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,367,364 (+)NCBI
RefSeq Acc Id: XM_047437217   ⟹   XP_047293173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,371,417 (+)NCBI
RefSeq Acc Id: XM_047437218   ⟹   XP_047293174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,371,341 (+)NCBI
RefSeq Acc Id: XM_047437219   ⟹   XP_047293175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,367,346 (+)NCBI
RefSeq Acc Id: XM_047437220   ⟹   XP_047293176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,337,501 - 2,367,264 (+)NCBI
RefSeq Acc Id: XM_054318062   ⟹   XP_054174037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,269,747 (+)NCBI
RefSeq Acc Id: XM_054318063   ⟹   XP_054174038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,269,747 (+)NCBI
RefSeq Acc Id: XM_054318064   ⟹   XP_054174039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,269,747 (+)NCBI
RefSeq Acc Id: XM_054318065   ⟹   XP_054174040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,227,713 - 2,269,747 (+)NCBI
RefSeq Acc Id: XM_054318066   ⟹   XP_054174041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,269,747 (+)NCBI
RefSeq Acc Id: XM_054318067   ⟹   XP_054174042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,269,747 (+)NCBI
RefSeq Acc Id: XM_054318068   ⟹   XP_054174043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,269,747 (+)NCBI
RefSeq Acc Id: XM_054318069   ⟹   XP_054174044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,269,747 (+)NCBI
RefSeq Acc Id: XM_054318070   ⟹   XP_054174045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,269,747 (+)NCBI
RefSeq Acc Id: XM_054318071   ⟹   XP_054174046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,269,747 (+)NCBI
RefSeq Acc Id: XM_054318072   ⟹   XP_054174047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,269,747 (+)NCBI
RefSeq Acc Id: XM_054318073   ⟹   XP_054174048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,269,747 (+)NCBI
RefSeq Acc Id: XM_054318074   ⟹   XP_054174049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,269,747 (+)NCBI
RefSeq Acc Id: XM_054318075   ⟹   XP_054174050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,269,747 (+)NCBI
RefSeq Acc Id: XM_054318076   ⟹   XP_054174051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,269,747 (+)NCBI
RefSeq Acc Id: XM_054318077   ⟹   XP_054174052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,269,747 (+)NCBI
RefSeq Acc Id: XM_054318078   ⟹   XP_054174053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,264,949 (+)NCBI
RefSeq Acc Id: XM_054318079   ⟹   XP_054174054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,255,820 (+)NCBI
RefSeq Acc Id: XM_054318080   ⟹   XP_054174055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,254,271 (+)NCBI
RefSeq Acc Id: XM_054318081   ⟹   XP_054174056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,256,028 (+)NCBI
RefSeq Acc Id: XM_054318082   ⟹   XP_054174057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,260,111 (+)NCBI
RefSeq Acc Id: XM_054318083   ⟹   XP_054174058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,260,035 (+)NCBI
RefSeq Acc Id: XM_054318084   ⟹   XP_054174059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,256,010 (+)NCBI
RefSeq Acc Id: XM_054318085   ⟹   XP_054174060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,224,838 - 2,255,928 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001091979 (Get FASTA)   NCBI Sequence Viewer  
  NP_001333629 (Get FASTA)   NCBI Sequence Viewer  
  NP_055668 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522403 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522404 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522405 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522406 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522407 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522408 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522409 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522410 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522411 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522412 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880963 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880964 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293165 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293166 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293167 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293168 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293169 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293170 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293171 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293172 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293173 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293174 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293175 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293176 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174037 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174038 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174039 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174040 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174041 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174042 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174043 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174044 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174045 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174046 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174047 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174048 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174049 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174050 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174051 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174052 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174053 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174054 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174055 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174056 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174057 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174058 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174059 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174060 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH39204 (Get FASTA)   NCBI Sequence Viewer  
  BAA23693 (Get FASTA)   NCBI Sequence Viewer  
  BAC86084 (Get FASTA)   NCBI Sequence Viewer  
  BAF63512 (Get FASTA)   NCBI Sequence Viewer  
  BAG58030 (Get FASTA)   NCBI Sequence Viewer  
  BAG65127 (Get FASTA)   NCBI Sequence Viewer  
  BAH16621 (Get FASTA)   NCBI Sequence Viewer  
  EAW90545 (Get FASTA)   NCBI Sequence Viewer  
  EAW90546 (Get FASTA)   NCBI Sequence Viewer  
  EAW90547 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000268989
  ENSP00000268989.3
  ENSP00000415107
  ENSP00000415107.2
  ENSP00000459126
  ENSP00000459126.1
  ENSP00000459218.2
  ENSP00000460205.2
  ENSP00000461820.2
  ENSP00000464593.1
  ENSP00000476637.1
  ENSP00000476800.1
GenBank Protein O43147 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_055668   ⟸   NM_014853
- Peptide Label: isoform 1
- UniProtKB: O43147 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001091979   ⟸   NM_001098509
- Peptide Label: isoform 2
- UniProtKB: O43147 (UniProtKB/Swiss-Prot),   Q6ZUY2 (UniProtKB/Swiss-Prot),   Q49AC2 (UniProtKB/Swiss-Prot),   B4DH69 (UniProtKB/Swiss-Prot),   A5LGW2 (UniProtKB/Swiss-Prot),   Q8IXU4 (UniProtKB/Swiss-Prot),   B9A6J3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522403   ⟸   XM_011524101
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011522405   ⟸   XM_011524103
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011522409   ⟸   XM_011524107
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011522407   ⟸   XM_011524105
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011522404   ⟸   XM_011524102
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011522411   ⟸   XM_011524109
- Peptide Label: isoform X18
- Sequence:
RefSeq Acc Id: XP_011522412   ⟸   XM_011524110
- Peptide Label: isoform X19
- Sequence:
RefSeq Acc Id: XP_011522408   ⟸   XM_011524106
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011522410   ⟸   XM_011524108
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_011522406   ⟸   XM_011524104
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016880964   ⟸   XM_017025475
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016880963   ⟸   XM_017025474
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: NP_001333629   ⟸   NM_001346700
- Peptide Label: isoform 3
- UniProtKB: O43147 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000268989   ⟸   ENST00000268989
Ensembl Acc Id: ENSP00000415107   ⟸   ENST00000426855
Ensembl Acc Id: ENSP00000460205   ⟸   ENST00000570431
Ensembl Acc Id: ENSP00000461820   ⟸   ENST00000572925
Ensembl Acc Id: ENSP00000459218   ⟸   ENST00000572875
Ensembl Acc Id: ENSP00000464593   ⟸   ENST00000573851
Ensembl Acc Id: ENSP00000476800   ⟸   ENST00000573062
Ensembl Acc Id: ENSP00000476637   ⟸   ENST00000574650
Ensembl Acc Id: ENSP00000459126   ⟸   ENST00000574563
RefSeq Acc Id: XP_047293165   ⟸   XM_047437209
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047293167   ⟸   XM_047437211
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047293168   ⟸   XM_047437212
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047293169   ⟸   XM_047437213
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047293166   ⟸   XM_047437210
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047293170   ⟸   XM_047437214
- Peptide Label: isoform X16
RefSeq Acc Id: XP_047293171   ⟸   XM_047437215
- Peptide Label: isoform X17
RefSeq Acc Id: XP_047293173   ⟸   XM_047437217
- Peptide Label: isoform X21
RefSeq Acc Id: XP_047293174   ⟸   XM_047437218
- Peptide Label: isoform X22
RefSeq Acc Id: XP_047293172   ⟸   XM_047437216
- Peptide Label: isoform X20
RefSeq Acc Id: XP_047293175   ⟸   XM_047437219
- Peptide Label: isoform X22
RefSeq Acc Id: XP_047293176   ⟸   XM_047437220
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054174037   ⟸   XM_054318062
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054174038   ⟸   XM_054318063
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054174039   ⟸   XM_054318064
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054174045   ⟸   XM_054318070
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054174046   ⟸   XM_054318071
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054174041   ⟸   XM_054318066
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054174043   ⟸   XM_054318068
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054174044   ⟸   XM_054318069
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054174049   ⟸   XM_054318074
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054174050   ⟸   XM_054318075
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054174042   ⟸   XM_054318067
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054174051   ⟸   XM_054318076
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054174047   ⟸   XM_054318072
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054174048   ⟸   XM_054318073
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054174052   ⟸   XM_054318077
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054174053   ⟸   XM_054318078
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054174057   ⟸   XM_054318082
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054174058   ⟸   XM_054318083
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054174056   ⟸   XM_054318081
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054174059   ⟸   XM_054318084
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054174060   ⟸   XM_054318085
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054174054   ⟸   XM_054318079
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054174055   ⟸   XM_054318080
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054174040   ⟸   XM_054318065
- Peptide Label: isoform X4
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43147-F1-model_v2 AlphaFold O43147 1-1006 view protein structure

Promoters
RGD ID:6794661
Promoter ID:HG_KWN:24665
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_014853,   NM_018128,   UC002FUN.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36172,186,471 - 2,188,097 (-)MPROMDB
RGD ID:7233321
Promoter ID:EPDNEW_H22406
Type:initiation region
Name:SGSM2_1
Description:small G protein signaling modulator 2
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
GRCh38172,337,501 - 2,337,561EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29026 AgrOrtholog
COSMIC SGSM2 COSMIC
Ensembl Genes ENSG00000141258 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000268989 ENTREZGENE
  ENST00000268989.8 UniProtKB/Swiss-Prot
  ENST00000426855 ENTREZGENE
  ENST00000426855.6 UniProtKB/Swiss-Prot
  ENST00000570431.1 UniProtKB/TrEMBL
  ENST00000572875.1 UniProtKB/TrEMBL
  ENST00000572925.1 UniProtKB/TrEMBL
  ENST00000573062.5 UniProtKB/TrEMBL
  ENST00000573851.1 UniProtKB/TrEMBL
  ENST00000574563 ENTREZGENE
  ENST00000574563.5 UniProtKB/Swiss-Prot
  ENST00000574650.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.58.900 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  putative rabgap domain of human tbc1 domain family member 14 like domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ypt/Rab-GAP domain of gyp1p, domain 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000141258 GTEx
HGNC ID HGNC:29026 ENTREZGENE
Human Proteome Map SGSM2 Human Proteome Map
InterPro Rab-GTPase-TBC_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rab-GTPase_TBC_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Run_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Run_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RUN_SGSM2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SGSM1/2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SGSM1/2_RBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9905 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9905 ENTREZGENE
OMIM 611418 OMIM
PANTHER SMALL G PROTEIN SIGNALING MODULATOR 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBC1 DOMAIN FAMILY MEMBER GTPASE-ACTIVATING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PH_RBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RabGAP-TBC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RUN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162403141 PharmGKB
PROSITE RUN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBC_RABGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RUN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF140741 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47923 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5LGW2 ENTREZGENE
  B4DH69 ENTREZGENE
  B9A6J3 ENTREZGENE, UniProtKB/TrEMBL
  I3L1Y7_HUMAN UniProtKB/TrEMBL
  I3L361_HUMAN UniProtKB/TrEMBL
  I3NI18_HUMAN UniProtKB/TrEMBL
  J3QSA2_HUMAN UniProtKB/TrEMBL
  O43147 ENTREZGENE
  Q49AC2 ENTREZGENE
  Q6ZUY2 ENTREZGENE
  Q8IXU4 ENTREZGENE
  SGSM2_HUMAN UniProtKB/Swiss-Prot
  V9GYD2_HUMAN UniProtKB/TrEMBL
  V9GYJ0_HUMAN UniProtKB/TrEMBL
UniProt Secondary A5LGW2 UniProtKB/Swiss-Prot
  B4DH69 UniProtKB/Swiss-Prot
  Q49AC2 UniProtKB/Swiss-Prot
  Q6ZUY2 UniProtKB/Swiss-Prot
  Q8IXU4 UniProtKB/Swiss-Prot