CRLF3 cytokine receptor like factor 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CRLF3provided by HGNC
Official Full Name: cytokine receptor like factor 3provided by HGNC
Primary source: HGNC:HGNC:17177
See related: Ensembl:ENSG00000176390 MIM:614853; AllianceGenome:HGNC:17177
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: FRWS; CRLM9; p48.2; CREME9; CYTOR4; CREME-9
Summary: This gene encodes a cytokine receptor-like factor that may negatively regulate cell cycle progression at the G0/G1 phase. Studies of the related rat protein suggest that it may regulate neuronal morphology and synaptic vesicle biogenesis. This gene is one of several genes located in the neurofibromatosis type I tumor suppressor region on the q arm of chromosome 17, a region that is subject to microdeletions, duplications, chromosomal breaks and rearrangements. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2 and 5. [provided by RefSeq, Aug 2012]
Expression: Broad expression in lymph node (RPKM 15.5), appendix (RPKM 12.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q11.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (30782684..30824692, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (31727662..31770401, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (29109702..29151710, complement)

Chromosome 17 - NC_000017.11 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 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?

A common single nucleotide variant in the cytokine receptor-like factor-3 (CRLF3) gene causes neuronal deficits in human and mouse cells.
Title: A common single nucleotide variant in the cytokine receptor-like factor-3 (CRLF3) gene causes neuronal deficits in human and mouse cells.
Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis.
Title: Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis.
Suggests that the homologous rat protein is involved in neuronal morphology regulation.
Title: Serum-free culture of Japanese quail kidney cells. Regulation of vitamin D metabolism.
p48.2 may represent a novel type of intracellular protein functioning as a negative regulator at the G0/G1 phase.
Title: Cloning and characterization of a novel intracellular protein p48.2 that negatively regulates cell cycle progression.
Meta-analysis of gene-disease association. (HuGE Navigator)
Title: Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".
Observational study of gene-disease association. (HuGE Navigator)
Title: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79956 (e-PCR)
- UniSTS:88073

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-37343 (e-PCR)
- UniSTS:2127

G32767 (e-PCR)
- UniSTS:117348

STS-N67026 (e-PCR)
- UniSTS:22387

CRLF3_557 (e-PCR)
- UniSTS:277128

SHGC-64286 (e-PCR)
- UniSTS:71116

A009Q11 (e-PCR)
- UniSTS:77285

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of G1/S transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of receptor signaling pathway via JAK-STAT	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: cytokine receptor-like factor 3

Names: cytokine receptor-like molecule 9; cytokine receptor-related protein 4; type I cytokine receptor-like factor p48

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_032911.2 RefSeqGene

Range

5069..47077

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_648

mRNA and Protein(s)

NM_015986.4 → NP_057070.3 cytokine receptor-like factor 3

See identical proteins and their annotated locations for NP_057070.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the supported protein.

Source sequence(s)

AA993312, BC023567, BU902521

Consensus CDS

CCDS32607.1

UniProtKB/Swiss-Prot

A6NJF3, B2R8C3, Q2MLY7, Q8IUI8, Q9UNI3, Q9Y6M8

Related

ENSP00000318804.6, ENST00000324238.7

Conserved Domains (1) summary

cd00063
Location:181 → 265

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_073118.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA993312, AK296238, BC023567, BU902521