ERLIN2 (ER lipid raft associated 2) - Rat Genome Database

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Gene: ERLIN2 (ER lipid raft associated 2) Homo sapiens
Analyze
Symbol: ERLIN2
Name: ER lipid raft associated 2
RGD ID: 1350824
HGNC Page HGNC
Description: Enables ubiquitin protein ligase binding activity. Involved in SREBP signaling pathway; negative regulation of lipid biosynthetic process; and ubiquitin-dependent ERAD pathway. Located in several cellular components, including cytosol; endoplasmic reticulum membrane; and membrane raft. Part of protein-containing complex. Implicated in hereditary spastic paraplegia 18.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C8orf2; endoplasmic reticulum lipid raft-associated protein 2; Erlin-2; MGC87072; NET32; spastic paraplegia 18 (autosomal dominant); SPFH domain family, member 2; SPFH domain-containing protein 2; SPFH2; SPG18; stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2
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
GRCh38.p13 Ensembl837,736,601 - 37,758,422 (+)EnsemblGRCh38hg38GRCh38
GRCh38837,736,627 - 37,758,422 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37837,594,152 - 37,615,940 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36837,713,255 - 37,734,477 (+)NCBINCBI36hg18NCBI36
Build 34837,713,306 - 37,734,476NCBI
Celera836,546,048 - 36,567,268 (+)NCBI
Cytogenetic Map8p11.23NCBI
HuRef836,128,897 - 36,150,116 (+)NCBIHuRef
CHM1_1837,795,543 - 37,816,776 (+)NCBICHM1_1
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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal lumbar spine morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal upper motor neuron morphology  (IAGP)
Abnormality of the bladder  (IAGP)
Abnormality of the pinna  (IAGP)
Absent speech  (IAGP)
Ankle clonus  (IAGP)
Ankle flexion contracture  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Bilateral external ear deformity  (IAGP)
Bilateral wrist flexion contracture  (IAGP)
Delayed ability to walk  (IAGP)
Developmental regression  (IAGP)
Distal muscle weakness  (IAGP)
Dysphagia  (IAGP)
Elbow flexion contracture  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Flexion contracture of toe  (IAGP)
Gait disturbance  (IAGP)
Gait imbalance  (IAGP)
Global developmental delay  (IAGP)
Hand tremor  (IAGP)
High palate  (IAGP)
Hip contracture  (IAGP)
Horizontal nystagmus  (IAGP)
Hyperreflexia  (IAGP)
Hyperreflexia in upper limbs  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Impaired vibration sensation in the lower limbs  (IAGP)
Inability to walk  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Knee flexion contracture  (IAGP)
Kyphosis  (IAGP)
Loss of speech  (IAGP)
Lower limb muscle weakness  (IAGP)
Macroglossia  (IAGP)
Muscle weakness  (IAGP)
Pes cavus  (IAGP)
Progressive  (IAGP)
Pseudobulbar behavioral symptoms  (IAGP)
Restricted neck movement due to contractures  (IAGP)
Rotary nystagmus  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensory neuropathy  (IAGP)
Short philtrum  (IAGP)
Skeletal muscle atrophy  (IAGP)
Slowly progressive  (IAGP)
Spastic dysarthria  (IAGP)
Spastic gait  (IAGP)
Spastic paraplegia  (IAGP)
Spastic tetraparesis  (IAGP)
Spasticity  (IAGP)
Spinal rigidity  (IAGP)
Strabismus  (IAGP)
Synophrys  (IAGP)
Thick eyebrow  (IAGP)
Upper limb spasticity  (IAGP)
Wide mouth  (IAGP)
References

Additional References at PubMed
PMID:8889548   PMID:10449903   PMID:11256614   PMID:12477932   PMID:12975309   PMID:14702039   PMID:15342556   PMID:15489334   PMID:15897872   PMID:16196087   PMID:16835267   PMID:17110338  
PMID:17502376   PMID:17558393   PMID:18029348   PMID:18468998   PMID:19240031   PMID:19322201   PMID:19738201   PMID:19751772   PMID:20186120   PMID:20301682   PMID:21330303   PMID:21343306  
PMID:21796390   PMID:21873635   PMID:22119785   PMID:22268729   PMID:22354994   PMID:22360420   PMID:22678362   PMID:22681620   PMID:22690709   PMID:22771797   PMID:22810586   PMID:22939629  
PMID:23085305   PMID:23109145   PMID:23190606   PMID:23246001   PMID:23376485   PMID:23464991   PMID:23752268   PMID:23798571   PMID:24019521   PMID:24144296   PMID:24217618   PMID:24255178  
PMID:24999758   PMID:25204797   PMID:25798074   PMID:25882839   PMID:25921289   PMID:25959826   PMID:26186194   PMID:26209915   PMID:26496610   PMID:26549023   PMID:26638075   PMID:27025967  
PMID:27173435   PMID:27342126   PMID:27462423   PMID:27591049   PMID:27684187   PMID:27705803   PMID:27824013   PMID:28366632   PMID:28443643   PMID:28514442   PMID:28675297   PMID:28902428  
PMID:29053956   PMID:29128334   PMID:29331416   PMID:29453415   PMID:29509190   PMID:29511261   PMID:29528531   PMID:29568061   PMID:30021884   PMID:30135210   PMID:30154076   PMID:30352685  
PMID:30575818   PMID:30619736   PMID:30669930   PMID:30833792   PMID:30948266   PMID:31073040   PMID:31091453   PMID:31180492   PMID:31365120   PMID:31586073   PMID:31732153   PMID:31980649  
PMID:32094424   PMID:32147972   PMID:32149426   PMID:32322062   PMID:32409323   PMID:32614325   PMID:32738194   PMID:32780723   PMID:32807901   PMID:32838362   PMID:32877691   PMID:32913203  
PMID:32929329   PMID:33144569   PMID:33263384   PMID:33424830   PMID:34079125  


Genomics

Comparative Map Data
ERLIN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl837,736,601 - 37,758,422 (+)EnsemblGRCh38hg38GRCh38
GRCh38837,736,627 - 37,758,422 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37837,594,152 - 37,615,940 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36837,713,255 - 37,734,477 (+)NCBINCBI36hg18NCBI36
Build 34837,713,306 - 37,734,476NCBI
Celera836,546,048 - 36,567,268 (+)NCBI
Cytogenetic Map8p11.23NCBI
HuRef836,128,897 - 36,150,116 (+)NCBIHuRef
CHM1_1837,795,543 - 37,816,776 (+)NCBICHM1_1
Erlin2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39827,513,399 - 27,529,465 (+)NCBIGRCm39mm39
GRCm39 Ensembl827,513,289 - 27,530,356 (+)Ensembl
GRCm38827,023,371 - 27,039,437 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl827,023,261 - 27,040,328 (+)EnsemblGRCm38mm10GRCm38
MGSCv37828,134,331 - 28,149,896 (+)NCBIGRCm37mm9NCBIm37
MGSCv36828,489,795 - 28,505,360 (+)NCBImm8
Celera828,512,703 - 28,528,268 (+)NCBICelera
Cytogenetic Map8A2NCBI
Erlin2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21665,017,654 - 65,034,184 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1665,018,532 - 65,033,671 (-)Ensembl
Rnor_6.01669,179,005 - 69,195,452 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1669,179,588 - 69,195,097 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01668,853,254 - 68,868,395 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41669,345,708 - 69,360,849 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11669,347,796 - 69,361,094 (-)NCBI
Celera1662,937,899 - 62,953,040 (-)NCBICelera
Cytogenetic Map16q12.3NCBI
Erlin2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546313,444,722 - 13,463,132 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546313,445,468 - 13,460,370 (+)NCBIChiLan1.0ChiLan1.0
ERLIN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1834,212,610 - 34,233,583 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl834,212,704 - 34,233,583 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0837,034,391 - 37,057,164 (+)NCBIMhudiblu_PPA_v0panPan3
ERLIN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11627,622,549 - 27,639,807 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1627,625,417 - 27,639,202 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1628,139,650 - 28,156,544 (-)NCBI
ROS_Cfam_1.01629,522,128 - 29,539,021 (-)NCBI
UMICH_Zoey_3.11627,743,568 - 27,760,038 (-)NCBI
UNSW_CanFamBas_1.01628,321,254 - 28,338,103 (-)NCBI
UU_Cfam_GSD_1.01628,360,352 - 28,377,263 (-)NCBI
Erlin2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494350,251,154 - 50,267,575 (-)NCBI
SpeTri2.0NW_0049367101,193,679 - 1,210,059 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ERLIN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1548,643,724 - 48,662,536 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11548,643,722 - 48,662,648 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21555,760,192 - 55,779,099 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ERLIN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1835,771,541 - 35,789,848 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl835,771,580 - 35,789,345 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660526,212,314 - 6,233,680 (-)NCBIVero_WHO_p1.0
Erlin2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247805,844,473 - 5,861,493 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH80675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37837,614,631 - 37,614,872UniSTSGRCh37
Build 36837,733,789 - 37,734,030RGDNCBI36
Celera836,566,580 - 36,566,821RGD
Cytogenetic Map8p11.2UniSTS
HuRef836,149,428 - 36,149,669UniSTS
GeneMap99-GB4 RH Map8142.48UniSTS
RH80184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37837,611,894 - 37,612,140UniSTSGRCh37
Build 36837,731,052 - 37,731,298RGDNCBI36
Celera836,563,843 - 36,564,089RGD
Cytogenetic Map8p11.2UniSTS
HuRef836,146,693 - 36,146,939UniSTS
SHGC-170127  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37837,606,459 - 37,606,802UniSTSGRCh37
Build 36837,725,617 - 37,725,960RGDNCBI36
Celera836,558,408 - 36,558,751RGD
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map8p11.23UniSTS
HuRef836,141,258 - 36,141,601UniSTS
TNG Radiation Hybrid Map820611.0UniSTS
STS-T79168  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37837,614,652 - 37,614,851UniSTSGRCh37
Build 36837,733,810 - 37,734,009RGDNCBI36
Celera836,566,601 - 36,566,800RGD
Cytogenetic Map8p11.2UniSTS
HuRef836,149,449 - 36,149,648UniSTS
GeneMap99-GB4 RH Map8153.29UniSTS
STS-N24894  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37837,614,264 - 37,614,419UniSTSGRCh37
Build 36837,733,422 - 37,733,577RGDNCBI36
Celera836,566,213 - 36,566,368RGD
Cytogenetic Map8p11.2UniSTS
HuRef836,149,061 - 36,149,216UniSTS
GeneMap99-GB4 RH Map8151.32UniSTS
RH65346  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37837,605,261 - 37,605,391UniSTSGRCh37
Build 36837,724,419 - 37,724,549RGDNCBI36
Celera836,557,210 - 36,557,340RGD
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic MapXq23UniSTS
HuRef836,140,060 - 36,140,190UniSTS
GeneMap99-GB4 RH Map8143.06UniSTS
G17213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37837,596,803 - 37,596,989UniSTSGRCh37
Build 36837,715,961 - 37,716,147RGDNCBI36
Celera836,548,754 - 36,548,940RGD
Cytogenetic Map8p11.2UniSTS
HuRef836,131,603 - 36,131,789UniSTS
MARC_21759-21760:1023907404:5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37837,604,952 - 37,605,072UniSTSGRCh37
GRCh37X118,675,326 - 118,676,530UniSTSGRCh37
Build 36837,724,110 - 37,724,230RGDNCBI36
CeleraX119,130,055 - 119,131,244UniSTS
Celera836,556,901 - 36,557,021RGD
HuRef836,139,751 - 36,139,871UniSTS
HuRefX108,169,048 - 108,170,000UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
ERLIN2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37837,601,873 - 37,602,189UniSTSGRCh37
Celera836,553,823 - 36,554,139UniSTS
HuRef836,136,672 - 36,136,988UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4712
Count of miRNA genes:1321
Interacting mature miRNAs:1704
Transcripts:ENST00000276461, ENST00000335171, ENST00000397228, ENST00000518526, ENST00000518586, ENST00000519638, ENST00000519872, ENST00000521644, ENST00000521993, ENST00000523107, ENST00000523887
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.


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 1368 1303 1112 341 795 209 2925 437 1229 340 1306 1311 145 814 1731 4
Low 1071 1663 614 283 1134 256 1431 1757 2505 78 154 302 30 1 390 1057 2 2
Below cutoff 25 22 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001003790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001003791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB018790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL442077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI560439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM511579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP281637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP353279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP363612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU608317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX104878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX281023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB215274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX871115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000335171   ⟹   ENSP00000335220
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl837,736,685 - 37,746,548 (+)Ensembl
RefSeq Acc Id: ENST00000518526   ⟹   ENSP00000429229
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl837,736,623 - 37,751,697 (+)Ensembl
RefSeq Acc Id: ENST00000518586   ⟹   ENSP00000427847
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl837,736,681 - 37,746,553 (+)Ensembl
RefSeq Acc Id: ENST00000519638   ⟹   ENSP00000428112
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl837,736,634 - 37,758,422 (+)Ensembl
RefSeq Acc Id: ENST00000519872
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl837,736,601 - 37,740,714 (+)Ensembl
RefSeq Acc Id: ENST00000521644   ⟹   ENSP00000429621
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl837,736,692 - 37,754,111 (+)Ensembl
RefSeq Acc Id: ENST00000521993
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl837,736,643 - 37,750,163 (+)Ensembl
RefSeq Acc Id: ENST00000523107   ⟹   ENSP00000473292
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl837,737,008 - 37,744,921 (+)Ensembl
RefSeq Acc Id: ENST00000523887   ⟹   ENSP00000429903
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl837,736,625 - 37,746,550 (+)Ensembl
RefSeq Acc Id: ENST00000647813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl837,737,610 - 37,744,416 (+)Ensembl
RefSeq Acc Id: ENST00000648919   ⟹   ENSP00000497100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl837,736,634 - 37,746,550 (+)Ensembl
RefSeq Acc Id: NM_001003790   ⟹   NP_001003790
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38837,736,634 - 37,746,550 (+)NCBI
GRCh37837,593,743 - 37,615,319 (+)NCBI
Build 36837,713,357 - 37,723,229 (+)NCBI Archive
Celera836,546,048 - 36,567,268 (+)RGD
HuRef836,128,897 - 36,150,116 (+)ENTREZGENE
CHM1_1837,795,643 - 37,805,516 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001003791   ⟹   NP_001003791
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38837,736,634 - 37,746,550 (+)NCBI
GRCh37837,593,743 - 37,615,319 (+)NCBI
Build 36837,713,255 - 37,723,229 (+)NCBI Archive
Celera836,546,048 - 36,567,268 (+)RGD
HuRef836,128,897 - 36,150,116 (+)ENTREZGENE
CHM1_1837,795,543 - 37,805,516 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001362878   ⟹   NP_001349807
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38837,736,634 - 37,758,422 (+)NCBI
RefSeq Acc Id: NM_001362880   ⟹   NP_001349809
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38837,736,634 - 37,746,550 (+)NCBI
RefSeq Acc Id: NM_007175   ⟹   NP_009106
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38837,736,634 - 37,758,422 (+)NCBI
GRCh37837,593,743 - 37,615,319 (+)NCBI
Build 36837,713,255 - 37,734,477 (+)NCBI Archive
Celera836,546,048 - 36,567,268 (+)RGD
HuRef836,128,897 - 36,150,116 (+)ENTREZGENE
CHM1_1837,795,543 - 37,816,776 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006716280   ⟹   XP_006716343
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38837,736,627 - 37,754,884 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447058   ⟹   XP_024302826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38837,737,336 - 37,754,884 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_009106   ⟸   NM_007175
- Peptide Label: isoform 1
- UniProtKB: O94905 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001003791   ⟸   NM_001003791
- Peptide Label: isoform 2
- UniProtKB: O94905 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001003790   ⟸   NM_001003790
- Peptide Label: isoform 2
- UniProtKB: O94905 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716343   ⟸   XM_006716280
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024302826   ⟸   XM_024447058
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001349807   ⟸   NM_001362878
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001349809   ⟸   NM_001362880
- Peptide Label: isoform 2
RefSeq Acc Id: ENSP00000497100   ⟸   ENST00000648919
RefSeq Acc Id: ENSP00000427847   ⟸   ENST00000518586
RefSeq Acc Id: ENSP00000429229   ⟸   ENST00000518526
RefSeq Acc Id: ENSP00000428112   ⟸   ENST00000519638
RefSeq Acc Id: ENSP00000335220   ⟸   ENST00000335171
RefSeq Acc Id: ENSP00000429621   ⟸   ENST00000521644
RefSeq Acc Id: ENSP00000429903   ⟸   ENST00000523887
RefSeq Acc Id: ENSP00000473292   ⟸   ENST00000523107
Protein Domains
PHB

Promoters
RGD ID:6806736
Promoter ID:HG_KWN:61115
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001003790,   NM_001003791,   NM_007175,   UC003XKD.2,   UC003XKG.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36837,713,074 - 37,713,574 (+)MPROMDB
RGD ID:6813391
Promoter ID:HG_ACW:76673
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ERLIN2.QAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36837,727,796 - 37,728,296 (+)MPROMDB
RGD ID:7213089
Promoter ID:EPDNEW_H12290
Type:initiation region
Name:ERLIN2_1
Description:ER lipid raft associated 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12291  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38837,736,634 - 37,736,694EPDNEW
RGD ID:7213091
Promoter ID:EPDNEW_H12291
Type:initiation region
Name:ERLIN2_2
Description:ER lipid raft associated 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12290  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38837,736,745 - 37,736,805EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_007175.8(ERLIN2):c.277A>G (p.Asn93Asp) single nucleotide variant Spastic paraplegia [RCV000529180] Chr8:37744395 [GRCh38]
Chr8:37601913 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_007175.8(ERLIN2):c.452C>T (p.Ala151Val) single nucleotide variant Spastic paraplegia [RCV000544936] Chr8:37749586 [GRCh38]
Chr8:37607104 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_007175.8(ERLIN2):c.812_813insAC (p.Asn272fs) insertion Hereditary spastic paraplegia 18 [RCV000023901] Chr8:37753521..37753522 [GRCh38]
Chr8:37611039..37611040 [GRCh37]
Chr8:8p11.23
pathogenic
NM_007175.8(ERLIN2):c.499-1G>T single nucleotide variant Hereditary spastic paraplegia 18 [RCV000077785] Chr8:37749793 [GRCh38]
Chr8:37607311 [GRCh37]
Chr8:8p11.23
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1 copy number loss See cases [RCV000050745] Chr8:34312250..43158901 [GRCh38]
Chr8:34169768..43014044 [GRCh37]
Chr8:34289310..43133201 [NCBI36]
Chr8:8p12-11.21
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3 copy number gain See cases [RCV000050995] Chr8:29719897..48521849 [GRCh38]
Chr8:29577413..49434409 [GRCh37]
Chr8:29633332..49596962 [NCBI36]
Chr8:8p12-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_007175.8(ERLIN2):c.318C>T (p.Asn106=) single nucleotide variant Spastic paraplegia [RCV000465138]|not specified [RCV000117002] Chr8:37744590 [GRCh38]
Chr8:37602108 [GRCh37]
Chr8:8p11.23
benign|likely benign|conflicting interpretations of pathogenicity
NM_007175.8(ERLIN2):c.696G>A (p.Lys232=) single nucleotide variant Spastic paraplegia [RCV000228259]|not provided [RCV001535415]|not specified [RCV000117003] Chr8:37751672 [GRCh38]
Chr8:37609190 [GRCh37]
Chr8:8p11.23
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1 copy number loss See cases [RCV000136878] Chr8:29362097..40231708 [GRCh38]
Chr8:29219614..40089227 [GRCh37]
Chr8:29275533..40208384 [NCBI36]
Chr8:8p12-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
NM_007175.8(ERLIN2):c.740-5C>G single nucleotide variant Spastic paraplegia [RCV000862356]|not specified [RCV000193298] Chr8:37753445 [GRCh38]
Chr8:37610963 [GRCh37]
Chr8:8p11.23
benign|likely benign|uncertain significance
NM_007175.8(ERLIN2):c.819+3A>G single nucleotide variant Spastic paraplegia [RCV000543705]|not specified [RCV000194541] Chr8:37753532 [GRCh38]
Chr8:37611050 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_007175.8(ERLIN2):c.1002_1007del (p.Ala335_Thr336del) deletion Spastic paraplegia [RCV001302304]|not specified [RCV000195087] Chr8:37754095..37754100 [GRCh38]
Chr8:37611613..37611618 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_007175.8(ERLIN2):c.899A>T (p.Asp300Val) single nucleotide variant Hereditary spastic paraplegia [RCV000515830]|Spastic paraplegia [RCV001070378] Chr8:37753994 [GRCh38]
Chr8:37611512 [GRCh37]
Chr8:8p11.23
likely pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
NM_007175.8(ERLIN2):c.557+8T>C single nucleotide variant Spastic paraplegia [RCV000226598] Chr8:37749860 [GRCh38]
Chr8:37607378 [GRCh37]
Chr8:8p11.23
benign
GRCh37/hg19 8p11.23-11.22(chr8:37555526-38600788)x3 copy number gain See cases [RCV000240444] Chr8:37555526..38600788 [GRCh37]
Chr8:8p11.23-11.22
uncertain significance
NM_007175.8(ERLIN2):c.17del (p.Ala6fs) deletion not provided [RCV000298297] Chr8:37737939 [GRCh38]
Chr8:37595457 [GRCh37]
Chr8:8p11.23
pathogenic
NM_007175.8(ERLIN2):c.36C>A (p.Ser12=) single nucleotide variant not provided [RCV000285566] Chr8:37737958 [GRCh38]
Chr8:37595476 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_007175.8(ERLIN2):c.772G>T (p.Ala258Ser) single nucleotide variant Spastic paraplegia [RCV000555195] Chr8:37753482 [GRCh38]
Chr8:37611000 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_007175.8(ERLIN2):c.237-1G>A single nucleotide variant not provided [RCV000416259] Chr8:37744354 [GRCh38]
Chr8:37601872 [GRCh37]
Chr8:8p11.23
pathogenic|likely pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1
uncertain significance
GRCh37/hg19 8p11.23-11.22(chr8:37566388-38802788)x1 copy number loss See cases [RCV000447568] Chr8:37566388..38802788 [GRCh37]
Chr8:8p11.23-11.22
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_007175.8(ERLIN2):c.431T>C (p.Ile144Thr) single nucleotide variant not provided [RCV000437307] Chr8:37749565 [GRCh38]
Chr8:37607083 [GRCh37]
Chr8:8p11.23
likely pathogenic
NM_007175.8(ERLIN2):c.-42G>C single nucleotide variant not specified [RCV000444783] Chr8:37736652 [GRCh38]
Chr8:37594170 [GRCh37]
Chr8:8p11.23
likely benign
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
NM_007175.8(ERLIN2):c.299-4_299-3del microsatellite not specified [RCV000501052] Chr8:37744564..37744565 [GRCh38]
Chr8:37602082..37602083 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_007175.8(ERLIN2):c.557_557+10delinsCCTGGCTGTGACCTGGGCTGTGA indel Hereditary spastic paraplegia 18 [RCV000499431] Chr8:37749852..37749862 [GRCh38]
Chr8:37607370..37607380 [GRCh37]
Chr8:8p11.23
likely pathogenic
NM_007175.8(ERLIN2):c.219T>C (p.Asn73=) single nucleotide variant Spastic paraplegia [RCV001492535]|not specified [RCV000504080] Chr8:37741801 [GRCh38]
Chr8:37599319 [GRCh37]
Chr8:8p11.23
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_007175.8(ERLIN2):c.123G>A (p.Leu41=) single nucleotide variant Spastic paraplegia [RCV000555285]|not specified [RCV000502010] Chr8:37740380 [GRCh38]
Chr8:37597898 [GRCh37]
Chr8:8p11.23
benign|uncertain significance
NM_007175.8(ERLIN2):c.589G>A (p.Ala197Thr) single nucleotide variant not specified [RCV000503140] Chr8:37750426 [GRCh38]
Chr8:37607944 [GRCh37]
Chr8:8p11.23
uncertain significance
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_007175.8(ERLIN2):c.558-20C>T single nucleotide variant not specified [RCV000612392] Chr8:37750375 [GRCh38]
Chr8:37607893 [GRCh37]
Chr8:8p11.23
likely benign
NM_007175.8(ERLIN2):c.816T>C (p.Asn272=) single nucleotide variant Spastic paraplegia [RCV000533363] Chr8:37753526 [GRCh38]
Chr8:37611044 [GRCh37]
Chr8:8p11.23
benign
NM_007175.8(ERLIN2):c.94G>T (p.Gly32Trp) single nucleotide variant Spastic paraplegia [RCV000558243] Chr8:37738016 [GRCh38]
Chr8:37595534 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_007175.8(ERLIN2):c.406G>A (p.Val136Ile) single nucleotide variant Spastic paraplegia [RCV000633054] Chr8:37744678 [GRCh38]
Chr8:37602196 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_007175.8(ERLIN2):c.408C>G (p.Val136=) single nucleotide variant Spastic paraplegia [RCV000633096] Chr8:37744680 [GRCh38]
Chr8:37602198 [GRCh37]
Chr8:8p11.23
likely benign
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p12-11.21(chr8:31352498-41481295)x3 copy number gain not provided [RCV000683035] Chr8:31352498..41481295 [GRCh37]
Chr8:8p12-11.21
pathogenic
NM_007175.8(ERLIN2):c.1004C>A (p.Ala335Asp) single nucleotide variant Spastic paraplegia [RCV000694805] Chr8:37754099 [GRCh38]
Chr8:37611617 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_007175.8(ERLIN2):c.688G>A (p.Gly230Arg) single nucleotide variant Spastic paraplegia [RCV000689720] Chr8:37751664 [GRCh38]
Chr8:37609182 [GRCh37]
Chr8:8p11.23
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001583455] Chr8:37750623 [GRCh38]
Chr8:37608141 [GRCh37]
Chr8:8p11.23
likely benign
null single nucleotide variant not provided [RCV001725675] Chr8:37738123 [GRCh38]
Chr8:37595641 [GRCh37]
benign
NM_007175.8(ERLIN2):c.424+1105C>T single nucleotide variant not provided [RCV001575784] Chr8:37745801 [GRCh38]
Chr8:37603319 [GRCh37]
Chr8:8p11.23
likely benign
NM_007175.8(ERLIN2):c.395C>T (p.Thr132Met) single nucleotide variant not provided [RCV000999024] Chr8:37744667 [GRCh38]
Chr8:37602185 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_007175.8(ERLIN2):c.366C>T (p.His122=) single nucleotide variant not provided [RCV000866540] Chr8:37744638 [GRCh38]
Chr8:37602156 [GRCh37]
Chr8:8p11.23
likely benign
NM_007175.8(ERLIN2):c.771G>A (p.Lys257=) single nucleotide variant not provided [RCV000864197] Chr8:37753481 [GRCh38]
Chr8:37610999 [GRCh37]
Chr8:8p11.23
likely benign
NM_007175.8(ERLIN2):c.954G>A (p.Gly318=) single nucleotide variant not provided [RCV000867319] Chr8:37754049 [GRCh38]
Chr8:37611567 [GRCh37]
Chr8:8p11.23
likely benign
NM_007175.8(ERLIN2):c.129G>A (p.Ser43=) single nucleotide variant not provided [RCV000868758] Chr8:37740386 [GRCh38]
Chr8:37597904 [GRCh37]
Chr8:8p11.23
likely benign
NM_007175.8(ERLIN2):c.1017T>C (p.Asn339=) single nucleotide variant not provided [RCV000877621] Chr8:37754112 [GRCh38]
Chr8:37611630 [GRCh37]
Chr8:8p11.23
likely benign
NM_007175.8(ERLIN2):c.333T>C (p.Tyr111=) single nucleotide variant not provided [RCV000866252] Chr8:37744605 [GRCh38]
Chr8:37602123 [GRCh37]
Chr8:8p11.23
benign
NM_007175.8(ERLIN2):c.76A>T (p.Ile26Leu) single nucleotide variant Spastic paraplegia [RCV001037234] Chr8:37737998 [GRCh38]
Chr8:37595516 [GRCh37]
Chr8:8p11.23
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_007175.8(ERLIN2):c.389T>C (p.Val130Ala) single nucleotide variant Spastic paraplegia [RCV001047123] Chr8:37744661 [GRCh38]
Chr8:37602179 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_007175.8(ERLIN2):c.205G>C (p.Asp69His) single nucleotide variant Spastic paraplegia [RCV001035221] Chr8:37741787 [GRCh38]
Chr8:37599305 [GRCh37]
Chr8:8p11.23
uncertain significance
GRCh37/hg19 8p12-11.23(chr8:36486830-37992515)x1 copy number loss See cases [RCV000790586] Chr8:36486830..37992515 [GRCh37]
Chr8:8p12-11.23
uncertain significance
NM_007175.8(ERLIN2):c.425-114C>T single nucleotide variant not provided [RCV000839251] Chr8:37749445 [GRCh38]
Chr8:37606963 [GRCh37]
Chr8:8p11.23
likely benign
GRCh37/hg19 8p12-11.1(chr8:36094421-43822214)x3 copy number gain not provided [RCV000848822] Chr8:36094421..43822214 [GRCh37]
Chr8:8p12-11.1
uncertain significance
NM_007175.8(ERLIN2):c.237-20G>A single nucleotide variant not provided [RCV000842735] Chr8:37744335 [GRCh38]
Chr8:37601853 [GRCh37]
Chr8:8p11.23
likely benign
NM_007175.8(ERLIN2):c.46del (p.Cys16fs) deletion Spastic paraplegia [RCV000791854] Chr8:37737965 [GRCh38]
Chr8:37595483 [GRCh37]
Chr8:8p11.23
pathogenic
NM_007175.8(ERLIN2):c.144T>C (p.Gly48=) single nucleotide variant not provided [RCV000870217] Chr8:37740401 [GRCh38]
Chr8:37597919 [GRCh37]
Chr8:8p11.23
likely benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_007175.8(ERLIN2):c.385A>G (p.Ser129Gly) single nucleotide variant Spastic paraplegia [RCV001206704] Chr8:37744657 [GRCh38]
Chr8:37602175 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_007175.8(ERLIN2):c.861_874dup (p.Asn292fs) duplication not provided [RCV001009265] Chr8:37753954..37753955 [GRCh38]
Chr8:37611472..37611473 [GRCh37]
Chr8:8p11.23
likely pathogenic
NM_007175.8(ERLIN2):c.502G>A (p.Val168Met) single nucleotide variant Spastic paraplegia [RCV001229289] Chr8:37749797 [GRCh38]
Chr8:37607315 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_007175.8(ERLIN2):c.820-172C>T single nucleotide variant not provided [RCV001567819] Chr8:37753743 [GRCh38]
Chr8:37611261 [GRCh37]
Chr8:8p11.23
likely benign
NM_007175.8(ERLIN2):c.558-222T>C single nucleotide variant not provided [RCV001575860] Chr8:37750173 [GRCh38]
Chr8:37607691 [GRCh37]
Chr8:8p11.23
likely benign
NM_007175.8(ERLIN2):c.189+154A>G single nucleotide variant not provided [RCV001562059] Chr8:37740600 [GRCh38]
Chr8:37598118 [GRCh37]
Chr8:8p11.23
likely benign
NM_007175.8(ERLIN2):c.39T>C (p.Ser13=) single nucleotide variant not provided [RCV000877740] Chr8:37737961 [GRCh38]
Chr8:37595479 [GRCh37]
Chr8:8p11.23
likely benign
NM_007175.8(ERLIN2):c.557+10C>T single nucleotide variant Spastic paraplegia [RCV000864158] Chr8:37749862 [GRCh38]
Chr8:37607380 [GRCh37]
Chr8:8p11.23
likely benign
NM_007175.8(ERLIN2):c.425-154C>G single nucleotide variant not provided [RCV001540097] Chr8:37749405 [GRCh38]
Chr8:37606923 [GRCh37]
Chr8:8p11.23
likely benign
NM_007175.8(ERLIN2):c.425-45A>G single nucleotide variant not provided [RCV001562209] Chr8:37749514 [GRCh38]
Chr8:37607032 [GRCh37]
Chr8:8p11.23
likely benign
NM_032043.3(BRIP1):c.1795-12_1795-10del deletion not provided [RCV001718311] Chr8:37753412 [GRCh38]
Chr8:37610930 [GRCh37]
Chr8:8p11.23
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001677570] Chr8:37744875 [GRCh38]
Chr8:37602393 [GRCh37]
Chr8:8p11.23
benign
null single nucleotide variant not provided [RCV001641641] Chr8:37754189 [GRCh38]
Chr8:37611707 [GRCh37]
Chr8:8p11.23
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001587757] Chr8:37738225 [GRCh38]
Chr8:37595743 [GRCh37]
Chr8:8p11.23
likely benign
null single nucleotide variant not provided [RCV001725676] Chr8:37741592 [GRCh38]
Chr8:37599110 [GRCh37]
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001583334] Chr8:37744048 [GRCh38]
Chr8:37601566 [GRCh37]
Chr8:8p11.23
likely benign
null duplication not provided [RCV001612602] Chr8:37750726..37750727 [GRCh38]
Chr8:37608244..37608245 [GRCh37]
Chr8:8p11.23
benign
NM_007175.8(ERLIN2):c.187C>A (p.Gln63Lys) single nucleotide variant Hereditary spastic paraplegia [RCV001391375]|Spastic paraplegia [RCV001065814] Chr8:37740444 [GRCh38]
Chr8:37597962 [GRCh37]
Chr8:8p11.23
pathogenic|uncertain significance
NM_007175.8(ERLIN2):c.557+185G>C single nucleotide variant not provided [RCV001547520] Chr8:37750037 [GRCh38]
Chr8:37607555 [GRCh37]
Chr8:8p11.23
likely benign
NM_007175.8(ERLIN2):c.853A>T (p.Lys285Ter) single nucleotide variant Spastic paraplegia [RCV001233395] Chr8:37753948 [GRCh38]
Chr8:37611466 [GRCh37]
Chr8:8p11.23
likely pathogenic
NM_007175.8(ERLIN2):c.148C>T (p.His50Tyr) single nucleotide variant Spastic paraplegia [RCV001218940] Chr8:37740405 [GRCh38]
Chr8:37597923 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_007175.8(ERLIN2):c.461A>C (p.Gln154Pro) single nucleotide variant Spastic paraplegia [RCV001216448]|not provided [RCV001508603] Chr8:37749595 [GRCh38]
Chr8:37607113 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_007175.8(ERLIN2):c.303T>A (p.Tyr101Ter) single nucleotide variant Spastic paraplegia [RCV001035446] Chr8:37744575 [GRCh38]
Chr8:37602093 [GRCh37]
Chr8:8p11.23
pathogenic
NM_007175.8(ERLIN2):c.246GAT[1] (p.Met83del) microsatellite Spastic paraplegia [RCV001044725] Chr8:37744363..37744365 [GRCh38]
Chr8:37601881..37601883 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_007175.8(ERLIN2):c.353del (p.Asn118fs) deletion not provided [RCV001008854] Chr8:37744624 [GRCh38]
Chr8:37602142 [GRCh37]
Chr8:8p11.23
pathogenic
NM_007175.8(ERLIN2):c.220G>A (p.Val74Ile) single nucleotide variant Spastic paraplegia [RCV001038130] Chr8:37741802 [GRCh38]
Chr8:37599320 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant Hereditary spastic paraplegia 18 [RCV001334646]|Spastic paraplegia, autosomal dominant [RCV001712891] Chr8:37744628 [GRCh38]
Chr8:37602146 [GRCh37]
Chr8:8p11.23
likely pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormality of the fetal cardiovascular system [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
NM_007175.8(ERLIN2):c.424+7A>G single nucleotide variant not provided [RCV001311328] Chr8:37744703 [GRCh38]
Chr8:37602221 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_007175.8(ERLIN2):c.420G>A (p.Leu140=) single nucleotide variant Spastic paraplegia [RCV001414335] Chr8:37744692 [GRCh38]
Chr8:37602210 [GRCh37]
Chr8:8p11.23
likely benign
NM_007175.8(ERLIN2):c.374A>G (p.Asn125Ser) single nucleotide variant Hereditary spastic paraplegia [RCV001391376] Chr8:37744646 [GRCh38]
Chr8:37602164 [GRCh37]
Chr8:8p11.23
pathogenic
NM_007175.8(ERLIN2):c.877A>G (p.Ser293Gly) single nucleotide variant Hereditary spastic paraplegia 18 [RCV001391380] Chr8:37753972 [GRCh38]
Chr8:37611490 [GRCh37]
Chr8:8p11.23
pathogenic
NM_007175.8(ERLIN2):c.799A>G (p.Lys267Glu) single nucleotide variant Hereditary spastic paraplegia 18 [RCV001391378] Chr8:37753509 [GRCh38]
Chr8:37611027 [GRCh37]
Chr8:8p11.23
pathogenic
NM_007175.8(ERLIN2):c.430A>G (p.Ile144Val) single nucleotide variant Hereditary spastic paraplegia [RCV001391377] Chr8:37749564 [GRCh38]
Chr8:37607082 [GRCh37]
Chr8:8p11.23
pathogenic
NM_007175.8(ERLIN2):c.819G>A (p.Lys273=) single nucleotide variant Hereditary spastic paraplegia 18 [RCV001391379] Chr8:37753529 [GRCh38]
Chr8:37611047 [GRCh37]
Chr8:8p11.23
pathogenic
NM_007175.8(ERLIN2):c.820C>A (p.Leu274Met) single nucleotide variant Spastic paraplegia [RCV001294392] Chr8:37753915 [GRCh38]
Chr8:37611433 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_007175.8(ERLIN2):c.687C>T (p.Tyr229=) single nucleotide variant Spastic paraplegia [RCV001498334] Chr8:37751663 [GRCh38]
Chr8:37609181 [GRCh37]
Chr8:8p11.23
likely benign
NM_007175.8(ERLIN2):c.298+5G>A single nucleotide variant not provided [RCV001508602] Chr8:37744421 [GRCh38]
Chr8:37601939 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) microsatellite not provided [RCV001651638] Chr8:37740607..37740608 [GRCh38]
Chr8:37598125..37598126 [GRCh37]
Chr8:8p11.23
benign
NM_007175.8(ERLIN2):c.367G>T (p.Glu123Ter) single nucleotide variant Spastic paraplegia [RCV001383929] Chr8:37744639 [GRCh38]
Chr8:37602157 [GRCh37]
Chr8:8p11.23
pathogenic
NM_007175.8(ERLIN2):c.649+9G>A single nucleotide variant Spastic paraplegia [RCV001518322] Chr8:37750495 [GRCh38]
Chr8:37608013 [GRCh37]
Chr8:8p11.23
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1356 AgrOrtholog
COSMIC ERLIN2 COSMIC
Ensembl Genes ENSG00000147475 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000335220 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427847 UniProtKB/Swiss-Prot
  ENSP00000428112 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429229 UniProtKB/TrEMBL
  ENSP00000429621 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000429903 UniProtKB/Swiss-Prot
  ENSP00000473292 UniProtKB/Swiss-Prot
  ENSP00000497100 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000335171 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000518526 UniProtKB/TrEMBL
  ENST00000518586 UniProtKB/Swiss-Prot
  ENST00000519638 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000521644 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000523107 UniProtKB/Swiss-Prot
  ENST00000523887 UniProtKB/Swiss-Prot
  ENST00000648919 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000147475 GTEx
HGNC ID HGNC:1356 ENTREZGENE
Human Proteome Map ERLIN2 Human Proteome Map
InterPro Band_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Erlin1/2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11160 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 11160 ENTREZGENE
OMIM 611225 OMIM
  611605 OMIM
PANTHER PTHR15351 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Band_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25961 PharmGKB
SMART PHB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384ME54_HUMAN UniProtKB/TrEMBL
  E5RHW4_HUMAN UniProtKB/TrEMBL
  E5RJ09_HUMAN UniProtKB/TrEMBL
  ERLN2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0JLQ1 UniProtKB/Swiss-Prot
  A8K5S9 UniProtKB/Swiss-Prot
  B4DM38 UniProtKB/Swiss-Prot
  D3DSW0 UniProtKB/Swiss-Prot
  Q6NW21 UniProtKB/Swiss-Prot
  Q86VS6 UniProtKB/Swiss-Prot
  Q86W49 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-11-15 ERLIN2  ER lipid raft associated 2  SPG18  spastic paraplegia 18 (autosomal dominant)  Data Merged 737654 PROVISIONAL