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FANCB
HPA
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  • SUMMARY

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  • BRAIN

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  • FANCB
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

FANCB
Synonyms FAAP95, FAB, FLJ34064
Gene descriptioni

Full gene name according to HGNC.

FA complementation group B
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome X
Cytoband p22.2
Chromosome location (bp) 14690388 - 14873255
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

10
Ensembl ENSG00000181544 (version 109)
Entrez gene 2187
HGNC HGNC:3583
UniProt Q8NB91 (UniProt - Evidence at protein level)
neXtProt NX_Q8NB91
GeneCards FANCB
Antibodypedia FANCB antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

DNA repair protein required for FANCD2 ubiquitination.... show less
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

DNA damage, DNA repair
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
FANCB-201
ENSP00000326819
ENST00000324138
Q8NB91
[Direct mapping] Fanconi anemia group B protein
Show all
A0A024RBW1
[Target identity:100%; Query identity:100%] Fanconi anemia, complementation group B, isoform CRA_a
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785 [chromatin]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006281 [DNA repair]
GO:0006513 [protein monoubiquitination]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
GO:1905168 [positive regulation of double-strand break repair via homologous recombination]
GO:1990414 [replication-born double-strand break repair via sister chromatid exchange]
GO:2000042 [negative regulation of double-strand break repair via homologous recombination]
Show all
859 aa
97.7 kDa
No 0
FANCB-202
ENSP00000397849
ENST00000452869
C9J5X9
[Direct mapping] Fanconi anemia group B protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
832 aa
94.8 kDa
No 0
FANCB-206
ENSP00000498215
ENST00000650831
Q8NB91
[Direct mapping] Fanconi anemia group B protein
Show all
A0A024RBW1
[Target identity:100%; Query identity:100%] Fanconi anemia, complementation group B, isoform CRA_a
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785 [chromatin]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006281 [DNA repair]
GO:0006513 [protein monoubiquitination]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
GO:1905168 [positive regulation of double-strand break repair via homologous recombination]
GO:1990414 [replication-born double-strand break repair via sister chromatid exchange]
GO:2000042 [negative regulation of double-strand break repair via homologous recombination]
Show all
859 aa
97.7 kDa
No 0
FANCB-207
ENSP00000512549
ENST00000696311
   MEMSAT3 predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
864 aa
98.6 kDa
No 0
FANCB-208
ENSP00000512550
ENST00000696312
A0A024RBW1
[Target identity:100%; Query identity:100%] Fanconi anemia, complementation group B, isoform CRA_a
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
859 aa
97.7 kDa
No 0
FANCB-209
ENSP00000512551
ENST00000696313
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
69 aa
7.9 kDa
No 0
FANCB-214
ENSP00000512574
ENST00000696353
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
929 aa
105.5 kDa
No 0
FANCB-215
ENSP00000512575
ENST00000696354
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
880 aa
100.1 kDa
No 0
FANCB-217
ENSP00000512577
ENST00000696356
A0A024RBW1
[Target identity:100%; Query identity:100%] Fanconi anemia, complementation group B, isoform CRA_a
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
859 aa
97.7 kDa
No 0
FANCB-218
ENSP00000512578
ENST00000696357
A0A024RBW1
[Target identity:100%; Query identity:100%] Fanconi anemia, complementation group B, isoform CRA_a
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
859 aa
97.7 kDa
No 0

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