ZFX

ZFX
Identifiers
Aliases	ZFX, ZNF926, zinc finger protein, X-linked, zinc finger protein X-linked
External IDs	OMIM: 314980; MGI: 99211; GeneCards: ZFX
Gene location (Human)
Chr.	X chromosome (human)
End	24,216,255 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	93,167,308 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; sural nerve; ; germinal epithelium; ; epithelium of colon; ; monocyte; ; Skeletal muscle tissue of rectus abdominis; ; testicle; ; stromal cell of endometrium; ; tibia; ; Skeletal muscle tissue of biceps brachii;
	Top expressed in
	medullary collecting duct; ; renal corpuscle; ; ciliary body; ; vestibular sensory epithelium; ; medial ganglionic eminence; ; ureter; ; Ileal epithelium; ; iris; ; primitive streak; ; left lung lobe;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	DNA binding; transcription coactivator activity; metal ion binding; nucleic acid binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	nucleus; nucleoplasm; nucleolus;
Biological process	multicellular organism development; transcription, DNA-templated; regulation of transcription, DNA-templated; regulation of transcription by RNA polymerase II; positive regulation of nucleic acid-templated transcription; ovarian follicle development; germ cell development; spermatogenesis; fertilization; post-embryonic development; multicellular organism growth; oocyte development; homeostasis of number of cells; parental care;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	7543
	22764
	ENSG00000005889
	ENSMUSG00000079509
	P17010
	P17012
NM_001178084; NM_001178085; NM_001178086; NM_001178095; NM_003410;
	NM_001330327
NM_001044386; NM_011768; NM_001358354; NM_001358355; NM_001358356;
	NM_001358357
NP_001171555; NP_001171556; NP_001171557; NP_001171566; NP_001317256;
	NP_003401
NP_001037851; NP_035898; NP_001345283; NP_001345284; NP_001345285;
	NP_001345286
	Wikidata
View/Edit Human	View/Edit Mouse

Zinc finger X-chromosomal protein is a protein that in mammals is encoded by the ZFX gene of the X chromosome.

Function

This gene on the X chromosome is structurally similar to a related gene on the Y chromosome (ZFY). It encodes a member of the krüppel C2H2-type zinc-finger protein family. The full-length protein contains an acidic transcriptional activation domain (AD), a nuclear localization sequence (NLS) and a DNA binding domain (DBD) consisting of 13 C2H2-type zinc fingers. Studies in mouse embryonic and adult hematopoietic stem cells showed that this gene was required as a transcriptional regulator for self-renewal of both stem cell types, but it was dispensable for growth and differentiation of their progeny. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2010]

Clinical significance

The gene is associated with X-linked neurodevelopmental disorder, and is implicated in autism spectrum disorder.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000005889 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000079509 – 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: ZFX zinc finger protein, X-linked".
↑ Shepherdson, James L.; et al. (7 March 2024). "Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt". The American Journal of Human Genetics. 111 (3): 487–508. doi:10.1016/j.ajhg.2024.01.007. PMC 10940019. PMID 38325380.
↑ Andersen, Rebecca E.; Talukdar, Maya; Sakamoto, Tyler; Exposito-Alonso, David; Song, Janet H. T.; Qian, Xuyu; Lee, Seungil; Murugan, Nila; Delgado, Ryan N.; Zhao, Sijing; Eichfeld, Gwenyth; Harms, Julia; Page, David C.; Walsh, Christopher A. (2026). "Transcriptomic convergence and the female protective effect in autism". Nature. doi:10.1038/s41586-026-11236-6. PMID 42983080.

North M, Sargent C, O'Brien J, et al. (1991). "Comparison of ZFY and ZFX gene structure and analysis of alternative 3' untranslated regions of ZFY". Nucleic Acids Res. 19 (10): 2579–86. doi:10.1093/nar/19.10.2579. PMC 328173. PMID 2041734.
Mardon G, Luoh SW, Simpson EM, et al. (1990). "Mouse Zfx protein is similar to Zfy-2: each contains an acidic activating domain and 13 zinc fingers". Mol. Cell. Biol. 10 (2): 681–8. doi:10.1128/mcb.10.2.681. PMC 360866. PMID 2105457.
Palmer MS, Berta P, Sinclair AH, et al. (1990). "Comparison of human ZFY and ZFX transcripts". Proc. Natl. Acad. Sci. U.S.A. 87 (5): 1681–5. Bibcode:1990PNAS...87.1681P. doi:10.1073/pnas.87.5.1681. PMC 53546. PMID 2308929.
Müller G, Schempp W (1989). "Mapping the human ZFX locus to Xp21.3 by in situ hybridization". Hum. Genet. 82 (1): 82–4. doi:10.1007/BF00288279. PMID 2497060. S2CID 27908892.
Schneider-Gädicke A, Beer-Romero P, Brown LG, et al. (1989). "ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escapes X inactivation". Cell. 57 (7): 1247–58. doi:10.1016/0092-8674(89)90061-5. PMID 2500252.
Schneider-Gädicke A, Beer-Romero P, Brown LG, et al. (1990). "Putative transcription activator with alternative isoforms encoded by human ZFX gene". Nature. 342 (6250): 708–11. doi:10.1038/342708a0. PMID 2512506. S2CID 4334544.
Taylor DM, Ray PF, Ao A, et al. (1998). "Paternal transcripts for glucose-6-phosphate dehydrogenase and adenosine deaminase are first detectable in the human preimplantation embryo at the three- to four-cell stage". Mol. Reprod. Dev. 48 (4): 442–8. doi:10.1002/(SICI)1098-2795(199712)48:4<442::AID-MRD4>3.0.CO;2-Q. PMID 9364438. S2CID 33046919.
Murphy WJ, Eizirik E, Johnson WE, et al. (2001). "Molecular phylogenetics and the origins of placental mammals". Nature. 409 (6820): 614–8. Bibcode:2001Natur.409..614M. doi:10.1038/35054550. PMID 11214319. S2CID 4373847.
Agate RJ, Choe M, Arnold AP (2004). "Sex differences in structure and expression of the sex chromosome genes CHD1Z and CHD1W in zebra finches". Mol. Biol. Evol. 21 (2): 384–96. doi:10.1093/molbev/msh027. PMID 14660691.
Poloumienko A (2004). "Cloning and comparative analysis of the bovine, porcine, and equine sex chromosome genes ZFX and ZFY". Genome. 47 (1): 74–83. doi:10.1139/g03-099. PMID 15060604.
Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.

This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by adding missing information.

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

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000005889 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000079509 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: ZFX zinc finger protein, X-linked".

[6] Shepherdson, James L.; et al. (7 March 2024). "Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt". The American Journal of Human Genetics. 111 (3): 487–508. doi:10.1016/j.ajhg.2024.01.007. PMC 10940019. PMID 38325380.

[7] Andersen, Rebecca E.; Talukdar, Maya; Sakamoto, Tyler; Exposito-Alonso, David; Song, Janet H. T.; Qian, Xuyu; Lee, Seungil; Murugan, Nila; Delgado, Ryan N.; Zhao, Sijing; Eichfeld, Gwenyth; Harms, Julia; Page, David C.; Walsh, Christopher A. (2026). "Transcriptomic convergence and the female protective effect in autism". Nature. doi:10.1038/s41586-026-11236-6. PMID 42983080.

ZFX

Function

Clinical significance

See also

References

Further reading