EBF3 Chromosome 10
EBF transcription factor 3
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What This Gene Does
This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
"EBF transcription factors|MicroRNA protein coding host genes|IPT domain containing"
Locus Type
gene with protein product
Location
10q26.3
Ensembl
ENSG00000108001
Associated Conditions (21)
Intellectual disability
Hypotonia
ataxia
and delayed development syndrome
X-linked 102
Inborn genetic diseases
See cases
EBF3-related disorder
Oromandibular-limb hypogenesis spectrum
Ataxia
Global developmental delay
Expressive language delay
Isolated Pierre-Robin syndrome
Renal tubular dysgenesis
Neurogenic bladder
Broad-based gait
Developmental regression
Generalized hypotonia
7 conditions
Neurodevelopmental disorder
+1 more conditions
Key Variants
RS1259041590
Conflicting classifications of pathogenicity
Intellectual disability, Hypotonia, ataxia
Health Risk
RS1589974610
Conflicting classifications of pathogenicity
Hypotonia, ataxia, and delayed development syndrome
Health Risk
RS1850629434
Conflicting classifications of pathogenicity
Health Risk
RS2134108332
Conflicting classifications of pathogenicity
Hypotonia, ataxia, and delayed development syndrome
Health Risk
RS2493747181
Conflicting classifications of pathogenicity
Hypotonia, ataxia, and delayed development syndrome
Health Risk
RS1057519092
Likely pathogenic
Hypotonia, ataxia, and delayed development syndrome
Health Risk
RS1057519518
Likely pathogenic
Hypotonia, ataxia, and delayed development syndrome
Health Risk
RS1131692260
Likely pathogenic
Health Risk
RS1131692262
Likely pathogenic
Health Risk
RS1172303286
Likely pathogenic
Health Risk
RS1268207836
Likely pathogenic
Hypotonia, ataxia, and delayed development syndrome
Health Risk
RS1452679706
Likely pathogenic
Hypotonia, ataxia, and delayed development syndrome
Health Risk
All Variants (92)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1085307482 | Health Risk | Pathogenic | — |
| RS1131692258 | Health Risk | Pathogenic | Hypotonia, ataxia, and delayed development syndrome |
| RS1131692259 | Health Risk | Pathogenic | — |
| RS1554904330 | Health Risk | Pathogenic | Hypotonia, ataxia, and delayed development syndrome |
| RS1554935456 | Health Risk | Pathogenic | — |
| RS1554935464 | Health Risk | Pathogenic | — |
| RS1554935484 | Health Risk | Pathogenic | — |
| RS1554937243 | Health Risk | Pathogenic | — |
| RS1554937249 | Health Risk | Pathogenic | — |
| RS1589745620 | Health Risk | Pathogenic | Hypotonia, ataxia, and delayed development syndrome |
| RS1589767274 | Health Risk | Pathogenic | Hypotonia, ataxia, and delayed development syndrome |
| RS1589767433 | Health Risk | Pathogenic | — |
| RS1589974634 | Health Risk | Pathogenic | Hypotonia, ataxia, and delayed development syndrome |
| RS1850117876 | Health Risk | Pathogenic | — |
| RS1850628942 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1852896440 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1859258788 | Health Risk | Pathogenic | Hypotonia, ataxia, and delayed development syndrome |
| RS1859684125 | Health Risk | Pathogenic | Hypotonia, ataxia, and delayed development syndrome |
| RS1859684230 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2133941660 | Health Risk | Pathogenic | — |
| RS2134108087 | Health Risk | Pathogenic | Hypotonia, ataxia, and delayed development syndrome |
| RS2134129705 | Health Risk | Pathogenic | Hypotonia, ataxia, and delayed development syndrome |
| RS2134129858 | Health Risk | Pathogenic | — |
| RS2134610444 | Health Risk | Pathogenic | — |
| RS2134655291 | Health Risk | Pathogenic | — |
| RS2134658539 | Health Risk | Pathogenic | See cases, See cases |
| RS2134659091 | Health Risk | Pathogenic | Hypotonia, ataxia, and delayed development syndrome |
| RS2134662046 | Health Risk | Pathogenic | — |
| RS2493627848 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2493627989 | Health Risk | Pathogenic | — |
| RS2493674575 | Health Risk | Pathogenic | Hypotonia, ataxia, and delayed development syndrome |
| RS2493681122 | Health Risk | Pathogenic | — |
| RS2493681198 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2493761829 | Health Risk | Pathogenic | Hypotonia, ataxia, and delayed development syndrome |
| RS778076484 | Health Risk | Pathogenic | — |
| RS797046136 | Health Risk | Pathogenic | Hypotonia, ataxia, and delayed development syndrome |
| RS869312668 | Health Risk | Pathogenic | Hypotonia, ataxia, and delayed development syndrome |
| RS1057519519 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, ataxia, and delayed development syndrome |
| RS1131692261 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Hypotonia, ataxia |
| RS1564816319 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, ataxia, and delayed development syndrome |
| RS2134659487 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, ataxia, and delayed development syndrome |
| RS779003155 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, ataxia, and delayed development syndrome |