SYNPO2L (synaptopodin 2 like) - Rat Genome Database

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Gene: SYNPO2L (synaptopodin 2 like) Homo sapiens
Analyze
Symbol: SYNPO2L
Name: synaptopodin 2 like
RGD ID: 1348800
HGNC Page HGNC:23532
Description: Predicted to enable actin binding activity. Predicted to be involved in several processes, including positive regulation of Rho protein signal transduction; positive regulation of stress fiber assembly; and sarcomere organization. Predicted to be located in cytoplasm and cytoskeleton. Predicted to be active in Z disc; actin cytoskeleton; and nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ12921; synaptopodin 2-like protein
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
GRCh381073,644,886 - 73,656,029 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1073,644,881 - 73,663,803 (-)EnsemblGRCh38hg38GRCh38
GRCh371075,404,644 - 75,415,787 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361075,075,296 - 75,080,793 (-)NCBINCBI36Build 36hg18NCBI36
Build 341075,075,295 - 75,080,793NCBI
Celera1068,690,238 - 68,701,428 (-)NCBICelera
Cytogenetic Map10q22.2NCBI
HuRef1069,398,153 - 69,409,343 (-)NCBIHuRef
CHM1_11075,686,395 - 75,697,582 (-)NCBICHM1_1
T2T-CHM13v2.01074,516,308 - 74,527,453 (-)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

Cellular Component
actin cytoskeleton  (IBA,IEA)
cytoplasm  (IEA)
cytoskeleton  (IEA)
nucleus  (IBA,IEA)
organelle  (IEA)
Z disc  (IBA,IEA,ISS)

Molecular Function
actin binding  (IBA,IEA)
protein binding  (IPI)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889549   PMID:12477932   PMID:14702039   PMID:15164054   PMID:16344560   PMID:16385451   PMID:21873635   PMID:22544366   PMID:27589061   PMID:29206857   PMID:30021884   PMID:32296183  
PMID:33864728   PMID:33961781  


Genomics

Comparative Map Data
SYNPO2L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381073,644,886 - 73,656,029 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1073,644,881 - 73,663,803 (-)EnsemblGRCh38hg38GRCh38
GRCh371075,404,644 - 75,415,787 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361075,075,296 - 75,080,793 (-)NCBINCBI36Build 36hg18NCBI36
Build 341075,075,295 - 75,080,793NCBI
Celera1068,690,238 - 68,701,428 (-)NCBICelera
Cytogenetic Map10q22.2NCBI
HuRef1069,398,153 - 69,409,343 (-)NCBIHuRef
CHM1_11075,686,395 - 75,697,582 (-)NCBICHM1_1
T2T-CHM13v2.01074,516,308 - 74,527,453 (-)NCBIT2T-CHM13v2.0
Synpo2l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391420,709,013 - 20,718,422 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1420,709,014 - 20,718,422 (-)EnsemblGRCm39 Ensembl
GRCm381420,658,945 - 20,668,354 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1420,658,946 - 20,668,354 (-)EnsemblGRCm38mm10GRCm38
MGSCv371421,478,640 - 21,487,528 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361419,447,970 - 19,456,858 (-)NCBIMGSCv36mm8
Celera1417,042,162 - 17,051,061 (-)NCBICelera
Cytogenetic Map14A3NCBI
cM Map1411.53NCBI
Synpo2l
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8153,681,224 - 3,690,673 (+)NCBIGRCr8
mRatBN7.2153,631,974 - 3,641,429 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl153,631,834 - 3,641,429 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx153,642,161 - 3,651,606 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0155,028,637 - 5,038,079 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0153,640,972 - 3,650,415 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0154,064,706 - 4,074,151 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl154,064,706 - 4,072,635 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0158,165,795 - 8,175,373 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4153,857,420 - 3,865,349 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera15952,778 - 962,215 (-)NCBICelera
Cytogenetic Map15p16NCBI
Synpo2l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543718,177,867 - 18,188,983 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543718,177,867 - 18,186,772 (+)NCBIChiLan1.0ChiLan1.0
SYNPO2L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2885,820,535 - 85,831,913 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11085,825,857 - 85,840,508 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01070,192,289 - 70,204,008 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11072,648,952 - 72,660,184 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1072,648,952 - 72,660,184 (-)Ensemblpanpan1.1panPan2
SYNPO2L
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1424,168,030 - 24,177,710 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl424,169,707 - 24,177,813 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha424,305,570 - 24,315,236 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0424,448,146 - 24,457,808 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl424,448,151 - 24,464,766 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1424,345,386 - 24,355,030 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0424,545,915 - 24,555,569 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0424,900,946 - 24,910,606 (-)NCBIUU_Cfam_GSD_1.0
Synpo2l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721356,913,572 - 56,925,652 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365215,407,754 - 5,418,368 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365215,407,767 - 5,418,368 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SYNPO2L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1476,456,168 - 76,466,641 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11476,456,170 - 76,466,661 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21482,583,031 - 82,593,284 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SYNPO2L
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1957,629,836 - 57,650,458 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl957,631,111 - 57,646,400 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604818,212,812 - 18,223,759 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Synpo2l
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247547,247,838 - 7,255,815 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247547,245,825 - 7,255,926 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SYNPO2L
48 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 copy number loss See cases [RCV000052530] Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2		 pathogenic
GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1 copy number loss See cases [RCV000052531] Chr10:72720628..75612374 [GRCh38]
Chr10:74480386..77372132 [GRCh37]
Chr10:74150392..77042138 [NCBI36]
Chr10:10q22.1-22.2		 pathogenic
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 copy number loss See cases [RCV000052511] Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2		 pathogenic
NM_001114133.2(SYNPO2L):c.2726C>T (p.Pro909Leu) single nucleotide variant Malignant melanoma [RCV000069033] Chr10:73646926 [GRCh38]
Chr10:75406684 [GRCh37]
Chr10:75076690 [NCBI36]
Chr10:10q22.2		 not provided
NM_001114133.2(SYNPO2L):c.84G>A (p.Arg28=) single nucleotide variant Malignant melanoma [RCV000069034] Chr10:73655839 [GRCh38]
Chr10:75415597 [GRCh37]
Chr10:75085603 [NCBI36]
Chr10:10q22.2		 not provided
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2		 pathogenic
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3		 pathogenic
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 copy number loss See cases [RCV000136658] Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2		 pathogenic|likely benign
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q22.2(chr10:75179409-76009153)x3 copy number gain See cases [RCV000511191] Chr10:75179409..76009153 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
NM_001114133.3(SYNPO2L):c.1103C>T (p.Ala368Val) single nucleotide variant Inborn genetic diseases [RCV003257092] Chr10:73648549 [GRCh38]
Chr10:75408307 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.2878G>A (p.Ala960Thr) single nucleotide variant Inborn genetic diseases [RCV003283667] Chr10:73646774 [GRCh38]
Chr10:75406532 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_001114133.3(SYNPO2L):c.1726A>G (p.Met576Val) single nucleotide variant Inborn genetic diseases [RCV003246268] Chr10:73647926 [GRCh38]
Chr10:75407684 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.1270C>G (p.Arg424Gly) single nucleotide variant Inborn genetic diseases [RCV003248559] Chr10:73648382 [GRCh38]
Chr10:75408140 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10q22.2(chr10:75251395-75763287)x1 copy number loss not provided [RCV000849346] Chr10:75251395..75763287 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.1795C>G (p.Pro599Ala) single nucleotide variant Inborn genetic diseases [RCV003252107] Chr10:73647857 [GRCh38]
Chr10:75407615 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.26T>C (p.Val9Ala) single nucleotide variant Inborn genetic diseases [RCV003198635] Chr10:73655897 [GRCh38]
Chr10:75415655 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) copy number loss not specified [RCV002052875] Chr10:68735254..78885714 [GRCh37]
Chr10:10q21.3-22.3		 pathogenic
NM_001114133.3(SYNPO2L):c.2069T>C (p.Val690Ala) single nucleotide variant Inborn genetic diseases [RCV003257096] Chr10:73647583 [GRCh38]
Chr10:75407341 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.2119C>T (p.Pro707Ser) single nucleotide variant Inborn genetic diseases [RCV003261345] Chr10:73647533 [GRCh38]
Chr10:75407291 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.2149A>G (p.Met717Val) single nucleotide variant Inborn genetic diseases [RCV002879991] Chr10:73647503 [GRCh38]
Chr10:75407261 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.640C>A (p.Pro214Thr) single nucleotide variant Inborn genetic diseases [RCV002733173] Chr10:73653271 [GRCh38]
Chr10:75413029 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.2798C>A (p.Ala933Asp) single nucleotide variant Inborn genetic diseases [RCV002836634] Chr10:73646854 [GRCh38]
Chr10:75406612 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.2912G>A (p.Arg971Lys) single nucleotide variant Inborn genetic diseases [RCV002973118] Chr10:73646740 [GRCh38]
Chr10:75406498 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.2599G>A (p.Val867Ile) single nucleotide variant Inborn genetic diseases [RCV002684419] Chr10:73647053 [GRCh38]
Chr10:75406811 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.293C>T (p.Pro98Leu) single nucleotide variant Inborn genetic diseases [RCV002728171] Chr10:73653618 [GRCh38]
Chr10:75413376 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.1228C>T (p.Pro410Ser) single nucleotide variant Inborn genetic diseases [RCV002912059] Chr10:73648424 [GRCh38]
Chr10:75408182 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.500C>T (p.Pro167Leu) single nucleotide variant Inborn genetic diseases [RCV002978117] Chr10:73653411 [GRCh38]
Chr10:75413169 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.977G>A (p.Gly326Asp) single nucleotide variant Inborn genetic diseases [RCV002706817] Chr10:73648675 [GRCh38]
Chr10:75408433 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.989C>T (p.Thr330Met) single nucleotide variant Inborn genetic diseases [RCV003006566] Chr10:73648663 [GRCh38]
Chr10:75408421 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.1660G>A (p.Ala554Thr) single nucleotide variant Inborn genetic diseases [RCV002641945] Chr10:73647992 [GRCh38]
Chr10:75407750 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.1091C>T (p.Ala364Val) single nucleotide variant Inborn genetic diseases [RCV002665464] Chr10:73648561 [GRCh38]
Chr10:75408319 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.619G>A (p.Gly207Arg) single nucleotide variant Inborn genetic diseases [RCV002696816] Chr10:73653292 [GRCh38]
Chr10:75413050 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.745A>T (p.Thr249Ser) single nucleotide variant Inborn genetic diseases [RCV002699101] Chr10:73653166 [GRCh38]
Chr10:75412924 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.1282G>C (p.Ala428Pro) single nucleotide variant Inborn genetic diseases [RCV002893164] Chr10:73648370 [GRCh38]
Chr10:75408128 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.1514C>T (p.Ala505Val) single nucleotide variant Inborn genetic diseases [RCV002901003] Chr10:73648138 [GRCh38]
Chr10:75407896 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.593G>A (p.Arg198His) single nucleotide variant Inborn genetic diseases [RCV002807897] Chr10:73653318 [GRCh38]
Chr10:75413076 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.1994C>T (p.Ala665Val) single nucleotide variant Inborn genetic diseases [RCV002809352] Chr10:73647658 [GRCh38]
Chr10:75407416 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.985C>T (p.Pro329Ser) single nucleotide variant Inborn genetic diseases [RCV002854820] Chr10:73648667 [GRCh38]
Chr10:75408425 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.2294G>T (p.Arg765Leu) single nucleotide variant Inborn genetic diseases [RCV002714722] Chr10:73647358 [GRCh38]
Chr10:75407116 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.77A>G (p.Glu26Gly) single nucleotide variant Inborn genetic diseases [RCV003010878] Chr10:73655846 [GRCh38]
Chr10:75415604 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.805A>G (p.Ser269Gly) single nucleotide variant Inborn genetic diseases [RCV002672533] Chr10:73648847 [GRCh38]
Chr10:75408605 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.175G>T (p.Val59Phe) single nucleotide variant Inborn genetic diseases [RCV002656878] Chr10:73654211 [GRCh38]
Chr10:75413969 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.811A>G (p.Lys271Glu) single nucleotide variant Inborn genetic diseases [RCV003173856] Chr10:73648841 [GRCh38]
Chr10:75408599 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.2120dup (p.Pro708fs) duplication not provided [RCV003228157] Chr10:73647531..73647532 [GRCh38]
Chr10:75407289..75407290 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.2129C>T (p.Ala710Val) single nucleotide variant Inborn genetic diseases [RCV003195717] Chr10:73647523 [GRCh38]
Chr10:75407281 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.2606C>G (p.Pro869Arg) single nucleotide variant Inborn genetic diseases [RCV003197359] Chr10:73647046 [GRCh38]
Chr10:75406804 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.2713A>G (p.Thr905Ala) single nucleotide variant Inborn genetic diseases [RCV003205882] Chr10:73646939 [GRCh38]
Chr10:75406697 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.221A>G (p.Asp74Gly) single nucleotide variant Inborn genetic diseases [RCV003194260] Chr10:73654165 [GRCh38]
Chr10:75413923 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.2389C>G (p.Pro797Ala) single nucleotide variant Inborn genetic diseases [RCV003310006] Chr10:73647263 [GRCh38]
Chr10:75407021 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
NM_001114133.3(SYNPO2L):c.2186C>T (p.Pro729Leu) single nucleotide variant Inborn genetic diseases [RCV003374519] Chr10:73647466 [GRCh38]
Chr10:75407224 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.2582T>C (p.Met861Thr) single nucleotide variant Inborn genetic diseases [RCV003354249] Chr10:73647070 [GRCh38]
Chr10:75406828 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.2389C>A (p.Pro797Thr) single nucleotide variant Inborn genetic diseases [RCV003368644] Chr10:73647263 [GRCh38]
Chr10:75407021 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_001114133.3(SYNPO2L):c.1571G>A (p.Gly524Glu) single nucleotide variant Inborn genetic diseases [RCV003364005] Chr10:73648081 [GRCh38]
Chr10:75407839 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2119
Count of miRNA genes:796
Interacting mature miRNAs:912
Transcripts:ENST00000372873, ENST00000394810, ENST00000606523
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D10S188  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371075,405,879 - 75,406,001UniSTSGRCh37
GRCh371075,405,901 - 75,405,996UniSTSGRCh37
Build 361075,075,885 - 75,076,007RGDNCBI36
Celera1068,691,473 - 68,691,597RGD
Celera1068,691,495 - 68,691,592UniSTS
Cytogenetic Map10q22.2UniSTS
HuRef1069,399,388 - 69,399,512UniSTS
HuRef1069,399,410 - 69,399,507UniSTS
Marshfield Genetic Map1093.92UniSTS
Marshfield Genetic Map1093.92RGD
Genethon Genetic Map1096.9UniSTS
TNG Radiation Hybrid Map1034381.0UniSTS
deCODE Assembly Map1093.97UniSTS
Stanford-G3 RH Map103397.0UniSTS
GeneMap99-GB4 RH Map10380.97UniSTS
Whitehead-RH Map10458.2UniSTS
Whitehead-YAC Contig Map10 UniSTS
GeneMap99-G3 RH Map103373.0UniSTS
RH102916  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371075,405,414 - 75,405,543UniSTSGRCh37
Build 361075,075,420 - 75,075,549RGDNCBI36
Celera1068,691,008 - 68,691,137RGD
Cytogenetic Map10q22.2UniSTS
HuRef1069,398,923 - 69,399,052UniSTS
GeneMap99-GB4 RH Map10381.07UniSTS
D10S283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371075,416,745 - 75,416,885UniSTSGRCh37
Build 361075,086,751 - 75,086,891RGDNCBI36
Celera1068,702,340 - 68,702,480RGD
Cytogenetic Map10q22.2UniSTS
HuRef1069,410,255 - 69,410,395UniSTS
D10S463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371075,405,915 - 75,406,009UniSTSGRCh37
Build 361075,075,921 - 75,076,015RGDNCBI36
Celera1068,691,509 - 68,691,605RGD
Cytogenetic Map10q22.2UniSTS
HuRef1069,399,424 - 69,399,520UniSTS
D10S1313E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371075,404,827 - 75,405,002UniSTSGRCh37
Build 361075,074,833 - 75,075,008RGDNCBI36
Celera1068,690,421 - 68,690,596RGD
Cytogenetic Map10q22.2UniSTS
HuRef1069,398,336 - 69,398,511UniSTS
sY3084  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map4q27UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q32.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3q12.3UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
MARC_17634-17635:1019143787:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371075,413,990 - 75,415,668UniSTSGRCh37
Celera1068,699,586 - 68,701,264UniSTS
HuRef1069,407,501 - 69,409,179UniSTS
D10S188  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q22.2UniSTS
TNG Radiation Hybrid Map1034381.0UniSTS
Stanford-G3 RH Map103397.0UniSTS
GeneMap99-GB4 RH Map10380.97UniSTS
GeneMap99-G3 RH Map103373.0UniSTS


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 visual system adipose tissue appendage entire extraembryonic component
High
Medium 6 833 6 17 17 805 1191 16 28 17 805
Low 175 414 167 79 550 19 459 155 323 36 600 632 69 1 103 233 4
Below cutoff 2182 1663 1383 373 1252 292 3066 846 3382 278 819 917 87 1090 1748 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001114133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005270158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005270159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA176924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB188489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX502518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA685385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC391557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  W73753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  W92641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000372873   ⟹   ENSP00000361964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1073,644,881 - 73,651,029 (-)Ensembl
RefSeq Acc Id: ENST00000394810   ⟹   ENSP00000378289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1073,644,886 - 73,656,029 (-)Ensembl
RefSeq Acc Id: ENST00000606523   ⟹   ENSP00000475768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1073,653,359 - 73,663,803 (-)Ensembl
RefSeq Acc Id: NM_001114133   ⟹   NP_001107605
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381073,644,886 - 73,656,029 (-)NCBI
GRCh371075,404,639 - 75,415,832 (-)NCBI
Celera1068,690,238 - 68,701,428 (-)RGD
HuRef1069,398,148 - 69,409,374 (-)NCBI
CHM1_11075,686,390 - 75,697,613 (-)NCBI
T2T-CHM13v2.01074,516,308 - 74,527,453 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024875   ⟹   NP_079151
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381073,644,886 - 73,651,040 (-)NCBI
GRCh371075,404,639 - 75,415,832 (-)NCBI
Build 361075,075,296 - 75,080,793 (-)NCBI Archive
Celera1068,690,238 - 68,701,428 (-)RGD
HuRef1069,398,148 - 69,409,374 (-)NCBI
CHM1_11075,686,390 - 75,692,548 (-)NCBI
T2T-CHM13v2.01074,516,308 - 74,522,464 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001107605   ⟸   NM_001114133
- Peptide Label: isoform a
- UniProtKB: A5PKV9 (UniProtKB/Swiss-Prot),   Q68A20 (UniProtKB/Swiss-Prot),   Q9H987 (UniProtKB/Swiss-Prot),   B4DJ09 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_079151   ⟸   NM_024875
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: ENSP00000361964   ⟸   ENST00000372873
RefSeq Acc Id: ENSP00000378289   ⟸   ENST00000394810
RefSeq Acc Id: ENSP00000475768   ⟸   ENST00000606523
Protein Domains
PDZ

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H987-F1-model_v2 AlphaFold Q9H987 1-977 view protein structure

Promoters
RGD ID:7217859
Promoter ID:EPDNEW_H14675
Type:initiation region
Name:SYNPO2L_2
Description:synaptopodin 2 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14676  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381073,651,039 - 73,651,099EPDNEW
RGD ID:7217861
Promoter ID:EPDNEW_H14676
Type:initiation region
Name:SYNPO2L_1
Description:synaptopodin 2 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14675  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381073,656,029 - 73,656,089EPDNEW
RGD ID:6788286
Promoter ID:HG_KWN:10066
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000048667
Position:
Human AssemblyChrPosition (strand)Source
Build 361075,080,721 - 75,081,221 (-)MPROMDB
RGD ID:6788293
Promoter ID:HG_KWN:10068
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:ENST00000372872,   OTTHUMT00000316562
Position:
Human AssemblyChrPosition (strand)Source
Build 361075,085,596 - 75,086,096 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23532 AgrOrtholog
COSMIC SYNPO2L COSMIC
Ensembl Genes ENSG00000166317 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000372873 ENTREZGENE
  ENST00000372873.8 UniProtKB/Swiss-Prot
  ENST00000394810 ENTREZGENE
  ENST00000394810.3 UniProtKB/Swiss-Prot
  ENST00000606523.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166317 GTEx
HGNC ID HGNC:23532 ENTREZGENE
Human Proteome Map SYNPO2L Human Proteome Map
InterPro PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79933 UniProtKB/Swiss-Prot
NCBI Gene 79933 ENTREZGENE
PANTHER PUTATIVE-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SYNAPTOPODIN 2-LIKE PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134889033 PharmGKB
PROSITE PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PDZ domain-like UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt A3KMG7_HUMAN UniProtKB/TrEMBL
  A5PKV9 ENTREZGENE
  B4DJ09 ENTREZGENE, UniProtKB/TrEMBL
  Q68A20 ENTREZGENE
  Q9H987 ENTREZGENE, UniProtKB/Swiss-Prot
  U3KQD0_HUMAN UniProtKB/TrEMBL
UniProt Secondary A5PKV9 UniProtKB/Swiss-Prot
  Q68A20 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 SYNPO2L  synaptopodin 2 like    synaptopodin 2-like  Symbol and/or name change 5135510 APPROVED