Information on FERMT3
Basic details
Alt. symbols: URP2 | KIND3 | MIG2B | MGC10966 | MIG-2 | UNC112C
Approved name: FERM domain containing kindlin 3
Alt. names: fermitin family homolog 3 (Drosophila) | kindlin-3
Location: 11q13.1: 64205926 - 64223896 (+)
Gene type: protein_coding, 42 transcripts.
Scores: LoFtool: 0.305000 | pLI: 0.25700509 | LOEUF: 0.562
Normal function
Dysfunction and disease
Leukocyte adhesion deficiency, type III [MIM:612840] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
LAD3 |
Leukocyte adhesion deficiency, type III | AR |
612840 |
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 FERMT3
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 205 | ENST00000541252.2 | protein_coding | No | 714 | NM_001382363,NM_001382364 | ||||
| 202 | ENST00000345728.10 | CCDS8059 | Select | protein_coding | 15 | Yes | 2499 | NM_001382361,NM_031471 | |
| 201 | ENST00000279227.10 | 1 | CCDS8060 | protein_coding | 15 | No | 2489 | NM_178443 | |
| 216 | ENST00000698852.1 | protein_coding | No | NM_001382448 | |||||
| 222 | ENST00000698860.1 | protein_coding | No | NM_001382362 | |||||
| 236 | ENST00000698874.1 | protein_coding | No | XM_047427676 |
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 FERMT3
| ID | Year | Title | Journal | PMID | Variants |
|---|