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SMCO3 single-pass membrane protein with coiled-coil domains 3 [ Homo sapiens (human) ]

Gene ID: 440087, updated on 5-Mar-2024

Summary

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Official Symbol
SMCO3provided by HGNC
Official Full Name
single-pass membrane protein with coiled-coil domains 3provided by HGNC
Primary source
HGNC:HGNC:34401
See related
Ensembl:ENSG00000179256 AllianceGenome:HGNC:34401
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
C12orf69
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
12p12.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (14804650..14814182, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (14682015..14691547, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (14957584..14967116, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:14926759-14927676 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:14927677-14928593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4276 Neighboring gene H2A.J histone Neighboring gene WW domain binding protein 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6057 Neighboring gene chromosome 12 open reading frame 60 Neighboring gene ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6058 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:15033676-15034875 Neighboring gene matrix Gla protein

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. Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. Cousminer DL, et al. Hum Mol Genet, 2013 Jul 1. PMID 23449627, Free PMC Article
  2. Systematic Analysis of Human Protein Phosphatase Interactions and Dynamics. Yadav L, et al. Cell Syst, 2017 Apr 26. PMID 28330616
  3. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
  5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
single-pass membrane and coiled-coil domain-containing protein 3

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)

  1. NM_001013698.2 → NP_001013720.2  single-pass membrane and coiled-coil domain-containing protein 3

    See identical proteins and their annotated locations for NP_001013720.2

    Status: VALIDATED

    Source sequence(s)
    AK092637, BM696674, BU735185
    Consensus CDS
    CCDS41759.1
    UniProtKB/Swiss-Prot
    A2RU48, Q8NAI5
    Related
    ENSP00000381895.1, ENST00000316048.2
    Conserved Domains (1) summary
    pfam15047
    Location:15 → 220
    DUF4533; Protein of unknown function (DUF4533)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    14804650..14814182 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019312.2 → XP_016874801.1  single-pass membrane and coiled-coil domain-containing protein 3 isoform X1

    UniProtKB/Swiss-Prot
    A2RU48, Q8NAI5
    Conserved Domains (1) summary
    pfam15047
    Location:15 → 220
    DUF4533; Protein of unknown function (DUF4533)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    14682015..14691547 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372077.1 → XP_054228052.1  single-pass membrane and coiled-coil domain-containing protein 3 isoform X1

    UniProtKB/Swiss-Prot
    A2RU48, Q8NAI5
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A2RU48.1 GenPept UniProtKB/Swiss-Prot:A2RU48

Gene LinkOut

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