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 |
|---|---|---|---|
| RS2112564806 | Health Risk | Likely pathogenic | — |
| RS2112564811 | Health Risk | Likely pathogenic | — |
| RS2530948932 | Health Risk | Likely pathogenic | — |
| RS2531002141 | Health Risk | Likely pathogenic | — |
| RS2531029612 | Health Risk | Likely pathogenic | — |
| RS2531043713 | Health Risk | Likely pathogenic | Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1 |
| RS2531047728 | Health Risk | Likely pathogenic | Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1 |
| RS2531066176 | Health Risk | Likely pathogenic | — |
| RS2531115922 | Health Risk | Likely pathogenic | — |
| RS2531117312 | Health Risk | Likely pathogenic | — |
| RS2531131693 | Health Risk | Likely pathogenic | — |
| RS2531144916 | Health Risk | Likely pathogenic | — |
| RS746370555 | Health Risk | Likely pathogenic | — |
| RS747837301 | Health Risk | Likely pathogenic | Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1 |
| RS748088219 | Health Risk | Likely pathogenic | Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1 |
| RS772217684 | Health Risk | Likely pathogenic | — |
| RS786205647 | Health Risk | Likely pathogenic | Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1 |
| RS899895056 | Health Risk | Likely pathogenic | — |
| RS1114167358 | Health Risk | Pathogenic | Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract |
| RS121912501 | Health Risk | Pathogenic | Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome |
| RS1299949443 | Health Risk | Pathogenic | — |
| RS1305269957 | Health Risk | Pathogenic | — |
| RS1430793861 | Health Risk | Pathogenic | Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome |
| RS1435281238 | Health Risk | Pathogenic | — |
| RS1436005137 | Health Risk | Pathogenic | — |
| RS1474195407 | Health Risk | Pathogenic | — |
| RS1482559118 | Health Risk | Pathogenic | — |
| RS1561179853 | Health Risk | Pathogenic | Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome |
| RS1580117891 | Health Risk | Pathogenic | Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome |
| RS1744436254 | Health Risk | Pathogenic | — |
| RS1744509983 | Health Risk | Pathogenic | — |
| RS1744878590 | Health Risk | Pathogenic | — |
| RS1745065951 | Health Risk | Pathogenic | — |
| RS1745248753 | Health Risk | Pathogenic | — |
| RS1745315730 | Health Risk | Pathogenic | — |
| RS1745753552 | Health Risk | Pathogenic | Stuve-Wiedemann syndrome, Stüve-Wiedemann syndrome 1, Stuve-Wiedemann syndrome |
| RS1745754747 | Health Risk | Pathogenic | — |
| RS1745823859 | Health Risk | Pathogenic | — |
| RS1746518336 | Health Risk | Pathogenic | — |
| RS1746736672 | Health Risk | Pathogenic | Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1 |
| RS1746954710 | Health Risk | Pathogenic | — |
| RS2112377756 | Health Risk | Pathogenic | — |
| RS2112416721 | Health Risk | Pathogenic | — |
| RS2112416850 | Health Risk | Pathogenic | — |
| RS2112430367 | Health Risk | Pathogenic | — |
| RS2112443938 | Health Risk | Pathogenic | — |
| RS2112443985 | Health Risk | Pathogenic | — |
| RS2112457520 | Health Risk | Pathogenic | — |
| RS2112462051 | Health Risk | Pathogenic | — |
| RS2112470883 | Health Risk | Pathogenic | — |