Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
9244 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Cytokine receptor like factor 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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CRLF1 |
SynonymsGene synonyms aliases
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CISS, CISS1, CLF, CLF-1, NR6, zcytor5 |
ChromosomeChromosome number
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19 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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19p13.11 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the cytokine type I receptor family. The protein forms a secreted complex with cardiotrophin-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuro |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs104894668 |
A>C |
Pathogenic |
Coding sequence variant, missense variant |
rs104894670 |
C>T |
Benign, pathogenic |
Coding sequence variant, missense variant |
rs137853143 |
A>C,G |
Pathogenic |
Coding sequence variant, missense variant |
rs137853144 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
rs137853145 |
G>A,C,T |
Pathogenic |
Synonymous variant, coding sequence variant, missense variant, stop gained |
rs137853926 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs137853927 |
C>A |
Pathogenic |
Coding sequence variant, missense variant |
rs137853928 |
AC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs137853929 |
CCGCCGCGCGGATTGGGCGGCGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs137853930 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs137853931 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs137853932 |
C>T |
Pathogenic |
Splice donor variant |
rs137853933 |
C>A,G,T |
Pathogenic |
Coding sequence variant, missense variant |
rs146027258 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs367543004 |
GTCCACCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs748847434 |
C>G,T |
Pathogenic |
Intron variant |
rs761746361 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
rs768727082 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886041972 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1555758035 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1600650861 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1600651228 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
|
Transcription factor |
Regulation |
Reference |
PLAG1 |
Activation |
14712223 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
O75462 |
Protein name |
Cytokine receptor-like factor 1 (Cytokine-like factor 1) (CLF-1) (ZcytoR5) |
Protein function |
In complex with CLCF1, forms a heterodimeric neurotropic cytokine that plays a crucial role during neuronal development (Probable). May also play a regulatory role in the immune system. |
PDB |
8D7H
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF09067 |
EpoR_lig-bind |
131 → 228 |
Erythropoietin receptor, ligand binding |
Domain |
PF00041 |
fn3 |
236 → 317 |
Fibronectin type III domain |
Domain |
|
Sequence |
|
Sequence length |
422 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Cold-induced sweating syndrome |
COLD-INDUCED SWEATING SYNDROME 1, COLD-INDUCED SWEATING SYNDROME 2, Cold-induced sweating syndrome |
rs104894198, rs104894203, rs761746361, rs137853143, rs137853144, rs2145329741, rs137853145, rs367543004, rs137853929, rs137853932, rs137853934, rs137853935, rs768727082, rs137853928, rs879255557, rs879255558, rs780705654, rs879255556, rs1555758035, rs1600650861 |
12509788, 17436251, 17436252, 21326283, 23026229, 24488861, 16952376 |
Crisponi syndrome |
Crisponi syndrome |
rs1600651228 |
12509788, 17436251, 17436252 |
Keratitis |
Keratitis |
rs587776571 |
|
Scoliosis |
Scoliosis, unspecified |
rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Achalasia |
Esophageal Achalasia |
|
27976805 |
Acquired kyphoscoliosis |
Acquired Kyphoscoliosis |
|
|
Congenital camptodactyly |
Congenital Camptodactyly |
|
|
Congenital clubfoot |
Congenital clubfoot |
|
|
Congenital kyphoscoliosis |
Congenital kyphoscoliosis |
|
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Elbow flexion contracture |
Flexion contracture - elbow |
|
|
Facial paralysis |
Facial paralysis |
|
|
High palate |
Byzanthine arch palate |
|
|
Hypohidrosis |
Hypohidrosis |
|
|
Idiopathic achalasia |
Idiopathic achalasia of esophagus |
|
27976805 |
Impaired cognition |
Impaired cognition |
|
|
Micrognathism |
Micrognathism |
|
|
Microstomia |
Microstomia |
|
|
Oral ulcer |
Oral Ulcer |
|
30837455 |
Trismus |
Trismus |
|
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