Information on TAP2
Basic details
Alt. symbols: ABCB3 | PSF2 | RING11 | D6S217E
Approved name: transporter 2, ATP binding cassette subfamily B member
Alt. names: transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
Location: 6p21.32: 32821833 - 32838739 (-)
Gene type: protein_coding, 9 transcripts.
Scores: LoFtool: 0.060600 | pLI: 0.00171342 | LOEUF: 0.787
Normal function
Dysfunction and disease
Bare lymphocyte syndrome, type I, due to TAP2 deficiency [MIM:604571]. Biallelic mutations in TAP2 cause Bare lymphocyte syndrome, type I, due to TAP2 deficiency (OMIM 604571). Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency) with onset in childhood. Most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). Many people with BLS I also have open sores (ulcers) on their skin, usually o n the face, arms, and legs. These ulcers typically develop in adolescence or young adulthood. Some people with BLS I have no symptoms of the condition. [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
BLS1B |
Bare lymphocyte syndrome type 1B | AR |
620813 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of TAP2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000374897.4 | 1 | CCDS78129 | Select | protein_coding | 12 | Yes | 5643 | NM_001290043 |
| 205 | ENST00000652259.1 | 2 | CCDS4755 | protein_coding | 12 | No | 2509 | NM_018833 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in TAP2
| ID | Year | Title | Journal | PMID | Variants |
|---|