Format

Send to:

Choose Destination

FANCB FA complementation group B [ Homo sapiens (human) ]

Gene ID: 2187, updated on 17-Jun-2019

Summary

Official Symbol
FANCBprovided by HGNC
Official Full Name
FA complementation group Bprovided by HGNC
Primary source
HGNC:HGNC:3583
See related
Ensembl:ENSG00000181544 MIM:300515
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
FA2; FAB; FACB; FAAP90; FAAP95
Summary
This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See FANCB in Genome Data Viewer
Location:
Xp22.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (14690863..14873255, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (14861529..14891184, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985686 Neighboring gene glycine receptor alpha 2 Neighboring gene Sharpr-MPRA regulatory region 3255 Neighboring gene nucleophosmin 1 pseudogene 9 Neighboring gene motile sperm domain containing 2 Neighboring gene tumor protein, translationally-controlled 1 pseudogene 14

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-05-31)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-31)

ClinGen Genome Curation PagePubMed

Pathways from BioSystems

  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • FA core complex, organism-specific biosystem (from KEGG)
    FA core complex, organism-specific biosystemStructural complex; Genetic information processing; Repair system
  • FA core complex, conserved biosystem (from KEGG)
    FA core complex, conserved biosystemStructural complex; Genetic information processing; Repair system
  • Fanconi Anemia Pathway, organism-specific biosystem (from REACTOME)
    Fanconi Anemia Pathway, organism-specific biosystemFanconi anemia (FA) is a genetic disease of genome instability characterized by congenital skeletal defects, aplastic anemia, susceptibility to leukemias, and cellular sensitivity to DNA damaging age...
  • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
    Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Fanconi anemia pathway, conserved biosystem (from KEGG)
    Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
Fanconi anaemia nuclear complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Fanconi anaemia nuclear complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
Fanconi anemia group B protein
Names
Fanconi anemia complementation group B
Fanconi anemia-associated polypeptide of 95 kDa

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.

Genomic

  1. NG_007310.1 RefSeqGene

    Range
    5001..34656
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_496

mRNA and Protein(s)

  1. NM_001018113.3NP_001018123.1  Fanconi anemia group B protein

    See identical proteins and their annotated locations for NP_001018123.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3, encode the same protein.
    Source sequence(s)
    AC140846, AK091383, BP236844
    Consensus CDS
    CCDS14161.1
    UniProtKB/Swiss-Prot
    Q8NB91
    UniProtKB/TrEMBL
    A0A024RBW1
    Related
    ENSP00000498215.1, ENST00000650831.1
  2. NM_001324162.1NP_001311091.1  Fanconi anemia group B protein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1, 2, and 3, encode the same protein.
    Source sequence(s)
    AC140846
    Consensus CDS
    CCDS14161.1
    UniProtKB/Swiss-Prot
    Q8NB91
    UniProtKB/TrEMBL
    A0A024RBW1
  3. NM_152633.3NP_689846.1  Fanconi anemia group B protein

    See identical proteins and their annotated locations for NP_689846.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR, compared to variant 1. Variants 1, 2, and 3, encode the same protein.
    Source sequence(s)
    AK091383
    Consensus CDS
    CCDS14161.1
    UniProtKB/Swiss-Prot
    Q8NB91
    UniProtKB/TrEMBL
    A0A024RBW1
    Related
    ENSP00000326819.3, ENST00000324138.7

RNA

  1. NR_136707.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks multiple 3' exons and terminates at an internal polyA site compared to variant 1. This variant is represented as non-coding because initiation of transcription from the expected start codon would result in an ORF without a stop codon and render the transcript a candidate for non-stop decay.
    Source sequence(s)
    AK091383, BC055411, CA433787

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    14690863..14873255 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545470.2XP_011543772.1  Fanconi anemia group B protein isoform X1

  2. XM_017029356.1XP_016884845.1  Fanconi anemia group B protein isoform X3

  3. XM_017029355.2XP_016884844.1  Fanconi anemia group B protein isoform X2

    UniProtKB/Swiss-Prot
    Q8NB91
    UniProtKB/TrEMBL
    A0A024RBW1

RNA

  1. XR_001755672.1 RNA Sequence

  2. XR_001755674.1 RNA Sequence

  3. XR_001755673.1 RNA Sequence

Support Center