ARL2BP (ADP ribosylation factor like GTPase 2 binding protein) - Rat Genome Database

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Gene: ARL2BP (ADP ribosylation factor like GTPase 2 binding protein) Homo sapiens
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Symbol: ARL2BP
Name: ADP ribosylation factor like GTPase 2 binding protein
RGD ID: 1344137
HGNC Page HGNC:17146
Description: Enables transcription coactivator activity. Involved in maintenance of protein location in nucleus and positive regulation of tyrosine phosphorylation of STAT protein. Located in several cellular components, including centrosome; midbody; and mitochondrial intermembrane space. Implicated in retinitis pigmentosa with or without situs inversus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADP-ribosylation factor-like protein 2-binding protein; Arf-like 2 binding protein BART1; ARF-like 2-binding protein; ARL2-binding protein; BART; BART1; binder of ARF2 protein 1; binder of Arl Two; binder of Arl2; retinitis pigmentosa 66 (autosomal recessive); RP66
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: ARL2BPP1   ARL2BPP10   ARL2BPP2   ARL2BPP3   ARL2BPP4   ARL2BPP5   ARL2BPP6   ARL2BPP7   ARL2BPP8   ARL2BPP9  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381657,245,259 - 57,253,635 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1657,245,259 - 57,253,635 (+)EnsemblGRCh38hg38GRCh38
GRCh371657,279,171 - 57,287,547 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361655,836,539 - 55,845,046 (+)NCBINCBI36Build 36hg18NCBI36
Build 341655,836,538 - 55,845,046NCBI
Celera1641,778,726 - 41,787,233 (+)NCBICelera
Cytogenetic Map16q13NCBI
HuRef1643,148,688 - 43,157,185 (+)NCBIHuRef
CHM1_11658,687,284 - 58,695,791 (+)NCBICHM1_1
T2T-CHM13v2.01663,041,248 - 63,049,621 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10488091   PMID:11303027   PMID:11809823   PMID:11847227   PMID:12477932   PMID:16525022   PMID:18234692   PMID:18981177   PMID:19322201   PMID:19368893   PMID:20301590   PMID:20936779  
PMID:21665939   PMID:21833473   PMID:21873635   PMID:21901094   PMID:21988832   PMID:22532868   PMID:22658674   PMID:22745590   PMID:23685147   PMID:23849777   PMID:24899173   PMID:25416956  
PMID:25502805   PMID:26135619   PMID:26186194   PMID:26455799   PMID:27107012   PMID:27173435   PMID:27790702   PMID:28514442   PMID:29997244   PMID:30210231   PMID:31425546   PMID:31515488  
PMID:32296183   PMID:32814053   PMID:33438581   PMID:33961781   PMID:34681596   PMID:34917906   PMID:35271311  


Genomics

Comparative Map Data
ARL2BP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381657,245,259 - 57,253,635 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1657,245,259 - 57,253,635 (+)EnsemblGRCh38hg38GRCh38
GRCh371657,279,171 - 57,287,547 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361655,836,539 - 55,845,046 (+)NCBINCBI36Build 36hg18NCBI36
Build 341655,836,538 - 55,845,046NCBI
Celera1641,778,726 - 41,787,233 (+)NCBICelera
Cytogenetic Map16q13NCBI
HuRef1643,148,688 - 43,157,185 (+)NCBIHuRef
CHM1_11658,687,284 - 58,695,791 (+)NCBICHM1_1
T2T-CHM13v2.01663,041,248 - 63,049,621 (+)NCBIT2T-CHM13v2.0
Arl2bp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39895,393,228 - 95,401,085 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl895,393,228 - 95,401,053 (+)EnsemblGRCm39 Ensembl
GRCm38894,666,600 - 94,674,457 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl894,666,600 - 94,674,425 (+)EnsemblGRCm38mm10GRCm38
MGSCv37897,190,655 - 97,198,322 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36897,555,884 - 97,563,551 (+)NCBIMGSCv36mm8
Celera898,995,245 - 99,002,895 (+)NCBICelera
Cytogenetic Map8C5NCBI
cM Map846.65NCBI
Arl2bp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81910,342,895 - 10,352,529 (-)NCBIGRCr8
mRatBN7.21910,336,921 - 10,346,555 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1910,336,921 - 10,346,564 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1910,300,195 - 10,309,713 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01911,067,044 - 11,076,562 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01910,353,992 - 10,363,509 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01910,753,670 - 10,763,247 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1910,753,681 - 10,763,110 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01910,747,782 - 10,757,507 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41910,777,163 - 10,786,698 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1910,226,305 - 10,235,761 (-)NCBICelera
Cytogenetic Map19p13NCBI
Arl2bp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495543314,887,094 - 14,894,119 (+)NCBIChiLan1.0ChiLan1.0
ARL2BP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21866,714,280 - 66,722,836 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11672,635,053 - 72,643,602 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01637,520,140 - 37,528,634 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11656,653,883 - 56,661,404 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1656,653,742 - 56,661,404 (+)Ensemblpanpan1.1panPan2
ARL2BP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1259,127,139 - 59,133,993 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl259,128,323 - 59,133,902 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha255,754,660 - 55,762,075 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0259,664,788 - 59,672,205 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl259,665,634 - 59,672,310 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1256,496,410 - 56,503,621 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0257,503,458 - 57,510,873 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0258,397,522 - 58,404,950 (-)NCBIUU_Cfam_GSD_1.0
Arl2bp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934950,236,986 - 50,245,702 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364759,343,336 - 9,352,065 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364759,343,333 - 9,352,089 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARL2BP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl619,207,071 - 19,223,194 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1619,207,013 - 19,215,014 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2617,197,974 - 17,205,969 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ARL2BP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1543,192,283 - 43,200,113 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl543,192,287 - 43,201,681 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604733,118,182 - 33,127,306 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Arl2bp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474628,798,870 - 28,805,988 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ARL2BP
84 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012106.4(ARL2BP):c.101-1G>C single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257802]|Retinitis pigmentosa [RCV001002870]|Retinitis pigmentosa with or without situs inversus [RCV000055664] Chr16:57248536 [GRCh38]
Chr16:57282448 [GRCh37]
Chr16:16q13		 pathogenic
NM_012106.4(ARL2BP):c.134T>G (p.Met45Arg) single nucleotide variant Retinitis pigmentosa with or without situs inversus [RCV000055665]|not provided [RCV001235488] Chr16:57248570 [GRCh38]
Chr16:57282482 [GRCh37]
Chr16:16q13		 pathogenic|uncertain significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2		 pathogenic
GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1 copy number loss See cases [RCV000133738] Chr16:55457477..63841622 [GRCh38]
Chr16:55491389..63875526 [GRCh37]
Chr16:54048890..62433027 [NCBI36]
Chr16:16q12.2-21		 pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Breast ductal adenocarcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2		 likely pathogenic|uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_012106.4(ARL2BP):c.207+1G>A single nucleotide variant ARL2BP-related condition [RCV003392337]|Retinal dystrophy [RCV000504888]|not provided [RCV001857201] Chr16:57248644 [GRCh38]
Chr16:57282556 [GRCh37]
Chr16:16q13		 pathogenic|likely pathogenic
NM_012106.4(ARL2BP):c.259G>A (p.Glu87Lys) single nucleotide variant not provided [RCV001511408]|not specified [RCV000454554] Chr16:57249818 [GRCh38]
Chr16:57283730 [GRCh37]
Chr16:16q13		 benign|likely benign
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3 copy number gain See cases [RCV000511791] Chr16:34197492..64509054 [GRCh37]
Chr16:16p11.2-q21		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
NM_012106.4(ARL2BP):c.207+1G>T single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257803]|Retinitis pigmentosa with or without situs inversus [RCV000677195] Chr16:57248644 [GRCh38]
Chr16:57282556 [GRCh37]
Chr16:16q13		 pathogenic
GRCh37/hg19 16q13-21(chr16:56950941-60203590)x1 copy number loss not provided [RCV000683823] Chr16:56950941..60203590 [GRCh37]
Chr16:16q13-21		 pathogenic|likely pathogenic
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2		 pathogenic
NM_012106.4(ARL2BP):c.38+2T>G single nucleotide variant Retinitis pigmentosa [RCV001002869] Chr16:57245407 [GRCh38]
Chr16:57279319 [GRCh37]
Chr16:16q13		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_012106.4(ARL2BP):c.207C>T (p.Tyr69=) single nucleotide variant not provided [RCV000908109] Chr16:57248643 [GRCh38]
Chr16:57282555 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.39-1G>C single nucleotide variant not provided [RCV001055258] Chr16:57246079 [GRCh38]
Chr16:57279991 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_012106.4(ARL2BP):c.449A>G (p.Lys150Arg) single nucleotide variant not provided [RCV002001539] Chr16:57252224 [GRCh38]
Chr16:57286136 [GRCh37]
Chr16:16q13		 uncertain significance
GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3 copy number gain not provided [RCV000848548] Chr16:53455650..64006604 [GRCh37]
Chr16:16q12.2-21		 uncertain significance
NM_012106.4(ARL2BP):c.324A>G (p.Ile108Met) single nucleotide variant not provided [RCV001234478] Chr16:57250441 [GRCh38]
Chr16:57284353 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.485G>A (p.Arg162Gln) single nucleotide variant not provided [RCV000974539] Chr16:57252260 [GRCh38]
Chr16:57286172 [GRCh37]
Chr16:16q13		 benign
NM_012106.4(ARL2BP):c.391-10T>A single nucleotide variant not provided [RCV000903156] Chr16:57252156 [GRCh38]
Chr16:57286068 [GRCh37]
Chr16:16q13		 benign
Single allele duplication not provided [RCV001542388] Chr16:46385317..61223349 [GRCh38]
Chr16:16q11.2-21		 pathogenic
NM_012106.4(ARL2BP):c.206A>G (p.Tyr69Cys) single nucleotide variant not provided [RCV001067441] Chr16:57248642 [GRCh38]
Chr16:57282554 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.251G>A (p.Arg84Gln) single nucleotide variant not provided [RCV001048860] Chr16:57249810 [GRCh38]
Chr16:57283722 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.269T>A (p.Met90Lys) single nucleotide variant not provided [RCV001303221] Chr16:57249828 [GRCh38]
Chr16:57283740 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.391-3T>C single nucleotide variant not provided [RCV001368674] Chr16:57252163 [GRCh38]
Chr16:57286075 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.100+4A>C single nucleotide variant not provided [RCV001363307] Chr16:57246145 [GRCh38]
Chr16:57280057 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.190C>A (p.Pro64Thr) single nucleotide variant not provided [RCV001343794] Chr16:57248626 [GRCh38]
Chr16:57282538 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.101-7G>A single nucleotide variant not provided [RCV001373993] Chr16:57248530 [GRCh38]
Chr16:57282442 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.299A>G (p.His100Arg) single nucleotide variant not provided [RCV001369026] Chr16:57250416 [GRCh38]
Chr16:57284328 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.182T>C (p.Ile61Thr) single nucleotide variant not provided [RCV001313250] Chr16:57248618 [GRCh38]
Chr16:57282530 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.46G>T (p.Ala16Ser) single nucleotide variant Inborn genetic diseases [RCV002547564]|not provided [RCV001352594] Chr16:57246087 [GRCh38]
Chr16:57279999 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.72G>A (p.Val24=) single nucleotide variant not provided [RCV001297764] Chr16:57246113 [GRCh38]
Chr16:57280025 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_012106.4(ARL2BP):c.327C>T (p.Phe109=) single nucleotide variant not provided [RCV001399108] Chr16:57250444 [GRCh38]
Chr16:57284356 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.138C>T (p.Asp46=) single nucleotide variant Retinal dystrophy [RCV003888093]|not provided [RCV001397757] Chr16:57248574 [GRCh38]
Chr16:57282486 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.294-8G>A single nucleotide variant ARL2BP-related condition [RCV003908659]|not provided [RCV001445082] Chr16:57250403 [GRCh38]
Chr16:57284315 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.483G>T (p.Leu161=) single nucleotide variant not provided [RCV001425622] Chr16:57252258 [GRCh38]
Chr16:57286170 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.105C>T (p.Asp35=) single nucleotide variant not provided [RCV001415990] Chr16:57248541 [GRCh38]
Chr16:57282453 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.293+5G>A single nucleotide variant Retinitis pigmentosa with or without situs inversus [RCV001726538]|not provided [RCV001871962] Chr16:57249857 [GRCh38]
Chr16:57283769 [GRCh37]
Chr16:16q13		 likely pathogenic|uncertain significance
NM_012106.4(ARL2BP):c.261G>C (p.Glu87Asp) single nucleotide variant not provided [RCV001914322] Chr16:57249820 [GRCh38]
Chr16:57283732 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.208-3C>T single nucleotide variant not provided [RCV002024327] Chr16:57249764 [GRCh38]
Chr16:57283676 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.7G>A (p.Ala3Thr) single nucleotide variant not provided [RCV001983574] Chr16:57245374 [GRCh38]
Chr16:57279286 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.250C>T (p.Arg84Trp) single nucleotide variant Inborn genetic diseases [RCV002553448]|not provided [RCV001890335] Chr16:57249809 [GRCh38]
Chr16:57283721 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.328G>A (p.Asp110Asn) single nucleotide variant Inborn genetic diseases [RCV003289143]|not provided [RCV001947171] Chr16:57250445 [GRCh38]
Chr16:57284357 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.106G>A (p.Glu36Lys) single nucleotide variant Inborn genetic diseases [RCV002642114]|not provided [RCV002042592] Chr16:57248542 [GRCh38]
Chr16:57282454 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.94A>G (p.Ile32Val) single nucleotide variant not provided [RCV001905754] Chr16:57246135 [GRCh38]
Chr16:57280047 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.394A>G (p.Lys132Glu) single nucleotide variant not provided [RCV002035775] Chr16:57252169 [GRCh38]
Chr16:57286081 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.484C>T (p.Arg162Trp) single nucleotide variant not provided [RCV002036838] Chr16:57252259 [GRCh38]
Chr16:57286171 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.458C>T (p.Ser153Phe) single nucleotide variant Inborn genetic diseases [RCV002549036]|not provided [RCV002038747] Chr16:57252233 [GRCh38]
Chr16:57286145 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.477C>G (p.Asn159Lys) single nucleotide variant not provided [RCV002037489] Chr16:57252252 [GRCh38]
Chr16:57286164 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.99G>A (p.Met33Ile) single nucleotide variant not provided [RCV002033357] Chr16:57246140 [GRCh38]
Chr16:57280052 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.14A>G (p.Glu5Gly) single nucleotide variant not provided [RCV001955934] Chr16:57245381 [GRCh38]
Chr16:57279293 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.294-17_342del deletion not provided [RCV002032175] Chr16:57250392..57250457 [GRCh38]
Chr16:57284304..57284369 [GRCh37]
Chr16:16q13		 likely pathogenic
NM_012106.4(ARL2BP):c.355C>G (p.Leu119Val) single nucleotide variant not provided [RCV001882340] Chr16:57250472 [GRCh38]
Chr16:57284384 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.139_143dup (p.Tyr48Ter) duplication not provided [RCV001875189] Chr16:57248574..57248575 [GRCh38]
Chr16:57282486..57282487 [GRCh37]
Chr16:16q13		 pathogenic
NM_012106.4(ARL2BP):c.97A>G (p.Met33Val) single nucleotide variant Inborn genetic diseases [RCV003167339]|not provided [RCV001952610] Chr16:57246138 [GRCh38]
Chr16:57280050 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.455C>T (p.Ser152Phe) single nucleotide variant not provided [RCV002047840] Chr16:57252230 [GRCh38]
Chr16:57286142 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.22A>G (p.Ser8Gly) single nucleotide variant not provided [RCV001916612] Chr16:57245389 [GRCh38]
Chr16:57279301 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.6C>G (p.Asp2Glu) single nucleotide variant not provided [RCV001906968] Chr16:57245373 [GRCh38]
Chr16:57279285 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.6C>A (p.Asp2Glu) single nucleotide variant not provided [RCV002019175] Chr16:57245373 [GRCh38]
Chr16:57279285 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.137A>G (p.Asp46Gly) single nucleotide variant not provided [RCV002032234] Chr16:57248573 [GRCh38]
Chr16:57282485 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.57A>G (p.Ala19=) single nucleotide variant not provided [RCV002190144] Chr16:57246098 [GRCh38]
Chr16:57280010 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.312G>T (p.Val104=) single nucleotide variant Retinal dystrophy [RCV003889074]|not provided [RCV002126009] Chr16:57250429 [GRCh38]
Chr16:57284341 [GRCh37]
Chr16:16q13		 benign|likely benign
NM_012106.4(ARL2BP):c.38+12C>T single nucleotide variant not provided [RCV002190265] Chr16:57245417 [GRCh38]
Chr16:57279329 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.405A>C (p.Arg135=) single nucleotide variant not provided [RCV002206516] Chr16:57252180 [GRCh38]
Chr16:57286092 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.101-17del deletion not provided [RCV002149630] Chr16:57248517 [GRCh38]
Chr16:57282429 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.294-15C>T single nucleotide variant not provided [RCV002134001] Chr16:57250396 [GRCh38]
Chr16:57284308 [GRCh37]
Chr16:16q13		 likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NM_012106.4(ARL2BP):c.480T>C (p.Asn160=) single nucleotide variant not provided [RCV002175340] Chr16:57252255 [GRCh38]
Chr16:57286167 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.246G>A (p.Leu82=) single nucleotide variant not provided [RCV002198650] Chr16:57249805 [GRCh38]
Chr16:57283717 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.294-9dup duplication not provided [RCV002156571] Chr16:57250400..57250401 [GRCh38]
Chr16:57284312..57284313 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.294-9C>T single nucleotide variant not provided [RCV002182219] Chr16:57250402 [GRCh38]
Chr16:57284314 [GRCh37]
Chr16:16q13		 likely benign
NC_000016.9:g.(?_56226148)_(58768132_?)del deletion Bardet-Biedl syndrome [RCV003119976]|Early infantile epileptic encephalopathy with suppression bursts [RCV003109791] Chr16:56226148..58768132 [GRCh37]
Chr16:16q12.2-21		 pathogenic
NC_000016.9:g.(?_57016057)_(58768132_?)del deletion not provided [RCV003122679] Chr16:57016057..58768132 [GRCh37]
Chr16:16q13-21		 pathogenic
Single allele deletion not provided [RCV002266766] Chr16:53818483..57631312 [GRCh38]
Chr16:16q12.2-21		 pathogenic
GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3 copy number gain not provided [RCV002472562] Chr16:46503573..62203182 [GRCh37]
Chr16:16q11.2-21		 pathogenic
NM_012106.4(ARL2BP):c.80A>G (p.Tyr27Cys) single nucleotide variant not provided [RCV002295640] Chr16:57246121 [GRCh38]
Chr16:57280033 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.207+15A>G single nucleotide variant not provided [RCV002614350] Chr16:57248658 [GRCh38]
Chr16:57282570 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.166G>A (p.Glu56Lys) single nucleotide variant not provided [RCV002816562] Chr16:57248602 [GRCh38]
Chr16:57282514 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.207+15A>C single nucleotide variant not provided [RCV003017078] Chr16:57248658 [GRCh38]
Chr16:57282570 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.191del (p.Pro64fs) deletion not provided [RCV002614704] Chr16:57248626 [GRCh38]
Chr16:57282538 [GRCh37]
Chr16:16q13		 pathogenic
NM_012106.4(ARL2BP):c.85G>A (p.Glu29Lys) single nucleotide variant not provided [RCV002842629] Chr16:57246126 [GRCh38]
Chr16:57280038 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.376T>C (p.Leu126=) single nucleotide variant not provided [RCV002695997] Chr16:57250493 [GRCh38]
Chr16:57284405 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.442T>C (p.Leu148=) single nucleotide variant not provided [RCV003054418] Chr16:57252217 [GRCh38]
Chr16:57286129 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.293+11C>T single nucleotide variant not provided [RCV002627238] Chr16:57249863 [GRCh38]
Chr16:57283775 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.379G>T (p.Asp127Tyr) single nucleotide variant Inborn genetic diseases [RCV002850104] Chr16:57250496 [GRCh38]
Chr16:57284408 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.97_98dup (p.Met33fs) duplication not provided [RCV003024621] Chr16:57246137..57246138 [GRCh38]
Chr16:57280049..57280050 [GRCh37]
Chr16:16q13		 pathogenic
NM_012106.4(ARL2BP):c.391-17G>A single nucleotide variant not provided [RCV002573749] Chr16:57252149 [GRCh38]
Chr16:57286061 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.38+3G>C single nucleotide variant not provided [RCV002914586] Chr16:57245408 [GRCh38]
Chr16:57279320 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.45C>T (p.Ser15=) single nucleotide variant not provided [RCV002716504] Chr16:57246086 [GRCh38]
Chr16:57279998 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.481C>A (p.Leu161Met) single nucleotide variant not provided [RCV002715307] Chr16:57252256 [GRCh38]
Chr16:57286168 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.121C>A (p.Gln41Lys) single nucleotide variant not provided [RCV003046390] Chr16:57248557 [GRCh38]
Chr16:57282469 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.27T>A (p.Phe9Leu) single nucleotide variant Inborn genetic diseases [RCV002809697] Chr16:57245394 [GRCh38]
Chr16:57279306 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.207+5G>A single nucleotide variant not provided [RCV002671729] Chr16:57248648 [GRCh38]
Chr16:57282560 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.294-9del deletion not provided [RCV003047863] Chr16:57250401 [GRCh38]
Chr16:57284313 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.39-14G>T single nucleotide variant not provided [RCV002600881] Chr16:57246066 [GRCh38]
Chr16:57279978 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.120A>T (p.Leu40Phe) single nucleotide variant not provided [RCV003070287] Chr16:57248556 [GRCh38]
Chr16:57282468 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.331A>G (p.Met111Val) single nucleotide variant not provided [RCV002653644] Chr16:57250448 [GRCh38]
Chr16:57284360 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.406G>A (p.Gly136Arg) single nucleotide variant not provided [RCV002586327] Chr16:57252181 [GRCh38]
Chr16:57286093 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.33_36del (p.Phe13fs) deletion Retinitis pigmentosa [RCV003324685] Chr16:57245398..57245401 [GRCh38]
Chr16:57279310..57279313 [GRCh37]
Chr16:16q13		 pathogenic
NM_012106.4(ARL2BP):c.340A>C (p.Thr114Pro) single nucleotide variant Inborn genetic diseases [RCV003361807] Chr16:57250457 [GRCh38]
Chr16:57284369 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.261G>A (p.Glu87=) single nucleotide variant Retinal dystrophy [RCV003889322]|not provided [RCV003693902] Chr16:57249820 [GRCh38]
Chr16:57283732 [GRCh37]
Chr16:16q13		 likely benign|uncertain significance
NM_012106.4(ARL2BP):c.207+19C>T single nucleotide variant not provided [RCV003660276] Chr16:57248662 [GRCh38]
Chr16:57282574 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.207C>A (p.Tyr69Ter) single nucleotide variant not provided [RCV003580778] Chr16:57248643 [GRCh38]
Chr16:57282555 [GRCh37]
Chr16:16q13		 pathogenic
NM_012106.4(ARL2BP):c.38+20C>T single nucleotide variant not provided [RCV003721263] Chr16:57245425 [GRCh38]
Chr16:57279337 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.235G>T (p.Glu79Ter) single nucleotide variant not provided [RCV003682902] Chr16:57249794 [GRCh38]
Chr16:57283706 [GRCh37]
Chr16:16q13		 pathogenic
GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1 copy number loss not specified [RCV003987196] Chr16:55329260..67180113 [GRCh37]
Chr16:16q12.2-22.1		 pathogenic
NM_012106.4(ARL2BP):c.294-17A>G single nucleotide variant not provided [RCV003857062] Chr16:57250394 [GRCh38]
Chr16:57284306 [GRCh37]
Chr16:16q13		 likely benign
NM_012106.4(ARL2BP):c.32T>C (p.Leu11Pro) single nucleotide variant Retinal dystrophy [RCV003889736] Chr16:57245399 [GRCh38]
Chr16:57279311 [GRCh37]
Chr16:16q13		 uncertain significance
NM_012106.4(ARL2BP):c.37_38del (p.Phe13fs) deletion Retinal dystrophy [RCV003889737] Chr16:57245403..57245404 [GRCh38]
Chr16:57279315..57279316 [GRCh37]
Chr16:16q13		 pathogenic
NM_012106.4(ARL2BP):c.74T>A (p.Val25Asp) single nucleotide variant Retinal dystrophy [RCV003889739] Chr16:57246115 [GRCh38]
Chr16:57280027 [GRCh37]
Chr16:16q13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1066
Count of miRNA genes:529
Interacting mature miRNAs:565
Transcripts:ENST00000219204, ENST00000562023, ENST00000563234, ENST00000565794
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
G06868  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371657,287,133 - 57,287,466UniSTSGRCh37
Build 361655,844,634 - 55,844,967RGDNCBI36
Celera1641,786,821 - 41,787,154RGD
Cytogenetic Map16q13UniSTS
HuRef1643,156,773 - 43,157,106UniSTS
SHGC-33383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,533,448 - 80,533,598UniSTSGRCh37
GRCh371657,286,689 - 57,286,838UniSTSGRCh37
Build 361655,844,190 - 55,844,339RGDNCBI36
Celera1641,786,377 - 41,786,526RGD
Celera1777,124,195 - 77,124,345UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q13UniSTS
HuRef1775,930,782 - 75,930,932UniSTS
HuRef1643,156,329 - 43,156,478UniSTS
TNG Radiation Hybrid Map1623552.0UniSTS
STS-W69175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371657,286,576 - 57,286,823UniSTSGRCh37
Build 361655,844,077 - 55,844,324RGDNCBI36
Celera1641,786,264 - 41,786,511RGD
Cytogenetic Map16q13UniSTS
HuRef1643,156,216 - 43,156,463UniSTS
GeneMap99-GB4 RH Map16362.87UniSTS


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 1031 892 474 226 428 202 1995 448 1148 304 1051 795 38 1 706 1137 3
Low 1408 2038 1203 351 1489 216 2362 1730 2574 104 402 818 136 498 1651 3 2
Below cutoff 56 42 41 29 41 18 11 10 6

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000219204   ⟹   ENSP00000219204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,245,259 - 57,253,635 (+)Ensembl
RefSeq Acc Id: ENST00000562023   ⟹   ENSP00000457465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,245,350 - 57,252,424 (+)Ensembl
RefSeq Acc Id: ENST00000563234   ⟹   ENSP00000454237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,245,376 - 57,253,275 (+)Ensembl
RefSeq Acc Id: ENST00000565794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,245,259 - 57,246,141 (+)Ensembl
RefSeq Acc Id: NM_012106   ⟹   NP_036238
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,245,259 - 57,253,635 (+)NCBI
GRCh371657,279,037 - 57,287,547 (+)NCBI
Build 361655,836,539 - 55,845,046 (+)NCBI Archive
Celera1641,778,726 - 41,787,233 (+)RGD
HuRef1643,148,688 - 43,157,185 (+)RGD
CHM1_11658,687,284 - 58,695,791 (+)NCBI
T2T-CHM13v2.01663,041,248 - 63,049,621 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047433883   ⟹   XP_047289839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,245,793 - 57,253,635 (+)NCBI
RefSeq Acc Id: XM_054379979   ⟹   XP_054235954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01663,041,782 - 63,049,621 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_036238   ⟸   NM_012106
- UniProtKB: B3KQJ5 (UniProtKB/Swiss-Prot),   Q504R0 (UniProtKB/Swiss-Prot),   Q9Y2Y0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000219204   ⟸   ENST00000219204
RefSeq Acc Id: ENSP00000457465   ⟸   ENST00000562023
RefSeq Acc Id: ENSP00000454237   ⟸   ENST00000563234
RefSeq Acc Id: XP_047289839   ⟸   XM_047433883
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054235954   ⟸   XM_054379979
- Peptide Label: isoform X1
Protein Domains
BART

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y2Y0-F1-model_v2 AlphaFold Q9Y2Y0 1-163 view protein structure

Promoters
RGD ID:6792805
Promoter ID:HG_KWN:23890
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000257334,   UC010CCY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361655,836,171 - 55,836,671 (+)MPROMDB
RGD ID:7232315
Promoter ID:EPDNEW_H21903
Type:initiation region
Name:ARL2BP_1
Description:ADP ribosylation factor like GTPase 2 binding protein
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
GRCh381657,245,259 - 57,245,319EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17146 AgrOrtholog
COSMIC ARL2BP COSMIC
Ensembl Genes ENSG00000102931 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000219204 ENTREZGENE
  ENST00000219204.8 UniProtKB/Swiss-Prot
  ENST00000562023.5 UniProtKB/TrEMBL
  ENST00000563234.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1520.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102931 GTEx
HGNC ID HGNC:17146 ENTREZGENE
Human Proteome Map ARL2BP Human Proteome Map
InterPro ARL2BP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BART_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BART_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23568 UniProtKB/Swiss-Prot
NCBI Gene 23568 ENTREZGENE
OMIM 615407 OMIM
PANTHER ADP-RIBOSYLATION FACTOR-LIKE PROTEIN 2-BINDING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15487 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ARL2_Bind_BART UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134904608 PharmGKB
UniProt AR2BP_HUMAN UniProtKB/Swiss-Prot
  B3KQJ5 ENTREZGENE
  H3BM52_HUMAN UniProtKB/TrEMBL
  H3BU49_HUMAN UniProtKB/TrEMBL
  Q504R0 ENTREZGENE
  Q9Y2Y0 ENTREZGENE
UniProt Secondary B3KQJ5 UniProtKB/Swiss-Prot
  Q504R0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 ARL2BP  ADP ribosylation factor like GTPase 2 binding protein  ARL2BP  ADP-ribosylation factor like GTPase 2 binding protein  Symbol and/or name change 5135510 APPROVED
2015-11-17 ARL2BP  ADP-ribosylation factor like GTPase 2 binding protein  ARL2BP  ADP-ribosylation factor-like 2 binding protein  Symbol and/or name change 5135510 APPROVED