SMPD4BP sphingomyelin phosphodiesterase 4B, pseudogene [Homo sapiens (human)] - Gene

Summary

Official Symbol: SMPD4BPprovided by HGNC
Official Full Name: sphingomyelin phosphodiesterase 4B, pseudogeneprovided by HGNC
Primary source: HGNC:HGNC:24761
See related: Ensembl:ENSG00000293311 AllianceGenome:HGNC:24761
Gene type: pseudo
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression: Ubiquitous expression in bone marrow (RPKM 21.0), testis (RPKM 12.4) and 25 other tissues See more
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Genomic context

Location:: 2q21.1

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (131492813..131521576)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (131927581..131956350)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (132250386..132279149)

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: 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?

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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

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

G62090 (e-PCR)
- UniSTS:139102

NoName (e-PCR)
- UniSTS:48762

A005N47 (e-PCR)
- UniSTS:71875

Other Names

neutral sphingomyelinase-3 pseudogene
sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) pseudogene

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.