SUGP2

SUGP2
Identifiers
Aliases	SUGP2, SFRS14, SURP and G-patch domain containing 2, SRFS14
External IDs	OMIM: 607993; MGI: 2678085; GeneCards: SUGP2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1X4P
Gene location (Human)
Chr.	Chromosome 19 (human)
End	19,034,023 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	70,279,915 bp
RNA expression pattern
	Top expressed in
	left testis; ; cerebellar hemisphere; ; right testis; ; right hemisphere of cerebellum; ; primary visual cortex; ; middle temporal gyrus; ; anterior pituitary; ; ventricular zone; ; right frontal lobe; ; left lobe of thyroid gland;
	Top expressed in
	spermatocyte; ; spermatid; ; seminiferous tubule; ; neural layer of retina; ; barrel cortex; ; superior cervical ganglion; ; Rostral migratory stream; ; external carotid artery; ; anterior amygdaloid area; ; ventromedial nucleus;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	nucleic acid binding; RNA binding;
Cellular component	nucleus; nucleoplasm; nuclear body;
Biological process	mRNA processing; RNA processing; RNA splicing;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	10147
	234373
	ENSG00000064607
	ENSMUSG00000036054
	Q8IX01
	Q8CH09
NM_001017392; NM_014884; NM_001321697; NM_001321698; NM_001321699;
	NM_001352071
	NM_001168290; NM_172755
NP_001017392; NP_001308626; NP_001308627; NP_001308628; NP_055699;
	NP_001339000
	NP_001161762; NP_766343
	Wikidata
View/Edit Human	View/Edit Mouse

SURP and G-patch domain-containing protein 2 is a protein that in humans is encoded by the SUGP2 gene (previously SFRS14). Mutation of this gene may cause non-HFE-related hereditary haemochromatosis.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000064607 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036054 – 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.
↑ Sampson ND, Hewitt JE (Feb 2003). "SF4 and SFRS14, two related putative splicing factors on human chromosome 19p13.11". Gene. 305 (1): 91–100. doi:10.1016/S0378-1119(02)01230-1. PMID 12594045.
↑ "Entrez Gene: SFRS14 splicing factor, arginine/serine-rich 14".
↑ Li Y, Xu A, Liu S, Zhang W, Zhou D, OuYang Q, Zi H, Zhang B, Zhang N, Geng W, Zhou Y, Duan W, Wang X, Zhao X, Ou X, Fan C, Jia J, Huang J (September 2024). "SUGP2 p.(Arg639Gln) variant is involved in the pathogenesis of hemochromatosis via the CIRBP/BMPER signaling pathway". American Journal of Hematology. 99 (9): 1691–1703. doi:10.1002/ajh.27377. PMID 38800953.
↑ Qiu H, Yuan M, Guo Z, Liang J, Li Y, Gao Y, He S, Ma X (2 December 2024). "Hereditary Hemochromatosis Caused by SUGP2 and DENND3 Mutation in China: A Case Report". Clinical Case Reports. 12 (12) e9592. doi:10.1002/ccr3.9592. PMC 11612258. PMID 39629038.

This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by adding missing information.