CRLF2 cytokine receptor like factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CRLF2provided by HGNC
Official Full Name: cytokine receptor like factor 2provided by HGNC
Primary source: HGNC:HGNC:14281
See related: Ensembl:ENSG00000205755 Ensembl:ENSG00000292363 MIM:300357; MIM:400023; AllianceGenome:HGNC:14281
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CRL2; TSLPR; CRLF2Y
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 pathways, which control processes such as cell proliferation and development of the hematopoietic system. Rearrangement of this gene with immunoglobulin heavy chain gene (IGH) on chromosome 14, or with P2Y purinoceptor 8 gene (P2RY8) on the same X or Y chromosomes is associated with B-progenitor acute lymphoblastic leukemia (ALL) and Down syndrome ALL. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: X;Y

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (1190490..1212649, complement)
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	Y	NC_000024.10 (1190490..1212649, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (1035684..1058464, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	Y	NC_060948.1 (1050430..1072677, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (1314869..1331542, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	Y	NC_000024.9 (1264869..1281542, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Chromosome Y - NC_000024.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of amino acids in transmembrane domains of mutated cytokine receptor-like factor 2 and interleukin-7 receptor alpha required for constitutive signal transduction.
Title: Identification of amino acids in transmembrane domains of mutated cytokine receptor-like factor 2 and interleukin-7 receptor α required for constitutive signal transduction.
HMGN1 plays a significant role in CRLF2 driven Down Syndrome leukemia and provides a potential therapeutic target in this high-risk cohort.
Title: HMGN1 plays a significant role in CRLF2 driven Down Syndrome leukemia and provides a potential therapeutic target in this high-risk cohort.
TSLP/TSLPR promotes renal fibrosis by activating STAT3 in renal fibroblasts.
Title: TSLP/TSLPR promotes renal fibrosis by activating STAT3 in renal fibroblasts.
The prognostic significance of CRLF2 expression at diagnosis in adult Ph-negative B-cell precursor acute lymphoblastic leukemia.
Title: The prognostic significance of CRLF2 expression at diagnosis in adult Ph-negative B-cell precursor acute lymphoblastic leukemia.
Prognostic significance of CRLF2 overexpression and JAK2 mutation in Egyptian pediatric patients with B-precursor acute lymphoblastic leukemia.
Title: Prognostic significance of CRLF2 overexpression and JAK2 mutation in Egyptian pediatric patients with B-precursor acute lymphoblastic leukemia.
High occurrence of CRLF2 abnormalities in Mexican children with B-cell acute lymphoblastic leukemia.
Title: High occurrence of CRLF2 abnormalities in Mexican children with B-cell acute lymphoblastic leukemia.
CRLF2 overexpression results in reduced B-cell differentiation and upregulated E2F signaling in the Dp16 mouse model of Down syndrome.
Title: CRLF2 overexpression results in reduced B-cell differentiation and upregulated E2F signaling in the Dp16 mouse model of Down syndrome.
CRLF2 overexpression defines an immature-like subgroup which is rescued through restoration of the PRC2 function in T-cell precursor acute lymphoblastic leukemia.
Title: CRLF2 overexpression defines an immature-like subgroup which is rescued through restoration of the PRC2 function in T-cell precursor acute lymphoblastic leukemia.
Genome-wide CRISPR-Cas9 screen identifies rationally designed combination therapies for CRLF2-rearranged Ph-like ALL.
Title: Genome-wide CRISPR-Cas9 screen identifies rationally designed combination therapies for CRLF2-rearranged Ph-like ALL.
Expression and Polymorphism of TSLP/TSLP Receptors as Potential Diagnostic Markers of Colorectal Cancer Progression.
Title: Expression and Polymorphism of TSLP/TSLP Receptors as Potential Diagnostic Markers of Colorectal Cancer Progression.

Submit: New GeneRIF Correction See all GeneRIFs (80)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced upregulation of cytokine receptor-like factor 2 (CRLF2) in primary human brain microvascular endothelial cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables coreceptor activity	IDA Inferred from Direct Assay more info	PubMed
enables cytokine binding	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables cytokine receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytokine-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-5 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mast cell activation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of receptor signaling pathway via STAT	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cytokine receptor-like factor 2

Names: IL-XR; TSLP receptor; cytokine receptor CRL2 precusor; thymic stromal lymphopoietin protein receptor; thymic stromal-derived lymphopoietin receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_034237.1 RefSeqGene

Range

5075..27234

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001012288.3 → NP_001012288.2 cytokine receptor-like factor 2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon which results in translation initiation at a downstream start codon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC188046, AF142570, AK026800, AY775789

Consensus CDS

CCDS75944.1

UniProtKB/Swiss-Prot

Q9HC73

Related

ENSP00000370979.4, ENSP00000518623.1, ENST00000381567.8, ENST00000711256.1

Conserved Domains (1) summary

cd00063
Location:7 → 76

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_022148.4 → NP_071431.2 cytokine receptor-like factor 2 isoform 1 precursor

See identical proteins and their annotated locations for NP_071431.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC188046, AF142570, AK026800

Consensus CDS

CCDS75945.1

UniProtKB/Swiss-Prot

J3QKD1, Q5G7M1, Q9H5R3, Q9HC73

UniProtKB/TrEMBL

D0E2W4, Q53FI3

Related

ENSP00000383641.3, ENSP00000518625.1, ENST00000400841.8, ENST00000711254.1

Conserved Domains (1) summary

cd00063
Location:119 → 207

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

RNA

NR_110830.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice junction at the 5' end of an exon, lacks an alternate exon, and contains another alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC188046, AF142570, AK026800

Related

ENST00000467626.6, ENST00000711255.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

1190490..1212649 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011546181.3 → XP_011544483.1 cytokine receptor-like factor 2 isoform X1

See identical proteins and their annotated locations for XP_011544483.1

UniProtKB/TrEMBL

Q53FI3

Conserved Domains (1) summary

cd00063
Location:118 → 206

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000024.10 Reference GRCh38.p14 Primary Assembly

Range

1190490..1212649 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011545634.3 → XP_011543936.1 cytokine receptor-like factor 2 isoform X1

See identical proteins and their annotated locations for XP_011543936.1

UniProtKB/TrEMBL

Q53FI3

Conserved Domains (1) summary

cd00063
Location:118 → 206

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...