PALB2 partner and localizer of BRCA2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PALB2provided by HGNC
Official Full Name: partner and localizer of BRCA2provided by HGNC
Primary source: HGNC:HGNC:26144
See related: Ensembl:ENSG00000083093 MIM:610355; AllianceGenome:HGNC:26144
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: FANCN; PNCA3; BROVCA5
Summary: This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 4.0), esophagus (RPKM 2.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p12.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (23603165..23641310, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (23878974..23917118, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (23614486..23652631, 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
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?

PALB2-mutated human mammary cells display a broad spectrum of morphological and functional abnormalities induced by increased TGFbeta signaling.
Title: PALB2-mutated human mammary cells display a broad spectrum of morphological and functional abnormalities induced by increased TGFβ signaling.
Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations.
Title: Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations.
Factors that differentiate cancer risk management decisions among females with pathogenic/likely pathogenic variants in PALB2, CHEK2, and ATM.
Title: Factors that differentiate cancer risk management decisions among females with pathogenic/likely pathogenic variants in PALB2, CHEK2, and ATM.
Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2.
Title: Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2.
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.
Title: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.
Low Expression of PALB2 is Associated With Poor Survival in Chinese Women With Primary Breast Cancer.
Title: Low Expression of PALB2 is Associated With Poor Survival in Chinese Women With Primary Breast Cancer.
PALB2 germline mutations in a large cohort of Middle Eastern breast-ovarian cancer patients.
Title: PALB2 germline mutations in a large cohort of Middle Eastern breast-ovarian cancer patients.
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
Title: UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
Study on TFF1 and PALB2 gene variants associated with gastric carcinoma risk in the Chinese Han population.
Title: Study on TFF1 and PALB2 gene variants associated with gastric carcinoma risk in the Chinese Han population.
Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing.
Title: Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing.

Submit: New GeneRIF Correction See all GeneRIFs (215)

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

Associated conditions

Description	Tests
Breast-ovarian cancer, familial, susceptibility to, 5 MedGen: C5830615 OMIM: 620442 GeneReviews: Not available	not available
Fanconi anemia complementation group N MedGen: C1835817 OMIM: 610832 GeneReviews: Fanconi Anemia	Compare labs
Hereditary cancer-predisposing syndrome MedGen: C0027672 GeneReviews: Not available	Compare labs
Pancreatic cancer, susceptibility to, 3 MedGen: C3150547 OMIM: 613348 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder. 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

RH68430 (e-PCR)
- UniSTS:66835

RH67994 (e-PCR)
- UniSTS:72889

RH65008 (e-PCR)
- UniSTS:88566

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in animal organ morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic organ development	IEA Inferred from Electronic Annotation more info
involved_in inner cell mass cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in mesoderm development	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in post-anal tail morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in somitogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of DNA repair complex	IPI Inferred from Physical Interaction more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: partner and localizer of BRCA2

Names: mutant partner and localizer of BRCA2

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_007406.1 RefSeqGene

Range

5001..43196

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_308

mRNA and Protein(s)

NM_001407296.1 → NP_001394225.1 partner and localizer of BRCA2 isoform 2

Status: REVIEWED

Source sequence(s)

AC008870, KC877588
NM_001407297.1 → NP_001394226.1 partner and localizer of BRCA2 isoform 3

Status: REVIEWED

Source sequence(s)

AC008870, KC877588
NM_001407298.1 → NP_001394227.1 partner and localizer of BRCA2 isoform 4

Status: REVIEWED

Source sequence(s)

AC008870, KC877588

Related

ENSP00000513286.2, ENST00000697377.2
NM_001407299.1 → NP_001394228.1 partner and localizer of BRCA2 isoform 5

Status: REVIEWED

Source sequence(s)

AC008870
NM_001407300.1 → NP_001394229.1 partner and localizer of BRCA2 isoform 6

Status: REVIEWED

Source sequence(s)

AC008870, KC877588
NM_001407301.1 → NP_001394230.1 partner and localizer of BRCA2 isoform 7

Status: REVIEWED

Source sequence(s)

AC008870, KC877588

UniProtKB/TrEMBL

I3L1Z5

Related

ENSP00000459237.2, ENST00000566069.6
NM_001407302.1 → NP_001394231.1 partner and localizer of BRCA2 isoform 8

Status: REVIEWED

Source sequence(s)

AC008870, KC877588
NM_001407304.1 → NP_001394233.1 partner and localizer of BRCA2 isoform 9

Status: REVIEWED

Source sequence(s)

AC008870, KC877588

UniProtKB/TrEMBL

H3BN63, I3L3R6

Related

ENSP00000513284.1, ENST00000697374.1
NM_001407305.1 → NP_001394234.1 partner and localizer of BRCA2 isoform 9

Status: REVIEWED

Source sequence(s)

AC008870, KC877588

Consensus CDS

CCDS92128.1

UniProtKB/TrEMBL

H3BN63, I3L3R6
NM_001407306.1 → NP_001394235.1 partner and localizer of BRCA2 isoform 9

Status: REVIEWED

Source sequence(s)

AC008870, KC877588

UniProtKB/TrEMBL

H3BN63, I3L3R6

Related

ENSP00000454703.2, ENST00000568219.5
NM_001407307.1 → NP_001394236.1 partner and localizer of BRCA2 isoform 10

Status: REVIEWED

Source sequence(s)

AC008870, KC877588
NM_001407308.1 → NP_001394237.1 partner and localizer of BRCA2 isoform 11

Status: REVIEWED

Source sequence(s)

AC008870
NM_001407309.1 → NP_001394238.1 partner and localizer of BRCA2 isoform 11

Status: REVIEWED

Source sequence(s)

AC008870
NM_001407310.1 → NP_001394239.1 partner and localizer of BRCA2 isoform 12

Status: REVIEWED

Source sequence(s)

AC008870, KC877588

UniProtKB/TrEMBL

A0A8V8TMK8
NM_001407311.1 → NP_001394240.1 partner and localizer of BRCA2 isoform 12

Status: REVIEWED

Source sequence(s)

AC008870, KC877588

UniProtKB/TrEMBL

A0A8V8TMK8

Related

ENSP00000513285.1, ENST00000697376.1
NM_001407312.1 → NP_001394241.1 partner and localizer of BRCA2 isoform 13

Status: REVIEWED

Source sequence(s)

AC008870, KC877588
NM_001407313.1 → NP_001394242.1 partner and localizer of BRCA2 isoform 14

Status: REVIEWED

Source sequence(s)

AC008870, KC877588
NM_001407314.1 → NP_001394243.1 partner and localizer of BRCA2 isoform 15

Status: REVIEWED

Source sequence(s)

AC008870, KC877588

UniProtKB/TrEMBL

A0A8V8TLC8

Related

ENSP00000513289.1, ENST00000697383.1
NM_024675.4 → NP_078951.2 partner and localizer of BRCA2 isoform 1

See identical proteins and their annotated locations for NP_078951.2

Status: REVIEWED

Source sequence(s)

BE670820, BX647130

Consensus CDS

CCDS32406.1

UniProtKB/Swiss-Prot

A6NIE1, Q86YC2, Q8N7Y6, Q8ND31, Q9H6W1

UniProtKB/TrEMBL

A0AA52I2C1

Related

ENSP00000261584.4, ENST00000261584.9

Conserved Domains (1) summary

pfam16756
Location:837 → 1184

PALB2_WD40; Partner and localizer of BRCA2 WD40 domain