PARVG parvin gamma [Homo sapiens (human)] - Gene

Summary

Official Symbol: PARVGprovided by HGNC
Official Full Name: parvin gammaprovided by HGNC
Primary source: HGNC:HGNC:14654
See related: Ensembl:ENSG00000138964 MIM:608122; AllianceGenome:HGNC:14654
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: Members of the parvin family, including PARVG, are actin-binding proteins associated with focal contacts.[supplied by OMIM, Aug 2004]
Expression: Broad expression in spleen (RPKM 17.3), bone marrow (RPKM 16.9) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.31

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (44172951..44208469)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (44656072..44691701)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (44568831..44604349)

Chromosome 22 - NC_000022.11 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 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?

Suggest role for PARVG gene polymorphisms in operational renal allograft tolerance.
Title: PARVG gene polymorphism and operational renal allograft tolerance.
Mammalian parvins are likely to have arisen late in evolution from gene duplication as they share a remarkably similar exon/intron organization.
Title: Genomic organization and expression profile of the parvin family of focal adhesion proteins in mice and humans.
INI1hSNF5 and PARVG do not seem to be the tumor suppressor genes involved in oligodendroglioma development and progression
Title: No evidence of INI1hSNF5 (SMARCB1) and PARVG point mutations in oligodendroglial neoplasms.
integrin-linked kinase-gamma-parvin complex is critically involved in the initial integrin signaling for leukocyte migration
Title: The gamma-parvin-integrin-linked kinase complex is critically involved in leukocyte-substrate interaction.

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Phenotypes

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G65453 (e-PCR)
- UniSTS:166546

D22S1552 (e-PCR)
- UniSTS:7866

RH91452 (e-PCR)
- UniSTS:89795

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell projection assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-matrix adhesion	TAS Traceable Author Statement more info	PubMed
involved_in establishment or maintenance of cell polarity regulating cell shape	IBA Inferred from Biological aspect of Ancestor more info
involved_in substrate adhesion-dependent cell spreading	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	TAS Traceable Author Statement more info	PubMed
is_active_in focal adhesion	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: gamma-parvin

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_001137605.3 → NP_001131077.1 gamma-parvin

See identical proteins and their annotated locations for NP_001131077.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein. This variant lacks full-length support and thus it has an inferred exon combination; the alternate 5' exon, which extends the gene range, is well-supported by partial transcript data.

Source sequence(s)

AF237772, AI075834, AL031595, BP299653

UniProtKB/Swiss-Prot

B4DDW5, E7EVM6, Q9BQX5, Q9HBI0, Q9NSG1

Related

ENSP00000391453.1, ENST00000422871.5

Conserved Domains (1) summary

pfam00307
Location:44 → 151

CH; Calponin homology (CH) domain
NM_022141.7 → NP_071424.1 gamma-parvin

See identical proteins and their annotated locations for NP_071424.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AI075834, AL031595, BC034406, DA673498

Consensus CDS

CCDS14057.1

UniProtKB/Swiss-Prot

B4DDW5, E7EVM6, Q9BQX5, Q9HBI0, Q9NSG1

Related

ENSP00000391583.2, ENST00000444313.8

Conserved Domains (1) summary

pfam00307
Location:44 → 151

CH; Calponin homology (CH) domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

44172951..44208469

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047441455.1 → XP_047297411.1 gamma-parvin isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

44656072..44691701

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054325818.1 → XP_054181793.1 gamma-parvin isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001137606.1: Suppressed sequence

Description

NM_001137606.1: This RefSeq was permanently suppressed because currently there is insufficient support for the full-length nature of this variant.
NM_001254741.1: Suppressed sequence

Description

NM_001254741.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein, and the 3' end represents retained intron.
NM_001254742.1: Suppressed sequence

Description

NM_001254742.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein, and the 3' end represents retained intron.
NM_001254743.1: Suppressed sequence

Description

NM_001254743.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein, and the 3' end represents retained intron.