Information on SMARCD2
Basic details
Alt. symbols: BAF60B | Rsc6p | CRACD2 | PRO2451
Approved name: SWI/SNF related BAF chromatin remodeling complex subunit D2
Alt. names: mammalian chromatin remodeling complex BRG1-associated factor 60B, Swp73-like protein, chromatin remodeling complex BAF60B subunit, SWI/SNF complex 60 kDa subunit B
Location: 17q23.3: 63832081 - 63843065 (-)
Gene type: protein_coding, 28 transcripts.
Scores: LoFtool: | pLI: 0.98073845 | LOEUF: 0.625
Normal function
Dysfunction and disease
Specific granule deficiency 2 [MIM:617475] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
SGD2 |
Specific granule defiency 2 | AR |
617475 |
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 SMARCD2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000323347.14 | CCDS82188 | protein_coding | 13 | No | 1935 | NM_001330440 | ||
| 203 | ENST00000448276.7 | CCDS45756 | Select | protein_coding | 13 | Yes | 2464 | NM_001098426 | |
| 201 | ENST00000225742.13 | CCDS82187 | protein_coding | 13 | No | 1800 | NM_001330439 |
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 SMARCD2
| ID | Year | Title | Journal | PMID | Variants |
|---|