Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	8406
Gene name	Sushi repeat containing protein X-linked
Gene symbol	SRPX
Synonyms (NCBI Gene)	DRSETX1HEL-S-83pSRPX1
Chromosome	X
Chromosome location	Xp11.4

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs756386867	C>G	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all (41)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030286	hsa-miR-26b-5p	Microarray	19088304
MIRT1389745	hsa-miR-129-5p	CLIP-seq
MIRT1389746	hsa-miR-130a	CLIP-seq
MIRT1389747	hsa-miR-130b	CLIP-seq
MIRT1389748	hsa-miR-186	CLIP-seq
MIRT1389749	hsa-miR-19a	CLIP-seq
MIRT1389750	hsa-miR-19b	CLIP-seq
MIRT1389751	hsa-miR-301a	CLIP-seq
MIRT1389752	hsa-miR-301b	CLIP-seq
MIRT1389753	hsa-miR-302a	CLIP-seq
MIRT1389754	hsa-miR-302b	CLIP-seq
MIRT1389755	hsa-miR-302c	CLIP-seq
MIRT1389756	hsa-miR-302d	CLIP-seq
MIRT1389757	hsa-miR-302e	CLIP-seq
MIRT1389758	hsa-miR-3133	CLIP-seq
MIRT1389759	hsa-miR-3134	CLIP-seq
MIRT1389760	hsa-miR-3666	CLIP-seq
MIRT1389761	hsa-miR-3691-3p	CLIP-seq
MIRT1389762	hsa-miR-372	CLIP-seq
MIRT1389763	hsa-miR-373	CLIP-seq
MIRT1389764	hsa-miR-4295	CLIP-seq
MIRT1389765	hsa-miR-4534	CLIP-seq
MIRT1389766	hsa-miR-454	CLIP-seq
MIRT1389767	hsa-miR-4735-5p	CLIP-seq
MIRT1389768	hsa-miR-4775	CLIP-seq
MIRT1389769	hsa-miR-494	CLIP-seq
MIRT1389770	hsa-miR-518a-5p	CLIP-seq
MIRT1389771	hsa-miR-519a	CLIP-seq
MIRT1389772	hsa-miR-519b-3p	CLIP-seq
MIRT1389773	hsa-miR-519c-3p	CLIP-seq
MIRT1389774	hsa-miR-520a-3p	CLIP-seq
MIRT1389775	hsa-miR-520b	CLIP-seq
MIRT1389776	hsa-miR-520c-3p	CLIP-seq
MIRT1389777	hsa-miR-520d-3p	CLIP-seq
MIRT1389778	hsa-miR-520e	CLIP-seq
MIRT1389779	hsa-miR-527	CLIP-seq
MIRT1389780	hsa-miR-590-3p	CLIP-seq
MIRT2632949	hsa-miR-3145-3p	CLIP-seq
MIRT2632950	hsa-miR-4477b	CLIP-seq
MIRT2632949	hsa-miR-3145-3p	CLIP-seq
MIRT2632950	hsa-miR-4477b	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
FOXP2	Activation	20858596
TWIST1	Repression	19051271
TWIST2	Repression	19051271

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001845	Process	Phagolysosome assembly	IBA
GO:0001845	Process	Phagolysosome assembly	IEA
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231
GO:0005515	Function	Protein binding	IPI	20406461
GO:0005776	Component	Autophagosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0006914	Process	Autophagy	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	TAS	8634708
GO:0031012	Component	Extracellular matrix	HDA	25037231
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0060244	Process	Negative regulation of cell proliferation involved in contact inhibition	IEA
GO:2001241	Process	Positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA

MIM	HGNC	e!Ensembl
300187	11309	ENSG00000101955

P78539

Protein name

Sushi repeat-containing protein SRPX

Protein function

May be involved in phagocytosis during disk shedding, cell adhesion to cells other than the pigment epithelium or signal transduction.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00084	Sushi	57 → 115	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	120 → 174	Sushi repeat (SCR repeat)	Domain
PF02494	HYR	175 → 257	HYR domain	Domain
PF00084	Sushi	262 → 317	Sushi repeat (SCR repeat)	Domain
PF13778	DUF4174	332 → 451	Domain of unknown function (DUF4174)	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in fibroblasts (at protein level) (PubMed:36213313). Retina and heart; less in placenta, pancreas, lung, liver, skeletal muscle, kidney and brain. {ECO:0000269|PubMed:36213313}.

Sequence

MGSPAHRPALLLLLPPLLLLLLLRVPPSRSFPGSGDSPLEDDEVGYSHPRYKDTPWCSPI
KVKYGDVYCRAPQGGYYKTALGTRCDIRCQKGYELHGSSLLICQSNKRWSDKVICKQKRC
PTLAMPANGGFKCVDGAYFNSRCEYYCSPGYTLKGERTVTCMDNKAWSGRPASCVDMEPP
RIKCPSVKERIAEPNKLTVRVSWETPEGRDTADGILTDVILKGLPPGSNFPEGDHKIQYT
VYDRAENKGTCKFRVKVRVKRCGKLNAPENGYMKCSSDGDNYGATCEFSCIGGYELQGSP
ARVCQSNLAWSGTEPTCAAMNVNVGVRTAAALLDQFYEKRRLLIVSTPTARNLLYRLQLG
MLQQAQCGLDLRHITVVELVGVFPTLIGRIGAKIMPPALALQLRLLLRIPLYSFSMVLVD
KHGMDKERYVSLVMPVALFNLIDTFPLRKEEMVLQAEMSQTCNT

Sequence length

464

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Short stature	Likely pathogenic	rs756386867	RCV000736241	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (44)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	LHGDN	12152160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	LHGDN	12716466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	24331455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	24331455		★★★★★ ★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	28478503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32311840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31638245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	12716466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	GWASDB_DG	21497890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	25310850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	25310850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	31415467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	19269948, 27917740, 28116342, 28243098, 28262089, 28275701, 28280733, 28903799, 29966197, 30032141, 30045679, 30200896, 30664239, 30782151, 31376870, 31535614, 31801901 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28116342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	24331455, 30072308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	28275701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34337010	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	19862339		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	19862339	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	BEFREE	11397871		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30990571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31638245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30917865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10861446, 12874760, 31638245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	24331455, 30072308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28262089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	30990571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	19690192	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	24190443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10490811, 12716466, 28184944, 28478503, 28797092, 30917865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	19424611		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	29704656		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31638245		★★★★★ ★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	28797092		★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	31376870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28116342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30917865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	12874760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30917865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	28478503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	28275701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	19424611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37270839	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SRPX (sushi repeat containing protein X-linked)