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BHLHB2

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

BHLHE40

Identifiers

Aliases

BHLHE40, BHLHB2, DEC1, HLHB2, SHARP-2, STRA13, Stra14, basic helix-loop-helix family member e40, Clast5, SHARP2

External IDs

OMIM:604256;MGI:1097714;HomoloGene:2722;GeneCards:BHLHE40;OMA:BHLHE40 - orthologs

Gene location (Human)

Chr.	Chromosome 3 (human)^[1]

Band	3p26.1	Start	4,979,437bp^[1]
Band	3p26.1	End	4,985,323bp^[1]

Gene location (Mouse)

Chr.	Chromosome 6 (mouse)^[2]

Band	6\|6 E2	Start	108,637,590bp^[2]
Band	6\|6 E2	End	108,643,886bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

saphenous vein

vena cava

beta cell

mucosa of pharynx

synovial joint

pericardium

tail of epididymis

gastric mucosa

mucosa of paranasal sinus

human penis

Top expressed in

ankle

decidua

plantaris muscle

extensor digitorum longus muscle

cervix

iris

left lobe of liver

tibialis anterior muscle

ciliary body

triceps brachii muscle

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	DNA binding protein dimerization activity protein homodimerization activity MRF binding transcription corepressor activity protein domain specific binding DNA-binding transcription factor activity DNA-binding transcription repressor activity, RNA polymerase II-specific bHLH transcription factor binding E-box binding protein binding protein heterodimerization activity transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II transcription regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding transcription factor binding sequence-specific DNA binding sequence-specific double-stranded DNA binding
Cellular component	cytoplasm nucleus nuclear body
Biological process	regulation of transcription, DNA-templated response to light stimulus rhythmic process negative regulation of transcription by RNA polymerase II circadian regulation of gene expression transcription, DNA-templated negative regulation of DNA-binding transcription factor activity negative regulation of transcription, DNA-templated entrainment of circadian clock by photoperiod circadian rhythm somitogenesis Notch signaling pathway cell differentiation regulation of neurogenesis
Sources:Amigo /QuickGO

Orthologs

Species

Human

Mouse

Entrez


8553


20893

Ensembl


ENSG00000134107


ENSMUSG00000030103

UniProt


O14503


O35185

RefSeq (mRNA)


NM_003670


NM_011498

RefSeq (protein)


NP_003661


NP_035628

Location (UCSC)

Chr 3: 4.98 – 4.99 Mb

Chr 6: 108.64 – 108.64 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Class E basic helix-loop-helix protein 40 is aprotein that in humans is encoded by theBHLHE40gene.^[5]^[6]^[7]^[8]

Function

[edit]

DEC1 encodes a basic helix-loop-helix protein expressed in various tissues. Expression in the chondrocytes is responsive to the addition of Bt2cAMP. Differentiated embryo chondrocyte expressed gene 1 is believed to be involved in the control of cell differentiation.^[8]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000134107 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000030103 –Ensembl, May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Shen M, Kawamoto T, Yan W, Nakamasu K, Tamagami M, Koyano Y, Noshiro M, Kato Y (Jul 1997). "Molecular characterization of the novel basic helix-loop-helix protein DEC1 expressed in differentiated human embryo chondrocytes".Biochemical and Biophysical Research Communications.236 (2):294–8.doi:10.1006/bbrc.1997.6960.PMID 9240428.
^Antonevich T, Taneja R (Oct 1999). "Assignment1 of the human Stra13 gene (STRA13) to chromosome 3p26 by in situ hybridization".Cytogenetics and Cell Genetics.85 (3–4):254–5.doi:10.1159/000015305.PMID 10449910.S2CID 25761427.
^Stevens JD, Roalson EH, Skinner MK (Nov 2008)."Phylogenetic and expression analysis of the basic helix-loop-helix transcription factor gene family: genomic approach to cellular differentiation".Differentiation; Research in Biological Diversity.76 (9):1006–22.doi:10.1111/j.1432-0436.2008.00285.x.PMC 5728086.PMID 18557763.
^^a ^b"Entrez Gene: BHLHB2 basic helix-loop-helix domain containing, class B, 2".

External links

[edit]

BHLHB2+protein,+human at the U.S. National Library of MedicineMedical Subject Headings (MeSH)
FactorBook BHLHE40
HumanBHLHE40 genome location andBHLHE40 gene details page in theUCSC Genome Browser.
HumanDEC1 genome location andDEC1 gene details page in theUCSC Genome Browser.
HumanSTRA13 genome location andSTRA13 gene details page in theUCSC Genome Browser.

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

Transcription factors andintracellular receptors

(1) Basic domains

(1.1) Basicleucine zipper (bZIP)

Activating transcription factor
- AATF
- 1
- 2
- 3
- 4
- 5
- 6
- 7
AP-1
- c-Fos
- FOSB
- FOSL1
- FOSL2
- JDP2
- c-Jun
- JUNB
- JunD
BACH
- 1
- 2
BATF
BLZF1
C/EBP
- α
- β
- γ
- δ
- ε
- ζ
CREB
- 1
- 3
- L1
CREM
DBP
DDIT3
GABPA
GCN4
HLF
MAF
- B
- sMaf
  - F
  - G
  - K
NFE
- 2
- L1
- L2
- L3
NFIL3
NRL
NRF
- 1
- 2
- 3
XBP1

(1.2) Basic helix-loop-helix (bHLH)

Group A	AS-C ASCL1 ASCL2 ATOH1 HAND 1 2 MESP2 Myogenic regulatory factors MyoD Myogenin MYF5 MYF6 NeuroD 1 2 Neurogenins 1 2 3 OLIG 1 2 Paraxis TCF15 Scleraxis SLC LYL1 TAL 1 2 Twist
Group B	FIGLA Myc c-Myc l-Myc n-Myc MXD4 TCF4
Group C bHLH-PAS	AhR AHRR ARNT ARNTL ARNTL2 CLOCK HIF 1A EPAS1 3A NPAS 1 2 3 PER 1 2 3 Period SIM 1 2
Group D	BHLH 2 3 9 Pho4 ID 1 2 3 4
Group E	HES 1 2 3 4 5 6 7 HEY 1 2 L
Group F bHLH-COE	EBF1

(1.3)bHLH-ZIP

(1.4) NF-1

NFI
- A
- B
- C
- X
SMAD
- R-SMAD
  - 1
  - 2
  - 3
  - 5
  - 9
- I-SMAD
  - 6
  - 7
- 4)

(1.5) RF-X

RFX
- 1
- 2
- 3
- 4
- 5
- 6
- ANK

(1.6) Basic helix-span-helix (bHSH)

AP-2
- α
- β
- γ
- δ
- ε

(2)Zinc finger DNA-binding domains

(2.1)Nuclear receptor(Cys₄)

subfamily 1	Thyroid hormone α β CAR FXR LXR α β PPAR α β/δ γ PXR RAR α β γ ROR α β γ Rev-ErbA α β VDR
subfamily 2	COUP-TF (I II Ear-2 HNF4 α γ PNR RXR α β γ Testicular receptor 2 4 TLX
subfamily 3	Steroid hormone Androgen Estrogen α β Glucocorticoid Mineralocorticoid Progesterone Estrogen related α β γ
subfamily 4	NUR NGFIB NOR1 NURR1
subfamily 5	LRH-1 SF1
subfamily 6	GCNF
subfamily 0	DAX1 SHP

(2.2) Other Cys₄

GATA
- 1
- 2
- 3
- 4
- 5
- 6
MTA
- 1
- 2
- 3
TRPS1

(2.3) Cys₂His₂

General transcription factors
- TFIIA
- TFIIB
- TFIID
- TFIIE
  - 1
  - 2
- TFIIF
- 1
- 2
  - TFIIH
  - 1
  - 2
  - 4
  - 2I
  - 3A
  - 3C1
  - 3C2

ATBF1
BCL
- 6
- 11A
- 11B
CTCF
E4F1
EGR
- 1
- 2
- 3
- 4
ERV3
GFI1
GLI family
- 1
- 2
- 3
- REST
- S1
- S2
- YY1
HIC
- 1
- 2
HIVEP
- 1
- 2
- 3
IKZF
- 1
- 2
- 3
ILF
- 2
- 3
Sp/KLF family
- KLF
  - 1
  - 2
  - 3
  - 4
  - 5
  - 6
  - 7
  - 8
  - 9
  - 10
  - 11
  - 12
  - 13
  - 14
  - 15
  - 17
- SP
  - 1
  - 2
  - 4
  - 7
  - 8
MTF1
MYT1
OSR1
PRDM9
SALL
- 1
- 2
- 3
- 4
TSHZ3
WT1
Zbtb7
- 7A
- 7B
ZBTB
- 11
- 16
- 17
- 20
- 21
- 32
- 33
- 40
zinc finger
- 3
- 7
- 9
- 10
- 19
- 22
- 24
- 33B
- 34
- 35
- 41
- 43
- 44
- 51
- 74
- 143
- 146
- 148
- 165
- 202
- 217
- 219
- 238
- 239
- 259
- 267
- 268
- 281
- 300
- 318
- 330
- 346
- 350
- 365
- 366
- 384
- 423
- 451
- 452
- 471
- 593
- 638
- 644
- 649
- 655
- 804A

(2.4) Cys₆

HIVEP1

(2.5) Alternating composition

AIRE
DIDO1
GRLF1
ING
- 1
- 2
- 4
JARID
- 1A
- 1B
- 1C
- 1D
- 2
JMJD1B

(2.6) WRKY

WRKY

(3)Helix-turn-helixdomains

(3.1)Homeodomain

Antennapedia
ANTP class

protoHOX Hox-like	ParaHox Gsx 1 2 Xlox PDX1 Cdx 1 2 4 extended Hox:Evx1 Evx2 MEOX1 MEOX2 Homeobox A1 A2 A3 A4 A5 A7 A9 A10 A11 A13 B1 B2 B3 B4 B5 B6 B7 B8 B9 B13 C4 C5 C6 C8 C9 C10 C11 C12 C13 D1 D3 D4 D8 D9 D10 D11 D12 D13 GBX1 GBX2 MNX1
metaHOX NK-like	BARHL1 BARHL2 BARX1 BARX2 BSX DBX 1 2 DLX 1 2 3 4 5 6 EMX 1 2 EN 1 2 HHEX HLX LBX1 LBX2 MSX 1 2 NANOG NKX 2-1 2-2 2-3 2-5 3-1 3-2 HMX1 HMX2 HMX3 6-1 6-2 NOTO TLX1 TLX2 TLX3 VAX1 VAX2

other

ARX
CRX
CUTL1
FHL
- 1
- 2
- 3
HESX1
HOPX
LMX
- 1A
- 1B
NOBOX
TALE
- IRX
  - 1
  - 2
  - 3
  - 4
  - 5
  - 6
  - MKX
- MEIS
  - 1
  - 2
- PBX
  - 1
  - 2
  - 3
- PKNOX
  - 1
  - 2
- SIX
  - 1
  - 2
  - 3
  - 4
  - 5
PHF
- 1
- 3
- 6
- 8
- 10
- 16
- 17
- 20
- 21A
POU domain
- PIT-1
- BRN-3:A
- B
- C
- Octamer transcription factor:1
- 2
- 3/4
- 6
- 7
- 11
SATB2
ZEB
- 1
- 2

(3.2) Paired box

PAX
- 1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
- 9
PRRX
- 1
- 2
PROP1
PHOX
- 2A
- 2B
RAX
SHOX
SHOX2
VSX1
VSX2
Bicoid
- GSC
- BICD2
- OTX
  - 1
  - 2
- PITX
  - 1
  - 2
  - 3

(3.3)Fork head /winged helix

E2F
- 1
- 2
- 3
- 4
- 5
FOX proteins
- A1
- A2
- A3
- B1
- B2
- C1
- C2
- D1
- D2
- D3
- D4
- D4L1
- D4L3
- D4L4
- D4L5
- D4L6
- E1
- E3
- F1
- F2
- G1
- H1
- I1
- I2
- I3
- J1
- J2
- J3
- K1
- K2
- L1
- L2
- M1
- N1
- N2
- N3
- N4
- O1
- O3
- O4
- O6
- P1
- P2
- P3
- P4
- Q1
- R1
- R2
- S1

(3.4)Heat shock factors

HSF
- 1
- 2
- 4

(3.5) Tryptophan clusters

ELF
- 2
- 4
- 5
EHF
ELK
- 1
- 3
- 4
ERF
ETS
- 1
- 2
- ERG
- SPIB
ETV
- 1
- 4
- 5
- 6
FLI1
Interferon regulatory factors
- 1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
MYB
MYBL2

(3.6) TEA domain

transcriptional enhancer factor
- 1
- 2
- 3
- 4

(4)β-Scaffold factors with minor groove contacts

(4.1)Rel homology region	NF-κB NFKB1 NFKB2 REL RELA RELB NFAT C1 C2 C3 C4 5
(4.2)STAT	STAT 1 2 3 4 5 6
(4.3) p53-like	p53 p63 p73 family p53 TP63 p73 TBX 1 2 3 5 19 21 22 TBR1 TBR2 TFT MYRF
(4.4)MADS box	Mef2 A B C D SRF
(4.6)TATA-binding proteins	TBP TBPL1
(4.7)High-mobility group	BBX HMGB 1 2 3 4 HMGN 1 2 3 4 HNF 1A 1B SOX 1 2 3 4 5 6 8 9 10 11 12 13 14 15 17 18 21 SRY SSRP1 TCF/LEF TCF 1 3 4 LEF1 TOX 1 2 3 4
(4.9) Grainyhead	TFCP2
(4.10) Cold-shock domain	CSDA YBX1
(4.11) Runt	CBF CBFA2T2 CBFA2T3 RUNX1 RUNX2 RUNX3 RUNX1T1

(0) Other transcription factors

(0.2) HMGI(Y)	HMGA 1 2 HBP1
(0.3)Pocket domain	Rb RBL1 RBL2
(0.5)AP-2/EREBP-related factors	Apetala 2 EREBP B3
(0.6) Miscellaneous	ARID 1A 1B 2 3A 3B 4A CAP IFI 16 35 MLL 2 3 T1 MNDA NFY A B C Rho/Sigma

see alsotranscription factor/coregulator deficiencies

This article on agene on humanchromosome 3 is astub. You can help Wikipedia byexpanding it.

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Function

References

Further reading

External links