CD2BP2 CD2 cytoplasmic tail binding protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CD2BP2provided by HGNC
Official Full Name: CD2 cytoplasmic tail binding protein 2provided by HGNC
Primary source: HGNC:HGNC:1656
See related: Ensembl:ENSG00000169217 MIM:604470; AllianceGenome:HGNC:1656
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: LIN1; Snu40; FWP010; U5-52K; PPP1R59
Summary: This gene encodes a bi-functional protein. In the cytoplasm, the encoded protein binds the cytoplasmic tail of human surface antigen CD2 via its C-terminal GYF domain, and regulate CD2-triggered T lymphocyte activation. In the nucleus, this protein is a component of the U5 small nuclear ribonucleoprotein complex and is involved in RNA splicing. A pseudogene has been identified on chromosome 7. Alternative splicing results in multiple transcript variants but their biological validity has not been determined. [provided by RefSeq, Nov 2008]
Expression: Ubiquitous expression in brain (RPKM 16.4), lymph node (RPKM 14.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p11.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (30350773..30355308, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (30736975..30741510, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (30362094..30366629, complement)

Chromosome 16 - NC_000016.10 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 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?

Knockdown of CD2BP2 results in reduced miRNA levels. CD2BP2 stabilizes miRISC and mature miRNAs, maintaining them at levels necessary to properly regulate target gene expression.
Title: TEG-1 CD2BP2 controls miRNA levels by regulating miRISC stability in C. elegans and human cells.
findings indicate that CD2BP2 is not a constitutive binding partner or key regulator of CD2-mediated signaling events
Title: Investigating the functional role of CD2BP2 in T cells.
CD2BP2 is the ligand of the membrane-proximal proline-rich tandem repeat of CD2 in detergent-soluble membrane compartments.
Title: Dynamic interaction of CD2 with the GYF and the SH3 domain of compartmentalized effector molecules.
interaction of CD2BP2 with a tri-snRNP bridging protein (Prp6), coupled with CD2BP2's absence from the tri-snRNP, suggests it might function in tri-snRNP assembly
Title: The human U5 snRNP 52K protein (CD2BP2) interacts with U5-102K (hPrp6), a U4/U6.U5 tri-snRNP bridging protein, but dissociates upon tri-snRNP formation.
there is a function of the GYF domain of CD2BP2 in mediating protein-protein interactions within the spliceosome
Title: Recognition sequences for the GYF domain reveal a possible spliceosomal function of CD2BP2.

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

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

Cda1bg06 (e-PCR)
- UniSTS:88583

SHGC-60983 (e-PCR)
- UniSTS:15164

D16S2595E (e-PCR)
- UniSTS:151664

RH78448 (e-PCR)
- UniSTS:87929

D16S2607E (e-PCR)
- UniSTS:151675

RH98473 (e-PCR)
- UniSTS:92555

RH102875 (e-PCR)
- UniSTS:97209

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ribonucleoprotein complex binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in spliceosomal tri-snRNP complex assembly	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
NOT part_of U4/U6 x U5 tri-snRNP complex	IDA Inferred from Direct Assay more info	PubMed
part_of U5 snRNP	IBA Inferred from Biological aspect of Ancestor more info
part_of U5 snRNP	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in fibrillar center	IDA Inferred from Direct Assay more info
colocalizes_with nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: CD2 antigen cytoplasmic tail-binding protein 2

Names: CD2 cytoplasmic domain-binding protein 2; U5 snRNP 52K protein; protein phosphatase 1, regulatory subunit 59

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.

mRNA and Protein(s)

NM_001243646.2 → NP_001230575.1 CD2 antigen cytoplasmic tail-binding protein 2

See identical proteins and their annotated locations for NP_001230575.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AB033004, BC013854

Consensus CDS

CCDS10675.1

UniProtKB/Swiss-Prot

B2RDX2, O95400, Q9ULP2

UniProtKB/TrEMBL

A0A024QZC1

Related

ENSP00000456935.1, ENST00000569466.1

Conserved Domains (1) summary

cd00072
Location:280 → 340

GYF; GYF domain: contains conserved Gly-Tyr-Phe residues; Proline-binding domain in CD2-binding and other proteins. Involved in signaling lymphocyte activity. Also present in other unrelated proteins (mainly unknown) derived from diverse eukaryotic species.
NM_006110.3 → NP_006101.1 CD2 antigen cytoplasmic tail-binding protein 2

See identical proteins and their annotated locations for NP_006101.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter and more abundant transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AB033004, BC001947, CB135964

Consensus CDS

CCDS10675.1

UniProtKB/Swiss-Prot

B2RDX2, O95400, Q9ULP2

UniProtKB/TrEMBL

A0A024QZC1

Related

ENSP00000304903.3, ENST00000305596.8

Conserved Domains (1) summary

cd00072
Location:280 → 340

GYF; GYF domain: contains conserved Gly-Tyr-Phe residues; Proline-binding domain in CD2-binding and other proteins. Involved in signaling lymphocyte activity. Also present in other unrelated proteins (mainly unknown) derived from diverse eukaryotic species.