Information on PTPRC
Basic details
Alt. symbols: CD45 | LCA | T200 | GP180
Approved name: protein tyrosine phosphatase receptor type C
Alt. names: receptortype tyrosineprotein phosphatase C | CD45 antigen | T200 glycoprotein | T200 leukocyte common antigen | protein tyrosine phosphatase, receptor type, c polypeptide
Location: 1q31.3: 198638457 - 198759342 (+)
Gene type: protein_coding, 23 transcripts.
Scores: LoFtool: | pLI: 0.99994116 | LOEUF: 0.207
Normal function
Dysfunction and disease
{Hepatitis C virus, susceptibility to} [MIM:609532] | Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive [MIM:608971]. Biallelic mutations of PTPRC have been reported to cause autosomal recessive (AR) severe combined immunodefeciency (SCID). [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
SCID3 |
Severe combined immunodeficiency due to PTPRC deficiency | AR |
Loss of Function | 619924 |
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 PTPRC
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 206 | ENST00000413409.6 | CCDS44291 | protein_coding | 4 | No | 1338 | NM_001267798 | ||
| 209 | ENST00000442510.8 | 1 | CCDS1397 | Select | protein_coding | 33 | Yes | 5357 | NM_002838 |
| 201 | ENST00000348564.12 | CCDS1398 | protein_coding | 30 | No | 4753 | NM_080921 | ||
| 220 | ENST00000697632.1 | protein_coding | No | XM_047426417 |
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 | - | |
| 2012 | Uniparental disomy | 22689986 | Authors reported a SCID patient who carried a homozygous nonsense mutation (K540X), which was inherited through maternal uniparental disomy of chromosome 1. |
| - | Cryptic splicing | - | 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 PTPRC
| ID | Year | Title | Journal | PMID | Variants |
|---|