Information on CISH
Basic details
Alt. symbols: CIS | G18 | CIS-1 | SOCS
Approved name: cytokine inducible SH2 containing protein
Alt. names: cytokine inducible SH2-containing protein
Location: 3p21.2: 50606489 - 50611774 (-)
Gene type: protein_coding, 3 transcripts.
Scores: LoFtool: 0.353000 | pLI: 0.00144426 | LOEUF: 1.343
Normal function
Dysfunction and disease
{Bacteremia, susceptibility to} [MIM:614383] | {Malaria, susceptibility to} [MIM:611162] | {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 |
|---|---|---|---|---|---|
TBS4 |
Mycobacterium tuberculosis, susceptibility to, 4 | 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 CISH
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000443053.6 | CCDS46834 | protein_coding | 4 | No | 2167 | NM_013324 | ||
| 201 | ENST00000348721.4 | CCDS2831 | Select | protein_coding | 3 | Yes | 2019 | NM_145071 |
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 CISH
| ID | Year | Title | Journal | PMID | Variants |
|---|