TCF12 Chromosome 15
Transcription factor 12
Upload your DNA to see your personal genotypes for variants in TCF12.
What This Gene Does
The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
15q21.3
Ensembl
ENSG00000140262
Associated Conditions (14)
TCF12-related craniosynostosis
Hypogonadotropic hypogonadism 26 with or without anosmia
TCF12-related disorder
Inborn genetic diseases
Coronal craniosynostosis
Craniosynostosis syndrome
Developmental disorder
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Delayed speech and language development
Global developmental delay
Developmental delay
Autism spectrum disorder
HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA
Squamous cell lung carcinoma
Key Variants
RS1191340189
Conflicting classifications of pathogenicity
TCF12-related craniosynostosis, Hypogonadotropic hypogonadism 26 with or without anosmia, TCF12-related craniosynostosis
Health Risk
RS1349009265
Conflicting classifications of pathogenicity
TCF12-related craniosynostosis, TCF12-related disorder, TCF12-related craniosynostosis
Health Risk
RS143889768
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146447299
Conflicting classifications of pathogenicity
Health Risk
RS149621019
Conflicting classifications of pathogenicity
Health Risk
RS2551314154
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2551469564
Conflicting classifications of pathogenicity
TCF12-related craniosynostosis, TCF12-related craniosynostosis
Health Risk
RS730880016
Conflicting classifications of pathogenicity
TCF12-related craniosynostosis, Inborn genetic diseases, TCF12-related craniosynostosis
Health Risk
RS753036829
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057524509
Likely pathogenic
Health Risk
RS1348990547
Likely pathogenic
TCF12-related craniosynostosis, TCF12-related craniosynostosis
Health Risk
RS1555392502
Likely pathogenic
Health Risk
All Variants (97)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2151924005 | Health Risk | Pathogenic | — |
| RS2151925569 | Health Risk | Pathogenic | TCF12-related craniosynostosis, Squamous cell lung carcinoma, TCF12-related craniosynostosis |
| RS2151933961 | Health Risk | Pathogenic | — |
| RS2152009015 | Health Risk | Pathogenic | — |
| RS2152019791 | Health Risk | Pathogenic | TCF12-related craniosynostosis, TCF12-related craniosynostosis |
| RS2152019859 | Health Risk | Pathogenic | HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA |
| RS2152056837 | Health Risk | Pathogenic | HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA |
| RS2152060519 | Health Risk | Pathogenic | Craniosynostosis syndrome, Craniosynostosis syndrome |
| RS2152060795 | Health Risk | Pathogenic | — |
| RS2152098451 | Health Risk | Pathogenic | — |
| RS2498942293 | Health Risk | Pathogenic | — |
| RS2551438479 | Health Risk | Pathogenic | — |
| RS2551469629 | Health Risk | Pathogenic | TCF12-related craniosynostosis, TCF12-related craniosynostosis |
| RS2551469699 | Health Risk | Pathogenic | TCF12-related disorder, TCF12-related disorder |
| RS2551482755 | Health Risk | Pathogenic | — |
| RS2551484806 | Health Risk | Pathogenic | — |
| RS2551484936 | Health Risk | Pathogenic | — |
| RS2551485019 | Health Risk | Pathogenic | — |
| RS2551491616 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2551491638 | Health Risk | Pathogenic | — |
| RS2551491721 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2551492625 | Health Risk | Pathogenic | — |
| RS2551492629 | Health Risk | Pathogenic | — |
| RS2551501177 | Health Risk | Pathogenic | — |
| RS2551501239 | Health Risk | Pathogenic | — |
| RS2551501285 | Health Risk | Pathogenic | — |
| RS2551501300 | Health Risk | Pathogenic | TCF12-related craniosynostosis, TCF12-related craniosynostosis |
| RS2551501386 | Health Risk | Pathogenic | — |
| RS2551501427 | Health Risk | Pathogenic | — |
| RS398122381 | Health Risk | Pathogenic | TCF12-related craniosynostosis, TCF12-related craniosynostosis |
| RS730880015 | Health Risk | Pathogenic | TCF12-related craniosynostosis, TCF12-related craniosynostosis |
| RS730880017 | Health Risk | Pathogenic | TCF12-related craniosynostosis, TCF12-related craniosynostosis |
| RS730880326 | Health Risk | Pathogenic | TCF12-related craniosynostosis, TCF12-related craniosynostosis |
| RS753261578 | Health Risk | Pathogenic | — |
| RS758543580 | Health Risk | Pathogenic | TCF12-related craniosynostosis, TCF12-related craniosynostosis |
| RS760718747 | Health Risk | Pathogenic | Autism spectrum disorder, Hypogonadotropic hypogonadism 26 with or without anosmia, TCF12-related craniosynostosis |
| RS768463051 | Health Risk | Pathogenic | — |
| RS886037636 | Health Risk | Pathogenic | TCF12-related craniosynostosis, TCF12-related craniosynostosis |
| RS886037637 | Health Risk | Pathogenic | TCF12-related craniosynostosis, HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA, TCF12-related disorder |
| RS886037638 | Health Risk | Pathogenic | TCF12-related craniosynostosis, TCF12-related craniosynostosis |
| RS886037639 | Health Risk | Pathogenic | TCF12-related craniosynostosis, TCF12-related craniosynostosis |
| RS886037641 | Health Risk | Pathogenic | TCF12-related craniosynostosis, TCF12-related craniosynostosis |
| RS1057520132 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 26 with or without anosmia, Hypogonadotropic hypogonadism 26 with or without anosmia |
| RS1225388174 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2059175292 | Health Risk | Pathogenic/Likely pathogenic | TCF12-related craniosynostosis, TCF12-related craniosynostosis |
| RS554037047 | Health Risk | Pathogenic/Likely pathogenic | TCF12-related craniosynostosis, TCF12-related craniosynostosis |
| RS747222651 | Health Risk | Pathogenic/Likely pathogenic | TCF12-related craniosynostosis, TCF12-related craniosynostosis |