VSTM5 V-set and transmembrane domain containing 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: VSTM5provided by HGNC
Official Full Name: V-set and transmembrane domain containing 5provided by HGNC
Primary source: HGNC:HGNC:34443
See related: Ensembl:ENSG00000214376 AllianceGenome:HGNC:34443
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: C11orf90
Summary: Predicted to be involved in filopodium assembly; positive regulation of excitatory synapse assembly; and protein homooligomerization. Predicted to act upstream of or within ventral spinal cord development. Predicted to be located in axon; dendrite; and plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in placenta (RPKM 1.5), stomach (RPKM 0.6) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q21

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (93818232..93850618, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (93734553..93766945, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (93551398..93583784, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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)

General gene information

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Markers

D11S2057 (e-PCR)
- UniSTS:47629

RH65009 (e-PCR)
- UniSTS:87578

RH70426 (e-PCR)
- UniSTS:86073

SHGC-105037 (e-PCR)
- UniSTS:169096

D11S3233 (e-PCR)
- UniSTS:152478

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in filopodium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in filopodium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of excitatory synapse assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of excitatory synapse assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein homooligomerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventral spinal cord development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: V-set and transmembrane domain-containing protein 5

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_001144871.2 → NP_001138343.1 V-set and transmembrane domain-containing protein 5 precursor

See identical proteins and their annotated locations for NP_001138343.1

Status: VALIDATED

Source sequence(s)

AP001894

Consensus CDS

CCDS44709.1

UniProtKB/Swiss-Prot

A8MXK1

Related

ENSP00000386607.1, ENST00000409977.2

Conserved Domains (2) summary

smart00410
Location:42 → 138

IG_like; Immunoglobulin like

cl11960
Location:44 → 138

Ig; Immunoglobulin domain