POTEJ (POTE ankyrin domain family member J) - Rat Genome Database

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Gene: POTEJ (POTE ankyrin domain family member J) Homo sapiens
Analyze
Symbol: POTEJ
Name: POTE ankyrin domain family member J
RGD ID: 2947058
HGNC Page HGNC:37094
Description: Predicted to enable protein kinase binding activity. Predicted to be a structural constituent of postsynaptic actin cytoskeleton. Predicted to be involved in axonogenesis and cell motility. Located in extracellular exosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: POTE ankyrin domain family, member J; POTE2beta; POTE2beta'
RGD Orthologs
Mouse
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382130,611,078 - 130,658,037 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2130,611,440 - 130,658,037 (+)EnsemblGRCh38hg38GRCh38
GRCh372131,369,013 - 131,415,610 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362131,085,576 - 131,132,080 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map2q21.1NCBI
HuRef2123,138,792 - 123,141,463 (-)NCBIHuRef
HuRef2123,517,130 - 123,517,580 (+)NCBIHuRef
CHM1_12131,372,683 - 131,419,257 (+)NCBICHM1_1
T2T-CHM13v2.02131,044,985 - 131,091,950 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12475935   PMID:15815621   PMID:16364570   PMID:16397215   PMID:16824795   PMID:17101985   PMID:18447647   PMID:19463943   PMID:21873635   PMID:22664934   PMID:23084401   PMID:23533145  
PMID:23580065   PMID:24639526   PMID:25331947   PMID:28514442   PMID:29509190   PMID:29568061   PMID:29845934   PMID:30890647   PMID:31182584   PMID:31343991   PMID:31501420   PMID:31586073  
PMID:31796584   PMID:31871319   PMID:32433965   PMID:32529326   PMID:32552912   PMID:32780723   PMID:33194618   PMID:33961781   PMID:34349018   PMID:34373451   PMID:34709727   PMID:35013218  
PMID:35384245   PMID:35575683   PMID:35831314   PMID:36244648   PMID:38334954   PMID:38580884  


Genomics

Comparative Map Data
POTEJ
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382130,611,078 - 130,658,037 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2130,611,440 - 130,658,037 (+)EnsemblGRCh38hg38GRCh38
GRCh372131,369,013 - 131,415,610 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362131,085,576 - 131,132,080 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map2q21.1NCBI
HuRef2123,138,792 - 123,141,463 (-)NCBIHuRef
HuRef2123,517,130 - 123,517,580 (+)NCBIHuRef
CHM1_12131,372,683 - 131,419,257 (+)NCBICHM1_1
T2T-CHM13v2.02131,044,985 - 131,091,950 (+)NCBIT2T-CHM13v2.0
Potefam1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392110,880,755 - 111,059,948 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2110,880,755 - 111,059,948 (-)EnsemblGRCm39 Ensembl
GRCm382111,050,410 - 111,229,603 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2111,134,114 - 111,152,936 (-)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl2111,088,372 - 111,105,982 (-)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl2111,162,061 - 111,229,602 (-)EnsemblGRCm38mm10GRCm38
MGSCv372111,033,411 - 111,069,757 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362110,994,093 - 111,030,437 (-)NCBIMGSCv36mm8
Celera2112,349,393 - 112,385,775 (-)NCBICelera
Cytogenetic Map2E3NCBI
cM Map256.75NCBI

Variants

.
Variants in POTEJ
2 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1 copy number loss See cases [RCV000054058] Chr2:118086324..134964738 [GRCh38]
Chr2:118843900..135722308 [GRCh37]
Chr2:118560370..135438778 [NCBI36]
Chr2:2q14.1-21.3		 pathogenic
GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1 copy number loss See cases [RCV000136714] Chr2:123445762..140592538 [GRCh38]
Chr2:124203338..141350107 [GRCh37]
Chr2:123919808..141066577 [NCBI36]
Chr2:2q14.3-22.1		 pathogenic
GRCh38/hg38 2q21.1(chr2:130594216-131310557)x3 copy number gain See cases [RCV000137619] Chr2:130594216..131310557 [GRCh38]
Chr2:131351789..132068130 [GRCh37]
Chr2:131068259..131784600 [NCBI36]
Chr2:2q21.1		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q14.3-22.1(chr2:128490257-138210164)x1 copy number loss See cases [RCV000445892] Chr2:128490257..138210164 [GRCh37]
Chr2:2q14.3-22.1		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q21.1-21.2(chr2:130920847-134220436)x3 copy number gain See cases [RCV000511730] Chr2:130920847..134220436 [GRCh37]
Chr2:2q21.1-21.2		 uncertain significance
GRCh37/hg19 2q21.1(chr2:130685932-131478005)x3 copy number gain See cases [RCV000511540] Chr2:130685932..131478005 [GRCh37]
Chr2:2q21.1		 uncertain significance
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3		 likely 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
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3		 drug response
GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1 copy number loss See cases [RCV000512348] Chr2:120571363..141627287 [GRCh37]
Chr2:2q14.2-22.1		 pathogenic
NM_001277083.2(POTEJ):c.2077G>C (p.Val693Leu) single nucleotide variant not provided [RCV004546042] Chr2:130656837 [GRCh38]
Chr2:131414410 [GRCh37]
Chr2:2q21.1		 likely benign
GRCh37/hg19 2q21.1(chr2:130874475-131765997)x1 copy number loss not provided [RCV000682106] Chr2:130874475..131765997 [GRCh37]
Chr2:2q21.1		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q21.1(chr2:131391068-132046784)x3 copy number gain not provided [RCV000850030] Chr2:131391068..132046784 [GRCh37]
Chr2:2q21.1		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787418] Chr2:131198454..131632188 [GRCh37]
Chr2:2q21.1		 uncertain significance
GRCh37/hg19 2q21.1-21.2(chr2:130916858-134213436)x3 copy number gain not provided [RCV000846479] Chr2:130916858..134213436 [GRCh37]
Chr2:2q21.1-21.2		 uncertain significance
GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1 copy number loss See cases [RCV001194541] Chr2:122952356..133826358 [GRCh37]
Chr2:2q14.3-21.2		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1 copy number loss not provided [RCV001832883] Chr2:122699106..143799629 [GRCh37]
Chr2:2q14.3-22.2		 pathogenic
GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3 copy number gain not provided [RCV001832896] Chr2:111484468..146333604 [GRCh37]
Chr2:2q13-22.3		 pathogenic
GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3 copy number gain 2q13q22.3 microduplication syndrome [RCV002226436] Chr2:112475655..145691999 [GRCh37]
Chr2:2q13-22.3		 pathogenic
GRCh37/hg19 2q21.1(chr2:130817326-132099295)x1 copy number loss not provided [RCV003484893] Chr2:130817326..132099295 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_001277083.2(POTEJ):c.2618G>A (p.Arg873His) single nucleotide variant not provided [RCV003429278] Chr2:130657378 [GRCh38]
Chr2:131414951 [GRCh37]
Chr2:2q21.1		 benign
GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1 copy number loss not specified [RCV003986380] Chr2:106755586..134302739 [GRCh37]
Chr2:2q12.2-21.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:76
Count of miRNA genes:67
Interacting mature miRNAs:68
Transcripts:ENST00000409602
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
PMC109445P1  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map5q14.1UniSTS
PMC109653P1  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q25UniSTS
PMC23952P1  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map10q23.3UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q11.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
sensory system
1195 2205 2765 2148 4214 1338 1692 347 1285 187 1935 5797 5644 3313 539 1428 1240 160

Sequence


Ensembl Acc Id: ENST00000409602   ⟹   ENSP00000387176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2130,611,440 - 130,658,037 (+)Ensembl
RefSeq Acc Id: NM_001277083   ⟹   NP_001264012
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382130,611,440 - 130,658,037 (+)NCBI
HuRef2123,138,792 - 123,141,463 (-)NCBI
HuRef2123,517,130 - 123,517,580 (+)NCBI
CHM1_12131,372,683 - 131,419,257 (+)NCBI
T2T-CHM13v2.02131,045,349 - 131,091,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004741   ⟹   XP_016860230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382130,611,078 - 130,658,037 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004742   ⟹   XP_016860231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382130,621,581 - 130,658,037 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004743   ⟹   XP_016860232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382130,624,068 - 130,658,037 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054343492   ⟹   XP_054199467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02131,044,985 - 131,091,950 (+)NCBI
RefSeq Acc Id: XM_054343493   ⟹   XP_054199468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02131,055,493 - 131,091,950 (+)NCBI
RefSeq Acc Id: XM_054343494   ⟹   XP_054199469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02131,057,981 - 131,091,950 (+)NCBI
RefSeq Acc Id: NP_001264012   ⟸   NM_001277083
- UniProtKB: P0CG39 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016860230   ⟸   XM_017004741
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016860231   ⟸   XM_017004742
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016860232   ⟸   XM_017004743
- Peptide Label: isoform X3
- Sequence:
Ensembl Acc Id: ENSP00000387176   ⟸   ENST00000409602
RefSeq Acc Id: XP_054199467   ⟸   XM_054343492
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054199468   ⟸   XM_054343493
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054199469   ⟸   XM_054343494
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P0CG39-F1-model_v2 AlphaFold P0CG39 1-1038 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:37094 AgrOrtholog
COSMIC POTEJ COSMIC
Ensembl Genes ENSG00000222038 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000409602 ENTREZGENE
  ENST00000409602.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot
  3.30.420.40 UniProtKB/Swiss-Prot
GTEx ENSG00000222038 GTEx
HGNC ID HGNC:37094 ENTREZGENE
Human Proteome Map POTEJ Human Proteome Map
InterPro Actin UniProtKB/Swiss-Prot
  Actin/actin-like_CS UniProtKB/Swiss-Prot
  Actin_CS UniProtKB/Swiss-Prot
  Ankyrin_repeat_domain UniProtKB/Swiss-Prot
  Ankyrin_rpt UniProtKB/Swiss-Prot
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot
  ATPase_NBD UniProtKB/Swiss-Prot
  CC144C-like_CC_dom UniProtKB/Swiss-Prot
KEGG Report hsa:653781 UniProtKB/Swiss-Prot
NCBI Gene 653781 ENTREZGENE
PANTHER ANKYRIN REPEAT DOMAIN 36-RELATED UniProtKB/Swiss-Prot
  POTE ANKYRIN DOMAIN FAMILY MEMBER D UniProtKB/Swiss-Prot
Pfam Actin UniProtKB/Swiss-Prot
  Ank_2 UniProtKB/Swiss-Prot
  CCDC144C UniProtKB/Swiss-Prot
PharmGKB PA165697368 PharmGKB
PRINTS ACTIN UniProtKB/Swiss-Prot
PROSITE ACTINS_2 UniProtKB/Swiss-Prot
  ACTINS_ACT_LIKE UniProtKB/Swiss-Prot
  ANK_REP_REGION UniProtKB/Swiss-Prot
  ANK_REPEAT UniProtKB/Swiss-Prot
SMART ACTIN UniProtKB/Swiss-Prot
  ANK UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot
  SSF53067 UniProtKB/Swiss-Prot
UniProt P0CG39 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 POTEJ  POTE ankyrin domain family member J    POTE ankyrin domain family, member J  Symbol and/or name change 5135510 APPROVED