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VWC2L von Willebrand factor C domain containing 2 like [ Homo sapiens (human) ]

Gene ID: 402117, updated on 8-Jul-2021

Summary

Official Symbol
VWC2Lprovided by HGNC
Official Full Name
von Willebrand factor C domain containing 2 likeprovided by HGNC
Primary source
HGNC:HGNC:37203
See related
Ensembl:ENSG00000174453
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
Expression
Restricted expression toward brain (RPKM 1.2) See more
Orthologs
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Genomic context

See VWC2L in Genome Data Viewer
Location:
2q34-q35
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (214411054..214578976)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (215275778..215443700)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene sperm associated antigen 16 Neighboring gene uncharacterized LOC101928084 Neighboring gene ribosomal protein L5 pseudogene 8 Neighboring gene VWC2L intronic transcript 1 Neighboring gene endosulfine alpha pseudogene 3 Neighboring gene BRCA1 associated RING domain 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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of von Willebrand factor C domain containing protein 2-like (VWC2L; LOC402117) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 negative regulation of BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of AMPA glutamate receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
von Willebrand factor C domain-containing protein 2-like
Names
brorin-like
von Willebrand factor C domain containing protein 2 like

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)

  1. NM_001080500.4NP_001073969.1  von Willebrand factor C domain-containing protein 2-like isoform 1 precursor

    See identical proteins and their annotated locations for NP_001073969.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC068051, AC107218, BC146903
    Consensus CDS
    CCDS46509.1
    UniProtKB/Swiss-Prot
    B2RUY7
    Related
    ENSP00000308976.5, ENST00000312504.10
    Conserved Domains (1) summary
    cl17735
    Location:116171
    VWC; von Willebrand factor type C domain
  2. NM_001345929.2NP_001332858.1  von Willebrand factor C domain-containing protein 2-like isoform 2 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC068051, AC107218, BC171841
    Consensus CDS
    CCDS86917.1
    UniProtKB/TrEMBL
    B7ZW27
    Related
    ENSP00000403779.1, ENST00000427124.1

RNA

  1. NR_159945.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC068051, AC107218

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    214411054..214578976
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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