Gene Gene information from NCBI Gene database.
Entrez ID 64109
Gene name Cytokine receptor like factor 2
Gene symbol CRLF2
Synonyms (NCBI Gene)
CRL2CRLF2YTSLPR
Chromosome X|Y
Chromosome location X;Y
Summary This gene encodes a member of the type I cytokine receptor family. The encoded protein is a receptor for thymic stromal lymphopoietin (TSLP). Together with the interleukin 7 receptor (IL7R), the encoded protein and TSLP activate STAT3, STAT5, and JAK2 pat
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1057519743 A>C Pathogenic Missense variant, coding sequence variant, non coding transcript variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0004896 Function Cytokine receptor activity IBA
GO:0004896 Function Cytokine receptor activity IDA 11418668
GO:0004896 Function Cytokine receptor activity IMP 17242164
GO:0005576 Component Extracellular region IEA
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300357 N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HC73
Protein name Cytokine receptor-like factor 2 (Cytokine receptor-like 2) (IL-XR) (Thymic stromal lymphopoietin protein receptor) (TSLP receptor)
Protein function Receptor for thymic stromal lymphopoietin (TSLP). Forms a functional complex with TSLP and IL7R which is capable of stimulating cell proliferation through activation of STAT3 and STAT5. Also activates JAK2 (By similarity). Implicated in the deve
PDB 5J11 , 5J12
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, skeletal muscle, kidney and adult and fetal liver. Primarily expressed in dendrites and monocytes. Weakly expressed in T-cells.
Sequence
MGRLVLLWGAAVFLLGGWMALGQGGAAEGVQIQIIYFNLETVQVTWNASKYSRTNLTFHY
RFNGDEAYDQCTNYLLQEGHTSGCLLDAEQRDDILYFSIRNGTHPVFTASRWMVYYLKPS
SPKHVRFSWHQDAVTVTCSDLSYGDLLYEVQYRSPFDTEWQSKQENTCNVTIEGLDAEKC
YSFWVRVKAMEDVYGPDTYPSDWSEVTCWQRGEIRDACAETPTPPKPKLSKFILISSLAI
LLMVSLLLLSLWKLWRVKKFLIPSVPDPKSIFPGLFEIHQGNFQEWITDTQNVAHLHKMA
GAEQESGPEEPLVVQLAKTEAESPRMLDPQTEEKEASGGSLQLPHQPLQGGDVVTIGGFT
FVMNDRSYVAL
Sequence length 371
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
JAK-STAT signaling pathway
  Interleukin-7 signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abetalipoproteinemia Abetalipoproteinemia BEFREE 20018760
★☆☆☆☆
Found in Text Mining only
Acute lymphoblastic leukemia with lymphomatous features Lymphoblastic Leukemia With Lymphomatous Features CLINVAR_DG 19907440, 19965641, 20018760, 22368272
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 19641190, 19838194, 19965641, 20139093, 20807819, 21106984, 22297722, 22368272, 22441210, 22484421, 22685175, 22816614, 22851563, 23340138, 23804397
View all (19 more)
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 19838194, 19965641, 22297722, 22368272, 22685175, 22851563, 23340138, 25920591, 26631987, 27391346, 29552179, 31350265
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 24958565, 29413340
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 26110994
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 20236697, 20663412, 30588853
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 20483734, 20663412, 24573880, 32302698 Associate
★☆☆☆☆
Found in Text Mining only
Blood Platelet Disorders Platelet disorder Pubtator 24356513 Stimulate
★☆☆☆☆
Found in Text Mining only
Burkitt Leukemia Burkitt`s Lymphoma BEFREE 28033648, 30487598
★☆☆☆☆
Found in Text Mining only