Information on SLC39A7
Basic details
Alt. symbols: HKE4 | H2-KE4 | D6S2244E | KE4 | RING5 | ZIP7
Approved name: solute carrier family 39 member 7
Alt. names: HLA class II region expressed gene KE4, solute carrier family 39 (zinc transporter), member 7
Location: 6p21.32: 33200305 - 33204439 (+)
Gene type: protein_coding, 17 transcripts.
Scores: LoFtool: 0.828000 | pLI: 0.01499075 | LOEUF: 0.613
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 |
|---|---|---|---|---|---|
AGM9 |
Agammaglobulinemia 9 | AR |
Loss of Function | 619693 |
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 SLC39A7
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000374677.8 | CCDS43453 | Select | protein_coding | 7 | Yes | 2413 | NM_001288777,NM_006979 | |
| 201 | ENST00000374675.7 | CCDS43453 | protein_coding | 8 | No | 2153 | NM_001077516 |
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 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 SLC39A7
| ID | Year | Title | Journal | PMID | Variants |
|---|