SVOP SV2 related protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: SVOPprovided by HGNC
Official Full Name: SV2 related proteinprovided by HGNC
Primary source: HGNC:HGNC:25417
See related: Ensembl:ENSG00000166111 MIM:611699; AllianceGenome:HGNC:25417
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SLC22B4
Summary: Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be located in synaptic vesicle. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in brain (RPKM 14.1) and adrenal (RPKM 0.9) See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.11

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (108907741..109021068, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (108882524..108995882, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (109301517..109458873, complement)

Chromosome 12 - NC_000012.12 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
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?

Submit: New GeneRIF Correction

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

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in xenobiotic transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in basal plasma membrane	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: synaptic vesicle 2-related protein

Names: SV2 related protein homolog; solute carrier family 22 member B4

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.