SLC35E2B solute carrier family 35 member E2B [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC35E2Bprovided by HGNC
Official Full Name: solute carrier family 35 member E2Bprovided by HGNC
Primary source: HGNC:HGNC:33941
See related: Ensembl:ENSG00000189339 MIM:619315; AllianceGenome:HGNC:33941
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: SLC35E2
Summary: Predicted to enable antiporter activity. Predicted to be involved in transmembrane transport. Predicted to act upstream of or within blastocyst hatching. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in ovary (RPKM 17.6), endometrium (RPKM 17.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.33

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (1661478..1692795, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (1095940..1127231, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (1592939..1624234, complement)

Chromosome 1 - NC_000001.11 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?

Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe.
Title: Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe.

Submit: New GeneRIF Correction

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

SHGC-74113 (e-PCR)
- UniSTS:2818

RH12898 (e-PCR)
- UniSTS:7725

sY3084 (e-PCR)
- UniSTS:515126

A002H48 (e-PCR)
- UniSTS:3714

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-74106 (e-PCR)
- UniSTS:2706

SHGC-74089 (e-PCR)
- UniSTS:27062

D1S1893E (e-PCR)
- UniSTS:35783

SLC35E2_3751 (e-PCR)
- UniSTS:462541

D1S2565 (e-PCR)
- UniSTS:71913

Clone Names

FLJ43631, KIAA0447, MGC104754, MGC117254, DKFZp564C093, DKFZp686M0869

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables antiporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in blastocyst hatching	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: solute carrier family 35 member E2B

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.