REEP1 (receptor accessory protein 1) - Rat Genome Database

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Gene: REEP1 (receptor accessory protein 1) Homo sapiens
Analyze
Symbol: REEP1
Name: receptor accessory protein 1
RGD ID: 1313134
HGNC Page HGNC
Description: Exhibits microtubule binding activity and olfactory receptor binding activity. Involved in endoplasmic reticulum tubular network organization and protein insertion into membrane. Localizes to endoplasmic reticulum and membrane. Implicated in distal hereditary motor neuronopathy type 5B and hereditary spastic paraplegia 31.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C2orf23; chromosome 2 open reading frame 23; FLJ13110; HMN5B; receptor expression-enhancing protein 1; SPG31; Yip2a
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 Ensembl286,213,993 - 86,338,083 (-)EnsemblGRCh38hg38GRCh38
GRCh38286,213,993 - 86,338,083 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37286,441,116 - 86,565,206 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36286,294,633 - 86,418,288 (-)NCBINCBI36hg18NCBI36
Build 34286,352,779 - 86,476,435NCBI
Celera286,269,251 - 86,393,245 (-)NCBI
Cytogenetic Map2p11.2NCBI
HuRef286,338,580 - 86,462,643 (-)NCBIHuRef
CHM1_1286,370,561 - 86,495,314 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:7829101   PMID:14702039   PMID:14744259   PMID:15489334   PMID:15550249   PMID:15815621   PMID:16271481   PMID:16344560   PMID:16720576   PMID:16826527   PMID:17979178   PMID:18321925  
PMID:18364116   PMID:18644145   PMID:19034539   PMID:19072839   PMID:19161151   PMID:19322201   PMID:19781397   PMID:20200447   PMID:20301682   PMID:20379614   PMID:20718791   PMID:21618648  
PMID:21873635   PMID:22703882   PMID:23108492   PMID:23969831   PMID:24051375   PMID:24355597   PMID:24478229   PMID:24986827   PMID:26201691   PMID:26671083   PMID:28514442   PMID:29107646  
PMID:29124833   PMID:29908077   PMID:30637453   PMID:30945288   PMID:31055810   PMID:32296183  


Genomics

Comparative Map Data
REEP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl286,213,993 - 86,338,083 (-)EnsemblGRCh38hg38GRCh38
GRCh38286,213,993 - 86,338,083 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37286,441,116 - 86,565,206 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36286,294,633 - 86,418,288 (-)NCBINCBI36hg18NCBI36
Build 34286,352,779 - 86,476,435NCBI
Celera286,269,251 - 86,393,245 (-)NCBI
Cytogenetic Map2p11.2NCBI
HuRef286,338,580 - 86,462,643 (-)NCBIHuRef
CHM1_1286,370,561 - 86,495,314 (-)NCBICHM1_1
Reep1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39671,684,413 - 71,787,694 (+)NCBIGRCm39mm39
GRCm39 Ensembl671,684,545 - 71,787,694 (+)Ensembl
GRCm38671,707,429 - 71,810,710 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl671,707,561 - 71,810,710 (+)EnsemblGRCm38mm10GRCm38
MGSCv37671,657,854 - 71,760,696 (+)NCBIGRCm37mm9NCBIm37
MGSCv36671,637,369 - 71,740,211 (+)NCBImm8
Celera673,791,587 - 73,894,394 (+)NCBICelera
Cytogenetic Map6C1NCBI
cM Map632.2NCBI
Reep1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24103,746,004 - 103,862,347 (+)NCBI
Rnor_6.0 Ensembl499,618,622 - 99,735,319 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0499,618,622 - 99,735,329 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.04164,396,429 - 164,513,470 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44104,982,925 - 105,099,852 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.14105,227,462 - 105,342,336 (+)NCBI
Celera492,903,130 - 93,018,649 (+)NCBICelera
Cytogenetic Map4q31NCBI
Reep1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554241,369,490 - 1,425,605 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554241,369,490 - 1,425,611 (+)NCBIChiLan1.0ChiLan1.0
REEP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A87,814,041 - 87,881,687 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A87,814,047 - 87,936,984 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A86,268,147 - 86,391,520 (-)NCBIMhudiblu_PPA_v0panPan3
REEP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11738,807,217 - 38,908,434 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1738,807,014 - 38,906,196 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1738,493,572 - 38,594,217 (+)NCBI
ROS_Cfam_1.01739,540,817 - 39,641,510 (+)NCBI
UMICH_Zoey_3.11738,706,876 - 38,807,834 (+)NCBI
UNSW_CanFamBas_1.01738,743,145 - 38,843,963 (+)NCBI
UU_Cfam_GSD_1.01739,129,124 - 39,230,115 (+)NCBI
Reep1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629279,614,597 - 79,696,048 (-)NCBI
SpeTri2.0NW_0049367121,186,565 - 1,241,829 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
REEP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl358,435,510 - 58,558,939 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1358,436,319 - 58,558,943 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2361,264,880 - 61,327,574 (-)NCBISscrofa10.2Sscrofa10.2susScr3
REEP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11420,819,318 - 20,924,484 (+)NCBI
Reep1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474916,933,575 - 17,042,017 (+)NCBI

Position Markers
G16358  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37286,455,272 - 86,455,371UniSTSGRCh37
Build 36286,308,783 - 86,308,882RGDNCBI36
Celera286,283,341 - 86,283,440RGD
Cytogenetic Map2p11.2UniSTS
HuRef286,352,679 - 86,352,778UniSTS
D2S2907  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37286,440,686 - 86,440,820UniSTSGRCh37
Build 36286,294,197 - 86,294,331RGDNCBI36
Celera286,268,821 - 86,268,955RGD
Cytogenetic Map2p11.2UniSTS
HuRef286,338,150 - 86,338,284UniSTS
D2S1982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37286,441,141 - 86,441,299UniSTSGRCh37
Build 36286,294,652 - 86,294,810RGDNCBI36
Celera286,269,276 - 86,269,434RGD
Cytogenetic Map2p11.2UniSTS
HuRef286,338,605 - 86,338,763UniSTS
GeneMap99-GB4 RH Map2301.5UniSTS
Whitehead-RH Map2384.8UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map2460.4UniSTS
IB589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37286,456,789 - 86,457,107UniSTSGRCh37
Build 36286,310,300 - 86,310,618RGDNCBI36
Celera286,284,846 - 86,285,164RGD
Cytogenetic Map2p11.2UniSTS
HuRef286,354,184 - 86,354,502UniSTS
GeneMap99-GB4 RH Map2299.74UniSTS
Whitehead-RH Map2382.1UniSTS
NCBI RH Map2460.4UniSTS
D2S204E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37286,540,622 - 86,540,718UniSTSGRCh37
GRCh37286,540,522 - 86,540,753UniSTSGRCh37
GRCh37286,540,495 - 86,540,618UniSTSGRCh37
Build 36286,394,133 - 86,394,229RGDNCBI36
Celera286,368,662 - 86,368,758RGD
Celera286,368,535 - 86,368,658UniSTS
Celera286,368,562 - 86,368,793UniSTS
Cytogenetic Map2p11.2UniSTS
HuRef286,437,913 - 86,438,009UniSTS
HuRef286,437,813 - 86,438,044UniSTS
HuRef286,437,786 - 86,437,909UniSTS
Stanford-G3 RH Map23886.0UniSTS
GeneMap99-G3 RH Map24298.0UniSTS
D2S234E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37286,442,872 - 86,442,965UniSTSGRCh37
Build 36286,296,383 - 86,296,476RGDNCBI36
Celera286,271,007 - 86,271,100RGD
Cytogenetic Map2p11.2UniSTS
HuRef286,340,336 - 86,340,429UniSTS
Cda0hf07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37286,441,212 - 86,441,286UniSTSGRCh37
Build 36286,294,723 - 86,294,797RGDNCBI36
Celera286,269,347 - 86,269,421RGD
Cytogenetic Map2p11.2UniSTS
HuRef286,338,676 - 86,338,750UniSTS
GeneMap99-GB4 RH Map2299.76UniSTS
NCBI RH Map2460.4UniSTS
G19700  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37286,442,284 - 86,442,396UniSTSGRCh37
Build 36286,295,795 - 86,295,907RGDNCBI36
Celera286,270,419 - 86,270,531RGD
Cytogenetic Map2p11.2UniSTS
HuRef286,339,748 - 86,339,860UniSTS
A001V44  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37286,442,284 - 86,442,396UniSTSGRCh37
Build 36286,295,795 - 86,295,907RGDNCBI36
Celera286,270,419 - 86,270,531RGD
Cytogenetic Map2p11.2UniSTS
HuRef286,339,748 - 86,339,860UniSTS
GeneMap99-GB4 RH Map2299.76UniSTS
NCBI RH Map2460.4UniSTS
STS-M78559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37286,540,550 - 86,540,609UniSTSGRCh37
Build 36286,394,061 - 86,394,120RGDNCBI36
Celera286,368,590 - 86,368,649RGD
Cytogenetic Map2p11.2UniSTS
HuRef286,437,841 - 86,437,900UniSTS
GeneMap99-GB4 RH Map2321.73UniSTS
NCBI RH Map2460.4UniSTS
D2S1432  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37286,511,992 - 86,512,201UniSTSGRCh37
Build 36286,365,503 - 86,365,712RGDNCBI36
Celera286,340,040 - 86,340,249RGD
Cytogenetic Map2p11.2UniSTS
HuRef286,409,297 - 86,409,506UniSTS
Whitehead-YAC Contig Map2 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6363
Count of miRNA genes:1124
Interacting mature miRNAs:1393
Transcripts:ENST00000165698, ENST00000428491, ENST00000437769, ENST00000453231, ENST00000473407, ENST00000475475, ENST00000489855, ENST00000490915, ENST00000535845, ENST00000538924, ENST00000540790, ENST00000541910
Prediction methods: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 1636 1435 260 3 58 3 867 1117 2139 24 689 95 1 180 789 2
Low 724 787 1136 351 605 200 3369 1050 1561 303 697 1404 159 1 1003 1990 4 1
Below cutoff 51 722 312 257 1090 250 102 22 29 80 66 86 13 21 9

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB073662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY562239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC139746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI493883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA495719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB078037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN734426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000165698   ⟹   ENSP00000165698
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl286,213,993 - 86,337,654 (-)Ensembl
RefSeq Acc Id: ENST00000453231   ⟹   ENSP00000392197
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl286,216,794 - 86,338,083 (-)Ensembl
RefSeq Acc Id: ENST00000473407
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl286,232,734 - 86,337,469 (-)Ensembl
RefSeq Acc Id: ENST00000475475
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl286,263,994 - 86,337,065 (-)Ensembl
RefSeq Acc Id: ENST00000489855   ⟹   ENSP00000475269
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl286,251,352 - 86,282,210 (-)Ensembl
RefSeq Acc Id: ENST00000490915
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl286,232,676 - 86,255,018 (-)Ensembl
RefSeq Acc Id: ENST00000535845   ⟹   ENSP00000437567
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl286,216,554 - 86,337,627 (-)Ensembl
RefSeq Acc Id: ENST00000538924   ⟹   ENSP00000438346
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl286,213,993 - 86,337,626 (-)Ensembl
RefSeq Acc Id: ENST00000541910   ⟹   ENSP00000442681
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl286,216,581 - 86,337,589 (-)Ensembl
RefSeq Acc Id: ENST00000642243   ⟹   ENSP00000494960
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl286,216,517 - 86,282,232 (-)Ensembl
RefSeq Acc Id: ENST00000643817   ⟹   ENSP00000495610
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl286,215,618 - 86,282,232 (-)Ensembl
RefSeq Acc Id: ENST00000644644   ⟹   ENSP00000494305
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl286,215,319 - 86,282,232 (-)Ensembl
RefSeq Acc Id: ENST00000646181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl286,214,251 - 86,223,785 (-)Ensembl
RefSeq Acc Id: NM_001164730   ⟹   NP_001158202
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38286,213,993 - 86,338,083 (-)NCBI
GRCh37286,441,116 - 86,565,206 (-)NCBI
HuRef286,338,580 - 86,462,643 (-)ENTREZGENE
CHM1_1286,370,561 - 86,495,314 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001164731   ⟹   NP_001158203
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38286,213,993 - 86,337,626 (-)NCBI
GRCh37286,441,116 - 86,565,206 (-)NCBI
HuRef286,338,580 - 86,462,643 (-)ENTREZGENE
CHM1_1286,370,561 - 86,494,885 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001164732   ⟹   NP_001158204
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38286,213,993 - 86,337,626 (-)NCBI
GRCh37286,441,116 - 86,565,206 (-)NCBI
HuRef286,338,580 - 86,462,643 (-)ENTREZGENE
CHM1_1286,370,561 - 86,494,885 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371279   ⟹   NP_001358208
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38286,213,993 - 86,337,626 (-)NCBI
RefSeq Acc Id: NM_001371280   ⟹   NP_001358209
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38286,213,993 - 86,337,626 (-)NCBI
RefSeq Acc Id: NM_022912   ⟹   NP_075063
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38286,213,993 - 86,337,626 (-)NCBI
GRCh37286,441,116 - 86,565,206 (-)ENTREZGENE
GRCh37286,441,116 - 86,565,206 (-)NCBI
Build 36286,294,633 - 86,418,288 (-)NCBI Archive
HuRef286,338,580 - 86,462,643 (-)ENTREZGENE
CHM1_1286,370,561 - 86,494,885 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005264504   ⟹   XP_005264561
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38286,213,993 - 86,297,762 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533044   ⟹   XP_011531346
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38286,213,993 - 86,285,612 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533045   ⟹   XP_011531347
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38286,213,993 - 86,297,766 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004725   ⟹   XP_016860214
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38286,213,993 - 86,337,065 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004726   ⟹   XP_016860215
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38286,216,840 - 86,337,065 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004727   ⟹   XP_016860216
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38286,213,993 - 86,337,065 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001158202 (Get FASTA)   NCBI Sequence Viewer  
  NP_001158203 (Get FASTA)   NCBI Sequence Viewer  
  NP_001158204 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358208 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358209 (Get FASTA)   NCBI Sequence Viewer  
  NP_075063 (Get FASTA)   NCBI Sequence Viewer  
  XP_005264561 (Get FASTA)   NCBI Sequence Viewer  
  XP_011531346 (Get FASTA)   NCBI Sequence Viewer  
  XP_011531347 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860214 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860215 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860216 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH64846 (Get FASTA)   NCBI Sequence Viewer  
  AAI39747 (Get FASTA)   NCBI Sequence Viewer  
  AAT70684 (Get FASTA)   NCBI Sequence Viewer  
  AAX93132 (Get FASTA)   NCBI Sequence Viewer  
  BAB14444 (Get FASTA)   NCBI Sequence Viewer  
  BAH11727 (Get FASTA)   NCBI Sequence Viewer  
  BAH12523 (Get FASTA)   NCBI Sequence Viewer  
  BAH12538 (Get FASTA)   NCBI Sequence Viewer  
  BAH12561 (Get FASTA)   NCBI Sequence Viewer  
  BAH12565 (Get FASTA)   NCBI Sequence Viewer  
  BAH13005 (Get FASTA)   NCBI Sequence Viewer  
  CAG33582 (Get FASTA)   NCBI Sequence Viewer  
  EAW99457 (Get FASTA)   NCBI Sequence Viewer  
  EAW99458 (Get FASTA)   NCBI Sequence Viewer  
  Q9H902 (Get FASTA)   NCBI Sequence Viewer  
  QJB23391 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001158202   ⟸   NM_001164730
- Peptide Label: isoform 1
- UniProtKB: Q9H902 (UniProtKB/Swiss-Prot),   E7EUF7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001158204   ⟸   NM_001164732
- Peptide Label: isoform 4
- UniProtKB: Q9H902 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_075063   ⟸   NM_022912
- Peptide Label: isoform 2
- UniProtKB: Q9H902 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001158203   ⟸   NM_001164731
- Peptide Label: isoform 3
- UniProtKB: Q9H902 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005264561   ⟸   XM_005264504
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011531347   ⟸   XM_011533045
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011531346   ⟸   XM_011533044
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016860216   ⟸   XM_017004727
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016860214   ⟸   XM_017004725
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016860215   ⟸   XM_017004726
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001358209   ⟸   NM_001371280
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001358208   ⟸   NM_001371279
- Peptide Label: isoform 5
RefSeq Acc Id: ENSP00000442681   ⟸   ENST00000541910
RefSeq Acc Id: ENSP00000392197   ⟸   ENST00000453231
RefSeq Acc Id: ENSP00000165698   ⟸   ENST00000165698
RefSeq Acc Id: ENSP00000437567   ⟸   ENST00000535845
RefSeq Acc Id: ENSP00000494960   ⟸   ENST00000642243
RefSeq Acc Id: ENSP00000438346   ⟸   ENST00000538924
RefSeq Acc Id: ENSP00000495610   ⟸   ENST00000643817
RefSeq Acc Id: ENSP00000494305   ⟸   ENST00000644644
RefSeq Acc Id: ENSP00000475269   ⟸   ENST00000489855

Promoters
RGD ID:6860942
Promoter ID:EPDNEW_H3636
Type:initiation region
Name:REEP1_1
Description:receptor accessory protein 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
GRCh38286,337,626 - 86,337,686EPDNEW
RGD ID:6798069
Promoter ID:HG_KWN:33612
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_001164730,   NM_001164731,   NM_001164732,   OTTHUMT00000252523,   OTTHUMT00000329996,   OTTHUMT00000329997,   OTTHUMT00000329998,   OTTHUMT00000329999,   OTTHUMT00000330002,   OTTHUMT00000343573
Position:
Human AssemblyChrPosition (strand)Source
Build 36286,417,981 - 86,418,481 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001371279.1(REEP1):c.58G>C (p.Ala20Pro) single nucleotide variant Hereditary spastic paraplegia [RCV000516005] Chr2:86282217 [GRCh38]
Chr2:86509340 [GRCh37]
Chr2:2p11.2
likely pathogenic
NM_001371279.1(REEP1):c.303+1_303+7delinsAC indel not provided [RCV000201929] Chr2:86254687..86254693 [GRCh38]
Chr2:86481810..86481816 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.304-2A>G single nucleotide variant Charcot-Marie-Tooth disease [RCV000789557]|Distal hereditary motor neuronopathy type 5B [RCV000029244] Chr2:86252072 [GRCh38]
Chr2:86479195 [GRCh37]
Chr2:2p11.2
pathogenic|uncertain significance
NM_001371279.1(REEP1):c.512del (p.Pro171fs) deletion Spastic paraplegia 31, autosomal dominant [RCV000001936] Chr2:86232708 [GRCh38]
Chr2:86459831 [GRCh37]
Chr2:2p11.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001371279.1(REEP1):c.183-2A>G single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000001937] Chr2:86254816 [GRCh38]
Chr2:86481939 [GRCh37]
Chr2:2p11.2
pathogenic
NM_001371279.1(REEP1):c.837G>T (p.Ser279=) single nucleotide variant Distal hereditary motor neuronopathy type 5B [RCV001333150]|Spastic paraplegia 31, autosomal dominant [RCV000001938]|not specified [RCV000200803] Chr2:86217057 [GRCh38]
Chr2:86444180 [GRCh37]
Chr2:2p11.2
pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000001939]|Spastic paraplegia [RCV001003951]|not provided [RCV000713454] Chr2:86282216 [GRCh38]
Chr2:86509339 [GRCh37]
Chr2:2p11.2
pathogenic
NM_001371279.1(REEP1):c.337C>T (p.Arg113Ter) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000001940] Chr2:86252037 [GRCh38]
Chr2:86479160 [GRCh37]
Chr2:2p11.2
pathogenic
NM_001371279.1(REEP1):c.200A>T (p.Glu67Val) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000641688] Chr2:86254797 [GRCh38]
Chr2:86481920 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.-50_-26dup duplication not provided [RCV000520719] Chr2:86337535..86337536 [GRCh38]
Chr2:86564658..86564659 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.194A>G (p.Tyr65Cys) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000554008] Chr2:86254803 [GRCh38]
Chr2:86481926 [GRCh37]
Chr2:2p11.2
uncertain significance
GRCh38/hg38 2p11.2(chr2:86026429-86242094)x4 copy number gain See cases [RCV000052665] Chr2:86026429..86242094 [GRCh38]
Chr2:86253552..86469217 [GRCh37]
Chr2:86107063..86322728 [NCBI36]
Chr2:2p11.2
uncertain significance
GRCh38/hg38 2p11.2(chr2:86073968-86251223)x3 copy number gain See cases [RCV000052666] Chr2:86073968..86251223 [GRCh38]
Chr2:86301091..86478346 [GRCh37]
Chr2:86154602..86331857 [NCBI36]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.285G>A (p.Thr95=) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000576773]|none provided [RCV001285986]|not specified [RCV000118136] Chr2:86254712 [GRCh38]
Chr2:86481835 [GRCh37]
Chr2:2p11.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001371279.1(REEP1):c.784-19T>G single nucleotide variant not specified [RCV000127759] Chr2:86217129 [GRCh38]
Chr2:86444252 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.206A>C (p.Lys69Thr) single nucleotide variant Distal hereditary motor neuronopathy type 5B [RCV001331266] Chr2:86254791 [GRCh38]
Chr2:86481914 [GRCh37]
Chr2:2p11.2
uncertain significance
GRCh38/hg38 2p11.2(chr2:86078247-86282144)x3 copy number gain See cases [RCV000135364] Chr2:86078247..86282144 [GRCh38]
Chr2:86305370..86509267 [GRCh37]
Chr2:86158881..86362778 [NCBI36]
Chr2:2p11.2
uncertain significance
GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3 copy number gain See cases [RCV000134786] Chr2:77025216..90282666 [GRCh38]
Chr2:77252342..91619262 [GRCh37]
Chr2:77105850..90982989 [NCBI36]
Chr2:2p12-11.2
pathogenic
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2
uncertain significance
GRCh38/hg38 2p11.2(chr2:86062007-86282203)x3 copy number gain See cases [RCV000139214] Chr2:86062007..86282203 [GRCh38]
Chr2:86289130..86509326 [GRCh37]
Chr2:86142641..86362837 [NCBI36]
Chr2:2p11.2
uncertain significance
GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1 copy number loss See cases [RCV000141948] Chr2:85014686..88826619 [GRCh38]
Chr2:85241809..89126132 [GRCh37]
Chr2:85095320..88907247 [NCBI36]
Chr2:2p11.2
pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p11.2(chr2:86062007-86282203)x4 copy number gain See cases [RCV000142984] Chr2:86062007..86282203 [GRCh38]
Chr2:86289130..86509326 [GRCh37]
Chr2:86142641..86362837 [NCBI36]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.415A>T (p.Lys139Ter) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000167976] Chr2:86251959 [GRCh38]
Chr2:86479082 [GRCh37]
Chr2:2p11.2
pathogenic
NM_001371279.1(REEP1):c.*906C>T single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000262189] Chr2:86216133 [GRCh38]
Chr2:86443256 [GRCh37]
Chr2:2p11.2
benign|likely benign
NM_022912.2(REEP1):c.-35_-34insAGCCG insertion not specified [RCV000200639] Chr2:86337544..86337545 [GRCh38]
Chr2:86564667..86564668 [GRCh37]
Chr2:2p11.2
benign
NM_001164730.2(REEP1):c.53+17G>T single nucleotide variant not specified [RCV000197069] Chr2:86338007 [GRCh38]
Chr2:86565130 [GRCh37]
Chr2:2p11.2
benign
NM_022912.2(REEP1):c.284C>T (p.Thr95Met) single nucleotide variant not specified [RCV000197257] Chr2:86254713 [GRCh38]
Chr2:86481836 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.396G>A (p.Ala132=) single nucleotide variant not provided [RCV000197628]|not specified [RCV000442050] Chr2:86251978 [GRCh38]
Chr2:86479101 [GRCh37]
Chr2:2p11.2
likely pathogenic|likely benign|uncertain significance
NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000986787]|not provided [RCV000415754]|not specified [RCV000198109] Chr2:86217050 [GRCh38]
Chr2:86444173 [GRCh37]
Chr2:2p11.2
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001371279.1(REEP1):c.547G>A (p.Gly183Ser) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001228818] Chr2:86232673 [GRCh38]
Chr2:86459796 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_022912.2(REEP1):c.303G>T (p.Lys101Asn) single nucleotide variant not provided [RCV000199135] Chr2:86254694 [GRCh38]
Chr2:86481817 [GRCh37]
Chr2:2p11.2
likely pathogenic
NM_001371279.1(REEP1):c.10T>G (p.Trp4Gly) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000641687]|not provided [RCV000195547] Chr2:86337501 [GRCh38]
Chr2:86564624 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.582C>T (p.Ser194=) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000383982]|not provided [RCV000868442]|not specified [RCV000354302] Chr2:86232638 [GRCh38]
Chr2:86459761 [GRCh37]
Chr2:2p11.2
benign|likely benign
NM_001371279.1(REEP1):c.424G>C (p.Gly142Arg) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000204692] Chr2:86232796 [GRCh38]
Chr2:86459919 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.486C>T (p.Asp162=) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000203687]|not specified [RCV000443521] Chr2:86232734 [GRCh38]
Chr2:86459857 [GRCh37]
Chr2:2p11.2
benign|likely benign
NM_001371279.1(REEP1):c.595+1G>A single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000210477] Chr2:86232624 [GRCh38]
Chr2:86459747 [GRCh37]
Chr2:2p11.2
pathogenic
NM_001371279.1(REEP1):c.529C>T (p.Arg177Trp) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001086893]|not provided [RCV000236570] Chr2:86232691 [GRCh38]
Chr2:86459814 [GRCh37]
Chr2:2p11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001371279.1(REEP1):c.264C>G (p.Tyr88Ter) single nucleotide variant not provided [RCV000236987] Chr2:86254733 [GRCh38]
Chr2:86481856 [GRCh37]
Chr2:2p11.2
likely pathogenic
NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790184]|Spastic paraplegia 31, autosomal dominant [RCV000681482]|Spasticity [RCV000657159] Chr2:86217101 [GRCh38]
Chr2:86444224 [GRCh37]
Chr2:2p11.2
pathogenic|uncertain significance
GRCh37/hg19 2p11.2(chr2:86298862-86509326)x3 copy number gain See cases [RCV000239871] Chr2:86298862..86509326 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*2513G>A single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000284923] Chr2:86214526 [GRCh38]
Chr2:86441649 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.*94T>C single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000269579]|not provided [RCV000713451] Chr2:86216945 [GRCh38]
Chr2:86444068 [GRCh37]
Chr2:2p11.2
benign|likely benign
NM_001371279.1(REEP1):c.784-17T>G single nucleotide variant not specified [RCV000242509] Chr2:86217127 [GRCh38]
Chr2:86444250 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.*630G>A single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000265997] Chr2:86216409 [GRCh38]
Chr2:86443532 [GRCh37]
Chr2:2p11.2
benign
GRCh37/hg19 2p11.2(chr2:86441169-86509452)x3 copy number gain See cases [RCV000240227] Chr2:86441169..86509452 [GRCh37]
Chr2:2p11.2
pathogenic
GRCh37/hg19 2p11.2(chr2:86269067-86509326)x3 copy number gain See cases [RCV000240383] Chr2:86269067..86509326 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*2766T>C single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000373629] Chr2:86214273 [GRCh38]
Chr2:86441396 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.*1257C>T single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000398181] Chr2:86215782 [GRCh38]
Chr2:86442905 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.*737T>C single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000301169] Chr2:86216302 [GRCh38]
Chr2:86443425 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.*954G>A single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000354655] Chr2:86216085 [GRCh38]
Chr2:86443208 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.*2825A>C single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000316636] Chr2:86214214 [GRCh38]
Chr2:86441337 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.*165del deletion Spastic paraplegia, autosomal dominant [RCV000380401] Chr2:86216874 [GRCh38]
Chr2:86443997 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.*1415G>T single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000289121] Chr2:86215624 [GRCh38]
Chr2:86442747 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.*2579T>C single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000338662] Chr2:86214460 [GRCh38]
Chr2:86441583 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.*663G>C single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000358372] Chr2:86216376 [GRCh38]
Chr2:86443499 [GRCh37]
Chr2:2p11.2
benign|likely benign
NM_001371279.1(REEP1):c.*2015del deletion Spastic paraplegia, autosomal dominant [RCV000320297] Chr2:86215024 [GRCh38]
Chr2:86442147 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.*2380C>T single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000306877] Chr2:86214659 [GRCh38]
Chr2:86441782 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*2485G>A single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000341997] Chr2:86214554 [GRCh38]
Chr2:86441677 [GRCh37]
Chr2:2p11.2
benign|likely benign
NM_001371279.1(REEP1):c.*1614G>A single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000342941] Chr2:86215425 [GRCh38]
Chr2:86442548 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.*2310C>T single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000363857] Chr2:86214729 [GRCh38]
Chr2:86441852 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*2859T>G single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000388753] Chr2:86214180 [GRCh38]
Chr2:86441303 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.*1325T>C single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000346223] Chr2:86215714 [GRCh38]
Chr2:86442837 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.*2131G>A single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000367467] Chr2:86214908 [GRCh38]
Chr2:86442031 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.*2189C>A single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000310606] Chr2:86214850 [GRCh38]
Chr2:86441973 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*2995T>C single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000329599] Chr2:86214044 [GRCh38]
Chr2:86441167 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.417+15G>C single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000348308] Chr2:86251942 [GRCh38]
Chr2:86479065 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*2824_*2827dup duplication Spastic paraplegia, autosomal dominant [RCV000296783] Chr2:86214211..86214212 [GRCh38]
Chr2:86441334..86441335 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.*1217A>G single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000311298] Chr2:86215822 [GRCh38]
Chr2:86442945 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.*2457G>C single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000395031] Chr2:86214582 [GRCh38]
Chr2:86441705 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.*2200C>A single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000395033] Chr2:86214839 [GRCh38]
Chr2:86441962 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*965G>A single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000297528] Chr2:86216074 [GRCh38]
Chr2:86443197 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.*2733A>C single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000281303] Chr2:86214306 [GRCh38]
Chr2:86441429 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*2016_*2017insA insertion Spastic paraplegia, autosomal dominant [RCV000259577] Chr2:86215022..86215023 [GRCh38]
Chr2:86442145..86442146 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*2014_*2016del deletion Spastic paraplegia, autosomal dominant [RCV000281639] Chr2:86215023..86215025 [GRCh38]
Chr2:86442146..86442148 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*2049dup duplication Spastic paraplegia, autosomal dominant [RCV000332274] Chr2:86214989..86214990 [GRCh38]
Chr2:86442112..86442113 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.*2050_*2051insT insertion Spastic paraplegia, autosomal dominant [RCV000275325] Chr2:86214988..86214989 [GRCh38]
Chr2:86442111..86442112 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.518C>T (p.Pro173Leu) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000531522]|not specified [RCV000611545] Chr2:86232702 [GRCh38]
Chr2:86459825 [GRCh37]
Chr2:2p11.2
likely benign|uncertain significance
NM_001371279.1(REEP1):c.198T>C (p.Tyr66=) single nucleotide variant not provided [RCV000514797] Chr2:86254799 [GRCh38]
Chr2:86481922 [GRCh37]
Chr2:2p11.2
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
NM_001371279.1(REEP1):c.105+1G>A single nucleotide variant not provided [RCV000488112] Chr2:86282169 [GRCh38]
Chr2:86509292 [GRCh37]
Chr2:2p11.2
likely pathogenic
NM_001371279.1(REEP1):c.303+2T>C single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001271098] Chr2:86254692 [GRCh38]
Chr2:86481815 [GRCh37]
Chr2:2p11.2
pathogenic
NM_001371279.1(REEP1):c.*2016del deletion Spastic paraplegia, autosomal dominant [RCV000317188] Chr2:86215023 [GRCh38]
Chr2:86442146 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*1519T>C single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000402640] Chr2:86215520 [GRCh38]
Chr2:86442643 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.149C>T (p.Thr50Ile) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000294516] Chr2:86263998 [GRCh38]
Chr2:86491121 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*2558A>G single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000403984] Chr2:86214481 [GRCh38]
Chr2:86441604 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*1163A>G single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000368340] Chr2:86215876 [GRCh38]
Chr2:86442999 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*1853A>T single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000285619] Chr2:86215186 [GRCh38]
Chr2:86442309 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*2022del deletion Spastic paraplegia, autosomal dominant [RCV000370530] Chr2:86215017 [GRCh38]
Chr2:86442140 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.-44_-40AGCCG[3] microsatellite Spastic paraplegia, autosomal dominant [RCV000352797]|not specified [RCV000200639] Chr2:86337544..86337545 [GRCh38]
Chr2:86564667..86564668 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.*389_*390CA[1] microsatellite Spastic paraplegia, autosomal dominant [RCV000323376] Chr2:86216647..86216648 [GRCh38]
Chr2:86443770..86443771 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*2015_*2016del deletion Spastic paraplegia, autosomal dominant [RCV000374168] Chr2:86215023..86215024 [GRCh38]
Chr2:86442146..86442147 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*1992del deletion Spastic paraplegia, autosomal dominant [RCV000377197] Chr2:86215047 [GRCh38]
Chr2:86442170 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*1020_*1021CA[2] microsatellite Spastic paraplegia, autosomal dominant [RCV000398186] Chr2:86216014..86216015 [GRCh38]
Chr2:86443137..86443138 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.542A>C (p.Lys181Thr) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000641690] Chr2:86232678 [GRCh38]
Chr2:86459801 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.322G>A (p.Val108Ile) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000641686] Chr2:86252052 [GRCh38]
Chr2:86479175 [GRCh37]
Chr2:2p11.2
uncertain significance
NC_000002.12:g.(?_86263945)_(86264061_?)del deletion Spastic paraplegia 31, autosomal dominant [RCV000533068] Chr2:86263945..86264061 [GRCh38]
Chr2:86491068..86491184 [GRCh37]
Chr2:2p11.2
pathogenic
NM_001371279.1(REEP1):c.49C>A (p.Leu17Ile) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000557746] Chr2:86282226 [GRCh38]
Chr2:86509349 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.231G>A (p.Leu77=) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001084794]|not provided [RCV000732935] Chr2:86254766 [GRCh38]
Chr2:86481889 [GRCh37]
Chr2:2p11.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001371279.1(REEP1):c.408T>A (p.Ala136=) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000641689]|not specified [RCV000437729] Chr2:86251966 [GRCh38]
Chr2:86479089 [GRCh37]
Chr2:2p11.2
likely benign|uncertain significance
NM_001371279.1(REEP1):c.784-16C>T single nucleotide variant not specified [RCV000421375] Chr2:86217126 [GRCh38]
Chr2:86444249 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.156G>A (p.Glu52=) single nucleotide variant not specified [RCV000442570] Chr2:86263991 [GRCh38]
Chr2:86491114 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.270G>A (p.Lys90=) single nucleotide variant not specified [RCV000439161] Chr2:86254727 [GRCh38]
Chr2:86481850 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.-15G>A single nucleotide variant not specified [RCV000432284] Chr2:86337525 [GRCh38]
Chr2:86564648 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.483A>G (p.Gly161=) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000547035]|not specified [RCV000443019] Chr2:86232737 [GRCh38]
Chr2:86459860 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.182+16G>T single nucleotide variant not specified [RCV000435912] Chr2:86263949 [GRCh38]
Chr2:86491072 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.32+14T>A single nucleotide variant not specified [RCV000439444] Chr2:86337465 [GRCh38]
Chr2:86564588 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.32+19C>G single nucleotide variant not specified [RCV000422193] Chr2:86337460 [GRCh38]
Chr2:86564583 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.381C>T (p.Asn127=) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000532314]|not specified [RCV000429413] Chr2:86251993 [GRCh38]
Chr2:86479116 [GRCh37]
Chr2:2p11.2
benign
GRCh37/hg19 2p11.2(chr2:86298862-86509267)x3 copy number gain See cases [RCV000447699] Chr2:86298862..86509267 [GRCh37]
Chr2:2p11.2
uncertain significance
GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 copy number gain See cases [RCV000448688] Chr2:62245236..86978895 [GRCh37]
Chr2:2p15-11.2
pathogenic
NM_001371279.1(REEP1):c.56C>G (p.Pro19Arg) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000466973] Chr2:86282219 [GRCh38]
Chr2:86509342 [GRCh37]
Chr2:2p11.2
likely pathogenic
NM_001371279.1(REEP1):c.538_553del (p.Gly180fs) deletion Spastic paraplegia 31, autosomal dominant [RCV000460326]|not provided [RCV000498050] Chr2:86232667..86232682 [GRCh38]
Chr2:86459790..86459805 [GRCh37]
Chr2:2p11.2
likely pathogenic
NC_000002.11:g.(?_86441116)_(86509365_?)dup duplication Spastic paraplegia 31, autosomal dominant [RCV000471787] Chr2:86213993..86282242 [GRCh38]
Chr2:86441116..86509365 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.113G>A (p.Trp38Ter) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000457155] Chr2:86264034 [GRCh38]
Chr2:86491157 [GRCh37]
Chr2:2p11.2
pathogenic
NM_001371279.1(REEP1):c.166G>A (p.Asp56Asn) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000465053] Chr2:86263981 [GRCh38]
Chr2:86491104 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.-35_-34delinsTT indel not specified [RCV000482104] Chr2:86337544..86337545 [GRCh38]
Chr2:86564667..86564668 [GRCh37]
Chr2:2p11.2
likely benign
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
NM_001371279.1(REEP1):c.440G>T (p.Arg147Ile) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000473114] Chr2:86232780 [GRCh38]
Chr2:86459903 [GRCh37]
Chr2:2p11.2
uncertain significance
GRCh37/hg19 2p11.2(chr2:86285942-86516984)x3 copy number gain See cases [RCV000511574] Chr2:86285942..86516984 [GRCh37]
Chr2:2p11.2
conflicting data from submitters
GRCh37/hg19 2p11.2(chr2:86286440-86505779)x3 copy number gain See cases [RCV000511435] Chr2:86286440..86505779 [GRCh37]
Chr2:2p11.2
uncertain significance
GRCh37/hg19 2p11.2(chr2:86285942-86519246)x3 copy number gain See cases [RCV000511951] Chr2:86285942..86519246 [GRCh37]
Chr2:2p11.2
uncertain significance
GRCh37/hg19 2p11.2(chr2:86285942-86506131)x3 copy number gain See cases [RCV000511237] Chr2:86285942..86506131 [GRCh37]
Chr2:2p11.2
likely benign
GRCh37/hg19 2p11.2(chr2:86285942-86519023)x4 copy number gain See cases [RCV000510988] Chr2:86285942..86519023 [GRCh37]
Chr2:2p11.2
uncertain significance
GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1 copy number loss See cases [RCV000510763] Chr2:74365484..89129064 [GRCh37]
Chr2:2p13.1-11.2
pathogenic
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
NM_001371279.1(REEP1):c.583G>T (p.Ala195Ser) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000641683] Chr2:86232637 [GRCh38]
Chr2:86459760 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.363C>T (p.Phe121=) single nucleotide variant not specified [RCV000612251] Chr2:86252011 [GRCh38]
Chr2:86479134 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.784-18_784-15del deletion none provided [RCV001286425]|not specified [RCV000613579] Chr2:86217125..86217128 [GRCh38]
Chr2:86444248..86444251 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.106-7T>A single nucleotide variant not provided [RCV000641692] Chr2:86264048 [GRCh38]
Chr2:86491171 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.176T>C (p.Leu59Pro) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000641685] Chr2:86263971 [GRCh38]
Chr2:86491094 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.400G>A (p.Val134Met) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000641681] Chr2:86251974 [GRCh38]
Chr2:86479097 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.418-13G>A single nucleotide variant not specified [RCV000611272] Chr2:86232815 [GRCh38]
Chr2:86459938 [GRCh37]
Chr2:2p11.2
likely benign
GRCh37/hg19 2p11.2(chr2:86285942-86506132)x4 copy number gain See cases [RCV000512549] Chr2:86285942..86506132 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.*4A>G single nucleotide variant not provided [RCV000512989] Chr2:86217035 [GRCh38]
Chr2:86444158 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.353T>G (p.Leu118Arg) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000641691] Chr2:86252021 [GRCh38]
Chr2:86479144 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.60G>A (p.Ala20=) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000641693] Chr2:86282215 [GRCh38]
Chr2:86509338 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.287T>C (p.Leu96Pro) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000641684] Chr2:86254710 [GRCh38]
Chr2:86481833 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.392C>T (p.Thr131Ile) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000641682] Chr2:86251982 [GRCh38]
Chr2:86479105 [GRCh37]
Chr2:2p11.2
uncertain significance
GRCh37/hg19 2p11.2(chr2:86286136-86516984)x3 copy number gain See cases [RCV000512482] Chr2:86286136..86516984 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.136G>A (p.Ala46Thr) single nucleotide variant not provided [RCV000713452] Chr2:86264011 [GRCh38]
Chr2:86491134 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.521G>C (p.Gly174Ala) single nucleotide variant not provided [RCV000713453] Chr2:86232699 [GRCh38]
Chr2:86459822 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.489C>T (p.Gly163=) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000684886] Chr2:86232731 [GRCh38]
Chr2:86459854 [GRCh37]
Chr2:2p11.2
uncertain significance
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1 copy number loss not provided [RCV000682167] Chr2:74527522..89125488 [GRCh37]
Chr2:2p13.1-11.2
pathogenic
NM_001371279.1(REEP1):c.289T>C (p.Ser97Pro) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000701951] Chr2:86254708 [GRCh38]
Chr2:86481831 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.445C>T (p.Arg149Trp) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000699719] Chr2:86232775 [GRCh38]
Chr2:86459898 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.373G>A (p.Gly125Ser) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000686564] Chr2:86252001 [GRCh38]
Chr2:86479124 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.391A>G (p.Thr131Ala) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000698241] Chr2:86251983 [GRCh38]
Chr2:86479106 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.371G>A (p.Arg124Gln) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000701587] Chr2:86252003 [GRCh38]
Chr2:86479126 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.495del (p.Ala166fs) deletion Spastic paraplegia 31, autosomal dominant [RCV000703294] Chr2:86232725 [GRCh38]
Chr2:86459848 [GRCh37]
Chr2:2p11.2
pathogenic|likely pathogenic
NC_000002.12:g.(?_86217019)_(86217130_?)del deletion Spastic paraplegia 31, autosomal dominant [RCV000707797] Chr2:86217019..86217130 [GRCh38]
Chr2:86444142..86444253 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.540C>T (p.Gly180=) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000689523] Chr2:86232680 [GRCh38]
Chr2:86459803 [GRCh37]
Chr2:2p11.2
uncertain significance
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 2p11.2(chr2:86292656-86498780)x3 copy number gain not provided [RCV000740515] Chr2:86292656..86498780 [GRCh37]
Chr2:2p11.2
benign
GRCh37/hg19 2p11.2(chr2:86292656-86508961)x3 copy number gain not provided [RCV000740516] Chr2:86292656..86508961 [GRCh37]
Chr2:2p11.2
benign
GRCh37/hg19 2p11.2(chr2:86296566-86509501)x3 copy number gain not provided [RCV000740517] Chr2:86296566..86509501 [GRCh37]
Chr2:2p11.2
benign
GRCh37/hg19 2p11.2(chr2:86502663-87430727)x1 copy number loss not provided [RCV000740518] Chr2:86502663..87430727 [GRCh37]
Chr2:2p11.2
likely pathogenic
NM_001371279.1(REEP1):c.435G>A (p.Ser145=) single nucleotide variant not provided [RCV000874925] Chr2:86232785 [GRCh38]
Chr2:86459908 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.791del (p.Pro264fs) deletion Spastic paraplegia 31, autosomal dominant [RCV000754868] Chr2:86217103 [GRCh38]
Chr2:86444226 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.182G>A (p.Trp61Ter) single nucleotide variant not provided [RCV000760593] Chr2:86263965 [GRCh38]
Chr2:86491088 [GRCh37]
Chr2:2p11.2
pathogenic
NM_001371279.1(REEP1):c.341G>A (p.Ser114Asn) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001043828] Chr2:86252033 [GRCh38]
Chr2:86479156 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.449G>A (p.Ser150Asn) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001039769] Chr2:86232771 [GRCh38]
Chr2:86459894 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.353T>C (p.Leu118Pro) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001060595] Chr2:86252021 [GRCh38]
Chr2:86479144 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.789G>A (p.Pro263=) single nucleotide variant Polyneuropathy [RCV000856699] Chr2:86217105 [GRCh38]
Chr2:86444228 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.183-13TC[6] microsatellite not provided [RCV000975549] Chr2:86254817..86254818 [GRCh38]
Chr2:86481940..86481941 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.240C>T (p.Tyr80=) single nucleotide variant not provided [RCV000867976] Chr2:86254757 [GRCh38]
Chr2:86481880 [GRCh37]
Chr2:2p11.2
likely benign
NM_001371279.1(REEP1):c.105+214A>G single nucleotide variant not provided [RCV000828108] Chr2:86281956 [GRCh38]
Chr2:86509079 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.33-2A>G single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000793389]|Spastic paraplegia [RCV001003952] Chr2:86282244 [GRCh38]
Chr2:86509367 [GRCh37]
Chr2:2p11.2
likely pathogenic
NM_001371279.1(REEP1):c.76G>A (p.Ala26Thr) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000823273] Chr2:86282199 [GRCh38]
Chr2:86509322 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.417+211T>G single nucleotide variant not provided [RCV000828111] Chr2:86251746 [GRCh38]
Chr2:86478869 [GRCh37]
Chr2:2p11.2
benign
NC_000002.12:g.86338344T>C single nucleotide variant not provided [RCV000836129] Chr2:86338344 [GRCh38]
Chr2:86565467 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.105+191G>A single nucleotide variant not provided [RCV000836130] Chr2:86281979 [GRCh38]
Chr2:86509102 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.561G>A (p.Met187Ile) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000799896] Chr2:86232659 [GRCh38]
Chr2:86459782 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.32+244G>T single nucleotide variant not provided [RCV000833434] Chr2:86337235 [GRCh38]
Chr2:86564358 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.106-170C>A single nucleotide variant not provided [RCV000836824] Chr2:86264211 [GRCh38]
Chr2:86491334 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.417+178C>T single nucleotide variant not provided [RCV000828109] Chr2:86251779 [GRCh38]
Chr2:86478902 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.515del (p.Pro172fs) deletion Spastic paraplegia 31, autosomal dominant [RCV000808899] Chr2:86232705 [GRCh38]
Chr2:86459828 [GRCh37]
Chr2:2p11.2
likely pathogenic
NM_001371279.1(REEP1):c.843C>T (p.Thr281=) single nucleotide variant not provided [RCV000997182] Chr2:86217051 [GRCh38]
Chr2:86444174 [GRCh37]
Chr2:2p11.2
uncertain significance
NC_000002.12:g.(?_86337469)_(86337520_?)del deletion Spastic paraplegia 31, autosomal dominant [RCV000809985] Chr2:86337469..86337520 [GRCh38]
Chr2:86564592..86564643 [GRCh37]
Chr2:2p11.2
pathogenic
NM_001371279.1(REEP1):c.*1987G>A single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001137571] Chr2:86215052 [GRCh38]
Chr2:86442175 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.*1733T>C single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001137573] Chr2:86215306 [GRCh38]
Chr2:86442429 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.103T>A (p.Tyr35Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790185]|Spastic paraplegia 31, autosomal dominant [RCV001352073] Chr2:86282172 [GRCh38]
Chr2:86509295 [GRCh37]
Chr2:2p11.2
uncertain significance
NC_000002.11:g.(?_86444152)_(86509375_?)dup duplication Spastic paraplegia 31, autosomal dominant [RCV000797486] Chr2:86217029..86282252 [GRCh38]
Chr2:86444152..86509375 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.116T>G (p.Met39Arg) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV000811126]|not provided [RCV000993057] Chr2:86264031 [GRCh38]
Chr2:86491154 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.32+112G>T single nucleotide variant not provided [RCV000832758] Chr2:86337367 [GRCh38]
Chr2:86564490 [GRCh37]
Chr2:2p11.2
benign
NC_000002.12:g.(?_86217029)_(86232812_?)del deletion Spastic paraplegia 31, autosomal dominant [RCV001031211] Chr2:86444152..86459935 [GRCh37]
Chr2:2p11.2
likely pathogenic
GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1 copy number loss not provided [RCV000846587] Chr2:77907114..87330965 [GRCh37]
Chr2:2p12-11.2
pathogenic
NM_001371279.1(REEP1):c.2T>C (p.Met1Thr) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001210927]|not provided [RCV001268396] Chr2:86337509 [GRCh38]
Chr2:86564632 [GRCh37]
Chr2:2p11.2
likely pathogenic
NM_001371279.1(REEP1):c.418-3C>T single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001230094] Chr2:86232805 [GRCh38]
Chr2:86459928 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.32+5G>A single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001218464] Chr2:86337474 [GRCh38]
Chr2:86564597 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.250_253delinsCTCT (p.Ser84_Ser85delinsLeuCys) indel Spastic paraplegia 31, autosomal dominant [RCV001247121] Chr2:86254744..86254747 [GRCh38]
Chr2:86481867..86481870 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*509T>C single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001142431] Chr2:86216530 [GRCh38]
Chr2:86443653 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.379A>G (p.Asn127Asp) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001139904] Chr2:86251995 [GRCh38]
Chr2:86479118 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*2784G>A single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001140460] Chr2:86214255 [GRCh38]
Chr2:86441378 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.*1702C>T single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001137574] Chr2:86215337 [GRCh38]
Chr2:86442460 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*1526A>T single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001139802] Chr2:86215513 [GRCh38]
Chr2:86442636 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.355G>T (p.Val119Leu) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001214308] Chr2:86252019 [GRCh38]
Chr2:86479142 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*1119G>A single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001140575] Chr2:86215920 [GRCh38]
Chr2:86443043 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.195T>A (p.Tyr65Ter) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001224005] Chr2:86254802 [GRCh38]
Chr2:86481925 [GRCh37]
Chr2:2p11.2
pathogenic
NM_001371279.1(REEP1):c.*658C>G single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001142430] Chr2:86216381 [GRCh38]
Chr2:86443504 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.345C>A (p.Tyr115Ter) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001047463] Chr2:86252029 [GRCh38]
Chr2:86479152 [GRCh37]
Chr2:2p11.2
pathogenic
GRCh37/hg19 2p11.2(chr2:86286478-86516984)x3 copy number gain not provided [RCV001005292] Chr2:86286478..86516984 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*2434G>C single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001142317] Chr2:86214605 [GRCh38]
Chr2:86441728 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*864T>C single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001142428] Chr2:86216175 [GRCh38]
Chr2:86443298 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*1435G>A single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001139803] Chr2:86215604 [GRCh38]
Chr2:86442727 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*1533G>C single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001139801] Chr2:86215506 [GRCh38]
Chr2:86442629 [GRCh37]
Chr2:2p11.2
uncertain significance
NC_000002.12:g.(?_86251947)_(86254824_?)del deletion Spastic paraplegia 31, autosomal dominant [RCV001033631] Chr2:86479070..86481947 [GRCh37]
Chr2:2p11.2
pathogenic
NM_001371279.1(REEP1):c.*1819G>A single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001137572] Chr2:86215220 [GRCh38]
Chr2:86442343 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.836C>T (p.Ser279Leu) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001137684] Chr2:86217058 [GRCh38]
Chr2:86444181 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*787G>C single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001142429] Chr2:86216252 [GRCh38]
Chr2:86443375 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*93G>A single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001137683] Chr2:86216946 [GRCh38]
Chr2:86444069 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.106-2A>T single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001207713] Chr2:86264043 [GRCh38]
Chr2:86491166 [GRCh37]
Chr2:2p11.2
likely pathogenic
NM_001371279.1(REEP1):c.*1568T>A single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001139800] Chr2:86215471 [GRCh38]
Chr2:86442594 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.-4C>A single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001139905] Chr2:86337514 [GRCh38]
Chr2:86564637 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.853T>G (p.Ter285Gly) single nucleotide variant not provided [RCV001200634] Chr2:86217041 [GRCh38]
Chr2:86444164 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.340_347del (p.Ser114fs) deletion not provided [RCV001200635] Chr2:86252027..86252034 [GRCh38]
Chr2:86479150..86479157 [GRCh37]
Chr2:2p11.2
pathogenic
NM_001371279.1(REEP1):c.*2896C>T single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001140458] Chr2:86214143 [GRCh38]
Chr2:86441266 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.209T>G (p.Ile70Arg) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001052430] Chr2:86254788 [GRCh38]
Chr2:86481911 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*1398G>A single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001139804] Chr2:86215641 [GRCh38]
Chr2:86442764 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.-73G>T single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001139906] Chr2:86337583 [GRCh38]
Chr2:86564706 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.88A>C (p.Lys30Gln) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001064773] Chr2:86282187 [GRCh38]
Chr2:86509310 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*2357A>G single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001142318] Chr2:86214682 [GRCh38]
Chr2:86441805 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*2850T>G single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001140459] Chr2:86214189 [GRCh38]
Chr2:86441312 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*1330A>T single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001140574] Chr2:86215709 [GRCh38]
Chr2:86442832 [GRCh37]
Chr2:2p11.2
benign
NM_001371279.1(REEP1):c.59C>T (p.Ala20Val) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001213470] Chr2:86282216 [GRCh38]
Chr2:86509339 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*218C>T single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001137681] Chr2:86216821 [GRCh38]
Chr2:86443944 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*124C>G single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001137682] Chr2:86216915 [GRCh38]
Chr2:86444038 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.289T>G (p.Ser97Ala) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001042224] Chr2:86254708 [GRCh38]
Chr2:86481831 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*2967C>G single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001139695] Chr2:86214072 [GRCh38]
Chr2:86441195 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.164C>A (p.Thr55Lys) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001063448] Chr2:86263983 [GRCh38]
Chr2:86491106 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.329C>A (p.Ala110Glu) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001253597] Chr2:86252045 [GRCh38]
Chr2:86479168 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.255_266del (p.Ser85_Tyr88del) deletion Spastic paraplegia 31, autosomal dominant [RCV001348354] Chr2:86254731..86254742 [GRCh38]
Chr2:86481854..86481865 [GRCh37]
Chr2:2p11.2
uncertain significance
GRCh37/hg19 2p11.2(chr2:85786006-86559358)x3 copy number gain not provided [RCV001259609] Chr2:85786006..86559358 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.32+1G>T single nucleotide variant not provided [RCV001267968] Chr2:86337478 [GRCh38]
Chr2:86564601 [GRCh37]
Chr2:2p11.2
likely pathogenic
NM_001371279.1(REEP1):c.501del (p.Ser168fs) deletion not provided [RCV001268459] Chr2:86232719 [GRCh38]
Chr2:86459842 [GRCh37]
Chr2:2p11.2
pathogenic
NM_001371279.1(REEP1):c.499C>T (p.Pro167Ser) single nucleotide variant not provided [RCV001288449] Chr2:86232721 [GRCh38]
Chr2:86459844 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.*82G>A single nucleotide variant not provided [RCV001288448] Chr2:86216957 [GRCh38]
Chr2:86444080 [GRCh37]
Chr2:2p11.2
uncertain significance
NC_000002.11:g.(?_86444152)_(86444243_?)del deletion Spastic paraplegia 31, autosomal dominant [RCV001325536] Chr2:86444152..86444243 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.293C>T (p.Ser98Leu) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001294796] Chr2:86254704 [GRCh38]
Chr2:86481827 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.388G>A (p.Ala130Thr) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001350109] Chr2:86251986 [GRCh38]
Chr2:86479109 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.175del (p.Leu59fs) deletion not provided [RCV001311203] Chr2:86263972 [GRCh38]
Chr2:86491095 [GRCh37]
Chr2:2p11.2
pathogenic
NM_001371279.1(REEP1):c.545A>C (p.His182Pro) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001346428] Chr2:86232675 [GRCh38]
Chr2:86459798 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.583G>A (p.Ala195Thr) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001313970] Chr2:86232637 [GRCh38]
Chr2:86459760 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.16A>C (p.Ile6Leu) single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001296769] Chr2:86337495 [GRCh38]
Chr2:86564618 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.478_479del (p.Arg160fs) deletion Spastic paraplegia 31, autosomal dominant [RCV001340287] Chr2:86232741..86232742 [GRCh38]
Chr2:86459864..86459865 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.105+6T>C single nucleotide variant Spastic paraplegia 31, autosomal dominant [RCV001316223] Chr2:86282164 [GRCh38]
Chr2:86509287 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001371279.1(REEP1):c.478del (p.Arg160fs) deletion not provided [RCV001311202] Chr2:86232742 [GRCh38]
Chr2:86459865 [GRCh37]
Chr2:2p11.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25786 AgrOrtholog
COSMIC REEP1 COSMIC
Ensembl Genes ENSG00000068615 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000165698 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000392197 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000437567 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000438346 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000442681 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000475269 UniProtKB/TrEMBL
  ENSP00000494305 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000494960 UniProtKB/TrEMBL
  ENSP00000495610 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000165698 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000453231 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000489855 UniProtKB/TrEMBL
  ENST00000535845 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000538924 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000541910 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000642243 UniProtKB/TrEMBL
  ENST00000643817 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000644644 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000068615 GTEx
HGNC ID HGNC:25786 ENTREZGENE
Human Proteome Map REEP1 Human Proteome Map
InterPro TB2_DP1_HVA22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:65055 UniProtKB/Swiss-Prot
NCBI Gene 65055 ENTREZGENE
OMIM 609139 OMIM
  610250 OMIM
  614751 OMIM
PANTHER PTHR12300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TB2_DP1_HVA22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134906680 PharmGKB
UniProt A0A1C7CYY3_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5P1_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6K6_HUMAN UniProtKB/TrEMBL
  A0A2R8YD64_HUMAN UniProtKB/TrEMBL
  E7EUF7 ENTREZGENE
  Q9H902 ENTREZGENE, UniProtKB/Swiss-Prot
  U3KPV7_HUMAN UniProtKB/TrEMBL
UniProt Secondary B7Z4D7 UniProtKB/Swiss-Prot
  B7Z4F2 UniProtKB/Swiss-Prot
  B7Z5R9 UniProtKB/Swiss-Prot
  D6W5M2 UniProtKB/Swiss-Prot
  Q53TI0 UniProtKB/Swiss-Prot