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SCFD2 sec1 family domain containing 2 [ Homo sapiens (human) ]

Gene ID: 152579, updated on 4-Jun-2020

Summary

Official Symbol
SCFD2provided by HGNC
Official Full Name
sec1 family domain containing 2provided by HGNC
Primary source
HGNC:HGNC:30676
See related
Ensembl:ENSG00000184178
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
STXBP1L1
Expression
Ubiquitous expression in brain (RPKM 1.5), adrenal (RPKM 1.2) and 25 other tissues See more
Orthologs

Genomic context

See SCFD2 in Genome Data Viewer
Location:
4q12
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (52872630..53366106, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (53738797..54232242, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1618 Neighboring gene Sharpr-MPRA regulatory region 13979 Neighboring gene RAS like family 11 member B Neighboring gene uncharacterized LOC101928658 Neighboring gene VISTA enhancer hs1668 Neighboring gene VISTA enhancer hs1460 Neighboring gene RNA, U6 small nuclear 310, pseudogene Neighboring gene uncharacterized LOC105377654 Neighboring gene factor interacting with PAPOLA and CPSF1 Neighboring gene LNX1 antisense RNA 1 Neighboring gene ligand of numb-protein X 1

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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
NHGRI GWA Catalog
Genome-wide association study of smoking behaviours in patients with COPD.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21060, FLJ39514

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
syntaxin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vesicle docking involved in exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vesicle docking involved in exocytosis IEA
Inferred from Electronic Annotation
more info
 
vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
secretory granule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
sec1 family domain-containing protein 2
Names
syntaxin binding protein 1-like 1

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.

mRNA and Protein(s)

  1. NM_152540.4NP_689753.2  sec1 family domain-containing protein 2

    See identical proteins and their annotated locations for NP_689753.2

    Status: VALIDATED

    Source sequence(s)
    AY299407
    Consensus CDS
    CCDS33984.1
    UniProtKB/Swiss-Prot
    Q8WU76
    Related
    ENSP00000384182.3, ENST00000401642.8
    Conserved Domains (1) summary
    cl15415
    Location:572665
    Sec1; Sec1 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    52872630..53366106 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007787.2XP_016863276.1  sec1 family domain-containing protein 2 isoform X3

  2. XM_017007786.2XP_016863275.1  sec1 family domain-containing protein 2 isoform X1

  3. XM_011534376.3XP_011532678.1  sec1 family domain-containing protein 2 isoform X4

  4. XM_011534375.3XP_011532677.1  sec1 family domain-containing protein 2 isoform X2

  5. XM_011534378.3XP_011532680.1  sec1 family domain-containing protein 2 isoform X5

    Related
    ENSP00000478569.1, ENST00000611795.1

RNA

  1. XR_001741148.2 RNA Sequence

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