GABARAPL2 (GABA type A receptor associated protein like 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Gene: GABARAPL2 (GABA type A receptor associated protein like 2) Homo sapiens
Analyze
Symbol: GABARAPL2
Name: GABA type A receptor associated protein like 2
RGD ID: 735450
HGNC Page HGNC:13291
Description: Enables phosphatidylethanolamine binding activity and ubiquitin protein ligase binding activity. Involved in negative regulation of proteasomal protein catabolic process and protein localization to endoplasmic reticulum. Located in Golgi membrane and autophagosome membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ATG8; ATG8C; GABA(A) receptor-associated protein like 2; GABA(A) receptor-associated protein-like 2; gamma-aminobutyric acid receptor-associated protein-like 2; ganglioside expression factor 2; GATE-16; GATE16; GEF-2; GEF2; general protein transport factor p16; golgi-associated ATPase enhancer of 16 kDa; MAP1 light chain 3 related protein; MAP1 light chain 3-related protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100286746  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381675,566,379 - 75,577,881 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1675,566,375 - 75,577,881 (+)EnsemblGRCh38hg38GRCh38
GRCh371675,600,277 - 75,611,779 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361674,157,750 - 74,169,280 (+)NCBINCBI36Build 36hg18NCBI36
Build 341674,157,749 - 74,169,279NCBI
Celera1659,894,551 - 59,906,124 (+)NCBICelera
Cytogenetic Map16q23.1NCBI
HuRef1661,353,919 - 61,365,449 (+)NCBIHuRef
CHM1_11677,012,617 - 77,024,147 (+)NCBICHM1_1
T2T-CHM13v2.01681,614,626 - 81,626,171 (+)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

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
autophagy pathway  (IEA,IMP,TAS)

References

References - curated
# Reference Title Reference Citation
1. Network organization of the human autophagy system. Behrends C, etal., Nature. 2010 Jul 1;466(7302):68-76. Epub 2010 Jun 20.
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. LC3 conjugation system in mammalian autophagy. Tanida I, etal., Int J Biochem Cell Biol. 2004 Dec;36(12):2503-18.
5. Cloning, expression patterns, and chromosome localization of three human and two mouse homologues of GABA(A) receptor-associated protein. Xin Y, etal., Genomics 2001 Jun 15;74(3):408-13.
Additional References at PubMed
PMID:10747018   PMID:11076863   PMID:11096062   PMID:11146101   PMID:11256614   PMID:11825910   PMID:11890701   PMID:12473658   PMID:12477932   PMID:12507496   PMID:12581858   PMID:15169837  
PMID:15489334   PMID:15489336   PMID:15604093   PMID:16169070   PMID:16189514   PMID:16303767   PMID:16381901   PMID:17353931   PMID:17580304   PMID:18187620   PMID:18768753   PMID:18776740  
PMID:19056683   PMID:19250911   PMID:19322201   PMID:19533740   PMID:19549685   PMID:19635843   PMID:19844255   PMID:20010802   PMID:20010805   PMID:20029029   PMID:20200478   PMID:20468064  
PMID:21177865   PMID:21383079   PMID:21460636   PMID:21497758   PMID:21516116   PMID:21617041   PMID:21669198   PMID:21684337   PMID:21832049   PMID:21873635   PMID:21900206   PMID:21988832  
PMID:22120110   PMID:22354992   PMID:22421968   PMID:22470510   PMID:22885598   PMID:22959883   PMID:23043107   PMID:23112293   PMID:23142642   PMID:23891751   PMID:24089205   PMID:24269818  
PMID:24550385   PMID:24582747   PMID:24668264   PMID:24747438   PMID:25086665   PMID:25127057   PMID:25181299   PMID:25416956   PMID:25684205   PMID:25771791   PMID:26040720   PMID:26284781  
PMID:26347139   PMID:26451915   PMID:26902585   PMID:27133164   PMID:27764541   PMID:27879200   PMID:28253953   PMID:28287329   PMID:28298427   PMID:28512061   PMID:28514442   PMID:28712572  
PMID:28729737   PMID:29038162   PMID:29149599   PMID:29150431   PMID:29230017   PMID:29251248   PMID:29420192   PMID:29426817   PMID:29496607   PMID:29544880   PMID:29867141   PMID:30217973  
PMID:30218067   PMID:30282803   PMID:30990354   PMID:31006537   PMID:31006538   PMID:31213539   PMID:31515488   PMID:31536960   PMID:31685529   PMID:31723608   PMID:31960529   PMID:31971854  
PMID:31980649   PMID:32094251   PMID:32296183   PMID:32296703   PMID:32437499   PMID:32640226   PMID:32685442   PMID:32807901   PMID:33144569   PMID:33374830   PMID:33436498   PMID:33545068  
PMID:33845085   PMID:33845483   PMID:33909989   PMID:33961781   PMID:34836490   PMID:34929165   PMID:35258397   PMID:35271311   PMID:35337019   PMID:35366418   PMID:35831314   PMID:35932293  
PMID:36215168   PMID:37219487  


Genomics

Comparative Map Data
GABARAPL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381675,566,379 - 75,577,881 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1675,566,375 - 75,577,881 (+)EnsemblGRCh38hg38GRCh38
GRCh371675,600,277 - 75,611,779 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361674,157,750 - 74,169,280 (+)NCBINCBI36Build 36hg18NCBI36
Build 341674,157,749 - 74,169,279NCBI
Celera1659,894,551 - 59,906,124 (+)NCBICelera
Cytogenetic Map16q23.1NCBI
HuRef1661,353,919 - 61,365,449 (+)NCBIHuRef
CHM1_11677,012,617 - 77,024,147 (+)NCBICHM1_1
T2T-CHM13v2.01681,614,626 - 81,626,171 (+)NCBIT2T-CHM13v2.0
Gabarapl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398112,667,335 - 112,679,547 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8112,667,335 - 112,680,244 (+)EnsemblGRCm39 Ensembl
GRCm388111,940,703 - 111,952,915 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8111,940,703 - 111,953,612 (+)EnsemblGRCm38mm10GRCm38
MGSCv378114,464,618 - 114,476,480 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368114,827,395 - 114,842,055 (+)NCBIMGSCv36mm8
Celera8116,169,489 - 116,181,347 (+)NCBICelera
Cytogenetic Map8E1NCBI
cM Map858.19NCBI
Gabarapl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21939,910,572 - 39,921,408 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1939,910,534 - 39,924,628 (+)EnsemblmRatBN7.2 Ensembl
mRatBN7.2 Ensembl889,246,195 - 89,247,139 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1946,774,406 - 46,785,021 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01947,427,736 - 47,438,351 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01949,673,177 - 49,684,013 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01944,164,935 - 44,175,771 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1944,164,935 - 44,175,770 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01954,972,028 - 54,982,864 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41941,880,238 - 41,891,074 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11941,885,118 - 41,895,954 (+)NCBI
Celera1939,271,261 - 39,281,863 (+)NCBICelera
Cytogenetic Map19q12NCBI
Gabarapl2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554841,991,020 - 2,004,925 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554841,991,020 - 2,004,925 (-)NCBIChiLan1.0ChiLan1.0
GABARAPL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan11691,206,742 - 91,218,301 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01656,135,482 - 56,147,046 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11675,483,459 - 75,495,019 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1675,483,459 - 75,495,019 (+)Ensemblpanpan1.1panPan2
GABARAPL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1575,230,214 - 75,240,724 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl575,230,243 - 75,240,730 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha575,207,568 - 75,218,596 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0575,544,321 - 75,555,339 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl575,544,322 - 75,554,830 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1575,480,287 - 75,491,305 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0575,315,531 - 75,326,538 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0575,806,854 - 75,817,870 (-)NCBIUU_Cfam_GSD_1.0
Gabarapl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934935,339,865 - 35,350,864 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647524,238,209 - 24,249,557 (+)EnsemblSpeTri2.0
SpeTri2.0NW_00493647524,238,262 - 24,249,249 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GABARAPL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl612,107,422 - 12,132,991 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1612,122,219 - 12,132,986 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2611,963,183 - 11,973,930 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GABARAPL2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1561,053,283 - 61,078,675 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl561,053,262 - 61,066,083 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604714,980,713 - 15,005,010 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gabarapl2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474611,393,439 - 11,405,126 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474611,393,439 - 11,405,152 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GABARAPL2
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1 copy number loss See cases [RCV000053356] Chr16:69918076..76723348 [GRCh38]
Chr16:69951979..76757245 [GRCh37]
Chr16:68509480..75314746 [NCBI36]
Chr16:16q22.1-23.1
pathogenic
GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1 copy number loss See cases [RCV000053357] Chr16:73049467..82576326 [GRCh38]
Chr16:73083366..82609931 [GRCh37]
Chr16:71640867..81167432 [NCBI36]
Chr16:16q22.3-23.3
pathogenic
GRCh38/hg38 16q23.1(chr16:75163906-78064640)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053358]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053358]|See cases [RCV000053358] Chr16:75163906..78064640 [GRCh38]
Chr16:75197804..78098537 [GRCh37]
Chr16:73755305..76656038 [NCBI36]
Chr16:16q23.1
pathogenic
GRCh38/hg38 16q23.1(chr16:75485676-75603079)x3 copy number gain See cases [RCV000053894] Chr16:75485676..75603079 [GRCh38]
Chr16:75519574..75636977 [GRCh37]
Chr16:74077075..74194478 [NCBI36]
Chr16:16q23.1
uncertain significance
GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1 copy number loss See cases [RCV000133814] Chr16:70414573..84908120 [GRCh38]
Chr16:70448476..84941726 [GRCh37]
Chr16:69005977..83499227 [NCBI36]
Chr16:16q22.1-24.1
pathogenic
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1
pathogenic
GRCh38/hg38 16q23.1(chr16:75541502-79154140)x1 copy number loss See cases [RCV000135449] Chr16:75541502..79154140 [GRCh38]
Chr16:75575400..79188037 [GRCh37]
Chr16:74132901..77745538 [NCBI36]
Chr16:16q23.1
pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.1(chr16:74811982-75698467)x3 copy number gain See cases [RCV000139130] Chr16:74811982..75698467 [GRCh38]
Chr16:74845880..75732365 [GRCh37]
Chr16:73403381..74289866 [NCBI36]
Chr16:16q23.1
uncertain significance
GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3 copy number gain See cases [RCV000142038] Chr16:69053457..83274681 [GRCh38]
Chr16:69087360..83308286 [GRCh37]
Chr16:67644861..81865787 [NCBI36]
Chr16:16q22.1-23.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh38/hg38 16q23.1(chr16:75227456-75731127)x3 copy number gain See cases [RCV000143189] Chr16:75227456..75731127 [GRCh38]
Chr16:75261354..75765025 [GRCh37]
Chr16:73818855..74322526 [NCBI36]
Chr16:16q23.1
uncertain significance
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 copy number gain See cases [RCV000143742] Chr16:65957829..83611443 [GRCh38]
Chr16:65991732..83645048 [GRCh37]
Chr16:64549233..82202549 [NCBI36]
Chr16:16q21-23.3
pathogenic
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3
uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q23.1(chr16:74150909-77077326)x1 copy number loss See cases [RCV000512133] Chr16:74150909..77077326 [GRCh37]
Chr16:16q23.1
uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q23.1(chr16:75428474-75729424)x3 copy number gain not provided [RCV000739215] Chr16:75428474..75729424 [GRCh37]
Chr16:16q23.1
benign
GRCh37/hg19 16q23.1(chr16:75513907-75626027)x3 copy number gain not provided [RCV000849205] Chr16:75513907..75626027 [GRCh37]
Chr16:16q23.1
uncertain significance
GRCh37/hg19 16q22.2-23.1(chr16:72677179-77439111)x1 copy number loss not provided [RCV000847084] Chr16:72677179..77439111 [GRCh37]
Chr16:16q22.2-23.1
uncertain significance
GRCh37/hg19 16q23.1(chr16:75275780-75684031)x1 copy number loss not provided [RCV000846687] Chr16:75275780..75684031 [GRCh37]
Chr16:16q23.1
uncertain significance
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3
not provided
GRCh37/hg19 16q23.1(chr16:75554118-75823234)x3 copy number gain not provided [RCV001259870] Chr16:75554118..75823234 [GRCh37]
Chr16:16q23.1
uncertain significance
GRCh37/hg19 16q23.1(chr16:75281963-75665698)x3 copy number gain not provided [RCV001259871] Chr16:75281963..75665698 [GRCh37]
Chr16:16q23.1
uncertain significance
NC_000016.9:g.(?_75428968)_(75690509_?)del deletion not provided [RCV002239772] Chr16:75428968..75690509 [GRCh37]
Chr16:16q23.1
pathogenic|uncertain significance
NC_000016.9:g.(?_75573892)_(75690509_?)del deletion Joubert syndrome 20 [RCV002044963] Chr16:75573892..75690509 [GRCh37]
Chr16:16q23.1
pathogenic
NC_000016.9:g.(?_75327850)_(75664426_?)dup duplication Joubert syndrome 20 [RCV001875411] Chr16:75327850..75664426 [GRCh37]
Chr16:16q23.1
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
NC_000016.9:g.(?_75589682)_(75690509_?)dup duplication Joubert syndrome 20 [RCV003122449] Chr16:75589682..75690509 [GRCh37]
Chr16:16q23.1
uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 copy number gain Syndromic anorectal malformation [RCV002286607] Chr16:71641395..90161959 [GRCh37]
Chr16:16q22.2-24.3
likely pathogenic
GRCh37/hg19 16q22.3-23.1(chr16:73673334-76105189)x4 copy number gain not provided [RCV002475008] Chr16:73673334..76105189 [GRCh37]
Chr16:16q22.3-23.1
uncertain significance
GRCh37/hg19 16q22.3-23.1(chr16:73858079-75855162)x1 copy number loss not provided [RCV002475848] Chr16:73858079..75855162 [GRCh37]
Chr16:16q22.3-23.1
uncertain significance
GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1 copy number loss not provided [RCV002475774] Chr16:73673334..78137887 [GRCh37]
Chr16:16q22.3-23.1
uncertain significance
NM_007285.7(GABARAPL2):c.122T>C (p.Ile41Thr) single nucleotide variant Inborn genetic diseases [RCV003210359] Chr16:75568068 [GRCh38]
Chr16:75601966 [GRCh37]
Chr16:16q23.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:840
Count of miRNA genes:494
Interacting mature miRNAs:524
Transcripts:ENST00000037243, ENST00000563744, ENST00000565057, ENST00000565985, ENST00000568455
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
D1S3415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,611,599 - 75,611,727UniSTSGRCh37
Build 361674,169,100 - 74,169,228RGDNCBI36
Celera1659,905,944 - 59,906,072RGD
Cytogenetic Map16q22.1UniSTS
HuRef1661,365,269 - 61,365,397UniSTS
Whitehead-YAC Contig Map1 UniSTS
NIB1153  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,611,539 - 75,611,713UniSTSGRCh37
Build 361674,169,040 - 74,169,214RGDNCBI36
Celera1659,905,884 - 59,906,058RGD
Cytogenetic Map16q22.1UniSTS
HuRef1661,365,209 - 61,365,383UniSTS
GeneMap99-GB4 RH Map16446.85UniSTS
Whitehead-RH Map16321.4UniSTS
NCBI RH Map16584.6UniSTS
D20S1078  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2439 2963 1698 597 1950 438 4357 2170 3734 416 1458 1612 174 1 1204 2788 6 2
Low 28 28 27 1 27 27 3 2 1
Below cutoff

Sequence


RefSeq Acc Id: ENST00000037243   ⟹   ENSP00000037243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,566,379 - 75,577,881 (+)Ensembl
RefSeq Acc Id: ENST00000563744   ⟹   ENSP00000457448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,566,389 - 75,577,881 (+)Ensembl
RefSeq Acc Id: ENST00000565057   ⟹   ENSP00000456773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,566,375 - 75,568,405 (+)Ensembl
RefSeq Acc Id: ENST00000565985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,575,608 - 75,577,881 (+)Ensembl
RefSeq Acc Id: ENST00000568455   ⟹   ENSP00000455606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,566,598 - 75,577,530 (+)Ensembl
RefSeq Acc Id: NM_007285   ⟹   NP_009216
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381675,566,379 - 75,577,881 (+)NCBI
GRCh371675,600,249 - 75,611,779 (+)ENTREZGENE
Build 361674,157,750 - 74,169,280 (+)NCBI Archive
HuRef1661,353,919 - 61,365,449 (+)ENTREZGENE
CHM1_11677,012,617 - 77,024,147 (+)NCBI
T2T-CHM13v2.01681,614,626 - 81,626,171 (+)NCBI
Sequence:
RefSeq Acc Id: NP_009216   ⟸   NM_007285
- UniProtKB: Q9DCP8 (UniProtKB/Swiss-Prot),   Q6FG91 (UniProtKB/Swiss-Prot),   O08765 (UniProtKB/Swiss-Prot),   Q9UQF7 (UniProtKB/Swiss-Prot),   P60520 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000037243   ⟸   ENST00000037243
RefSeq Acc Id: ENSP00000457448   ⟸   ENST00000563744
RefSeq Acc Id: ENSP00000456773   ⟸   ENST00000565057
RefSeq Acc Id: ENSP00000455606   ⟸   ENST00000568455

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P60520-F1-model_v2 AlphaFold P60520 1-117 view protein structure

Promoters
RGD ID:6793135
Promoter ID:HG_KWN:24283
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_007285,   UC010CGY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361674,157,424 - 74,157,924 (+)MPROMDB
RGD ID:6853196
Promoter ID:EP74419
Type:multiple initiation site
Name:HS_GABARAPL2_1
Description:GABA(A) receptor-associated protein-like 2.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #1 of 2; 5' exon 1; site 1.; see alsoEP74420  
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361674,157,778 - 74,157,838EPD
RGD ID:6853198
Promoter ID:EP74420
Type:initiation region
Name:HS_GABARAPL2_2
Description:GABA(A) receptor-associated protein-like 2.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #2 of 2; 5' exon 1; site 2; major promoter.; see alsoEP74419  
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361674,157,831 - 74,157,891EPD
RGD ID:7232879
Promoter ID:EPDNEW_H22184
Type:initiation region
Name:GABARAPL2_1
Description:GABA type A receptor associated protein 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
GRCh381675,566,379 - 75,566,439EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13291 AgrOrtholog
COSMIC GABARAPL2 COSMIC
Ensembl Genes ENSG00000034713 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000037243 ENTREZGENE
  ENSP00000037243.2 UniProtKB/Swiss-Prot
  ENSP00000455606.1 UniProtKB/TrEMBL
  ENSP00000456773.1 UniProtKB/TrEMBL
  ENSP00000457448.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000037243 ENTREZGENE
  ENST00000037243.7 UniProtKB/Swiss-Prot
  ENST00000563744.1 UniProtKB/TrEMBL
  ENST00000565057.5 UniProtKB/TrEMBL
  ENST00000568455.1 UniProtKB/TrEMBL
GTEx ENSG00000034713 GTEx
HGNC ID HGNC:13291 ENTREZGENE
Human Proteome Map GABARAPL2 Human Proteome Map
InterPro Atg8-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11345 UniProtKB/Swiss-Prot
NCBI Gene 11345 ENTREZGENE
OMIM 607452 OMIM
PANTHER GAMMA-AMINOBUTYRIC ACID RECEPTOR-ASSOCIATED PROTEIN-LIKE 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10969 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Atg8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28482 PharmGKB
Superfamily-SCOP SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt GBRL2_HUMAN UniProtKB/Swiss-Prot
  H3BQ50_HUMAN UniProtKB/TrEMBL
  H3BSM5_HUMAN UniProtKB/TrEMBL
  H3BU36_HUMAN UniProtKB/TrEMBL
  O08765 ENTREZGENE
  P60520 ENTREZGENE
  Q6FG91 ENTREZGENE
  Q9DCP8 ENTREZGENE
  Q9UQF7 ENTREZGENE
UniProt Secondary O08765 UniProtKB/Swiss-Prot
  Q6FG91 UniProtKB/Swiss-Prot
  Q9DCP8 UniProtKB/Swiss-Prot
  Q9UQF7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 GABARAPL2  GABA type A receptor associated protein like 2    GABA(A) receptor-associated protein like 2  Symbol and/or name change 5135510 APPROVED
2015-07-14 GABARAPL2  GABA(A) receptor-associated protein like 2    GABA(A) receptor-associated protein-like 2  Symbol and/or name change 5135510 APPROVED