RETREG2 (reticulophagy regulator family member 2) - Rat Genome Database

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Gene: RETREG2 (reticulophagy regulator family member 2) Homo sapiens
Analyze
Symbol: RETREG2
Name: reticulophagy regulator family member 2
RGD ID: 1315689
HGNC Page HGNC:28450
Description: Predicted to enable endoplasmic reticulum-autophagosome adaptor activity. Predicted to be involved in autophagy. Predicted to act upstream of or within collagen catabolic process; endoplasmic reticulum organization; and reticulophagy. Predicted to be located in endoplasmic reticulum membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C2orf17; DKFZp686C2379; FAM134A; family with sequence similarity 134 member A; family with sequence similarity 134, member A; hypothetical protein LOC79137; MAG-2; metastasis associated gene-2; MGC3035; reticulophagy regulator 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,178,275 - 219,185,475 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,176,225 - 219,185,475 (+)EnsemblGRCh38hg38GRCh38
GRCh372220,042,997 - 220,050,197 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,751,198 - 219,756,456 (+)NCBINCBI36Build 36hg18NCBI36
Build 342219,868,458 - 219,873,717NCBI
Celera2213,812,655 - 213,819,914 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,896,502 - 211,903,761 (+)NCBIHuRef
CHM1_12220,050,289 - 220,057,534 (+)NCBICHM1_1
T2T-CHM13v2.02219,666,703 - 219,673,910 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Polydactyly  (IAGP)
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:11230166   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16169070   PMID:16303743   PMID:16344560   PMID:17081983   PMID:19212629   PMID:20360068   PMID:21310131   PMID:21873635  
PMID:21900206   PMID:22810586   PMID:26040720   PMID:26496610   PMID:28514442   PMID:29097687   PMID:29117863   PMID:31741433   PMID:33845483   PMID:33961781   PMID:34079125   PMID:35271311  
PMID:35944360   PMID:36168628   PMID:36215168  


Genomics

Comparative Map Data
RETREG2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,178,275 - 219,185,475 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,176,225 - 219,185,475 (+)EnsemblGRCh38hg38GRCh38
GRCh372220,042,997 - 220,050,197 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,751,198 - 219,756,456 (+)NCBINCBI36Build 36hg18NCBI36
Build 342219,868,458 - 219,873,717NCBI
Celera2213,812,655 - 213,819,914 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,896,502 - 211,903,761 (+)NCBIHuRef
CHM1_12220,050,289 - 220,057,534 (+)NCBICHM1_1
T2T-CHM13v2.02219,666,703 - 219,673,910 (+)NCBIT2T-CHM13v2.0
Retreg2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39175,119,432 - 75,124,553 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl175,119,422 - 75,124,557 (+)EnsemblGRCm39 Ensembl
GRCm38175,142,786 - 75,147,909 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl175,142,778 - 75,147,913 (+)EnsemblGRCm38mm10GRCm38
MGSCv37175,139,360 - 75,144,483 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36175,025,997 - 75,031,116 (+)NCBIMGSCv36mm8
Celera175,633,759 - 75,638,882 (+)NCBICelera
Cytogenetic Map1C4NCBI
cM Map138.61NCBI
Retreg2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8984,088,935 - 84,095,072 (+)NCBIGRCr8
mRatBN7.2976,640,282 - 76,646,400 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl976,640,319 - 76,646,395 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx985,084,844 - 85,090,691 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0990,213,747 - 90,219,594 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0988,599,948 - 88,605,795 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0982,345,686 - 82,351,800 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl982,345,719 - 82,351,802 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0982,114,958 - 82,120,833 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4974,426,597 - 74,432,831 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1974,573,547 - 74,579,402 (+)NCBI
Celera974,210,785 - 74,216,633 (+)NCBICelera
Cytogenetic Map9q33NCBI
Retreg2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545314,258,523 - 14,263,573 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545314,258,523 - 14,263,573 (-)NCBIChiLan1.0ChiLan1.0
RETREG2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213121,808,710 - 121,814,311 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B121,823,786 - 121,829,042 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B106,435,938 - 106,441,428 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B225,028,498 - 225,034,024 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B225,028,498 - 225,034,024 (+)Ensemblpanpan1.1panPan2
RETREG2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13725,734,960 - 25,740,950 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3725,734,960 - 25,739,808 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3726,560,991 - 26,567,086 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03725,750,371 - 25,756,444 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3725,750,272 - 25,756,207 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13725,654,773 - 25,660,861 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03725,589,905 - 25,595,979 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03725,610,643 - 25,616,732 (+)NCBIUU_Cfam_GSD_1.0
Retreg2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303175,249,891 - 175,255,532 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365691,593,085 - 1,599,437 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365691,593,091 - 1,599,745 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RETREG2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15121,212,881 - 121,218,812 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115121,212,370 - 121,218,796 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215134,249,624 - 134,255,493 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RETREG2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110105,086,367 - 105,091,980 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10105,086,610 - 105,090,896 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604094,305,475 - 94,310,847 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Retreg2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248235,839,760 - 5,844,967 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248235,839,760 - 5,845,053 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RETREG2
9 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1 copy number loss See cases [RCV000052634] Chr2:219081620..225430308 [GRCh38]
Chr2:219946342..226295024 [GRCh37]
Chr2:219654586..226003268 [NCBI36]
Chr2:2q35-36.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3		 pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q35(chr2:219081620-219758878)x3 copy number gain See cases [RCV000138093] Chr2:219081620..219758878 [GRCh38]
Chr2:219946342..220623600 [GRCh37]
Chr2:219654586..220331844 [NCBI36]
Chr2:2q35		 uncertain significance
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
NM_024293.6(RETREG2):c.799A>C (p.Asn267His) single nucleotide variant not specified [RCV004303503] Chr2:219181383 [GRCh38]
Chr2:220046105 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 copy number loss not provided [RCV000585275] Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3		 likely pathogenic
Single allele deletion Polydactyly [RCV000736029] Chr2:219925666..220914504 [GRCh37]
Chr2:2q35		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2q35(chr2:219275536-220266647)x3 copy number gain See cases [RCV000511655] Chr2:219275536..220266647 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1 copy number loss not provided [RCV000682163] Chr2:218813434..227450699 [GRCh37]
Chr2:2q35-36.3		 pathogenic
NC_000002.11:g.(?_219135239)_(220290732_?)del deletion Desmin-related myofibrillar myopathy [RCV000707774] Chr2:219135239..220290732 [GRCh37]
Chr2:2q35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q35(chr2:220046349-220055657)x0 copy number loss not provided [RCV000740895] Chr2:220046349..220055657 [GRCh37]
Chr2:2q35		 benign
NM_024293.6(RETREG2):c.1626G>T (p.Glu542Asp) single nucleotide variant not specified [RCV004295740] Chr2:219182623 [GRCh38]
Chr2:220047345 [GRCh37]
Chr2:2q35		 uncertain significance
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2q35(chr2:219879593-220346596)x3 copy number gain not provided [RCV000847670] Chr2:219879593..220346596 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.1174G>A (p.Val392Met) single nucleotide variant not specified [RCV004300383] Chr2:219182171 [GRCh38]
Chr2:220046893 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35(chr2:216883237-220953003)x3 copy number gain not provided [RCV001007510] Chr2:216883237..220953003 [GRCh37]
Chr2:2q35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1 copy number loss not provided [RCV001259180] Chr2:215122019..220397907 [GRCh37]
Chr2:2q34-35		 likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2q35(chr2:219797684-220088582)x3 copy number gain not provided [RCV001259184] Chr2:219797684..220088582 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) copy number loss not specified [RCV002053285] Chr2:219606537..239217703 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q34-36.1(chr2:215108009-221679980) copy number gain not specified [RCV002053282] Chr2:215108009..221679980 [GRCh37]
Chr2:2q34-36.1		 pathogenic
GRCh37/hg19 2q35(chr2:218210665-220141650) copy number gain not specified [RCV002053284] Chr2:218210665..220141650 [GRCh37]
Chr2:2q35		 uncertain significance
NC_000002.11:g.(?_218999525)_(220435954_?)dup duplication Alacrima, achalasia, and intellectual disability syndrome [RCV001955103]|Paroxysmal nonkinesigenic dyskinesia [RCV001962531] Chr2:218999525..220435954 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.1627C>T (p.Pro543Ser) single nucleotide variant not specified [RCV004263628] Chr2:219182624 [GRCh38]
Chr2:220047346 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_024293.6(RETREG2):c.1297C>G (p.Leu433Val) single nucleotide variant not specified [RCV004353717] Chr2:219182294 [GRCh38]
Chr2:220047016 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.1288G>C (p.Val430Leu) single nucleotide variant not specified [RCV004360378] Chr2:219182285 [GRCh38]
Chr2:220047007 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_024293.6(RETREG2):c.1111C>T (p.Leu371=) single nucleotide variant not provided [RCV003440176] Chr2:219182108 [GRCh38]
Chr2:220046830 [GRCh37]
Chr2:2q35		 likely benign
NM_024293.6(RETREG2):c.1064G>A (p.Arg355Gln) single nucleotide variant not specified [RCV004446036] Chr2:219182061 [GRCh38]
Chr2:220046783 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.1105G>A (p.Glu369Lys) single nucleotide variant not specified [RCV004446037] Chr2:219182102 [GRCh38]
Chr2:220046824 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.1360T>C (p.Cys454Arg) single nucleotide variant not specified [RCV004446042] Chr2:219182357 [GRCh38]
Chr2:220047079 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.1549C>T (p.Pro517Ser) single nucleotide variant not specified [RCV004446044] Chr2:219182546 [GRCh38]
Chr2:220047268 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.185G>A (p.Gly62Asp) single nucleotide variant not specified [RCV004446045] Chr2:219178537 [GRCh38]
Chr2:220043259 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.274C>G (p.Leu92Val) single nucleotide variant not specified [RCV004446048] Chr2:219178626 [GRCh38]
Chr2:220043348 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.698A>C (p.Tyr233Ser) single nucleotide variant not specified [RCV004446053] Chr2:219181119 [GRCh38]
Chr2:220045841 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.703C>T (p.Arg235Cys) single nucleotide variant not specified [RCV004446054] Chr2:219181124 [GRCh38]
Chr2:220045846 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.79G>A (p.Gly27Ser) single nucleotide variant not specified [RCV004446056] Chr2:219178431 [GRCh38]
Chr2:220043153 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.811G>A (p.Gly271Arg) single nucleotide variant not specified [RCV004446057] Chr2:219181395 [GRCh38]
Chr2:220046117 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.868T>A (p.Phe290Ile) single nucleotide variant not specified [RCV004446058] Chr2:219181452 [GRCh38]
Chr2:220046174 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.960T>A (p.Ser320Arg) single nucleotide variant not specified [RCV004446059] Chr2:219181720 [GRCh38]
Chr2:220046442 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.1198C>T (p.Arg400Trp) single nucleotide variant not specified [RCV004446040] Chr2:219182195 [GRCh38]
Chr2:220046917 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.1319G>A (p.Gly440Asp) single nucleotide variant not specified [RCV004446041] Chr2:219182316 [GRCh38]
Chr2:220047038 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.341A>G (p.Tyr114Cys) single nucleotide variant not specified [RCV004446049] Chr2:219178981 [GRCh38]
Chr2:220043703 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3 copy number gain See cases [RCV004442836] Chr2:216815496..242782258 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_024293.6(RETREG2):c.234G>T (p.Lys78Asn) single nucleotide variant not specified [RCV004446047] Chr2:219178586 [GRCh38]
Chr2:220043308 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.460G>A (p.Val154Met) single nucleotide variant not specified [RCV004446051] Chr2:219180150 [GRCh38]
Chr2:220044872 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.1115T>C (p.Leu372Pro) single nucleotide variant not specified [RCV004446038] Chr2:219182112 [GRCh38]
Chr2:220046834 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.442C>T (p.Arg148Trp) single nucleotide variant not specified [RCV004446050] Chr2:219180132 [GRCh38]
Chr2:220044854 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.146T>C (p.Val49Ala) single nucleotide variant not specified [RCV004446043] Chr2:219178498 [GRCh38]
Chr2:220043220 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.203C>T (p.Ala68Val) single nucleotide variant not specified [RCV004446046] Chr2:219178555 [GRCh38]
Chr2:220043277 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.547C>G (p.Pro183Ala) single nucleotide variant not specified [RCV004446052] Chr2:219180237 [GRCh38]
Chr2:220044959 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.704G>A (p.Arg235His) single nucleotide variant not specified [RCV004446055] Chr2:219181125 [GRCh38]
Chr2:220045847 [GRCh37]
Chr2:2q35		 uncertain significance
NM_024293.6(RETREG2):c.1120C>T (p.Arg374Cys) single nucleotide variant not specified [RCV004446039] Chr2:219182117 [GRCh38]
Chr2:220046839 [GRCh37]
Chr2:2q35		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4909
Count of miRNA genes:1196
Interacting mature miRNAs:1566
Transcripts:ENST00000273048, ENST00000420189, ENST00000430297, ENST00000430747, ENST00000443757, ENST00000452022, ENST00000452293, ENST00000458520, ENST00000465672, ENST00000481925
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
IB2434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,047,810 - 220,048,112UniSTSGRCh37
Build 362219,756,054 - 219,756,356RGDNCBI36
Celera2213,817,526 - 213,817,828RGD
Cytogenetic Map2q35UniSTS
HuRef2211,901,373 - 211,901,675UniSTS
GeneMap99-GB4 RH Map2682.63UniSTS
Whitehead-RH Map21011.0UniSTS
RH66353  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,044,900 - 220,045,457UniSTSGRCh37
Celera2213,814,616 - 213,815,173UniSTS
Cytogenetic Map2q35UniSTS
HuRef2211,898,463 - 211,899,020UniSTS
GeneMap99-GB4 RH Map2689.78UniSTS


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 2437 2624 1706 605 1950 446 4050 1626 3679 416 1459 1611 174 1 1204 2481 5 2
Low 2 367 20 19 1 19 307 571 55 3 1 2 1 307 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001321109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC068946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC115412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC141851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG700888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG723788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU615764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ782959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA172039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY002817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000273048   ⟹   ENSP00000273048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,178,227 - 219,183,492 (+)Ensembl
RefSeq Acc Id: ENST00000420189   ⟹   ENSP00000411247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,181,678 - 219,183,800 (+)Ensembl
RefSeq Acc Id: ENST00000430297   ⟹   ENSP00000395249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,178,275 - 219,185,475 (+)Ensembl
RefSeq Acc Id: ENST00000430747   ⟹   ENSP00000399261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,178,714 - 219,180,750 (+)Ensembl
RefSeq Acc Id: ENST00000443757   ⟹   ENSP00000414547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,177,923 - 219,180,751 (+)Ensembl
RefSeq Acc Id: ENST00000452022   ⟹   ENSP00000391284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,178,727 - 219,181,663 (+)Ensembl
RefSeq Acc Id: ENST00000452293   ⟹   ENSP00000394606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,178,277 - 219,180,754 (+)Ensembl
RefSeq Acc Id: ENST00000458520   ⟹   ENSP00000403898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,176,225 - 219,182,120 (+)Ensembl
RefSeq Acc Id: ENST00000465672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,178,986 - 219,180,239 (+)Ensembl
RefSeq Acc Id: ENST00000481925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,180,668 - 219,181,693 (+)Ensembl
RefSeq Acc Id: NM_001321109   ⟹   NP_001308038
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,178,275 - 219,185,475 (+)NCBI
CHM1_12220,050,262 - 220,057,534 (+)NCBI
T2T-CHM13v2.02219,666,703 - 219,673,910 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321110   ⟹   NP_001308039
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,178,709 - 219,185,475 (+)NCBI
CHM1_12220,050,781 - 220,057,534 (+)NCBI
T2T-CHM13v2.02219,667,137 - 219,673,910 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024293   ⟹   NP_077269
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,178,275 - 219,185,475 (+)NCBI
GRCh372220,042,939 - 220,050,197 (+)RGD
Build 362219,751,198 - 219,756,456 (+)NCBI Archive
Celera2213,812,655 - 213,819,914 (+)RGD
HuRef2211,896,502 - 211,903,761 (+)ENTREZGENE
CHM1_12220,050,262 - 220,057,534 (+)NCBI
T2T-CHM13v2.02219,666,703 - 219,673,910 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005246848   ⟹   XP_005246905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,178,275 - 219,185,475 (+)NCBI
GRCh372220,042,939 - 220,050,197 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054343865   ⟹   XP_054199840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,666,703 - 219,673,910 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_077269   ⟸   NM_024293
- Peptide Label: isoform 1
- UniProtKB: Q6P1P5 (UniProtKB/Swiss-Prot),   Q9H0K7 (UniProtKB/Swiss-Prot),   Q8NC44 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005246905   ⟸   XM_005246848
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001308038   ⟸   NM_001321109
- Peptide Label: isoform 2 precursor
- UniProtKB: B3KR51 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308039   ⟸   NM_001321110
- Peptide Label: isoform 3 precursor
- UniProtKB: B3KR51 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000394606   ⟸   ENST00000452293
RefSeq Acc Id: ENSP00000391284   ⟸   ENST00000452022
RefSeq Acc Id: ENSP00000414547   ⟸   ENST00000443757
RefSeq Acc Id: ENSP00000403898   ⟸   ENST00000458520
RefSeq Acc Id: ENSP00000273048   ⟸   ENST00000273048
RefSeq Acc Id: ENSP00000395249   ⟸   ENST00000430297
RefSeq Acc Id: ENSP00000399261   ⟸   ENST00000430747
RefSeq Acc Id: ENSP00000411247   ⟸   ENST00000420189
RefSeq Acc Id: XP_054199840   ⟸   XM_054343865
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NC44-F1-model_v2 AlphaFold Q8NC44 1-543 view protein structure

Promoters
RGD ID:6862878
Promoter ID:EPDNEW_H4604
Type:initiation region
Name:FAM134A_1
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
GRCh382219,178,275 - 219,178,335EPDNEW
RGD ID:6797460
Promoter ID:HG_KWN:37317
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000336151
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,749,079 - 219,749,579 (+)MPROMDB
RGD ID:6797462
Promoter ID:HG_KWN:37319
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000336147,   OTTHUMT00000336152,   OTTHUMT00000336153,   OTTHUMT00000336154,   OTTHUMT00000336155,   OTTHUMT00000336156,   UC010FWC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,750,916 - 219,751,767 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28450 AgrOrtholog
COSMIC RETREG2 COSMIC
Ensembl Genes ENSG00000144567 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000273048.2 UniProtKB/TrEMBL
  ENST00000420189.1 UniProtKB/TrEMBL
  ENST00000430297 ENTREZGENE
  ENST00000430297.7 UniProtKB/Swiss-Prot
  ENST00000452022.1 UniProtKB/TrEMBL
  ENST00000452293.5 UniProtKB/TrEMBL
  ENST00000458520.5 UniProtKB/TrEMBL
GTEx ENSG00000144567 GTEx
HGNC ID HGNC:28450 ENTREZGENE
Human Proteome Map RETREG2 Human Proteome Map
KEGG Report hsa:79137 UniProtKB/Swiss-Prot
NCBI Gene 79137 ENTREZGENE
PANTHER ADP-RIBOSYLATION-LIKE FACTOR 6-INTERACTING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RETICULOPHAGY REGULATOR 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162386165 PharmGKB
UniProt B3KR51 ENTREZGENE, UniProtKB/TrEMBL
  C9J3K5_HUMAN UniProtKB/TrEMBL
  C9JIF3_HUMAN UniProtKB/TrEMBL
  F8WAL5_HUMAN UniProtKB/TrEMBL
  F8WE68_HUMAN UniProtKB/TrEMBL
  H7C3D5_HUMAN UniProtKB/TrEMBL
  Q6P1P5 ENTREZGENE
  Q8NC44 ENTREZGENE
  Q9H0K7 ENTREZGENE
  RETR2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q6P1P5 UniProtKB/Swiss-Prot
  Q9H0K7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-03-21 RETREG2  reticulophagy regulator family member 2  FAM134A  family with sequence similarity 134 member A  Symbol and/or name change 5135510 APPROVED
2015-11-24 FAM134A  family with sequence similarity 134 member A    family with sequence similarity 134, member A  Symbol and/or name change 5135510 APPROVED