Human Gene LRBA (ENST00000651943.2_13) from GENCODE V47lift37
Description: LPS responsive beige-like anchor protein, transcript variant 3 (from RefSeq NM_001364905.1)
Gencode Transcript: ENST00000651943.2_13
Gencode Gene: ENSG00000198589.15_22
Transcript (Including UTRs)
Position: hg19 chr4:151,185,587-151,936,436 Size: 750,850 Total Exon Count: 57 Strand: -
Coding Region
Position: hg19 chr4:151,186,874-151,935,794 Size: 748,921 Coding Exon Count: 56
Data last updated at UCSC: 2024-08-22 23:36:26
Sequence and Links to Tools and Databases
Primer design for this transcript
MalaCards Disease Associations
MalaCards Gene Search: LRBA
Diseases sorted by gene-association score: immunodeficiency, common variable, 8, with autoimmunity * (1580), lrba-related common variable immune deficiency * (400), lrba-related common variable immune deficiency with autoimmunity * (100), immunodeficiency 8 (13), t cell deficiency (10), common variable immunodeficiency (8), refractory celiac disease (8), autoimmune hemolytic anemia (8), autoimmune lymphoproliferative syndrome (6), tracheitis (6), thrombocytopenic purpura, autoimmune (6), hemoglobin h disease, nondeletional (4), thalassemias, alpha- (4)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
Press "+" in the title bar above to open this section.
Microarray Expression Data
Press "+" in the title bar above to open this section.
mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Descriptions from all associated GenBank mRNAs
AF467287 - Homo sapiens beige-like protein (LRBA) mRNA, complete cds.AK026483 - Homo sapiens cDNA: FLJ22830 fis, clone KAIA4122, highly similar to HUMCDC4REL Human beige-like protein (BGL) mRNA.CR749633 - Homo sapiens mRNA; cDNA DKFZp686K03100 (from clone DKFZp686K03100).M83822 - Human beige-like protein (BGL) mRNA, partial cds.AF216648 - Homo sapiens LPS responsive and Beige-like anchor protein LRBA mRNA, complete cds.AK122920 - Homo sapiens cDNA FLJ16600 fis, clone TESTI4006704, highly similar to Lipopolysaccharide-responsive and beige-like anchor protein.AB208838 - Homo sapiens mRNA for Beige-like protein variant protein.CR627301 - Homo sapiens mRNA; cDNA DKFZp686A09128 (from clone DKFZp686A09128).AF217149 - Homo sapiens beige-like protein (LBA) mRNA, partial cds.BC172217 - Synthetic construct Homo sapiens clone IMAGE:9094322 LPS-responsive vesicle trafficking, beach and anchor containing (LRBA) gene, partial cds.BC008644 - Homo sapiens mRNA similar to Lab300 protein (cDNA clone IMAGE:3855198).BX537552 - Homo sapiens mRNA; cDNA DKFZp686P2258 (from clone DKFZp686P2258).BC012535 - Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing, mRNA (cDNA clone IMAGE:4101911), partial cds.JD314467 - Sequence 295491 from Patent EP1572962.JD091152 - Sequence 72176 from Patent EP1572962.JD196194 - Sequence 177218 from Patent EP1572962.JD241195 - Sequence 222219 from Patent EP1572962.JD053455 - Sequence 34479 from Patent EP1572962.JD263033 - Sequence 244057 from Patent EP1572962.JD296596 - Sequence 277620 from Patent EP1572962.JD296840 - Sequence 277864 from Patent EP1572962.JD510764 - Sequence 491788 from Patent EP1572962.JD372041 - Sequence 353065 from Patent EP1572962.BT007180 - Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing mRNA, complete cds.LF206156 - JP 2014500723-A/13659: Polycomb-Associated Non-Coding RNAs.LF352005 - JP 2014500723-A/159508: Polycomb-Associated Non-Coding RNAs.MA587582 - JP 2018138019-A/159508: Polycomb-Associated Non-Coding RNAs.MA441733 - JP 2018138019-A/13659: Polycomb-Associated Non-Coding RNAs.BC172218 - Synthetic construct Homo sapiens clone IMAGE:9094321 LPS-responsive vesicle trafficking, beach and anchor containing (LRBA) gene, partial cds.AK098552 - Homo sapiens cDNA FLJ25686 fis, clone TST04261, highly similar to Mus musculus LAB300 (Lab300) mRNA.AK098039 - Homo sapiens cDNA FLJ40720 fis, clone THYMU2028394, moderately similar to Homo sapiens transport protein LBA mRNA.BC064834 - Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing, mRNA (cDNA clone IMAGE:4609486), complete cds.JD477884 - Sequence 458908 from Patent EP1572962.JD289965 - Sequence 270989 from Patent EP1572962.JD244749 - Sequence 225773 from Patent EP1572962.
Other Names for This Gene
Alternate Gene Symbols: A0A494C1L5, A0A494C1L5_HUMAN, ENST00000651943.1, LRBA , NM_001364905, uc328tqk.1, uc328tqk.2UCSC ID: ENST00000651943.2_13RefSeq Accession: NM_001364905.1
Gene Model Information
Click here
for a detailed description of the fields of the table above.
Methods, Credits, and Use Restrictions
Click here
for details on how this gene model was made and data restrictions if any.