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

Gene ID: 27286, updated on 20-Dec-2019

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
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

Genomic context

See SRPX2 in Genome Data Viewer
Location:
Xq22.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (100644199..100675788)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (99899163..99926296)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373298 Neighboring gene tetraspanin 6 Neighboring gene synaptotagmin like 4 Neighboring gene RAD21 homolog (S. pombe) pseudogene Neighboring gene peptidylprolyl isomerase A pseudogene 89

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Rolandic epilepsy with mental retardation 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
hepatocyte growth factor binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
cell motility IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell migration involved in sprouting angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of synapse assembly IDA
Inferred from Direct Assay
more info
PubMed 
regulation of phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
vocalization behavior IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
cell surface ISS
Inferred from Sequence or Structural Similarity
more info
 
collagen-containing extracellular matrix HDA PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
excitatory synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
synaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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)

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

  1. NG_021337.1 RefSeqGene

    Range
    5001..32134
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014467.3NP_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
    O60687
    Related
    ENSP00000362095.3, ENST00000373004.5
    Conserved Domains (3) summary
    cd00033
    Location:264319
    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:177259
    HYR; HYR domain
    pfam13778
    Location:334445
    DUF4174; Domain of unknown function (DUF4174)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    100644199..100675788
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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