LIFR Chromosome 5
LIF receptor subunit alpha
Upload your DNA to see your personal genotypes for variants in LIFR.
What This Gene Does
This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2018]
Gene Info
Gene Group
"CD molecules|Fibronectin type III domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
5p13.1
Ensembl
ENSG00000113594
Associated Conditions (8)
Stuve-Wiedemann syndrome
Connective tissue disorder
Stüve-Wiedemann syndrome 1
LIFR-related disorder
Inborn genetic diseases
Congenital anomaly of kidney and urinary tract
Ovarian serous cystadenocarcinoma
Cervical cancer
Key Variants
RS1195064309
Conflicting classifications of pathogenicity
Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
Health Risk
RS139809889
Conflicting classifications of pathogenicity
Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
Health Risk
RS139848756
Conflicting classifications of pathogenicity
Stuve-Wiedemann syndrome, Connective tissue disorder, Stüve-Wiedemann syndrome 1
Health Risk
RS140538535
Conflicting classifications of pathogenicity
Stuve-Wiedemann syndrome, LIFR-related disorder, Stuve-Wiedemann syndrome
Health Risk
RS141407987
Conflicting classifications of pathogenicity
Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
Health Risk
RS1424683209
Conflicting classifications of pathogenicity
Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
Health Risk
RS144332222
Conflicting classifications of pathogenicity
Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
Health Risk
RS145163157
Conflicting classifications of pathogenicity
Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
Health Risk
RS147058538
Conflicting classifications of pathogenicity
Stuve-Wiedemann syndrome, Inborn genetic diseases, Stüve-Wiedemann syndrome 1
Health Risk
RS148354076
Conflicting classifications of pathogenicity
Stuve-Wiedemann syndrome, Connective tissue disorder, Stüve-Wiedemann syndrome 1
Health Risk
RS151282774
Conflicting classifications of pathogenicity
LIFR-related disorder, LIFR-related disorder
Health Risk
RS1561179800
Conflicting classifications of pathogenicity
Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
Health Risk
All Variants (157)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2530954242 | Health Risk | Pathogenic | Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1 |
| RS2530954352 | Health Risk | Pathogenic | — |
| RS2530967894 | Health Risk | Pathogenic | — |
| RS2530968026 | Health Risk | Pathogenic | — |
| RS2530968047 | Health Risk | Pathogenic | — |
| RS2530987988 | Health Risk | Pathogenic | Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1 |
| RS2530988286 | Health Risk | Pathogenic | — |
| RS2530989090 | Health Risk | Pathogenic | — |
| RS2530989113 | Health Risk | Pathogenic | — |
| RS2531000229 | Health Risk | Pathogenic | — |
| RS2531000911 | Health Risk | Pathogenic | — |
| RS2531001532 | Health Risk | Pathogenic | — |
| RS2531013627 | Health Risk | Pathogenic | — |
| RS2531013834 | Health Risk | Pathogenic | Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1 |
| RS2531028269 | Health Risk | Pathogenic | — |
| RS2531028797 | Health Risk | Pathogenic | — |
| RS2531028879 | Health Risk | Pathogenic | — |
| RS2531035426 | Health Risk | Pathogenic | — |
| RS2531035684 | Health Risk | Pathogenic | — |
| RS2531043843 | Health Risk | Pathogenic | — |
| RS2531044217 | Health Risk | Pathogenic | Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1 |
| RS2531044671 | Health Risk | Pathogenic | — |
| RS2531047714 | Health Risk | Pathogenic | — |
| RS2531071168 | Health Risk | Pathogenic | Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome |
| RS2531071182 | Health Risk | Pathogenic | Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1 |
| RS2531071794 | Health Risk | Pathogenic | — |
| RS2531116066 | Health Risk | Pathogenic | — |
| RS2531116819 | Health Risk | Pathogenic | — |
| RS2531130694 | Health Risk | Pathogenic | — |
| RS2531144958 | Health Risk | Pathogenic | — |
| RS373965624 | Health Risk | Pathogenic | — |
| RS745842249 | Health Risk | Pathogenic | — |
| RS755322616 | Health Risk | Pathogenic | Connective tissue disorder, Connective tissue disorder |
| RS755667590 | Health Risk | Pathogenic | — |
| RS756675225 | Health Risk | Pathogenic | Stuve-Wiedemann syndrome, Stüve-Wiedemann syndrome 1, Stuve-Wiedemann syndrome |
| RS765749224 | Health Risk | Pathogenic | — |
| RS778953608 | Health Risk | Pathogenic | — |
| RS867776788 | Health Risk | Pathogenic | — |
| RS886042160 | Health Risk | Pathogenic | Stuve-Wiedemann syndrome, Stüve-Wiedemann syndrome 1, Stuve-Wiedemann syndrome |
| RS907046324 | Health Risk | Pathogenic | — |
| RS943532734 | Health Risk | Pathogenic | — |
| RS986448088 | Health Risk | Pathogenic | — |
| RS992038336 | Health Risk | Pathogenic | — |
| RS1242667371 | Health Risk | Pathogenic/Likely pathogenic | Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1 |
| RS1554020702 | Health Risk | Pathogenic/Likely pathogenic | Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome |
| RS1561159768 | Health Risk | Pathogenic/Likely pathogenic | Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome |
| RS199775294 | Health Risk | Pathogenic/Likely pathogenic | Stuve-Wiedemann syndrome, Stüve-Wiedemann syndrome 1, Stuve-Wiedemann syndrome |
| RS2112457636 | Health Risk | Pathogenic/Likely pathogenic | Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1 |
| RS2531130676 | Health Risk | Pathogenic/Likely pathogenic | Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1 |
| RS754527323 | Health Risk | Pathogenic/Likely pathogenic | Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1 |