Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2187
Gene name	FA complementation group B
Gene symbol	FANCB
Synonyms (NCBI Gene)	FA2FAAP90FAAP95FABFACB
Chromosome	X
Chromosome location	Xp22.2
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 wi

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
rs1064793758	CAAA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1161918267	A>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1569083185	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1569083464	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1569083679	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1569085810	C>T	Pathogenic	Genic downstream transcript variant, intron variant
rs1601976527	TCCT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1601976655	TTTG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1601977379	C>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1601977844	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1601977912	TCTC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602005062	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1602005335	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602005463	GAGATATTCTTAA>-	Pathogenic	Downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1602006627	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1602006737	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant

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
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0036297	Process	Interstrand cross-link repair	IEA
GO:0036297	Process	Interstrand cross-link repair	NAS	19965384
GO:0043240	Component	Fanconi anaemia nuclear complex	IBA
GO:0043240	Component	Fanconi anaemia nuclear complex	IDA	20347428
GO:0043240	Component	Fanconi anaemia nuclear complex	IEA
GO:0043240	Component	Fanconi anaemia nuclear complex	NAS	22343915
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IBA
GO:1990414	Process	Replication-born double-strand break repair via sister chromatid exchange	IBA
GO:2000042	Process	Negative regulation of double-strand break repair via homologous recombination	IBA

MIM	HGNC	e!Ensembl
300515	3583	ENSG00000181544

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

	KEGG		Reactome
	Fanconi anemia pathway		Fanconi Anemia Pathway

860

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
FANCB-related disorder	Likely pathogenic; Pathogenic	rs2519009603, rs2518988749	RCV003416674 RCV003402801
Fanconi anemia	Likely pathogenic; Pathogenic	rs2147445599, rs2147404831, rs879254329, rs2519009603, rs2519011748, rs2518988414	RCV001927558 RCV001910916 RCV000235722 RCV003523168 RCV003523631 RCV003637682
Fanconi anemia complementation group B	Likely pathogenic; Pathogenic	rs2147445599, rs1569085810, rs2518993205, rs370248837, rs1569083185, rs1569083464, rs1569083679, rs1601976527, rs1601976655, rs1601977379, rs1601977844, rs1601977912, rs143585647, rs1161918267, rs1602005062 View all (4 more)	RCV004555628 RCV000011617 RCV003333679 RCV004576536 RCV000030703 RCV000030704 RCV000851562 RCV000851572 RCV000851570 RCV000851567 RCV000851564 RCV000851563 RCV000851559 RCV000851558 RCV000851556 RCV000851555 RCV000851554 RCV000851553 RCV000851552

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Benign	rs771998496	RCV005901629
Colorectal cancer	Benign	rs202067682	RCV005867862
Familial cancer of breast	Likely benign; Benign	rs398123537, rs202067682	RCV005870945 RCV005867858
Familial pancreatic carcinoma	Benign	rs202067682	RCV005867860
Fanconi anemia complementation group A	Conflicting classifications of pathogenicity	rs142959373	RCV000990470
Fanconi Anemia, X-Linked	Benign; Likely benign; Uncertain significance	rs754552650, rs1057515811, rs202067682	RCV000386373 RCV000303794 RCV000293716
Glioma susceptibility 1	Conflicting classifications of pathogenicity	rs1295003944	RCV004555895
Hereditary cancer-predisposing syndrome	Benign	rs202067682	RCV005638423
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	rs142959373, rs145110602, rs147260208	RCV000720996 RCV000721015 RCV000721057
Malignant lymphoma, large B-cell, diffuse	Benign	rs202067682	RCV005867861
Malignant tumor of breast	Conflicting classifications of pathogenicity; Uncertain significance	rs142959373, rs1601985311	RCV001269483 RCV001004842
Multiple congenital anomalies/dysmorphic syndrome	Conflicting classifications of pathogenicity	rs140363445	RCV005626160
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity; Uncertain significance; Benign	rs753030842, rs761873562, rs2518954563, rs771998496	RCV005911181 RCV005927033 RCV005934654 RCV005901628
Papillary renal cell carcinoma type 1	Benign	rs202067682	RCV005867859
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs776636177	RCV005930359
VACTERL association, X-linked, with or without hydrocephalus	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	rs964099207, rs2147386189, rs143585647, rs993307430, rs2147425036, rs2147447239, rs776802337, rs2147391126, rs1034395123, rs199909156, rs149695930, rs142959373, rs143131218, rs41309679, rs398123537 View all (51 more)	RCV002504711 RCV002506771 RCV005396998 RCV002490032 RCV002482475 RCV002484852 RCV002484554 RCV002484659 RCV002494483 RCV001167815 RCV000352217 RCV000375315 RCV000301708 RCV000301775 RCV002502093 RCV000358820 RCV000260730 RCV000388194 RCV000271181 RCV000396765 RCV000314598 RCV000261702 RCV000360054 RCV000398187 RCV000329862 RCV000351888 RCV000299580 RCV000279173 RCV000397206 RCV000307702 RCV000353202 RCV000400535 RCV000389792 RCV000337705 RCV000268796 RCV001167740 RCV002480393 RCV000766076 RCV002496947 RCV001169617 RCV000766077 RCV002490945 RCV002492951 RCV001167229 RCV001169616 RCV002487698 RCV002501213 RCV001169619 RCV002495286 RCV002495289 RCV001167167 RCV001167742 RCV001165640 RCV001165641 RCV001167813 RCV001165701 RCV001165703 RCV001167291 RCV001167293 RCV001167890 RCV001167892 RCV002484210 RCV002491624 RCV000394031 RCV002486161 RCV002493619
VACTERL with hydrocephalus	Benign; Likely benign; Uncertain significance	rs754552650, rs1057515811, rs202067682	RCV000331728 RCV000339897 RCV000388053
X-linked central congenital hypothyroidism with late-onset testicular enlargement	Benign	rs2188383, rs6527026, rs6527027, rs2375729, rs5935816, rs2905223	RCV000851550 RCV000851569 RCV000851568 RCV000851557 RCV000851551 RCV000851560

Show/Hide Text Mining Associations (36)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Drug Related Side Effects and Adverse Reactions	Stimulate	2119832
Esophageal atresia with or without tracheoesophageal fistula	Associate	36135330
Fanconi Anemia	Associate	16720839, 19405097, 29193904, 30031030, 32106311, 36135330
Fanconi Anemia Complementation Group B	Associate	16679491
Fatigue	Associate	33662100
Geographic Atrophy	Associate	36064790
Head and Neck Neoplasms	Associate	20332657
Hydrocephalus	Associate	29193904
Immunoglobulin G4 Related Disease	Associate	30345709
Immunologic Deficiency Syndromes	Inhibit	4019777
Infertility	Associate	36017582
Infertility Male	Associate	39267058
Inflammation	Stimulate	28245546
Isodicentric Chromosome 15 Syndrome	Associate	9074414
Leukemia Myeloid Acute	Associate	28978904, 29908545, 32615908, 34053988
Leukemia Prolymphocytic	Inhibit	2119832
Lupus Erythematosus Systemic	Associate	3874025
Multiple Myeloma	Associate	9531329
Nausea	Associate	33662100
Neoplasms	Associate	12097420, 15537658, 16110435, 20332657, 24147882, 31601699, 31937788, 32778095, 8090750
Osteosarcoma	Associate	16110435
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	9792297
Squamous Cell Carcinoma of Head and Neck	Associate	20332657
Stomach Neoplasms	Associate	32193747
VACTERL association	Associate	29193904
VACTERL Association With Hydrocephalus	Associate	16679491

FANCB (FA complementation group B)