GLIS2

Mammalian protein found in Homo sapiens
GLIS family zinc finger 2
Identifiers
SymbolGLIS2
Alt. symbolsNPHP7
NCBI gene84662
HGNC29450
OMIM608539
RefSeqNM_032575
UniProtQ9BZE0
Other data
LocusChr. 16 p13.3
Search for
StructuresSwiss-model
DomainsInterPro

GLIS family zinc finger 2 also known as GLIS2 is a human gene.[1][2]

Function

The protein encoded by this gene is a Kruppel-like transcription factor which functions depending on the gene and promoter context as an activator or repressor of gene transcription.[2] GLIS2 plays a role in kidney development and neurogenesis.[2]

Glis2 knockout mice display decreased size and weight. The kidneys in these mice show progressive kidney atrophy and display symptoms similar to human nephronophthisis. Glis2 plays an essential role in the maintenance of renal tissue through prevention of apoptosis and fibrosis.[3]

Clinical significance

Mutations in the GLIS2 gene are associated with nephronophthisis.[3]

References

  1. ^ Zhang F, Jetten AM (December 2001). "Genomic structure of the gene encoding the human GLI-related, Krüppel-like zinc finger protein GLIS2". Gene. 280 (1–2): 49–57. doi:10.1016/S0378-1119(01)00764-8. PMID 11738817.
  2. ^ a b c Zhang F, Nakanishi G, Kurebayashi S, Yoshino K, Perantoni A, Kim YS, Jetten AM (March 2002). "Characterization of Glis2, a novel gene encoding a Gli-related, Krüppel-like transcription factor with transactivation and repressor functions. Roles in kidney development and neurogenesis". The Journal of Biological Chemistry. 277 (12): 10139–49. doi:10.1074/jbc.M108062200. PMID 11741991.
  3. ^ a b AAttanasio M, Uhlenhaut NH, Sousa VH, O'Toole JF, Otto E, Anlag K, Klugmann C, Treier AC, Helou J, Sayer JA, Seelow D, Nürnberg G, Becker C, Chudley AE, Nürnberg P, Hildebrandt F, Treier M (August 2007). "Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis". Nature Genetics. 39 (8): 1018–24. doi:10.1038/ng2072. PMID 17618285. S2CID 6394185.
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Transcription factors and intracellular receptors
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies


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