PCID2 PCI domain containing 2 [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: PCID2provided by HGNC
Official Full Name: PCI domain containing 2provided by HGNC
Primary source: HGNC:25653
Locus tag: RP11-98F14.6
See related: Ensembl:ENSG00000126226; HPRD:07749; MIM:613713; Vega:OTTHUMG00000017385
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: F10; RP11-98F14.6; FLJ11305; FLJ99362; MGC16774; DKFZp686C20226
Summary: PCID2 is expressed in immature and early-stage B lymphocytes and regulates expression of the mitotic checkpoint protein MAD2 (MAD2L1; MIM 601467) (Nakaya et al., 2010 [PubMed 20870947]).[supplied by OMIM, Jan 2011]

Help top of page

Genomic context

Location :: 13q34

Sequence :: Chromosome: 13; NC_000013.10 (113831925..113863029, complement)

See PCID2 in Epigenomics, MapViewer

Chromosome 13 - NC_000013.10 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

validated occurrence of an unusual TG 3' splice site in intron 2
Title: Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.

Submit: New GeneRIF Correction

Help top of page

Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Help top of page

Products	Interactant	Other Gene	Source	Pubs	Description
Q5JVF3	P60896	SHFM1	HPRD	PubMed
BioGRID:120908	BioGRID:116000	NEK6	BioGRID	PubMed	Affinity Capture-MS
BioGRID:120908	BioGRID:113692	SHFM1	BioGRID	PubMed	Affinity Capture-MS; Co-crystal Structure; Two-hybrid
BioGRID:120908	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Process	Evidence Code	Pubs
negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info
negative regulation of cysteine-type endopeptidase activity	IMP Inferred from Mutant Phenotype more info
positive regulation of B cell differentiation	IEA Inferred from Electronic Annotation more info
positive regulation of mitotic cell cycle spindle assembly checkpoint	IMP Inferred from Mutant Phenotype more info
positive regulation of transcription, DNA-dependent	IMP Inferred from Mutant Phenotype more info
regulation of mRNA stability	IMP Inferred from Mutant Phenotype more info
spleen development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
cellular_component	ND No biological Data available more info

General protein information

Preferred Names: PCI domain-containing protein 2

Names: PCI domain-containing protein 2; CSN12-like protein

Help top of page

NCBI Reference Sequences (RefSeq)

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_001127202.2 → NP_001120674.1 PCI domain-containing protein 2 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the predominant isoform (1). Variants 1-3 encode the same isoform.

Source sequence(s)

AA779868, AI272719, AK001185, BP244753

Consensus CDS

CCDS9532.2

UniProtKB/Swiss-Prot

Q5JVF3

Related

ENSP00000337405, OTTHUMP00000018756, ENST00000337344, OTTHUMT00000045897

Conserved Domains (2) summary

COG5600
Location:80 – 393
Blast Score: 445

COG5600; Transcription-associated recombination protein [DNA replication, recombination, and repair]

cl02111
Location:279 – 386
Blast Score: 141

PCI; PCI domain
NM_001127203.2 → NP_001120675.1 PCI domain-containing protein 2 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1-3 encode the same isoform (1).

Source sequence(s)

AA779868, AI272719, BC016614, BP244753

Consensus CDS

CCDS9532.2

UniProtKB/Swiss-Prot

Q5JVF3

Related

ENSP00000364626, OTTHUMP00000018760, ENST00000375477, OTTHUMT00000045902

Conserved Domains (2) summary

COG5600
Location:80 – 393
Blast Score: 445

COG5600; Transcription-associated recombination protein [DNA replication, recombination, and repair]

cl02111
Location:279 – 386
Blast Score: 141

PCI; PCI domain
NM_001258212.1 → NP_001245141.1 PCI domain-containing protein 2 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses alternate acceptor splice sites at two neighboring exons, and differs in the 3' UTR compared to variant 1. It maintains the reading frame, and encodes a longer isoform (2) containing an internal protein segment not found in isoform 1.

Source sequence(s)

AA779868, AI272719, AK002167, BC016614, BP244753
NM_001258213.1 → NP_001245142.1 PCI domain-containing protein 2 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (5) contains an alternate 5' terminal exon compared to variant 1, which results in translation initiation from a different AUG, and a shorter isoform (3) with a distinct C-terminus compared to isoform 1.

Source sequence(s)

AA779868, AI272719, BC031246, BM932149, DA058550
NM_018386.3 → NP_060856.2 PCI domain-containing protein 2 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 3' UTR compared to variant 1. Variants 1-3 encode the same isoform (1).

Source sequence(s)

AA779868, AI272719, AK023313, BP244753

Consensus CDS

CCDS9532.2

UniProtKB/TrEMBL

A8K097

UniProtKB/Swiss-Prot

Q5JVF3

Related

ENSP00000364628, OTTHUMP00000018758, ENST00000375479, OTTHUMT00000045899

Conserved Domains (2) summary

COG5600
Location:80 – 393
Blast Score: 445

COG5600; Transcription-associated recombination protein [DNA replication, recombination, and repair]

cl02111
Location:279 – 386
Blast Score: 141

PCI; PCI domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000013.10 Reference GRCh37.p5 Primary Assembly

Range

113831925..113863029, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000145.1 Alternate HuRef

Range

94270812..94301913, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL136221.38	CAI13792.1
		CAI13793.1
		CAI13794.1
genomic	AL137002.19	CAI41377.1
		CAI41378.1
		CAI41379.1
		CAI41391.1
genomic	CH471085.1	EAX09189.1
		EAX09190.1
		EAX09191.1
		EAX09192.1
		EAX09193.1
		EAX09194.1
		EAX09195.1
		EAX09196.1
		EAX09197.1
		EAX09198.1
		EAX09199.1
		EAX09200.1
mRNA	AA779868.1	None
mRNA	AF183426.1	AAG09695.1
mRNA	AI272719.1	None
mRNA	AK000888.1	BAA91407.1
mRNA	AK001185.1	BAA91542.1
mRNA	AK001302.1	BAA91611.1
mRNA	AK002167.1	BAA92118.1
mRNA	AK023313.1	BAB14521.1
mRNA	AK024478.1	BAB15768.1
mRNA	AK098706.1	None
mRNA	AK289462.1	BAF82151.1
mRNA	AK309321.1	None
mRNA	BC008975.1	AAH08975.1
mRNA	BC016614.1	AAH16614.1
mRNA	BC031246.1	AAH31246.1
mRNA	BM932149.1	None
mRNA	BP244753.1	None
mRNA	DA058550.1	None