U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 2187, updated on 4-Nov-2022

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; AllianceGenome:HGNC:3583
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See FANCB in Genome Data Viewer
Location:
Xp22.2
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (14689524..14873069, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (14423924..14453587, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (14861527..14891191, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene glycine receptor alpha 2 Neighboring gene uncharacterized LOC107985686 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:14691306-14692505 Neighboring gene nucleophosmin 1 pseudogene 9 Neighboring gene motile sperm domain containing 2 Neighboring gene TPT1 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 Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-06-23)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-06-23)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

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)

NEW Try the new Transcript table

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 isoform 1

    See identical proteins and their annotated locations for NP_001018123.1

    Status: REVIEWED

    Source sequence(s)
    AC140846, AK091383, BP236844
    Consensus CDS
    CCDS14161.1
    UniProtKB/Swiss-Prot
    Q86XG1, Q8NB91
    UniProtKB/TrEMBL
    A0A024RBW1
    Related
    ENSP00000498215.1, ENST00000650831.1
  2. NM_001324162.2NP_001311091.1  Fanconi anemia group B protein isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC140846
    Consensus CDS
    CCDS14161.1
    UniProtKB/Swiss-Prot
    Q86XG1, Q8NB91
    UniProtKB/TrEMBL
    A0A024RBW1
    Related
    ENSP00000512550.1, ENST00000696312.1
  3. NM_001410764.1NP_001397693.1  Fanconi anemia group B protein isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC095352, AC140846
    Consensus CDS
    CCDS94554.1
    UniProtKB/TrEMBL
    A0A8Q3WL66
  4. NM_152633.4NP_689846.1  Fanconi anemia group B protein isoform 1

    See identical proteins and their annotated locations for NP_689846.1

    Status: REVIEWED

    Source sequence(s)
    AC140846, AK091383
    Consensus CDS
    CCDS14161.1
    UniProtKB/Swiss-Prot
    Q86XG1, Q8NB91
    UniProtKB/TrEMBL
    A0A024RBW1
    Related
    ENSP00000326819.3, ENST00000324138.7

RNA

  1. NR_136707.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AK091383, BC055411, CA433787

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    14689524..14873069 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545470.3XP_011543772.1  Fanconi anemia group B protein isoform X1

    Related
    ENSP00000512574.1, ENST00000696353.1
  2. XM_047441922.1XP_047297878.1  Fanconi anemia group B protein isoform X3

    UniProtKB/TrEMBL
    C9J5X9
  3. XM_047441923.1XP_047297879.1  Fanconi anemia group B protein isoform X3

    UniProtKB/TrEMBL
    C9J5X9
  4. XM_017029356.2XP_016884845.1  Fanconi anemia group B protein isoform X3

    UniProtKB/TrEMBL
    C9J5X9
    Related
    ENSP00000397849.2, ENST00000452869.2
  5. XM_047441924.1XP_047297880.1  Fanconi anemia group B protein isoform X3

    UniProtKB/TrEMBL
    C9J5X9
  6. XM_047441921.1XP_047297877.1  Fanconi anemia group B protein isoform X2

    UniProtKB/Swiss-Prot
    Q86XG1
    UniProtKB/TrEMBL
    A0A024RBW1
  7. XM_047441920.1XP_047297876.1  Fanconi anemia group B protein isoform X2

    UniProtKB/Swiss-Prot
    Q86XG1
    UniProtKB/TrEMBL
    A0A024RBW1

RNA

  1. XR_007068184.1 RNA Sequence

  2. XR_001755674.2 RNA Sequence

  3. XR_001755672.2 RNA Sequence

  4. XR_001755673.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    14423924..14453587 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)