SRPX2 sushi repeat containing protein X-linked 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SRPX2provided by HGNC
Official Full Name: sushi repeat containing protein X-linked 2provided by HGNC
Primary source: HGNC:HGNC:30668
See related: Ensembl:ENSG00000102359 MIM:300642; AllianceGenome:HGNC:30668
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BPP; CBPS; PMGX; RESDX; SRPUL
Summary: This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also be involved in angiogenesis. Mutations in this gene are the cause of bilateral perisylvian polymicrogyria, rolandic epilepsy, speech dyspraxia and cognitive disability. [provided by RefSeq, May 2010]
Expression: Broad expression in urinary bladder (RPKM 13.2), placenta (RPKM 7.8) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq22.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (100644199..100675788)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (99086631..99118247)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (99899196..99930785)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SRPX2 promotes cancer cell proliferation and migration of papillary thyroid cancer.
Title: SRPX2 promotes cancer cell proliferation and migration of papillary thyroid cancer.
Local administration of liposomal-based Srpx2 gene therapy reverses pulmonary fibrosis by blockading fibroblast-to-myofibroblast transition.
Title: Local administration of liposomal-based Srpx2 gene therapy reverses pulmonary fibrosis by blockading fibroblast-to-myofibroblast transition.
SRPX2 promotes cell proliferation and invasion via activating FAK/SRC/ERK pathway in non-small cell lung cancer.
Title: SRPX2 promotes cell proliferation and invasion via activating FAK/SRC/ERK pathway in non-small cell lung cancer.
Sushi Repeat Containing Protein X-linked 2 Is a Downstream Signal of LEM Domain Containing 1 and Acts as a Tumor-Promoting Factor in Oral Squamous Cell Carcinoma.
Title: Sushi Repeat Containing Protein X-linked 2 Is a Downstream Signal of LEM Domain Containing 1 and Acts as a Tumor-Promoting Factor in Oral Squamous Cell Carcinoma.
This study suggests that SRPX2 promotes angiogenesis of HUVECs through the cooperation of the uPAR and integrin/FAK pathway.
Title: Sushi repeat-containing protein X-linked 2 promotes angiogenesis through the urokinase-type plasminogen activator receptor dependent integrin αvβ3/focal adhesion kinase pathways.
Knockdown of SRPX2 inhibits cell proliferation and metastasis, and promotes chemosensitivity in esophageal squamous cell carcinoma cells.
Title: SRPX2 knockdown inhibits cell proliferation and metastasis and promotes chemosensitivity in esophageal squamous cell carcinoma.
We explore the contribution of SRPX2 variants to clinical phenotype in our patients and conclude that these variants at least partially explain the phenotype. Further studies are necessary to establish and confirm the association between SRPX2 and neurodevelopment particularly speech and language development.
Title: Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?
SRPX2 potentially acts as an independent prognostic predictor and a drug-target for hepatocellular carcinoma patients.
Title: SRPX2, an independent prognostic marker, promotes cell migration and invasion in hepatocellular carcinoma.
Increased Sushi repeat-containing protein X-linked 2 is associated with progression of colorectal cancer.
Title: Increased Sushi repeat-containing protein X-linked 2 is associated with progression of colorectal cancer.
In rolandic epilepsy patients no major role was found for an association with SRPX2 or ELP4 genes.
Title: Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked MedGen: C1845070 OMIM: 300643 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-07-25) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-07-25) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS8103 (e-PCR), detects polymorphism
- UniSTS:35332

SHGC-78996 (e-PCR)
- UniSTS:101380

DXS7762 (e-PCR)
- UniSTS:60428

DXS9763 (e-PCR)
- UniSTS:16705

AL035142 (e-PCR)
- UniSTS:94653

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables hepatocyte growth factor binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell motility	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell migration involved in sprouting angiogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell migration involved in sprouting angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of synapse assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of synapse assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in vocalization behavior	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell surface	ISS Inferred from Sequence or Structural Similarity more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in excitatory synapse	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in synaptic membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: sushi repeat-containing protein SRPX2

Names: sushi-repeat protein up-regulated in leukemia; sushi-repeat protein upregulated in leukemia

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_021337.2 RefSeqGene

Range

5002..36591

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014467.3 → NP_055282.1 sushi repeat-containing protein SRPX2 precursor

See identical proteins and their annotated locations for NP_055282.1

Status: REVIEWED

Source sequence(s)

AL035608, AL390040

Consensus CDS

CCDS14471.1

UniProtKB/Swiss-Prot

B3KQT3, O60687, Q8WW85

Related

ENSP00000362095.3, ENST00000373004.5

Conserved Domains (3) summary

cd00033
Location:264 → 319

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

pfam02494
Location:177 → 259

HYR; HYR domain

pfam13778
Location:334 → 445

DUF4174; Domain of unknown function (DUF4174)