Information on CRACR2A
Basic details
Alt. symbols: EFCAB4B | MGC4266
Approved name: calcium release activated channel regulator 2A
Alt. names: EF-hand calcium binding domain 4B | Ca2+ release-activated Ca2+ (CRAC) channel regulator 2A, CRAC regulator 2A
Location: 12p13.32: 3606633 - 3764819 (-)
Gene type: protein_coding, 6 transcripts.
Scores: LoFtool: 0.853000 | pLI: 0.00382179 | LOEUF: 0.866
Normal function
Dysfunction and disease
[Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
CRACR2AD |
CRACR2A deficiency | AR |
- | 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 CRACR2A
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 203 | ENST00000440314.7 | CCDS44803 | Select | protein_coding | 20 | Yes | 2704 | NM_001144958 | |
| 201 | ENST00000252322.1 | CCDS8522 | protein_coding | 11 | No | 2186 | NM_032680 |
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 CRACR2A
| ID | Year | Title | Journal | PMID | Variants |
|---|