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Hairy/enhancer-of-split related with YRPW motif 2

Identifiers

Symbols HEY2; GRL; CHF1; HERP1; HESR2; HRT2; MGC10720

External IDs OMIM: 604674 MGI: 1341884 HomoloGene: 22705

Gene ontology

Molecular function: • DNA binding
• transcription factor activity
• protein binding
• transcription regulator activity

Cellular component: • nucleus

Biological process: • vasculogenesis
• regulation of transcription, DNA-dependent
• Notch signaling pathway
• nervous system development
• organ morphogenesis

RNA expression pattern

More reference expression data

Orthologs

Human Mouse

Entrez 23493 15214

Ensembl ENSG00000135547 ENSMUSG00000019789

Uniprot Q9UBP5 Q0VGJ1

Refseq NM_012259 (mRNA)
NP_036391 (protein) NM_013904 (mRNA)
NP_038932 (protein)

Location Chr 6: 126.11 - 126.12 Mb Chr 10: 30.52 - 30.53 Mb

Pubmed search [1] [2]

Hairy/enhancer-of-split related with YRPW motif 2, also known as HEY2, is a human gene.^[1]

This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deacetylase complex to repress transcription. Expression of this gene is induced by the Notch signal transduction pathway. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternatively spliced transcript variants have been found, but their biological validity has not been determined.^[1]

References

^ ^a ^b "Entrez Gene: HEY2 hairy/enhancer-of-split related with YRPW motif 2".

Further reading

Iso T, Kedes L, Hamamori Y (2003). "HES and HERP families: multiple effectors of the Notch signaling pathway.". J. Cell. Physiol. 194 (3): 237–55. doi:10.1002/jcp.10208. PMID 12548545.
Kokubo H, Miyagawa-Tomita S, Johnson RL (2006). "Hesr, a mediator of the Notch signaling, functions in heart and vessel development.". Trends Cardiovasc. Med. 15 (5): 190–4. doi:10.1016/j.tcm.2005.05.005. PMID 16165016.
Leimeister C, Externbrink A, Klamt B, Gessler M (1999). "Hey genes: a novel subfamily of hairy- and Enhancer of split related genes specifically expressed during mouse embryogenesis.". Mech. Dev. 85 (1-2): 173–7. PMID 10415358.
Chin MT, Maemura K, Fukumoto S, et al. (2000). "Cardiovascular basic helix loop helix factor 1, a novel transcriptional repressor expressed preferentially in the developing and adult cardiovascular system.". J. Biol. Chem. 275 (9): 6381–7. PMID 10692439.
Zhong TP, Rosenberg M, Mohideen MA, et al. (2000). "gridlock, an HLH gene required for assembly of the aorta in zebrafish.". Science 287 (5459): 1820–4. PMID 10710309.
Steidl C, Leimeister C, Klamt B, et al. (2000). "Characterization of the human and mouse HEY1, HEY2, and HEYL genes: cloning, mapping, and mutation screening of a new bHLH gene family.". Genomics 66 (2): 195–203. doi:10.1006/geno.2000.6200. PMID 10860664.
Firulli BA, Hadzic DB, McDaid JR, Firulli AB (2000). "The basic helix-loop-helix transcription factors dHAND and eHAND exhibit dimerization characteristics that suggest complex regulation of function.". J. Biol. Chem. 275 (43): 33567–73. doi:10.1074/jbc.M005888200. PMID 10924525.
Nakagawa O, McFadden DG, Nakagawa M, et al. (2001). "Members of the HRT family of basic helix-loop-helix proteins act as transcriptional repressors downstream of Notch signaling.". Proc. Natl. Acad. Sci. U.S.A. 97 (25): 13655–60. doi:10.1073/pnas.250485597. PMID 11095750.
Iso T, Sartorelli V, Chung G, et al. (2001). "HERP, a new primary target of Notch regulated by ligand binding.". Mol. Cell. Biol. 21 (17): 6071–9. PMID 11486044.
Iso T, Sartorelli V, Poizat C, et al. (2001). "HERP, a novel heterodimer partner of HES/E(spl) in Notch signaling.". Mol. Cell. Biol. 21 (17): 6080–9. PMID 11486045.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Takata T, Ishikawa F (2003). "Human Sir2-related protein SIRT1 associates with the bHLH repressors HES1 and HEY2 and is involved in HES1- and HEY2-mediated transcriptional repression.". Biochem. Biophys. Res. Commun. 301 (1): 250–7. PMID 12535671.
Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6.". Nature 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.
Fischer A, Klamt B, Schumacher N, et al. (2005). "Phenotypic variability in Hey2 -/- mice and absence of HEY2 mutations in patients with congenital heart defects or Alagille syndrome.". Mamm. Genome 15 (9): 711–6. doi:10.1007/s00335-004-2389-x. PMID 15389319.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Kokubo H, Miyagawa-Tomita S, Nakazawa M, et al. (2005). "Mouse hesr1 and hesr2 genes are redundantly required to mediate Notch signaling in the developing cardiovascular system.". Dev. Biol. 278 (2): 301–9. doi:10.1016/j.ydbio.2004.10.025. PMID 15680351.
Doi H, Iso T, Yamazaki M, et al. (2006). "HERP1 inhibits myocardin-induced vascular smooth muscle cell differentiation by interfering with SRF binding to CArG box.". Arterioscler. Thromb. Vasc. Biol. 25 (11): 2328–34. doi:10.1161/01.ATV.0000185829.47163.32. PMID 16151017.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.

External links

MeSH HEY2+protein,+human

This article on a gene on chromosome 6 is a stub. You can help Wikipedia by expanding it.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

v • d • e

Transcription factors and intracellular receptors

(1) Basic domains

(1.1) Basic leucine zipper (bZIP)	Activating transcription factor (AATF, 1, 2, 3, 4, 5, 6, 7) • AP-1 (c-Fos, FOSB, FOSL1, FOSL2, 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 • HLF • MAF (B, F, G, K) • NFE (2, L1, L2) • NRL • NRF1 • XBP1

(1.2) Basic helix-loop-helix (bHLH)	ATOH1 • AhR • AHRR • ARNT • ASCL1 • BHLHB2 • BMAL (ARNTL, ARNTL2) • CLOCK • EPAS1 • HAND (1, 2) • HES (5, 6) • HEY (1, 2, L) • HES1 • HIF (1A, 3A) • ID (1, 2, 3, 4) • LYL1 • MXD4 • MYCL1 • MYCN • Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) • Neurogenins • NeuroD (1, 2) • NPAS (1, 2, 3) • OLIG (1, 2) • Scleraxis • TAL1 • Twist • USF1

(1.3) bHLH-ZIP	AP-4 • MAX • MITF • MNT • MLX • MXI1 • Myc • SREBP (1, 2)

(1.4) NF-1	NFIC

(1.5) RF-X	NFX1

(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, TFIIF (1, 2), TFIIH (1, 2, 4, 2I, 3A, 3C1, 3C2)) ATBF1 • BCL (6, 11A, 11B) • CTCF • E4F1 • EGR (2, 3) • ERV3 • GFI1 • GLI-Krüppel family (1, 2, 3, S2, YY1) • HIC (1, 2) • HIVEP (1, 2, 3) • IKZF (1, 2, 3) • ILF (2, 3) • KLF (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 17 ) • MTF1 • MYT1 • OSR1 • SP (1, 2, 4, 7) • Zbtb7 (7A, 7B) • ZBTB (16, 17, 20, 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, 295, 318, 330, 346, 350, 365, 366, 384, 423, 451, 452, 471, 593, 638, 649, 655)

(2.4) Cys₆	HIVEP1

(2.5) Alternating composition	AIRE • DIDO1 • GRLF1 • ING (1, 2, 4) • JARID (1A, 1B, 1C, 1D, 2) • JMJD1B

(3) Helix-turn-helix domains

(3.1) Homeo domain	ARX • CDX (1, 2) • CRX • CUTL1 • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox (A1, 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, C13, D1, D3, D4, D8, D9, D10, D11, D12, D13) • HOPX • MEIS (1, 2) • MEOX2 • MNX1 • MSX (1, 2) • NANOG • NKX (2-1, 2-2, 2-3, 2-5, 3-1, 3-2) • PBX (1, 2, 3) • PHF (1, 3, 6, 8, 10, 16, 17, 20, 21A) • PITX (1, 2, 3) • POU domain (PIT-1, BRN-3: A, B, C, Octamer transcription factor: 1, 2, 3/4, 6, 7, 11) • OTX (1, 2) • PDX1

(3.2) Paired box	PAX (1, 2, 3, 4, 5, 6, 7, 8, 9)

(3.3) Fork head / winged helix	E2F (1, 2, 3, 4, 5) • FOX proteins (C1, C2, E1, G1, H1, K2, L2, M1, N3, O1A, O3A, O4, P1, P2, P3)

(3.4) Heat Shock Factors	HSF (1, 2, 4)

(3.5) Tryptophan clusters	ELF (4, 5) • EGF • ELK (1, 3, 4) • ERF • ERG • ETS (1, 2, 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

(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	p53 • TBX (1, 2, 3, 5, 19, 21, 22)

(4.4) MADS box	Mef2 (A, B, C, D) • SRF

(4.6) TATA binding proteins	TBP • TBPL1

(4.7) High mobility group	HMGB (1, 2, 3) • HNF (1A, 1B) • LEF1 • SOX (2, 3, 4, 5, 6, 8, 9, 10, 11, 12, 13, 14, 15, 18, 21) • SRY • SSRP1 • TOX (1, 2, 3, 4)

(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 • NFI (A, B, C, X) • NFY (A, B, C) • Rho/Sigma • R-SMAD

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