Information on DOCK2
Basic details
Alt. symbols: KIAA0209
Approved name: dedicator of cytokinesis 2
Alt. names: dedicator of cyto-kinesis 2
Location: 5q35.1: 169637268 - 170083382 (+)
Gene type: protein_coding, 18 transcripts.
Scores: LoFtool: 0.335000 | pLI: 0.99999989 | LOEUF: 0.261
Normal function
The protein encoded by this gene belongs to the CDM protein family. It is specifically expressed in hematopoietic cells and is predominantly expressed in peripheral blood leukocytes. The protein is involved in remodeling of the actin cytoskeleton required for lymphocyte migration in response to chemokine signaling. It activates members of the Rho family of GTPases, for example RAC1 and RAC2, by acting as a guanine nucleotide exchange factor (GEF) to exchange bound GDP for free GTP.
Dysfunction and disease
Immunodeficiency 40 [MIM:616433] [Load More]
[Reviewed by Andrés Caballero-Oteyza on ]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD40 |
Immunodeficiency 40 | AR |
616433 |
1 (1 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not been completed yet. It is currently ongoing.
Transcripts of DOCK2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 210 | ENST00000520908.7 | 1 | CCDS4371 | Select | protein_coding | 52 | Yes | 6069 | NM_004946 |
| 204 | ENST00000519628.2 | protein_coding | No | 631 | XM_005265830 |
Published variants
Found 1 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|---|---|---|---|---|---|---|
| T1243M |
EX37 | 3780 | c.3728C>T | p.Thr1243Met | missense_variant | Uncertain significance | 1 |
Please mind that full curation (inclusion of all published variants) of this gene has not been completed yet. It is currently ongoing.
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 DOCK2
| ID | Year | Title | Journal | PMID | Variants |
|---|---|---|---|---|---|
| 537 |
2022 | Copy Number Analysis in a Large Cohort Suggestive of Inborn ... | JoCI | 35486341 |
2 |