Information on TCIRG1
Alt. symbols: TIRC7 | OC-116 | OC116 | ATP6N1C | Atp6i | a3 | ATP6V0A3
Approved name: T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
Alt. names: T-cell, immune regulator 1, T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3, T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3, T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | T-cell immune response cDNA 7
Location: 11q13.2: 68039025 - 68050895 (+)
Gene type: protein_coding, 22 transcripts.
Scores: LoFtool: 0.049000 | pLI: 0.00000604 | LOEUF: 0.866
Gene Ontology (GO)
- Molecular function: ATPase binding [GO:0051117]
- Cell component: vacuolar proton-transporting V-type ATPase complex [GO:0016471]; plasma membrane [GO:0005886]
- Biological process: vacuolar acidification [GO:0007035]
Normal function
Dysfunction and disease
Osteopetrosis, autosomal recessive 1 [MIM:259700] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
OPTB1 |
Osteopetrosis, autosomal recessive 1 | AR |
259700 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of TCIRG1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000524598.5 | protein_coding | No | 940 | XM_047426243 | ||||
| 213 | ENST00000532635.5 | CCDS53670 | protein_coding | 15 | No | 2457 | NM_001351059,NM_006053 | ||
| 201 | ENST00000265686.8 | 1 | CCDS8177 | Select | protein_coding | 20 | Yes | 2668 | NM_006019 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) 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 TCIRG1
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|