SEPTIN7P2 septin 7 pseudogene 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SEPTIN7P2provided by HGNC
Official Full Name: septin 7 pseudogene 2provided by HGNC
Primary source: HGNC:HGNC:32339
See related: Ensembl:ENSG00000291207 MIM:611563; AllianceGenome:HGNC:32339
Gene type: pseudo
RefSeq status: PROVISIONAL
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SEPT13; SEPT7B; SEPT7P2
Summary: Septins, such as SEPT13, are conserved GTP-binding proteins that function as dynamic, regulatable scaffolds for the recruitment of other proteins. They are involved in membrane dynamics, vesicle trafficking, apoptosis, and cytoskeleton remodeling, as well as infection, neurodegeneration, and neoplasia (Hall et al., 2005 [PubMed 15915442]).[supplied by OMIM, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 5.5), endometrium (RPKM 5.0) and 25 other tissues See more
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Genomic context

Location:: 7p12.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (45723787..45769018, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (45885521..45930765, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (45763386..45808617, complement)

Chromosome 7 - NC_000007.14 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: 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

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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 studies and variants in dbVar

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L18426 (e-PCR)
- UniSTS:34648

RH47788 (e-PCR)
- UniSTS:6263

SHGC-149993 (e-PCR)
- UniSTS:182418

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.