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- Gene Symbol:
-
BHLHE41SSPN - Entrez Gene ID
- 79365
- 8082
- Gene Name:
- basic helix-loop-helix family member e41
- sarcospan
- Gene Aliases
- BHLHB3, DEC2, SHARP1, hDEC2
- DAGA5, KRAG, NSPN, SPN1, SPN2
- Gene Chromosome Location
- Chr.12: on Build GRCh38
- Chr.12: on Build GRCh38
- UniGene
- Hs.177841
- Hs.183428
- Species:
- Human
- Primer Chromosome Location
- Chr.12: 26123551-26123820 on Build GRCh38 View in UCSC browser
- Amplicon Length
- 270
- Primer Sequences
- Log in to view
- Ampliseq ID's
Genomic Map
Back To TopAssay Details
Gene Information
| BHLHE41 | |||||
|---|---|---|---|---|---|
| Accession | Protein | COSMIC ID | Mutation | AA | |
| RefSeq | NM_030762.2 | NP_110389.1 | 6416608 | c.257C>T | p.A86V |
| 2202804 | c.244C>A | p.H82N | |||
| 7110001 | c.313_314insC | p.Q105fs*46 | |||
| 4041024 | c.289A>C | p.K97Q | |||
| 7204824 | c.341A>G | p.Q114R | |||
| 938201 | c.260T>C | p.V87A | |||
| 5478142 | c.292G>A | p.A98T | |||
| 6611462 | c.291A>C | p.K97N | |||
| 3986832 | c.251A>G | p.E84G | |||
| 430931 | c.301G>A | p.A101T | |||
| 400149 | c.300C>A | p.T100T | |||
| GenBank | AB044088.1 | BAB21502.1 | - | - | - |
| AK303677.1 | - | - | - | ||
| AY665467.1 | AAV54602.1 | - | - | - | |
| BC025968.1 | AAH25968.1 | - | - | - | |
| ENST00000242728.0 | - | - | - | ||
Phenotype
| SSPN | |||||
|---|---|---|---|---|---|
| Accession | Protein | COSMIC ID | Mutation | AA | |
| RefSeq | XM_011520853.2 | XP_011519155.1 | - | - | - |
Phenotype
Literature Links: |
BHLHE41 PubMed Links |
SNP ID
rs1017216278rs199983952rs373335525rs774032866rs779616171rs1006190640rs774950816rs768275832rs766418780rs774688430rs755237237rs149995893rs539801347rs990485339rs937573191rs769121700rs762215751rs145433495rs75677280rs762126095rs767880967rs772510479rs751364900rs573569200rs920835334rs750972946rs773523168rs768367787rs779322635rs762601218Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123760-26123760 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123714-26123714 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123675-26123676 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123774-26123774 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123765-26123765 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123746-26123746 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123586-26123586 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123769-26123769 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123599-26123636 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123610-26123610 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123673-26123673 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123697-26123697 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123667-26123667 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123766-26123766 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123618-26123618 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123720-26123720 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123616-26123616 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123649-26123649 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123678-26123678 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123776-26123776 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123626-26123626 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123779-26123779 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123679-26123679 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123700-26123700 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123591-26123591 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123637-26123637 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123780-26123780 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123604-26123604 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123677-26123677 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123590-26123590 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Back To TopMore Information
Set Membership: |
Between 200-400 bp
|
Panther Classification:
Gene Ontology Categories:
Function(s)
Process(es)
negative regulation of transcription from RNA polymerase II promoter
transcription, DNA-templated
cell proliferation
organ morphogenesis
negative regulation of myotube differentiation
negative regulation of transcription by competitive promoter binding
cell differentiation
circadian regulation of gene expression
negative regulation of transcription, DNA-templated
muscle contraction
cell adhesion
RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
RNA polymerase II activating transcription factor binding
transcriptional repressor activity, RNA polymerase II transcription factor binding
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
transcription corepressor activity
protein binding
protein homodimerization activity
histone deacetylase binding
bHLH transcription factor binding
MRF binding
protein heterodimerization activity
E-box binding
negative regulation of transcription from RNA polymerase II promoter
transcription, DNA-templated
cell proliferation
organ morphogenesis
negative regulation of myotube differentiation
negative regulation of transcription by competitive promoter binding
cell differentiation
circadian regulation of gene expression
negative regulation of transcription, DNA-templated
muscle contraction
cell adhesion
RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
RNA polymerase II activating transcription factor binding
transcriptional repressor activity, RNA polymerase II transcription factor binding
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
transcription corepressor activity
protein binding
protein homodimerization activity
histone deacetylase binding
bHLH transcription factor binding
MRF binding
protein heterodimerization activity
E-box binding
Format:
Each primer will be delivered in a single tube, dried-down
Quick Reference Guide
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