Aph1bl2 (aph-1 homolog B, gamma secretase subunit like 2) - Rat Genome Database

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Gene: Aph1bl2 (aph-1 homolog B, gamma secretase subunit like 2) Rattus norvegicus
Analyze
No known orthologs.
Symbol: Aph1bl2
Name: aph-1 homolog B, gamma secretase subunit like 2
RGD ID: 1597236
Description: Predicted to enable protein-macromolecule adaptor activity. Predicted to be involved in several processes, including Notch receptor processing; Notch signaling pathway; and amyloid-beta formation. Predicted to be located in membrane. Predicted to be part of gamma-secretase complex. Human ortholog(s) of this gene implicated in coronary artery disease. Orthologous to human APH1B (aph-1B gamma-secretase subunit).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: gamma-secretase subunit APH-1B; LOC691658; RGD1559979; similar to anterior pharynx defective 1b homolog
RGD Orthologs
Alliance Orthologs
More Info homologs ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8876,236,827 - 76,259,012 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl876,236,827 - 76,295,913 (-)EnsemblGRCr8
mRatBN7.2867,341,790 - 67,363,967 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl867,341,834 - 67,363,864 (-)EnsemblmRatBN7.2
mRatBN7.2 Ensembl867,378,345 - 67,414,717 (-)EnsemblmRatBN7.2
Dahl_SR_JrHsd877,052,283 - 77,074,356 (-)NCBIDahl_SR_JrHsd
Lyon_Normotensive879,212,998 - 79,235,026 (-)NCBILyon_Normotensive
Lyon_Hypertensive877,676,875 - 77,698,907 (-)NCBILyon_Hypertensive
F344_StmMcwi869,093,716 - 69,115,791 (-)NCBIF344_StmMcwi
Rnor_6.0872,472,787 - 72,494,547 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0872,139,008 - 72,160,849 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4871,088,414 - 71,106,232 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera866,726,965 - 66,741,649 (-)NCBICelera
Cytogenetic Map8q24NCBI
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:16778019  


Genomics

Variants

.
Variants in Aph1bl2
177 total Variants

QTLs in Region (GRCr8)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298065Scl16Serum cholesterol level QTL 163.8blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)83975280384752803Rat
1554321Bmd3Bone mineral density QTL 37.90.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)849849908118871671Rat
1578769Uae31Urinary albumin excretion QTL 313.30.001urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)839106363103375781Rat
1298079Activ2Activity QTL 29.50.000001voluntary movement trait (VT:0003491)rearing measurement (CMO:0001515)85076395195763951Rat
11556286Cm81Cardiac mass QTL 810.01heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)83910625884106258Rat
70161Bp62Blood pressure QTL 622.90.001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)85158969999045312Rat
1578765Klgr1Kidney lesion grade QTL 13.30.0001kidney morphology trait (VT:0002135)organ lesion measurement (CMO:0000677)839106363103375781Rat
61464Niddm11Non-insulin dependent diabetes mellitus QTL 113.10.001blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)84447792689477926Rat
4889938Bss89Bone structure and strength QTL 893.8tibia size trait (VT:0100001)tibia cortical bone volume (CMO:0001725)85899169791341052Rat
1578755Pur5Proteinuria QTL 53.30.0001urine total protein amount (VT:0000032)urine total protein excretion rate (CMO:0000756)839106258103375958Rat
2313088Bss75Bone structure and strength QTL 753.10.0001body length (VT:0001256)body length, nose to rump (CMO:0000079)83910625891341052Rat
631210Bw3Body weight QTL35.9mesenteric fat pad mass (VT:0010427)mesenteric fat pad weight to body weight ratio (CMO:0000654)861019838121662124Rat
8662823Vetf5Vascular elastic tissue fragility QTL 51.9artery integrity trait (VT:0010639)patent ductus arteriosus score (CMO:0002566)863404444108404444Rat
1358896Bp262Blood pressure QTL 2622.89arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)835464071107982864Rat
731182Uae24Urinary albumin excretion QTL 246.4urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)84754141992541419Rat
61353Bp35Blood pressure QTL 350.001arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)83910625884106258Rat
631842Inf1Infertility severity QTL 14.10.001seminal gland mass (VT:0010524)seminal vesicle wet weight (CMO:0001603)83154366176543661Rat
1359033Bp273Blood pressure QTL 273arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)83910625884106258Rat
1331769Rf39Renal function QTL 393.871urine output (VT:0003620)timed urine volume (CMO:0000260)850763951107970527Rat
61358Bp39Blood pressure QTL 392arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)84444783789447837Rat
1358906Bp253Blood pressure QTL 25340.0004arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)84961020494610204Rat
1358907Cm40Cardiac mass QTL 401.89heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)835464071107982864Rat
70197BpQTLcluster8Blood pressure QTL cluster 83.482arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)855428333127966348Rat
2316950Scl66Serum cholesterol level QTL 664.1blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)839106363114525825Rat
1582254Kidm31Kidney mass QTL 313kidney mass (VT:0002707)both kidneys wet weight (CMO:0000085)84924517894245178Rat
724540Uae8Urinary albumin excretion QTL 85urine albumin amount (VT:0002871)urine albumin level (CMO:0000130)839106258103375958Rat
10402857Bp380Blood pressure QTL 3800.95arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)862848139107848139Rat
1358892Kidm26Kidney mass QTL 263.69kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)835464071107982864Rat
1582243Bw66Body weight QTL 663.40.0048body mass (VT:0001259)body weight (CMO:0000012)84924517894245178Rat
5684973Bss100Bone structure and strength QTL 1004.7tibia area (VT:1000281)tibia area measurement (CMO:0001382)85899169791341052Rat
61373Mcs4Mammary carcinoma susceptibility QTL 41.1mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)84447504389475043Rat
2313057Bss76Bone structure and strength QTL 7630.0001tibia size trait (VT:0100001)tibia midshaft cross-sectional area (CMO:0001717)83910625891341052Rat
12879878Bw183Body weight QTL 1830.001body mass (VT:0001259)body weight (CMO:0000012)862848139107848139Rat
1300177Cm2Cardiac mass QTL 23.65heart mass (VT:0007028)heart weight (CMO:0000017)863141536109261840Rat
1549908Neudeg1Neurodegradation QTL 15.50nervous system integrity trait (VT:0010566)logarithm of the ratio of the lesioned side motor neuron count to contralateral side motor neuron count (CMO:0001986)858337123103337123Rat
12879879Cm99Cardiac mass QTL 990.001heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)862848139107848139Rat
2313067Bss77Bone structure and strength QTL 773.10.0001tibia size trait (VT:0100001)tibia midshaft endosteal cross-sectional area (CMO:0001716)83910625891341052Rat
1331804Cm30Cardiac mass QTL 303.77443heart mass (VT:0007028)heart wet weight (CMO:0000069)862970527107970527Rat
12879880Cm100Cardiac mass QTL 1000.001heart left ventricle mass (VT:0007031)heart left ventricle weight to body weight ratio (CMO:0000530)862848139107848139Rat
12879881Cm101Cardiac mass QTL 1010.001heart right ventricle mass (VT:0007033)heart right ventricle weight to body weight ratio (CMO:0000914)862848139107848139Rat
12879882Am8Aortic mass QTL 80.001aorta mass (VT:0002845)aorta weight to aorta length to body weight ratio (CMO:0002722)862848139107848139Rat
12879883Kidm65Kidney mass QTL 650.001kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)862848139107848139Rat
71120Niddm21Non-insulin dependent diabetes mellitus QTL 213.73blood glucose amount (VT:0000188)plasma glucose level (CMO:0000042)866992095111992095Rat
1358912Bw51Body weight QTL 512.95body mass (VT:0001259)body weight (CMO:0000012)860248093105248093Rat
2313086Bss60Bone structure and strength QTL 604.10.0001tibia length (VT:0004357)tibia length (CMO:0000450)85899169791341052Rat
2293697Bmd39Bone mineral density QTL 39femur strength trait (VT:0010010)femur total energy absorbed before break (CMO:0001677)862848139107848139Rat
1331837Bw23Body weight QTL 234.190.00007body mass (VT:0001259)body weight (CMO:0000012)855428416107963099Rat
1331838Niddm61Non-insulin dependent diabetes mellitus QTL 613.530.0004blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)862963099107963099Rat
631650Stl6Serum triglyceride level QTL 640.0019blood triglyceride amount (VT:0002644)plasma triglyceride level (CMO:0000548)870041301121080908Rat
1581557Eae16Experimental allergic encephalomyelitis QTL 163.8nervous system integrity trait (VT:0010566)experimental autoimmune encephalomyelitis incidence/prevalence measurement (CMO:0001046)868690349119799881Rat
2313046Bss78Bone structure and strength QTL 783.50.0001tibia strength trait (VT:1000284)tibia total energy absorbed before break (CMO:0001736)83910625891341052Rat
2301402Bp316Blood pressure QTL 3160.005arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)862848139107848139Rat
631664Hcar3Hepatocarcinoma resistance QTL 32.90.0005liver integrity trait (VT:0010547)volume of individual liver tumorous lesion (CMO:0001078)862982864107982864Rat


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
exocrine system
hemolymphoid system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
sensory system
visual system
10 7 1 101 136 6 114 16 267 234 11 135 36 32 17 17

Sequence


Ensembl Acc Id: ENSRNOT00000109916   ⟹   ENSRNOP00000085301
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl876,236,827 - 76,295,913 (-)Ensembl
mRatBN7.2 Ensembl867,341,834 - 67,363,864 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000117753   ⟹   ENSRNOP00000096772
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl876,236,827 - 76,295,913 (-)Ensembl
mRatBN7.2 Ensembl867,343,951 - 67,363,814 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000122342   ⟹   ENSRNOP00000105475
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl876,236,827 - 76,295,849 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000138006   ⟹   ENSRNOP00000106135
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl876,236,827 - 76,258,754 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000139854   ⟹   ENSRNOP00000111882
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl876,236,827 - 76,295,849 (-)Ensembl
RefSeq Acc Id: NM_001409174   ⟹   NP_001396103
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8876,236,827 - 76,258,900 (-)NCBI
mRatBN7.2867,341,790 - 67,363,869 (-)NCBI
Dahl_SR_JrHsd877,052,283 - 77,074,356 (-)NCBI
Lyon_Normotensive879,212,998 - 79,235,026 (-)NCBI
Lyon_Hypertensive877,676,875 - 77,698,907 (-)NCBI
F344_StmMcwi869,093,716 - 69,115,791 (-)NCBI
RefSeq Acc Id: XM_063266193   ⟹   XP_063122263
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8876,240,622 - 76,258,467 (-)NCBI
RefSeq Acc Id: XM_063266194   ⟹   XP_063122264
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8876,240,622 - 76,258,625 (-)NCBI
RefSeq Acc Id: XM_063266195   ⟹   XP_063122265
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8876,240,622 - 76,259,012 (-)NCBI
RefSeq Acc Id: XM_063266196   ⟹   XP_063122266
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8876,246,808 - 76,258,679 (-)NCBI
RefSeq Acc Id: XM_063266198   ⟹   XP_063122268
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8876,246,808 - 76,259,012 (-)NCBI
RefSeq Acc Id: XR_010054031
Type: NON-CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8876,246,808 - 76,258,680 (-)NCBI
RefSeq Acc Id: XR_010054032
Type: NON-CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8876,243,958 - 76,258,675 (-)NCBI
RefSeq Acc Id: XR_010054033
Type: NON-CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8876,246,808 - 76,258,676 (-)NCBI
Ensembl Acc Id: ENSRNOP00000096772   ⟸   ENSRNOT00000117753
Ensembl Acc Id: ENSRNOP00000085301   ⟸   ENSRNOT00000109916
RefSeq Acc Id: NP_001396103   ⟸   NM_001409174
- UniProtKB: A0A8J8XJD4 (UniProtKB/TrEMBL),   Q4G070 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_063122265   ⟸   XM_063266195
- Peptide Label: isoform X3
- UniProtKB: A0A8I6A315 (UniProtKB/TrEMBL),   Q4G070 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_063122264   ⟸   XM_063266194
- Peptide Label: isoform X2
RefSeq Acc Id: XP_063122263   ⟸   XM_063266193
- Peptide Label: isoform X1
- UniProtKB: Q4G070 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_063122268   ⟸   XM_063266198
- Peptide Label: isoform X5
RefSeq Acc Id: XP_063122266   ⟸   XM_063266196
- Peptide Label: isoform X4
Ensembl Acc Id: ENSRNOP00000106135   ⟸   ENSRNOT00000138006
Ensembl Acc Id: ENSRNOP00000111882   ⟸   ENSRNOT00000139854
Ensembl Acc Id: ENSRNOP00000105475   ⟸   ENSRNOT00000122342

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1597236 AgrOrtholog
BioCyc Gene G2FUF-30011 BioCyc
Ensembl Genes ENSRNOG00000063302 Ensembl, UniProtKB/TrEMBL
  ENSRNOG00000067077 Ensembl
Ensembl Transcript ENSRNOT00000109916.3 UniProtKB/TrEMBL
  ENSRNOT00000117753.3 UniProtKB/TrEMBL
  ENSRNOT00000122342.1 UniProtKB/TrEMBL
  ENSRNOT00000138006.1 UniProtKB/TrEMBL
  ENSRNOT00000139854.1 UniProtKB/TrEMBL
InterPro Aph-1 UniProtKB/TrEMBL
NCBI Gene 691658 ENTREZGENE
PANTHER PTHR12889 UniProtKB/TrEMBL
Pfam Aph-1 UniProtKB/TrEMBL
PhenoGen Aph1bl2 PhenoGen
RatGTEx ENSRNOG00000063302 RatGTEx
  ENSRNOG00000067077 RatGTEx
UniProt A0A8I6A315 ENTREZGENE, UniProtKB/TrEMBL
  A0A8J8XJD4 ENTREZGENE, UniProtKB/TrEMBL
  A0ABK0L7J3_RAT UniProtKB/TrEMBL
  A0ABK0LZC5_RAT UniProtKB/TrEMBL
  Q4G070 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-12-27 Aph1bl2  aph-1 homolog B, gamma secretase subunit like 2  LOC691658  similar to anterior pharynx defective 1b homolog  Name and Symbol changed 629549 APPROVED
2012-07-02 LOC691658  similar to anterior pharynx defective 1b homolog  RGD1559979  similar to APH1B homolog (C.elegans)  Data merged from RGD:1559979 1643240 APPROVED
2008-04-30 RGD1559979  similar to APH1B homolog (C.elegans)   RGD1559979_predicted  similar to APH1B homolog (C.elegans) (predicted)  'predicted' is removed 2292626 APPROVED
2006-11-20 LOC691658  similar to anterior pharynx defective 1b homolog      Symbol and Name status set to provisional 70820 PROVISIONAL
2006-03-07 RGD1559979_predicted  similar to APH1B homolog (C.elegans) (predicted)  LOC503216  similar to APH1B homolog (C.elegans)  Symbol and Name status set to approved 1299863 APPROVED
2006-02-09 LOC503216  similar to APH1B homolog (C.elegans)      Symbol and Name status set to provisional 70820 PROVISIONAL