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

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 MIM:619794; AllianceGenome:HGNC:37203
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
Summary: Predicted to be involved in negative regulation of BMP signaling pathway. Predicted to act upstream of or within positive regulation of neuron differentiation. Predicted to be located in extracellular region and synapse. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Restricted expression toward brain (RPKM 1.2) See more
Orthologs: mouse all
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Genomic context

Location:: 2q34-q35

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (214411054..214578976)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (214895548..215063486)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (215275778..215443700)

Chromosome 2 - NC_000002.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Vwc2l is a novel secreted protein that promotes matrix mineralization by modulating Osterix expression likely through TGF-beta superfamily growth factor signaling pathway.
Title: Modulation of matrix mineralization by Vwc2-like protein and its novel splicing isoforms.
Observational study of gene-disease association. (HuGE Navigator)
Title: Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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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
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans. 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)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-148566 (e-PCR)
- UniSTS:176466

SHGC-112180 (e-PCR)
- UniSTS:168864

D2S107 (e-PCR)
- UniSTS:14284

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
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
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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

Names: VWC2-like protein; 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)

NM_001080500.4 → NP_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

A6NC69, B2RUW7, B2RUY7, B7X8X1

Related

ENSP00000308976.5, ENST00000312504.10

Conserved Domains (1) summary

cl17735
Location:116 → 171

VWC; von Willebrand factor type C domain
NM_001345929.2 → NP_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, E6Y2G6

Related

ENSP00000403779.1, ENST00000427124.1