EXOC3L2 (exocyst complex component 3 like 2) - Rat Genome Database

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Gene: EXOC3L2 (exocyst complex component 3 like 2) Homo sapiens
Analyze
Symbol: EXOC3L2
Name: exocyst complex component 3 like 2
RGD ID: 1605316
HGNC Page HGNC:30162
Description: Predicted to enable SNARE binding activity. Predicted to be involved in exocyst localization and exocytosis. Predicted to act upstream of or within in utero embryonic development. Predicted to be part of exocyst.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: exocyst complex component 3-like 2; exocyst complex component 3-like protein 2; FLJ36147; HBV X-transactivated gene 7 protein; HBV XAg-transactivated protein 7; MGC16332; protein 7 transactivated by hepatitis B virus X antigen (HBxAg); XTP7
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
GRCh381945,212,370 - 45,245,407 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1945,212,370 - 45,245,407 (-)EnsemblGRCh38hg38GRCh38
GRCh371945,715,628 - 45,748,665 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361950,407,719 - 50,429,309 (-)NCBINCBI36Build 36hg18NCBI36
Celera1942,521,452 - 42,543,042 (-)NCBICelera
Cytogenetic Map19q13.32NCBI
HuRef1942,147,898 - 42,169,431 (-)NCBIHuRef
CHM1_11945,719,170 - 45,740,768 (-)NCBICHM1_1
T2T-CHM13v2.01948,039,015 - 48,072,079 (-)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

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:8889549   PMID:12477932   PMID:14702039   PMID:19197348   PMID:20460622   PMID:21566143   PMID:21873635   PMID:22139419   PMID:22381399   PMID:23663385   PMID:24755620  
PMID:28423615   PMID:28514442   PMID:29656893   PMID:30327448   PMID:32296183   PMID:32694731   PMID:33961781   PMID:34373451  


Genomics

Comparative Map Data
EXOC3L2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381945,212,370 - 45,245,407 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1945,212,370 - 45,245,407 (-)EnsemblGRCh38hg38GRCh38
GRCh371945,715,628 - 45,748,665 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361950,407,719 - 50,429,309 (-)NCBINCBI36Build 36hg18NCBI36
Celera1942,521,452 - 42,543,042 (-)NCBICelera
Cytogenetic Map19q13.32NCBI
HuRef1942,147,898 - 42,169,431 (-)NCBIHuRef
CHM1_11945,719,170 - 45,740,768 (-)NCBICHM1_1
T2T-CHM13v2.01948,039,015 - 48,072,079 (-)NCBIT2T-CHM13v2.0
Exoc3l2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39719,197,212 - 19,230,687 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl719,197,256 - 19,230,687 (+)EnsemblGRCm39 Ensembl
GRCm38719,463,287 - 19,496,762 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl719,463,331 - 19,496,762 (+)EnsemblGRCm38mm10GRCm38
MGSCv37720,063,253 - 20,082,111 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36718,647,578 - 18,655,282 (+)NCBIMGSCv36mm8
Celera716,875,415 - 16,902,567 (+)NCBICelera
Cytogenetic Map7A3NCBI
cM Map79.92NCBI
Exoc3l2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8188,241,784 - 88,273,352 (+)NCBIGRCr8
mRatBN7.2179,113,784 - 79,145,359 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl179,112,506 - 79,145,465 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0180,372,708 - 80,404,275 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl180,383,050 - 80,404,290 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0181,638,786 - 81,670,432 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera173,573,529 - 73,605,038 (+)NCBICelera
Cytogenetic Map1q21NCBI
Exoc3l2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555552,261,241 - 2,277,340 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555552,260,885 - 2,281,784 (-)NCBIChiLan1.0ChiLan1.0
EXOC3L2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22051,372,481 - 51,403,276 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11953,235,946 - 53,274,660 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01942,161,728 - 42,195,014 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11950,766,031 - 50,783,387 (-)NCBIpanpan1.1PanPan1.1panPan2
EXOC3L2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11110,265,054 - 110,277,895 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1110,265,043 - 110,277,519 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1109,738,722 - 109,759,777 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01110,787,066 - 110,808,185 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1110,787,048 - 110,807,809 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11110,462,673 - 110,483,748 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01110,097,070 - 110,118,125 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01110,966,439 - 110,987,538 (+)NCBIUU_Cfam_GSD_1.0
LOC101970976
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934917,391,924 - 17,405,080 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049367061,739,267 - 1,752,418 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EXOC3L2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl651,638,065 - 51,668,469 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1651,638,058 - 51,661,716 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
EXOC3L2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1638,670,789 - 38,706,058 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607318,266,461 - 18,299,547 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Exoc3l2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249072,159,935 - 2,179,736 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249072,158,565 - 2,172,103 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EXOC3L2
103 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_138568.4(EXOC3L2):c.398dup (p.Leu134fs) duplication Meckel-Gruber syndrome [RCV000256481] Chr19:45227667..45227668 [GRCh38]
Chr19:45730925..45730926 [GRCh37]
Chr19:19q13.32		 pathogenic|likely pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3 copy number gain See cases [RCV000136578] Chr19:44971420..48257402 [GRCh38]
Chr19:45474677..48760659 [GRCh37]
Chr19:50166517..53452471 [NCBI36]
Chr19:19q13.32-13.33		 pathogenic
GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1 copy number loss See cases [RCV000240182] Chr19:43013365..47241534 [GRCh37]
Chr19:19q13.2-13.32		 pathogenic
GRCh37/hg19 19q13.32(chr19:45284576-45978239)x3 copy number gain See cases [RCV000239782] Chr19:45284576..45978239 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.2403G>C (p.Gln801His) single nucleotide variant Inborn genetic diseases [RCV003243879] Chr19:45213075 [GRCh38]
Chr19:45716333 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1990C>G (p.Arg664Gly) single nucleotide variant Inborn genetic diseases [RCV003241975] Chr19:45217536 [GRCh38]
Chr19:45720794 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1538A>G (p.Tyr513Cys) single nucleotide variant Inborn genetic diseases [RCV003248616] Chr19:45227707 [GRCh38]
Chr19:45730965 [GRCh37]
Chr19:19q13.32		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_001382422.1(EXOC3L2):c.1285G>A (p.Ala429Thr) single nucleotide variant Inborn genetic diseases [RCV003281442] Chr19:45228251 [GRCh38]
Chr19:45731509 [GRCh37]
Chr19:19q13.32		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
NM_001382422.1(EXOC3L2):c.1742G>A (p.Arg581His) single nucleotide variant Inborn genetic diseases [RCV003247687] Chr19:45218297 [GRCh38]
Chr19:45721555 [GRCh37]
Chr19:19q13.32		 uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3 copy number gain not provided [RCV001007051] Chr19:45531056..48174177 [GRCh37]
Chr19:19q13.32-13.33		 uncertain significance
NM_001382422.1(EXOC3L2):c.2215T>C (p.Ser739Pro) single nucleotide variant not provided [RCV002967486] Chr19:45213263 [GRCh38]
Chr19:45716521 [GRCh37]
Chr19:19q13.32		 benign|likely benign
NM_001382422.1(EXOC3L2):c.2379G>A (p.Pro793=) single nucleotide variant not provided [RCV001171806] Chr19:45213099 [GRCh38]
Chr19:45716357 [GRCh37]
Chr19:19q13.32		 likely benign
NC_000019.9:g.(45728172_45730919)_(45731525_45735020)del deletion Meckel-Gruber-like syndrome [RCV001645006] Chr19:45730919..45731525 [GRCh37]
Chr19:19q13.32		 pathogenic
NM_001382422.1(EXOC3L2):c.2390G>A (p.Arg797Gln) single nucleotide variant not provided [RCV002045485] Chr19:45213088 [GRCh38]
Chr19:45716346 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1301T>A (p.Leu434Gln) single nucleotide variant Meckel-like syndrome [RCV001844343] Chr19:45228235 [GRCh38]
Chr19:45731493 [GRCh37]
Chr19:19q13.32		 pathogenic
GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841) copy number gain not specified [RCV002052686] Chr19:45074342..46133841 [GRCh37]
Chr19:19q13.31-13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1449C>T (p.Gly483=) single nucleotide variant not provided [RCV001936622] Chr19:45227997 [GRCh38]
Chr19:45731255 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.2176C>T (p.Arg726Cys) single nucleotide variant not provided [RCV001906621] Chr19:45213302 [GRCh38]
Chr19:45716560 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.2269C>G (p.Pro757Ala) single nucleotide variant not provided [RCV001957351] Chr19:45213209 [GRCh38]
Chr19:45716467 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.2372G>A (p.Arg791Gln) single nucleotide variant not provided [RCV002185966] Chr19:45213106 [GRCh38]
Chr19:45716364 [GRCh37]
Chr19:19q13.32		 benign
NM_001382422.1(EXOC3L2):c.1279C>A (p.Arg427=) single nucleotide variant not provided [RCV002127529] Chr19:45228257 [GRCh38]
Chr19:45731515 [GRCh37]
Chr19:19q13.32		 benign
NM_001382422.1(EXOC3L2):c.1696A>G (p.Asn566Asp) single nucleotide variant not provided [RCV002107933] Chr19:45224801 [GRCh38]
Chr19:45728059 [GRCh37]
Chr19:19q13.32		 benign
NM_001382422.1(EXOC3L2):c.1999-11C>G single nucleotide variant not provided [RCV002097605] Chr19:45216205 [GRCh38]
Chr19:45719463 [GRCh37]
Chr19:19q13.32		 benign
NM_001382422.1(EXOC3L2):c.1372-7C>G single nucleotide variant not provided [RCV002214623] Chr19:45228081 [GRCh38]
Chr19:45731339 [GRCh37]
Chr19:19q13.32		 benign
NM_001382422.1(EXOC3L2):c.1932C>T (p.Thr644=) single nucleotide variant not provided [RCV002147716] Chr19:45217594 [GRCh38]
Chr19:45720852 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.1254C>T (p.Cys418=) single nucleotide variant not provided [RCV002096779] Chr19:45231778 [GRCh38]
Chr19:45735036 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.2025C>T (p.Ala675=) single nucleotide variant not provided [RCV002132270] Chr19:45216168 [GRCh38]
Chr19:45719426 [GRCh37]
Chr19:19q13.32		 benign
NM_001382422.1(EXOC3L2):c.2347A>G (p.Ser783Gly) single nucleotide variant not provided [RCV002206143] Chr19:45213131 [GRCh38]
Chr19:45716389 [GRCh37]
Chr19:19q13.32		 benign
NM_001382422.1(EXOC3L2):c.1270-7A>G single nucleotide variant not provided [RCV002156537] Chr19:45228273 [GRCh38]
Chr19:45731531 [GRCh37]
Chr19:19q13.32		 benign
NM_001382422.1(EXOC3L2):c.1632G>A (p.Pro544=) single nucleotide variant not provided [RCV002159072] Chr19:45224865 [GRCh38]
Chr19:45728123 [GRCh37]
Chr19:19q13.32		 benign
NM_001382422.1(EXOC3L2):c.1372-16G>A single nucleotide variant not provided [RCV002198704] Chr19:45228090 [GRCh38]
Chr19:45731348 [GRCh37]
Chr19:19q13.32		 benign
NM_001382422.1(EXOC3L2):c.1720-19C>T single nucleotide variant not provided [RCV002118021] Chr19:45218338 [GRCh38]
Chr19:45721596 [GRCh37]
Chr19:19q13.32		 benign
NM_001382422.1(EXOC3L2):c.2261C>T (p.Ala754Val) single nucleotide variant Inborn genetic diseases [RCV002754726] Chr19:45213217 [GRCh38]
Chr19:45716475 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1372-7C>T single nucleotide variant not provided [RCV002994364] Chr19:45228081 [GRCh38]
Chr19:45731339 [GRCh37]
Chr19:19q13.32		 benign
NM_001382422.1(EXOC3L2):c.2001G>C (p.Glu667Asp) single nucleotide variant not provided [RCV002815678] Chr19:45216192 [GRCh38]
Chr19:45719450 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1399C>T (p.Pro467Ser) single nucleotide variant not provided [RCV002908863] Chr19:45228047 [GRCh38]
Chr19:45731305 [GRCh37]
Chr19:19q13.32		 benign
NM_001382422.1(EXOC3L2):c.1685G>A (p.Arg562His) single nucleotide variant Inborn genetic diseases [RCV002979476]|not provided [RCV002972505] Chr19:45224812 [GRCh38]
Chr19:45728070 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1200G>A (p.Gly400=) single nucleotide variant not provided [RCV002794917] Chr19:45231832 [GRCh38]
Chr19:45735090 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.2265C>A (p.Asp755Glu) single nucleotide variant EXOC3L2-related condition [RCV003916639]|not provided [RCV002947537] Chr19:45213213 [GRCh38]
Chr19:45716471 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.1645T>A (p.Ser549Thr) single nucleotide variant Inborn genetic diseases [RCV002751940] Chr19:45224852 [GRCh38]
Chr19:45728110 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1831G>A (p.Glu611Lys) single nucleotide variant Inborn genetic diseases [RCV002993127] Chr19:45218208 [GRCh38]
Chr19:45721466 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1744C>T (p.Arg582Trp) single nucleotide variant not provided [RCV002637768] Chr19:45218295 [GRCh38]
Chr19:45721553 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1425G>A (p.Glu475=) single nucleotide variant not provided [RCV002620647] Chr19:45228021 [GRCh38]
Chr19:45731279 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.1690G>A (p.Val564Met) single nucleotide variant not provided [RCV003053127] Chr19:45224807 [GRCh38]
Chr19:45728065 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.2068C>G (p.Pro690Ala) single nucleotide variant Inborn genetic diseases [RCV003000882] Chr19:45216125 [GRCh38]
Chr19:45719383 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1720-15C>T single nucleotide variant not provided [RCV002909688] Chr19:45218334 [GRCh38]
Chr19:45721592 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.1394G>A (p.Arg465Gln) single nucleotide variant Inborn genetic diseases [RCV002662280] Chr19:45228052 [GRCh38]
Chr19:45731310 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.2328C>A (p.Leu776=) single nucleotide variant not provided [RCV003021505] Chr19:45213150 [GRCh38]
Chr19:45716408 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.2194G>A (p.Val732Met) single nucleotide variant Inborn genetic diseases [RCV002805209] Chr19:45213284 [GRCh38]
Chr19:45716542 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1607G>A (p.Arg536Gln) single nucleotide variant Inborn genetic diseases [RCV003003867] Chr19:45224890 [GRCh38]
Chr19:45728148 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.2371C>T (p.Arg791Trp) single nucleotide variant Inborn genetic diseases [RCV002789151] Chr19:45213107 [GRCh38]
Chr19:45716365 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.2101C>T (p.Arg701Cys) single nucleotide variant Inborn genetic diseases [RCV002891990] Chr19:45216092 [GRCh38]
Chr19:45719350 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1367G>T (p.Cys456Phe) single nucleotide variant Inborn genetic diseases [RCV002767763] Chr19:45228169 [GRCh38]
Chr19:45731427 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1741C>T (p.Arg581Cys) single nucleotide variant not provided [RCV002914749] Chr19:45218298 [GRCh38]
Chr19:45721556 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1404C>T (p.Arg468=) single nucleotide variant not provided [RCV002575242] Chr19:45228042 [GRCh38]
Chr19:45731300 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.1688T>C (p.Val563Ala) single nucleotide variant Inborn genetic diseases [RCV002825851] Chr19:45224809 [GRCh38]
Chr19:45728067 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1583+18G>A single nucleotide variant not provided [RCV002663568] Chr19:45227644 [GRCh38]
Chr19:45730902 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.1673G>A (p.Arg558Gln) single nucleotide variant not provided [RCV002931828] Chr19:45224824 [GRCh38]
Chr19:45728082 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.2102G>A (p.Arg701His) single nucleotide variant Inborn genetic diseases [RCV002803901] Chr19:45216091 [GRCh38]
Chr19:45719349 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1749G>A (p.Lys583=) single nucleotide variant not provided [RCV002602665] Chr19:45218290 [GRCh38]
Chr19:45721548 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.1704G>C (p.Leu568=) single nucleotide variant not provided [RCV003031585] Chr19:45224793 [GRCh38]
Chr19:45728051 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.2396G>A (p.Arg799Gln) single nucleotide variant Inborn genetic diseases [RCV002989353] Chr19:45213082 [GRCh38]
Chr19:45716340 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1483C>T (p.Arg495Cys) single nucleotide variant Inborn genetic diseases [RCV002965378] Chr19:45227762 [GRCh38]
Chr19:45731020 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1684C>G (p.Arg562Gly) single nucleotide variant not provided [RCV002671120] Chr19:45224813 [GRCh38]
Chr19:45728071 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1270-15C>T single nucleotide variant not provided [RCV002726093] Chr19:45228281 [GRCh38]
Chr19:45731539 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.1689C>T (p.Val563=) single nucleotide variant not provided [RCV003072543] Chr19:45224808 [GRCh38]
Chr19:45728066 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.1592C>T (p.Ala531Val) single nucleotide variant Inborn genetic diseases [RCV003172922] Chr19:45224905 [GRCh38]
Chr19:45728163 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1271C>T (p.Ala424Val) single nucleotide variant Inborn genetic diseases [RCV003212720] Chr19:45228265 [GRCh38]
Chr19:45731523 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1426C>T (p.Arg476Trp) single nucleotide variant Inborn genetic diseases [RCV003180285] Chr19:45228020 [GRCh38]
Chr19:45731278 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1291C>G (p.Leu431Val) single nucleotide variant Inborn genetic diseases [RCV003207166] Chr19:45228245 [GRCh38]
Chr19:45731503 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.1745G>A (p.Arg582Gln) single nucleotide variant Inborn genetic diseases [RCV003345043] Chr19:45218294 [GRCh38]
Chr19:45721552 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.2131G>A (p.Val711Met) single nucleotide variant Inborn genetic diseases [RCV003386314] Chr19:45213347 [GRCh38]
Chr19:45716605 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.2366G>A (p.Arg789Gln) single nucleotide variant not provided [RCV003425257] Chr19:45213112 [GRCh38]
Chr19:45716370 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.326G>A (p.Arg109Gln) single nucleotide variant not provided [RCV003407030] Chr19:45238720 [GRCh38]
Chr19:45741978 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.2388G>A (p.Ala796=) single nucleotide variant not provided [RCV003545668] Chr19:45213090 [GRCh38]
Chr19:45716348 [GRCh37]
Chr19:19q13.32		 benign
NM_001382422.1(EXOC3L2):c.1311C>T (p.Asp437=) single nucleotide variant not provided [RCV003739417] Chr19:45228225 [GRCh38]
Chr19:45731483 [GRCh37]
Chr19:19q13.32		 benign
NM_001382422.1(EXOC3L2):c.1998+17G>C single nucleotide variant not provided [RCV003703597] Chr19:45217511 [GRCh38]
Chr19:45720769 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.1353G>T (p.Leu451=) single nucleotide variant not provided [RCV003726809] Chr19:45228183 [GRCh38]
Chr19:45731441 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.1998+10G>A single nucleotide variant not provided [RCV003667983] Chr19:45217518 [GRCh38]
Chr19:45720776 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.1999-20G>A single nucleotide variant not provided [RCV003842397] Chr19:45216214 [GRCh38]
Chr19:45719472 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.2365C>T (p.Arg789Trp) single nucleotide variant not provided [RCV003728723] Chr19:45213113 [GRCh38]
Chr19:45716371 [GRCh37]
Chr19:19q13.32		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:594
Count of miRNA genes:267
Interacting mature miRNAs:272
Transcripts:ENST00000252482, ENST00000413988
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH102539  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,720,092 - 45,720,175UniSTSGRCh37
Build 361950,411,932 - 50,412,015RGDNCBI36
Celera1942,525,665 - 42,525,748RGD
Cytogenetic Map19q13.32UniSTS
HuRef1942,152,088 - 42,152,171UniSTS
GeneMap99-GB4 RH Map19253.85UniSTS
XTP7__4915  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,715,726 - 45,716,531UniSTSGRCh37
Build 361950,407,566 - 50,408,371RGDNCBI36
Celera1942,521,299 - 42,522,104RGD
HuRef1942,147,745 - 42,148,550UniSTS
SHGC-67307  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map4q13.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map5q22.1UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p36.21UniSTS
TNG Radiation Hybrid Map41213.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 92 60 884 2 221 2 138 24 132 92 310 694 210 35
Low 2098 1951 531 381 271 220 3339 1491 973 35 833 537 161 994 2180
Below cutoff 26 945 26 26 762 25 573 612 2386 2 1 568

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000413988   ⟹   ENSP00000400713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1945,212,370 - 45,245,407 (-)Ensembl
RefSeq Acc Id: NM_001382422   ⟹   NP_001369351
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,212,370 - 45,245,407 (-)NCBI
T2T-CHM13v2.01948,039,015 - 48,072,079 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001369351 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI04948 (Get FASTA)   NCBI Sequence Viewer  
  AAI04950 (Get FASTA)   NCBI Sequence Viewer  
  AAO85464 (Get FASTA)   NCBI Sequence Viewer  
  BAC04175 (Get FASTA)   NCBI Sequence Viewer  
  EAW57331 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000400713
  ENSP00000400713.2
GenBank Protein Q2M3D2 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001369351   ⟸   NM_001382422
- UniProtKB: A0A1C7CYX0 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000400713   ⟸   ENST00000413988

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q2M3D2-F1-model_v2 AlphaFold Q2M3D2 1-409 view protein structure

Promoters
RGD ID:7240393
Promoter ID:EPDNEW_H25941
Type:initiation region
Name:EXOC3L2_1
Description:exocyst complex component 3 like 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
GRCh381945,231,876 - 45,231,936EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30162 AgrOrtholog
COSMIC EXOC3L2 COSMIC
Ensembl Genes ENSG00000283632 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000413988 ENTREZGENE
  ENST00000413988.3 UniProtKB/TrEMBL
Gene3D-CATH 1.10.357.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000283632 GTEx
HGNC ID HGNC:30162 ENTREZGENE
Human Proteome Map EXOC3L2 Human Proteome Map
InterPro EXOC3/Sec6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EXOC3/Sec6_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 90332 ENTREZGENE
OMIM 616927 OMIM
PANTHER EXOCYST COMPLEX COMPONENT 3-LIKE 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21292 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Sec6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162385462 PharmGKB
UniProt A0A1C7CYX0 ENTREZGENE, UniProtKB/TrEMBL
  EX3L2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q8N9W2 UniProtKB/Swiss-Prot
  Q96GV2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 EXOC3L2  exocyst complex component 3 like 2    exocyst complex component 3-like 2  Symbol and/or name change 5135510 APPROVED