SCAMP2 secretory carrier membrane protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SCAMP2provided by HGNC
Official Full Name: secretory carrier membrane protein 2provided by HGNC
Primary source: HGNC:HGNC:10564
See related: Ensembl:ENSG00000140497 MIM:606912; AllianceGenome:HGNC:10564
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
Summary: This gene product belongs to the SCAMP family of proteins which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that the SCAMPs may function at the same site during vesicular transport rather than in separate pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Expression: Ubiquitous expression in colon (RPKM 41.0), small intestine (RPKM 37.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q24.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (74843730..74873365, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (72713576..72743194, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (75136071..75165706, complement)

Chromosome 15 - NC_000015.10 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?

SCAMP2/5 as diagnostic and prognostic markers for acute myeloid leukemia.
Title: SCAMP2/5 as diagnostic and prognostic markers for acute myeloid leukemia.
this finding that SCAMP2 interacts with and regulates the subcellular distribution of both DAT and SERT suggests that interaction with SCAMP2 may constitute an important mechanism for coordinating cell surface expression of monoamine transporters.
Title: Modulation of the dopamine transporter by interaction with Secretory Carrier Membrane Protein 2.
Observational study of gene-disease association. (HuGE Navigator)
Title: L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
SCAMP2 regulates NHE5 transit through recycling endosomes and promotes its surface targeting in an Arf6-dependent manner.
Title: Secretory Carrier Membrane Protein 2 Regulates Cell-surface Targeting of Brain-enriched Na+/H+ Exchanger NHE5.
The strong correlation between SCAMP2 E interactions with PIP2 and inhibition of exocytosis, particularly by SC2-R204A, led us to propose that SCAMP2 interaction with PIP2 within the membrane interface regulates fusion pore formation during exocytosis.
Title: Secretory carrier membrane protein SCAMP2 and phosphatidylinositol 4,5-bisphosphate interactions in the regulation of dense core vesicle exocytosis.
SCAMP2 plays an important role in the regulation of the subcellular distribution of SERT
Title: Subcellular redistribution of the serotonin transporter by secretory carrier membrane protein 2.

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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

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

STS-R33045 (e-PCR)
- UniSTS:67664

SHGC-149885 (e-PCR)
- UniSTS:177280

STS-W74766 (e-PCR)
- UniSTS:4088

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in post-Golgi vesicle-mediated transport	TAS Traceable Author Statement more info	PubMed
involved_in protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in recycling endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in recycling endosome membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in trans-Golgi network membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in trans-Golgi network membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: secretory carrier-associated membrane protein 2

Names: testis secretory sperm-binding protein Li 219p

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.

mRNA and Protein(s)

NM_001320778.2 → NP_001307707.1 secretory carrier-associated membrane protein 2 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC091230, AK291884, CD300387, R59393

UniProtKB/TrEMBL

Q6IBK3

Conserved Domains (1) summary

pfam04144
Location:160 → 336

SCAMP; SCAMP family
NM_005697.5 → NP_005688.2 secretory carrier-associated membrane protein 2 isoform 2

See identical proteins and their annotated locations for NP_005688.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks a exon in the central coding region compared to variant 1. The encoded isoform (2) is sorter than isoform 2.

Source sequence(s)

AC091230, BC004385, R59393

Consensus CDS

CCDS10271.1

UniProtKB/Swiss-Prot

B2RDF0, O15127, Q9BQE8

UniProtKB/TrEMBL

A0A140VK92, Q6IBK3

Related

ENSP00000268099.9, ENST00000268099.13

Conserved Domains (1) summary

pfam04144
Location:117 → 293

SCAMP; SCAMP family