FANCB (FA complementation group B)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2187
Gene name Gene Name - the full gene name approved by the HGNC.
FA complementation group B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FANCB
Synonyms (NCBI Gene) Gene synonyms aliases
FA2, FAAP90, FAAP95, FAB, FACB
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 wi
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
SNP ID Visualize variation Clinical significance Consequence
rs143585647 G>A,T Pathogenic Stop gained, missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs146157131 G>A Conflicting-interpretations-of-pathogenicity Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs149695930 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs200161949 A>G Conflicting-interpretations-of-pathogenicity Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs879254329 A>G Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(16)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 22343915
GO:0005515 Function Protein binding IPI 17396147
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm TAS
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300515 3583 ENSG00000181544
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8NB91
Protein name Fanconi anemia group B protein (Protein FACB) (Fanconi anemia-associated polypeptide of 95 kDa) (FAAP95)
Protein function DNA repair protein required for FANCD2 ubiquitination.
PDB 7KZP , 7KZQ , 7KZR , 7KZS , 7KZT , 7KZV
Family and domains
Sequence 
MTSKQAMSSNEQERLLCYNGEVLVFQLSKGNFADKEPTKTPILHVRRMVFDRGTKVFVQK
STGFFTIKEENSHLKIMCCNCVSDFRTGINLPYIVIEKNKKNNVFEYFLLILHSTNKFEM
RLSFKLGYEMKDGLRVLNGPLILWRHVKAFFFISSQTGKVVSVSGNFSSIQWAGEIENLG
MVLLGLKECCLSEEECTQEPSKSDYAIWNTKFCVYSLESQEVLSDIYIIPPAYSSVVTYV
HICATEIIKNQLRISLIALTRKNQLISFQNGTPKNVCQLPFGDPCAVQLMDSGGGNLFFV
VSFISNNACAVWKESFQVAAKWEKLSLVLIDDFIGSGTEQVLLLFKDSLNSDCLTSFKIT
DLGKINYSSEPSDCNEDDLFEDKQENRYLVVPPLETGLKVCFSSFRELRQHLLLKEKIIS
KSYKALINLVQGKDDNTSSAEEKECLVPLCGEEENSVHILDEKLSDNFQDSEQLVEKIWY
RVIDDSLVVGVKTTSSLKLSLNDVTLSLLMDQAHDSRFRLLKCQNRVIKLSTNPFPAPYL
MPCEIGLEAKRVTLTPDSKKEESFVCEHPSKKECVQIITAVTSLSPLLTFSKFCCTVLLQ
IMERESGNCPKDRYVVCGRVFLSLEDLSTGKYLLTFPKKKPIEHMEDLFALLAAFHKSCF
QITSPGYALNSMKVWLLEHMKCEIIKEFPEVYFCERPGSFYGTLFTWKQRTPFEGILIIY
SRNQTVMFQCLHNLIRILPINCFLKNLKSGSENFLIDNMAFTLEKELVTLSSLSSAIAKH
ESNFMQRCEVSKGKSSVVAAALSDRRENIHPYRKELQREKKKMLQTNLKVSGALYREITL
KVAEVQLKSDFAAQKLSNL
Sequence length 859
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Fanconi anemia pathway   Fanconi Anemia Pathway
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Fanconi Anemia Fanconi anemia complementation group B, fanconi anemia rs1601976655, rs1601977379, rs1601977844, rs1601977912, rs143585647, rs1569085810, rs1161918267, rs1569083185, rs1602005062, rs1569083464, rs1602005335, rs879254329, rs1602005463, rs1569083679, rs1602006627
View all (2 more)		 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Malignant tumor of breast N/A N/A ClinVar
Central Congenital Hypothyroidism With Testicular Enlargement, X-Linked x-linked central congenital hypothyroidism with late-onset testicular enlargement N/A N/A ClinVar
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS vacterl association, x-linked, with or without hydrocephalus N/A N/A ClinVar
Show/Hide Text Mining Associations (36)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Associate 33662100
Anemia Sickle Cell Associate 7685112
Anorexia Associate 33662100
Astrocytoma Associate 29741737
Azoospermia Nonobstructive Associate 36017582
Bone Marrow Failure Disorders Associate 32106311
Carcinoma Hepatocellular Associate 32703154
Colonic Neoplasms Associate 8090750
Congenital Abnormalities Associate 32106311
DNA Repair Deficiency Disorders Associate 33662100