Information on CD209
Basic details
Alt. symbols: DC-SIGN | CDSIGN | DC-SIGN1 | CLEC4L
Approved name: CD209 molecule
Alt. names: CD209 antigen
Location: 19p13.2: 7739993 - 7747564 (-)
Gene type: protein_coding, 11 transcripts.
Scores: LoFtool: 0.979000 | pLI: 0.00000003 | LOEUF: 1.375
Normal function
Dysfunction and disease
{Dengue fever, protection against} [MIM:614371] | {HIV type 1, susceptibility to} [MIM:609423] | {Mycobacterium tuberculosis, susceptibility to} [MIM:607948] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
TBS6 |
Mycobacterium tuberculosis, susceptibility to, 6 | AD/AR |
607948 |
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 CD209
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 206 | ENST00000394173.8 | CCDS59345 | protein_coding | 7 | No | 1313 | NM_001144899 | ||
| 204 | ENST00000354397.10 | CCDS45951 | protein_coding | 7 | No | 1197 | NM_001144897 | ||
| 211 | ENST00000602261.5 | CCDS45952 | protein_coding | 7 | No | 939 | NM_001144895 | ||
| 203 | ENST00000315599.12 | CCDS12186 | Select | protein_coding | 7 | Yes | 4284 | NM_021155 | |
| 201 | ENST00000204801.12 | CCDS45949 | protein_coding | 5 | No | 1083 | NM_001144894 | ||
| 202 | ENST00000315591.12 | CCDS45950 | protein_coding | 6 | No | 1143 | NM_001144896 | ||
| 208 | ENST00000593821.5 | CCDS59344 | protein_coding | 5 | No | 807 | NM_001144893 |
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 CD209
| ID | Year | Title | Journal | PMID | Variants |
|---|