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SIX2

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

SIX2

Identifiers

Aliases

SIX2, SIX homeobox 2

External IDs

OMIM:604994;MGI:102778;HomoloGene:56518;GeneCards:SIX2;OMA:SIX2 - orthologs

Gene location (Human)

Chr.	Chromosome 2 (human)^[1]

Band	2p21	Start	45,005,182bp^[1]
Band	2p21	End	45,009,452bp^[1]

Gene location (Mouse)

Chr.	Chromosome 17 (mouse)^[2]

Band	17 E4\|17 55.72 cM	Start	85,991,705bp^[2]
Band	17 E4\|17 55.72 cM	End	85,995,702bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

olfactory zone of nasal mucosa

gastrocnemius muscle

parotid gland

muscle of thigh

nasal epithelium

tendon of biceps brachii

testicle

tibialis anterior muscle

palpebral conjunctiva

pituitary gland

Top expressed in

genital tubercle

vestibular membrane of cochlear duct

maxillary prominence

parotid gland

external carotid artery

vestibular sensory epithelium

internal carotid artery

urethra

utricle

muscle of thigh

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	DNA binding sequence-specific DNA binding DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific transcription factor binding RNA polymerase II cis-regulatory region sequence-specific DNA binding protein-containing complex binding DNA-binding transcription factor activity, RNA polymerase II-specific transcription cis-regulatory region binding
Cellular component	nucleus transcription regulator complex
Biological process	embryonic skeletal system morphogenesis regulation of chondrocyte differentiation regulation of transcription, DNA-templated positive regulation of chondrocyte proliferation chondrocyte differentiation protein import into nucleus kidney development negative regulation of cell differentiation anatomical structure morphogenesis mesenchymal stem cell maintenance involved in nephron morphogenesis mesenchymal to epithelial transition involved in metanephros morphogenesis mesenchymal cell differentiation involved in kidney development mesenchymal stem cell proliferation transcription by RNA polymerase II regulation of branching involved in ureteric bud morphogenesis multicellular organism development nephron morphogenesis nephron development middle ear morphogenesis embryonic digestive tract morphogenesis embryonic cranial skeleton morphogenesis regulation of ossification cell population proliferation mesodermal cell fate specification anterior/posterior axis specification metanephros development cell migration positive regulation of transcription by RNA polymerase II condensed mesenchymal cell proliferation negative regulation of transcription, DNA-templated anatomical structure development
Sources:Amigo /QuickGO

Orthologs

Species

Human

Mouse

Entrez


10736


20472

Ensembl


ENSG00000170577


ENSMUSG00000024134

UniProt


Q9NPC8 Q8TBA2


Q62232

RefSeq (mRNA)


NM_016932


NM_011380

RefSeq (protein)


NP_058628 NP_058628.3


NP_035510

Location (UCSC)

Chr 2: 45.01 – 45.01 Mb

Chr 17: 85.99 – 86 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Homeobox protein SIX2 is aprotein that in humans is encoded by theSIX2gene.^[5]^[6]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000170577 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000024134 –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.
^"Entrez Gene: SIX2 sine oculis homeobox homolog 2 (Drosophila)".
^Oliver, Guillermo (1995)."Homeobox genes and connective tissue patterning"(PDF).Development.121 (3):693–705.doi:10.1242/dev.121.3.693.hdl:11858/00-001M-0000-0013-037D-E.PMID 7720577.

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.Bibcode:2002PNAS...9916899M.doi:10.1073/pnas.242603899.PMC 139241.PMID 12477932.
López-Ríos J, Tessmar K, Loosli F, et al. (2003)."Six3 and Six6 activity is modulated by members of the groucho family".Development.130 (1):185–95.doi:10.1242/dev.00185.PMID 12441302.
Ikeda K, Watanabe Y, Ohto H, Kawakami K (2002)."Molecular interaction and synergistic activation of a promoter by Six, Eya, and Dach proteins mediated through CREB binding protein".Mol. Cell. Biol.22 (19):6759–66.doi:10.1128/MCB.22.19.6759-6766.2002.PMC 134036.PMID 12215533.
Buller C, Xu X, Marquis V, et al. (2002)."Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome".Hum. Mol. Genet.10 (24):2775–81.doi:10.1093/hmg/10.24.2775.PMID 11734542.
Boucher CA, Winchester CL, Hamilton GM, et al. (2000). "Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2".Gene.247 (1–2):145–51.doi:10.1016/S0378-1119(00)00105-0.PMID 10773454.
Celli J, van Beusekom E, Hennekam RC, et al. (2000)."Familial syndromic esophageal atresia maps to 2p23-p24".Am. J. Hum. Genet.66 (2):436–44.doi:10.1086/302779.PMC 1288096.PMID 10677303.
Kawakami K, Ohto H, Takizawa T, Saito T (1996)."Identification and expression of six family genes in mouse retina".FEBS Lett.393 (2–3):259–63.Bibcode:1996FEBSL.393..259K.doi:10.1016/0014-5793(96)00899-X.PMID 8814301.S2CID 20829948.

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 2 is astub. You can help Wikipedia byexpanding it.

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