MAFB (MAF bZIP transcription factor B) - Rat Genome Database

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Gene: MAFB (MAF bZIP transcription factor B) Homo sapiens
Analyze
Symbol: MAFB
Name: MAF bZIP transcription factor B
RGD ID: 732545
HGNC Page HGNC
Description: Enables identical protein binding activity. Involved in negative regulation of erythrocyte differentiation and regulation of transcription, DNA-templated. Predicted to be part of chromatin. Predicted to be active in nucleus. Implicated in Duane retraction syndrome and multicentric carpotarsal osteolysis syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DURS3; Kreisler maf-related leucine zipper homolog; KRML; maf-B; MAFB/Kreisler basic region/leucine zipper transcription factor; MCTO; MGC43127; transcription factor MafB; v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B; v-maf musculoaponeurotic fibrosarcoma oncogene family, protein b (avian)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2040,685,848 - 40,689,236 (-)EnsemblGRCh38hg38GRCh38
GRCh382040,685,848 - 40,689,236 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372039,314,488 - 39,317,876 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362038,747,929 - 38,751,290 (-)NCBINCBI36hg18NCBI36
Build 342038,747,928 - 38,751,290NCBI
Celera2036,024,991 - 36,028,352 (-)NCBI
Cytogenetic Map20q12NCBI
HuRef2036,052,429 - 36,055,822 (-)NCBIHuRef
CHM1_12039,218,912 - 39,222,304 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxynon-2-enal  (ISO)
7,12-dimethyltetraphene  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
asbestos  (EXP)
avobenzone  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-D-glucosamine  (ISO)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
calcitriol  (EXP)
cannabidiol  (ISO)
carbamazepine  (EXP,ISO)
carbon nanotube  (ISO)
celastrol  (EXP)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP,ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
cyproconazole  (ISO)
dibenz[a,h]anthracene  (ISO)
dichloromethane  (ISO)
diethylstilbestrol  (ISO)
dinophysistoxin 1  (EXP)
dioxygen  (ISO)
disulfiram  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
ferric oxide  (ISO)
flavonoids  (ISO)
flusilazole  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
gedunin  (EXP)
genistein  (EXP)
glafenine  (ISO)
L-methionine  (ISO)
Licochalcone B  (EXP)
lipopolysaccharide  (ISO)
mercury dibromide  (EXP)
methotrexate  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
naphthalenes  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
orphenadrine  (ISO)
oxaliplatin  (ISO)
panobinostat  (EXP)
paracetamol  (EXP)
pentanal  (EXP)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propanal  (EXP)
SB 431542  (EXP)
sevoflurane  (ISO)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
Soman  (ISO)
succimer  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
triadimefon  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
versicolorin A  (EXP)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal form of the vertebral bodies  (IAGP)
Abnormal pupil morphology  (IAGP)
Abnormal vertebral segmentation and fusion  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of epiphysis morphology  (IAGP)
Absent radius  (IAGP)
Amblyopia  (IAGP)
Aniridia  (IAGP)
Ankle swelling  (IAGP)
Anorectal anomaly  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the thumb  (IAGP)
Arthralgia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Blepharophimosis  (IAGP)
Blepharospasm  (IAGP)
Brachydactyly  (IAGP)
Cachexia  (IAGP)
Camptodactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Carpal osteolysis  (IAGP)
Central heterochromia  (IAGP)
Chorioretinal coloboma  (IAGP)
Cleft palate  (IAGP)
Deeply set eye  (IAGP)
Downturned corners of mouth  (IAGP)
Ectopic kidney  (IAGP)
EMG abnormality  (IAGP)
Everted lower lip vermilion  (IAGP)
External ear malformation  (IAGP)
Facial asymmetry  (IAGP)
Focal-onset seizure  (IAGP)
Gait disturbance  (IAGP)
Global developmental delay  (IAGP)
Hypertension  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplasia of the radius  (IAGP)
Hypoplastic iris stroma  (IAGP)
Impaired ocular abduction  (IAGP)
Impaired ocular adduction  (IAGP)
Iris coloboma  (IAGP)
Irregular hyperpigmentation  (IAGP)
Limitation of joint mobility  (IAGP)
Low posterior hairline  (IAGP)
Metacarpal osteolysis  (IAGP)
Metatarsal osteolysis  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Narrow internal auditory canal  (IAGP)
Nephropathy  (IAGP)
Nystagmus  (IAGP)
Oculomotor nerve palsy  (IAGP)
Optic disc hypoplasia  (IAGP)
Osteolysis involving tarsal bones  (IAGP)
Osteopenia  (IAGP)
Palpebral fissure narrowing on adduction  (IAGP)
Patchy hypopigmentation of hair  (IAGP)
Pes cavus  (IAGP)
Plagiocephaly  (IAGP)
Polyhydramnios  (IAGP)
Preauricular skin tag  (IAGP)
Preaxial hand polydactyly  (IAGP)
Proptosis  (IAGP)
Proteinuria  (IAGP)
Ptosis  (IAGP)
Renal insufficiency  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short neck  (IAGP)
Short palpebral fissure  (IAGP)
Skeletal muscle atrophy  (IAGP)
Slender long bone  (IAGP)
Spina bifida occulta  (IAGP)
Stenosis of the external auditory canal  (IAGP)
Strabismus  (IAGP)
Talipes equinovarus  (IAGP)
Telecanthus  (IAGP)
Triangular face  (IAGP)
Triphalangeal thumb  (IAGP)
Ulnar deviation of the hand  (IAGP)
Ulnar deviation of the hand or of fingers of the hand  (IAGP)
Webbed neck  (IAGP)
Wide nasal bridge  (IAGP)
Wrist swelling  (IAGP)
References

Additional References at PubMed
PMID:8001130   PMID:8620536   PMID:8632993   PMID:10444328   PMID:10698492   PMID:10909854   PMID:11036080   PMID:11780052   PMID:12196529   PMID:12477932   PMID:12499396   PMID:12514174  
PMID:12542795   PMID:12542796   PMID:12798298   PMID:14702039   PMID:14965474   PMID:15107855   PMID:15121870   PMID:15135046   PMID:15489334   PMID:15598817   PMID:16219768   PMID:16344560  
PMID:16456583   PMID:16473681   PMID:18029348   PMID:18615156   PMID:18830254   PMID:18832725   PMID:19013005   PMID:19060906   PMID:19274049   PMID:19332055   PMID:19395026   PMID:20102225  
PMID:20211142   PMID:20301369   PMID:20436469   PMID:20506502   PMID:20581830   PMID:20686565   PMID:20969674   PMID:21129249   PMID:21221126   PMID:21567910   PMID:21732829   PMID:21834038  
PMID:21839147   PMID:21873635   PMID:21988832   PMID:22387013   PMID:22753311   PMID:22903061   PMID:23225151   PMID:23251661   PMID:23661758   PMID:23863625   PMID:23956186   PMID:24097068  
PMID:24327562   PMID:24472656   PMID:24972815   PMID:24981860   PMID:24989131   PMID:25721756   PMID:25917456   PMID:26055874   PMID:26115698   PMID:26180087   PMID:26204962   PMID:26554594  
PMID:27097296   PMID:27181683   PMID:27448450   PMID:27829226   PMID:28000885   PMID:28093525   PMID:28790455   PMID:28933784   PMID:29138297   PMID:29757260   PMID:29779709   PMID:29980194  
PMID:30024657   PMID:30208859   PMID:31059266   PMID:31679694   PMID:31822558   PMID:32090104   PMID:32213710   PMID:32234710   PMID:32278749   PMID:32296183   PMID:32307629   PMID:32488111  
PMID:32513696   PMID:32622525   PMID:32646788   PMID:33268316   PMID:33312178   PMID:33961781  


Genomics

Comparative Map Data
MAFB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2040,685,848 - 40,689,236 (-)EnsemblGRCh38hg38GRCh38
GRCh382040,685,848 - 40,689,236 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372039,314,488 - 39,317,876 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362038,747,929 - 38,751,290 (-)NCBINCBI36hg18NCBI36
Build 342038,747,928 - 38,751,290NCBI
Celera2036,024,991 - 36,028,352 (-)NCBI
Cytogenetic Map20q12NCBI
HuRef2036,052,429 - 36,055,822 (-)NCBIHuRef
CHM1_12039,218,912 - 39,222,304 (-)NCBICHM1_1
Mafb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392160,205,597 - 160,208,985 (-)NCBIGRCm39mm39
GRCm39 Ensembl2160,205,623 - 160,208,985 (-)Ensembl
GRCm382160,363,677 - 160,367,065 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2160,363,703 - 160,367,065 (-)EnsemblGRCm38mm10GRCm38
MGSCv372160,189,413 - 160,192,801 (-)NCBIGRCm37mm9NCBIm37
MGSCv362160,055,202 - 160,058,455 (-)NCBImm8
Celera2166,294,850 - 166,298,242 (-)NCBICelera
Cytogenetic Map2H2NCBI
cM Map280.92NCBI
Mafb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23148,998,111 - 149,000,031 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl3148,998,122 - 149,000,031 (-)Ensembl
Rnor_6.03156,338,993 - 156,340,913 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3156,339,004 - 156,340,913 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03162,572,668 - 162,574,588 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43151,116,831 - 151,118,751 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13151,022,739 - 151,024,660 (-)NCBI
Celera3147,675,895 - 147,677,815 (-)NCBICelera
RH 3.4 Map31369.7RGD
Cytogenetic Map3q42NCBI
Mafb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495544516,219,675 - 16,222,913 (+)NCBIChiLan1.0ChiLan1.0
MAFB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12038,125,705 - 38,128,724 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2038,127,722 - 38,128,693 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02037,023,988 - 37,027,446 (-)NCBIMhudiblu_PPA_v0panPan3
MAFB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12428,769,904 - 28,772,519 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2428,770,944 - 28,774,948 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2428,416,065 - 28,419,157 (-)NCBI
ROS_Cfam_1.02429,474,707 - 29,477,799 (-)NCBI
UMICH_Zoey_3.12428,744,730 - 28,747,822 (-)NCBI
UNSW_CanFamBas_1.02428,848,428 - 28,851,520 (-)NCBI
UU_Cfam_GSD_1.02429,343,869 - 29,346,962 (-)NCBI
Mafb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640177,738,940 - 177,742,271 (-)NCBI
SpeTri2.0NW_0049365611,007,273 - 1,010,548 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MAFB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11743,408,390 - 43,411,782 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21748,698,403 - 48,701,189 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MAFB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1223,092,547 - 23,097,721 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl223,094,713 - 23,095,684 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605071,901,067 - 71,904,494 (+)NCBIVero_WHO_p1.0
Mafb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249191,337,269 - 1,340,607 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH103094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372039,314,653 - 39,314,831UniSTSGRCh37
Build 362038,748,067 - 38,748,245RGDNCBI36
Celera2036,025,129 - 36,025,307RGD
Cytogenetic Map20q11.2-q13.1UniSTS
HuRef2036,052,594 - 36,052,772UniSTS
GeneMap99-GB4 RH Map20225.86UniSTS
G06850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372039,314,614 - 39,314,767UniSTSGRCh37
Build 362038,748,028 - 38,748,181RGDNCBI36
Celera2036,025,090 - 36,025,243RGD
Cytogenetic Map20q11.2-q13.1UniSTS
HuRef2036,052,555 - 36,052,708UniSTS
PMC180917P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372039,316,585 - 39,316,950UniSTSGRCh37
Build 362038,749,999 - 38,750,364RGDNCBI36
Celera2036,027,061 - 36,027,426RGD
HuRef2036,054,527 - 36,054,892UniSTS
MAFB  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372039,315,916 - 39,316,175UniSTSGRCh37
Celera2036,026,392 - 36,026,651UniSTS
HuRef2036,053,857 - 36,054,116UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR130Ahsa-miR-130a-3pMirtarbaseexternal_infoLuciferase reporter assay//Reporter assayFunctional MTI16549775
MIR130Ahsa-miR-130a-5pMirecordsexternal_infoNANA16549775

Predicted Target Of
Summary Value
Count of predictions:1207
Count of miRNA genes:615
Interacting mature miRNAs:686
Transcripts:ENST00000373313, ENST00000396967
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 1
Medium 1564 2066 1307 478 1133 333 3622 1115 1003 291 801 1421 150 1 1202 2281 3 2
Low 808 915 402 135 276 119 714 1071 2669 98 621 111 24 2 506 3
Below cutoff 38 3 12 6 177 7 16 9 59 17 16 58 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000373313   ⟹   ENSP00000362410
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2040,685,848 - 40,689,236 (-)Ensembl
RefSeq Acc Id: NM_005461   ⟹   NP_005452
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382040,685,848 - 40,689,236 (-)NCBI
GRCh372039,314,488 - 39,317,880 (-)NCBI
Build 362038,747,929 - 38,751,290 (-)NCBI Archive
HuRef2036,052,429 - 36,055,822 (-)NCBI
CHM1_12039,218,912 - 39,222,304 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005452   ⟸   NM_005461
- UniProtKB: Q9Y5Q3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000362410   ⟸   ENST00000373313
Protein Domains
bZIP

Promoters
RGD ID:6798750
Promoter ID:HG_KWN:39429
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000396967
Position:
Human AssemblyChrPosition (strand)Source
Build 362038,750,999 - 38,751,499 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005461.5(MAFB):c.184A>C (p.Thr62Pro) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023747] Chr20:40688667 [GRCh38]
Chr20:39317307 [GRCh37]
Chr20:20q12
pathogenic
NM_005461.5(MAFB):c.208T>G (p.Ser70Ala) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023748] Chr20:40688643 [GRCh38]
Chr20:39317283 [GRCh37]
Chr20:20q12
pathogenic
NM_005461.5(MAFB):c.209C>T (p.Ser70Leu) single nucleotide variant Inborn genetic diseases [RCV001266648]|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023749] Chr20:40688642 [GRCh38]
Chr20:39317282 [GRCh37]
Chr20:20q12
pathogenic|likely pathogenic
NM_005461.5(MAFB):c.211C>T (p.Pro71Ser) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023750] Chr20:40688640 [GRCh38]
Chr20:39317280 [GRCh37]
Chr20:20q12
pathogenic
NM_005461.5(MAFB):c.212C>T (p.Pro71Leu) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023751] Chr20:40688639 [GRCh38]
Chr20:39317279 [GRCh37]
Chr20:20q12
pathogenic
NM_005461.5(MAFB):c.161C>T (p.Ser54Leu) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023752]|not provided [RCV000724296] Chr20:40688690 [GRCh38]
Chr20:39317330 [GRCh37]
Chr20:20q12
pathogenic
NM_005461.5(MAFB):c.629G>T (p.Arg210Leu) single nucleotide variant not provided [RCV000722273] Chr20:40688222 [GRCh38]
Chr20:39316862 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.125C>T (p.Pro42Leu) single nucleotide variant not provided [RCV000728664] Chr20:40688726 [GRCh38]
Chr20:39317366 [GRCh37]
Chr20:20q12
uncertain significance
GRCh38/hg38 20q11.22-13.11(chr20:34249453-43359749)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|See cases [RCV000053002] Chr20:34249453..43359749 [GRCh38]
Chr20:32837259..41988389 [GRCh37]
Chr20:32300920..41421803 [NCBI36]
Chr20:20q11.22-13.11
pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12
pathogenic
MAFB, 600-KB DEL deletion Duane syndrome type 3 [RCV000235069] Chr20:20q12 pathogenic
NM_005461.5(MAFB):c.644del (p.Gln215fs) deletion Duane syndrome type 1 [RCV000240779]|Duane syndrome type 3 [RCV000235047] Chr20:40688207 [GRCh38]
Chr20:39316847 [GRCh37]
Chr20:20q12
pathogenic
NM_005461.5(MAFB):c.803del (p.Asn268fs) deletion Duane retraction syndrome 3 with or without deafness [RCV000235061]|Duane syndrome type 1 [RCV000240679] Chr20:40688048 [GRCh38]
Chr20:39316688 [GRCh37]
Chr20:20q12
pathogenic
NM_005461.5(MAFB):c.440del (p.Gly147fs) deletion Duane syndrome type 1 [RCV000240729]|Duane syndrome type 3 [RCV000235078] Chr20:40688411 [GRCh38]
Chr20:39317051 [GRCh37]
Chr20:20q12
pathogenic
NM_005461.4(MAFB):c.(?_391)_*(390_?)del deletion Duane syndrome type 1 [RCV000240735]|Duane syndrome type 3 [RCV000235069] Chr20:40687489..40688460 [GRCh38]
Chr20:39316129..39317100 [GRCh37]
Chr20:20q12
pathogenic
NM_005461.5(MAFB):c.-138G>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000289175] Chr20:40688988 [GRCh38]
Chr20:39317628 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*2008T>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000292875] Chr20:40685871 [GRCh38]
Chr20:39314511 [GRCh37]
Chr20:20q12
benign
NM_005461.5(MAFB):c.*929dup duplication Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000320136] Chr20:40686949..40686950 [GRCh38]
Chr20:39315589..39315590 [GRCh37]
Chr20:20q12
benign
NM_005461.5(MAFB):c.745C>A (p.Arg249=) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000355314]|not provided [RCV000960989] Chr20:40688106 [GRCh38]
Chr20:39316746 [GRCh37]
Chr20:20q12
benign|likely benign
NM_005461.5(MAFB):c.*64C>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000259239] Chr20:40687815 [GRCh38]
Chr20:39316455 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*976G>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000281411] Chr20:40686903 [GRCh38]
Chr20:39315543 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*1679C>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000281836] Chr20:40686200 [GRCh38]
Chr20:39314840 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*1314A>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000274366] Chr20:40686565 [GRCh38]
Chr20:39315205 [GRCh37]
Chr20:20q12
benign|likely benign
NM_005461.5(MAFB):c.*30C>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000316781] Chr20:40687849 [GRCh38]
Chr20:39316489 [GRCh37]
Chr20:20q12
likely benign|uncertain significance
NM_005461.5(MAFB):c.*68G>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000370422] Chr20:40687811 [GRCh38]
Chr20:39316451 [GRCh37]
Chr20:20q12
benign|likely benign
NM_005461.5(MAFB):c.*1019A>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000373690] Chr20:40686860 [GRCh38]
Chr20:39315500 [GRCh37]
Chr20:20q12
benign|likely benign
NM_005461.5(MAFB):c.-310G>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000398975] Chr20:40689160 [GRCh38]
Chr20:39317800 [GRCh37]
Chr20:20q12
benign|likely benign
NM_005461.5(MAFB):c.*1787T>C single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000280001] Chr20:40686092 [GRCh38]
Chr20:39314732 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.399C>T (p.His133=) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000320690] Chr20:40688452 [GRCh38]
Chr20:39317092 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*1519C>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000307525] Chr20:40686360 [GRCh38]
Chr20:39315000 [GRCh37]
Chr20:20q12
likely benign|uncertain significance
NM_005461.5(MAFB):c.*1737A>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000401307] Chr20:40686142 [GRCh38]
Chr20:39314782 [GRCh37]
Chr20:20q12
benign|likely benign
NM_005461.5(MAFB):c.-75C>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000324089] Chr20:40688925 [GRCh38]
Chr20:39317565 [GRCh37]
Chr20:20q12
benign|likely benign
NM_005461.5(MAFB):c.253C>A (p.Leu85Met) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000377699] Chr20:40688598 [GRCh38]
Chr20:39317238 [GRCh37]
Chr20:20q12
benign|likely benign
NM_005461.5(MAFB):c.525C>G (p.Ser175Arg) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000262870] Chr20:40688326 [GRCh38]
Chr20:39316966 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*1255C>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000331819] Chr20:40686624 [GRCh38]
Chr20:39315264 [GRCh37]
Chr20:20q12
likely benign|uncertain significance
NM_005461.5(MAFB):c.-204_-203del deletion Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000384623] Chr20:40689053..40689054 [GRCh38]
Chr20:39317693..39317694 [GRCh37]
Chr20:20q12
likely benign
NM_005461.5(MAFB):c.*1849C>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000333805] Chr20:40686030 [GRCh38]
Chr20:39314670 [GRCh37]
Chr20:20q12
benign
NM_005461.5(MAFB):c.*1803C>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000388390] Chr20:40686076 [GRCh38]
Chr20:39314716 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.-206T>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000293944] Chr20:40689056 [GRCh38]
Chr20:39317696 [GRCh37]
Chr20:20q12
likely benign
NM_005461.5(MAFB):c.*1520C>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000393846] Chr20:40686359 [GRCh38]
Chr20:39314999 [GRCh37]
Chr20:20q12
likely benign
NM_005461.5(MAFB):c.*152G>C single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000313393] Chr20:40687727 [GRCh38]
Chr20:39316367 [GRCh37]
Chr20:20q12
benign|likely benign
NM_005461.5(MAFB):c.*1592del deletion Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000393820] Chr20:40686287 [GRCh38]
Chr20:39314927 [GRCh37]
Chr20:20q12
benign
NM_005461.5(MAFB):c.*1212_*1213insGAGGA insertion Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000277776] Chr20:40686666..40686667 [GRCh38]
Chr20:39315306..39315307 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*503_*506TGTC[1] microsatellite Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000399779] Chr20:40687369..40687372 [GRCh38]
Chr20:39316009..39316012 [GRCh37]
Chr20:20q12
likely benign
NM_005461.5(MAFB):c.362T>C (p.Leu121Pro) single nucleotide variant not provided [RCV000263923] Chr20:40688489 [GRCh38]
Chr20:39317129 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*1210G>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000316762] Chr20:40686669 [GRCh38]
Chr20:39315309 [GRCh37]
Chr20:20q12
likely benign|uncertain significance
NM_005461.5(MAFB):c.189G>A (p.Pro63=) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000266628] Chr20:40688662 [GRCh38]
Chr20:39317302 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*155C>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000407061] Chr20:40687724 [GRCh38]
Chr20:39316364 [GRCh37]
Chr20:20q12
benign|likely benign
NM_005461.5(MAFB):c.*377G>C single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000345530] Chr20:40687502 [GRCh38]
Chr20:39316142 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.-171C>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000346334] Chr20:40689021 [GRCh38]
Chr20:39317661 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.-77C>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000381249] Chr20:40688927 [GRCh38]
Chr20:39317567 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*1591T>C single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000304098] Chr20:40686288 [GRCh38]
Chr20:39314928 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*1433A>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000364500] Chr20:40686446 [GRCh38]
Chr20:39315086 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*1751C>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000335089] Chr20:40686128 [GRCh38]
Chr20:39314768 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*209A>C single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000367021] Chr20:40687670 [GRCh38]
Chr20:39316310 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*881G>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000284498] Chr20:40686998 [GRCh38]
Chr20:39315638 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.-229C>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000351158] Chr20:40689079 [GRCh38]
Chr20:39317719 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*1226C>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000370194] Chr20:40686653 [GRCh38]
Chr20:39315293 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*309A>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000407050] Chr20:40687570 [GRCh38]
Chr20:39316210 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.-338A>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000297555] Chr20:40689188 [GRCh38]
Chr20:39317828 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*1592dup duplication Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000339171] Chr20:40686286..40686287 [GRCh38]
Chr20:39314926..39314927 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*410G>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000288179] Chr20:40687469 [GRCh38]
Chr20:39316109 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*229A>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000310629] Chr20:40687650 [GRCh38]
Chr20:39316290 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*795G>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000341955] Chr20:40687084 [GRCh38]
Chr20:39315724 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*929del deletion Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000376716] Chr20:40686950 [GRCh38]
Chr20:39315590 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*1551G>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000361043] Chr20:40686328 [GRCh38]
Chr20:39314968 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*1019A>C single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139064] Chr20:40686860 [GRCh38]
Chr20:39315500 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.135del (p.Cys46fs) deletion not provided [RCV000599139] Chr20:40688716 [GRCh38]
Chr20:39317356 [GRCh37]
Chr20:20q12
pathogenic
NM_005461.5(MAFB):c.-82T>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139174] Chr20:40688932 [GRCh38]
Chr20:39317572 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.206C>T (p.Ser69Leu) single nucleotide variant not provided [RCV000497479] Chr20:40688645 [GRCh38]
Chr20:39317285 [GRCh37]
Chr20:20q12
likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_005461.5(MAFB):c.184A>G (p.Thr62Ala) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000995802] Chr20:40688667 [GRCh38]
Chr20:39317307 [GRCh37]
Chr20:20q12
pathogenic
NM_005461.5(MAFB):c.72C>T (p.Phe24=) single nucleotide variant not provided [RCV000919230] Chr20:40688779 [GRCh38]
Chr20:39317419 [GRCh37]
Chr20:20q12
likely benign
NM_005461.5(MAFB):c.173C>G (p.Thr58Arg) single nucleotide variant Carpal osteolysis [RCV000845260] Chr20:40688678 [GRCh38]
Chr20:39317318 [GRCh37]
Chr20:20q12
likely pathogenic
NM_005461.5(MAFB):c.648C>T (p.Leu216=) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136923] Chr20:40688203 [GRCh38]
Chr20:39316843 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.-76C>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139173] Chr20:40688926 [GRCh38]
Chr20:39317566 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.185C>T (p.Thr62Ile) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000990302] Chr20:40688666 [GRCh38]
Chr20:39317306 [GRCh37]
Chr20:20q12
pathogenic
NM_005461.5(MAFB):c.526G>A (p.Ala176Thr) single nucleotide variant not provided [RCV001248840] Chr20:40688325 [GRCh38]
Chr20:39316965 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*175G>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001143499] Chr20:40687704 [GRCh38]
Chr20:39316344 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.-269G>C single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001143599] Chr20:40689119 [GRCh38]
Chr20:39317759 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.-297G>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001143600] Chr20:40689147 [GRCh38]
Chr20:39317787 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.714C>T (p.Arg238=) single nucleotide variant not provided [RCV000966088] Chr20:40688137 [GRCh38]
Chr20:39316777 [GRCh37]
Chr20:20q12
benign
NM_005461.5(MAFB):c.153A>G (p.Pro51=) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139172] Chr20:40688698 [GRCh38]
Chr20:39317338 [GRCh37]
Chr20:20q12
uncertain significance
Single allele single nucleotide variant not provided [RCV001530544] Chr20:40689482 [GRCh38]
Chr20:39318122 [GRCh37]
Chr20:20q12
benign
NM_005461.5(MAFB):c.*415G>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141676] Chr20:40687464 [GRCh38]
Chr20:39316104 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.-222G>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141796] Chr20:40689072 [GRCh38]
Chr20:39317712 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.-225C>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141797] Chr20:40689075 [GRCh38]
Chr20:39317715 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*1690G>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001143395] Chr20:40686189 [GRCh38]
Chr20:39314829 [GRCh37]
Chr20:20q12
benign
NM_005461.5(MAFB):c.393C>A (p.His131Gln) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136925] Chr20:40688458 [GRCh38]
Chr20:39317098 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.368G>C (p.Ser123Thr) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136926] Chr20:40688483 [GRCh38]
Chr20:39317123 [GRCh37]
Chr20:20q12
likely benign
NM_005461.5(MAFB):c.329C>A (p.Ala110Glu) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136927] Chr20:40688522 [GRCh38]
Chr20:39317162 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*565C>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141675] Chr20:40687314 [GRCh38]
Chr20:39315954 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*1171A>C single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139063] Chr20:40686708 [GRCh38]
Chr20:39315348 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.224C>A (p.Pro75Gln) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139171] Chr20:40688627 [GRCh38]
Chr20:39317267 [GRCh37]
Chr20:20q12
uncertain significance
Single allele deletion Focal seizures [RCV001004039] Chr20:34980430..46806549 [GRCh37]
Chr20:20q11.23-13.13
likely pathogenic
NM_005461.5(MAFB):c.*1519C>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136820] Chr20:40686360 [GRCh38]
Chr20:39315000 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.420C>T (p.His140=) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136924] Chr20:40688431 [GRCh38]
Chr20:39317071 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.197C>T (p.Ser66Phe) single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001004935] Chr20:40688654 [GRCh38]
Chr20:39317294 [GRCh37]
Chr20:20q12
likely pathogenic
NM_005461.5(MAFB):c.*791C>G single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141674] Chr20:40687088 [GRCh38]
Chr20:39315728 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.*367G>A single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141677] Chr20:40687512 [GRCh38]
Chr20:39316152 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.-130C>T single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141794] Chr20:40688980 [GRCh38]
Chr20:39317620 [GRCh37]
Chr20:20q12
uncertain significance
NM_005461.5(MAFB):c.-211A>C single nucleotide variant Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141795] Chr20:40689061 [GRCh38]
Chr20:39317701 [GRCh37]
Chr20:20q12
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6408 AgrOrtholog
COSMIC MAFB COSMIC
Ensembl Genes ENSG00000204103 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000362410 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000373313 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000204103 GTEx
HGNC ID HGNC:6408 ENTREZGENE
Human Proteome Map MAFB Human Proteome Map
InterPro bZIP UniProtKB/Swiss-Prot
  bZIP_Maf UniProtKB/Swiss-Prot
  Maf_TF_N UniProtKB/Swiss-Prot
  MafB UniProtKB/Swiss-Prot
  TF_DNA-bd_sf UniProtKB/Swiss-Prot
  Transciption_factor_Maf_fam UniProtKB/Swiss-Prot
KEGG Report hsa:9935 UniProtKB/Swiss-Prot
NCBI Gene 9935 ENTREZGENE
OMIM 166300 OMIM
  608968 OMIM
  617041 OMIM
PANTHER PTHR10129 UniProtKB/Swiss-Prot
  PTHR10129:SF10 UniProtKB/Swiss-Prot
Pfam bZIP_Maf UniProtKB/Swiss-Prot
  Maf_N UniProtKB/Swiss-Prot
PharmGKB PA30535 PharmGKB
PROSITE BZIP UniProtKB/Swiss-Prot
SMART BRLZ UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47454 UniProtKB/Swiss-Prot
UniProt L8ECC4_HUMAN UniProtKB/TrEMBL
  MAFB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B3KNE1 UniProtKB/Swiss-Prot
  Q9H1F1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-17 MAFB  MAF bZIP transcription factor B    v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B  Symbol and/or name change 5135510 APPROVED
2013-07-16 MAFB  v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B    v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)  Symbol and/or name change 5135510 APPROVED
2011-08-16 MAFB  v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)  MAFB  v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)  Symbol and/or name change 5135510 APPROVED