Fancb Fanconi anemia, complementation group B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fancbprovided by MGI
Official Full Name: Fanconi anemia, complementation group Bprovided by MGI
Primary source: MGI:MGI:2448558
See related: Ensembl:ENSMUSG00000047757 AllianceGenome:MGI:2448558
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Acts upstream of or within several processes, including cellular response to camptothecin; regulation of double-strand break repair via homologous recombination; and replication-born double-strand break repair via sister chromatid exchange. Predicted to be located in nucleus. Predicted to be part of Fanconi anaemia nuclear complex. Human ortholog(s) of this gene implicated in Fanconi anemia complementation group B and head and neck squamous cell carcinoma. Orthologous to human FANCB (FA complementation group B). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in liver E14 (RPKM 2.2), CNS E11.5 (RPKM 2.0) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: X F5; X 76.75 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (163763678..163780266)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (164980480..164997272)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Fancb deficiency causes premature ovarian insufficiency in micedagger.
Title: Fancb deficiency causes premature ovarian insufficiency in mice†.
Data suggest that Fanconi anemia complementation group B protein Fancb(-/y) mouse model for studying the Fanconi anemia (FA) pathway not only in germ cell development but also in the maintenance of hematopoietic stem cell (HSC) function.
Title: Fancb deficiency impairs hematopoietic stem cell function.
FANCB functions at critical stages of germ cell development and reveal a novel function of the FA pathway in the regulation of H3K9 methylation in the germline.
Title: FANCB is essential in the male germline and regulates H3K9 methylation on the sex chromosomes during meiosis.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within DNA repair	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cellular response to camptothecin	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cellular response to xenobiotic stimulus	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cellular response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in interstrand cross-link repair	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of double-strand break repair via homologous recombination	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of double-strand break repair via homologous recombination	IGI Inferred from Genetic Interaction more info	PubMed
involved_in replication-born double-strand break repair via sister chromatid exchange	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within replication-born double-strand break repair via sister chromatid exchange	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of Fanconi anaemia nuclear complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Fanconi anaemia nuclear complex	ISO Inferred from Sequence Orthology more info
part_of chromatin	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: Fanconi anemia group B protein homolog

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_001146081.2 → NP_001139553.1 Fanconi anemia group B protein homolog isoform 1

See identical proteins and their annotated locations for NP_001139553.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AL732426

Consensus CDS

CCDS53242.1

UniProtKB/Swiss-Prot

Q5XJY6

UniProtKB/TrEMBL

Q3TEX6

Related

ENSMUSP00000128141.2, ENSMUST00000167446.8
NM_175027.5 → NP_778192.3 Fanconi anemia group B protein homolog isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame segment in the 3' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.

Source sequence(s)

AL732426

Consensus CDS

CCDS90772.1

UniProtKB/Swiss-Prot

Q5XJY6

UniProtKB/TrEMBL

B1AW75

Related

ENSMUSP00000051402.8, ENSMUST00000057150.8