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

Gene ID: 728661, updated on 27-Nov-2024

Summary

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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 located in membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in ovary (RPKM 17.6), endometrium (RPKM 17.1) and 25 other tissues See more
Orthologs
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Genomic context

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See SLC35E2B in Genome Data Viewer
Location:
1p36.33
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1661478..1692795, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (1095940..1127231, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1592939..1624234, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1568259-1569070 Neighboring gene matrix metallopeptidase 23B Neighboring gene cyclin dependent kinase 11B Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1590308-1591030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1601211-1601711 Neighboring gene ribosomal protein S7 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 31 Neighboring gene Sharpr-MPRA regulatory region 10763 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:1618619-1618776 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1619919-1620419 Neighboring gene Sharpr-MPRA regulatory region 15043 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 88 Neighboring gene matrix metallopeptidase 23A (pseudogene) Neighboring gene cyclin dependent kinase 11A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 32

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe. Swierkowska J, et al. Adv Med Sci, 2021 Mar. PMID 33711669
  2. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. Seki N, et al. DNA Res, 1997 Oct 31. PMID 9455484
  3. N(6)-Methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation. Cheng Y, et al. Cancer Cell, 2021 Jul 12. PMID 34048709, Free PMC Article
  4. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
  5. A dual-activity topoisomerase complex regulates mRNA translation and turnover. Su S, et al. Nucleic Acids Res, 2022 Jul 8. PMID 35748872, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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

Homology

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.

Genomic

  1. NG_034044.1 RefSeqGene

    Range
    5010..36327
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001110781.3 → NP_001104251.1  solute carrier family 35 member E2B

    See identical proteins and their annotated locations for NP_001104251.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants encode the same protein.
    Source sequence(s)
    AK125619, BQ446951, DA794179, DB450858, FO704657
    Consensus CDS
    CCDS44041.1
    UniProtKB/Swiss-Prot
    B3KWR0, O75035, P0CK96, Q2TAY8, Q569F8, Q5CZA4, Q9Y3J8
    Related
    ENSP00000484635.1, ENST00000611123.1
    Conserved Domains (1) summary
    pfam03151
    Location:73 → 368
    TPT; Triose-phosphate Transporter family

  2. NM_001290264.2 → NP_001277193.1  solute carrier family 35 member E2B

    See identical proteins and their annotated locations for NP_001277193.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AK125619, BG328537, BQ446951, CR936618, DA794179, DB450858, FO704657
    Consensus CDS
    CCDS44041.1
    UniProtKB/Swiss-Prot
    B3KWR0, O75035, P0CK96, Q2TAY8, Q569F8, Q5CZA4, Q9Y3J8
    Related
    ENSP00000481694.1, ENST00000617444.5
    Conserved Domains (1) summary
    pfam03151
    Location:73 → 368
    TPT; Triose-phosphate Transporter family

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

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    1661478..1692795 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    1095940..1127231 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0CK96.1 GenPept UniProtKB/Swiss-Prot:P0CK96

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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