U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

STUM stum, mechanosensory transduction mediator homolog [ Homo sapiens (human) ]

Gene ID: 375057, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
STUMprovided by HGNC
Official Full Name
stum, mechanosensory transduction mediator homologprovided by HGNC
Primary source
HGNC:HGNC:30491
See related
Ensembl:ENSG00000203685 AllianceGenome:HGNC:30491
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
C1orf95
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 14.0), esophagus (RPKM 3.3) and 11 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
1q42.12
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (226548764..226609230)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (225736874..225797353)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (226736465..226796931)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373115 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:226707962-226708656 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:226708657-226709349 Neighboring gene uncharacterized LOC105373116 Neighboring gene Sharpr-MPRA regulatory region 7345 Neighboring gene Sharpr-MPRA regulatory region 13952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226755704-226756204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226784052-226784579 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226785107-226785634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226789667-226790203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226790204-226790739 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226791949-226792628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226792629-226793308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2654 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226822865-226823648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226830147-226830814 Neighboring gene Sharpr-MPRA regulatory region 1086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2657 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226832149-226832814 Neighboring gene MPRA-validated peak735 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226834481-226835372 Neighboring gene Sharpr-MPRA regulatory region 9391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226841474-226842065 Neighboring gene inositol-trisphosphate 3-kinase B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226846645-226847475 Neighboring gene uncharacterized LOC124904529 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226850479-226851004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2661 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2662 Neighboring gene ITPKB intronic transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2664 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2665 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226872731-226873232 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226876299-226876798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1889 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:226896320-226896495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2667 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2669 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226905393-226905892 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226911101-226911856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226925617-226926116 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2670 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226942001-226942500 Neighboring gene ribosomal protein S27 pseudogene 5

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. The stum gene is essential for mechanical sensing in proprioceptive neurons. Desai BS, et al. Science, 2014 Mar 14. PMID 24626929
  2. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article
  3. A "double adaptor" method for improved shotgun library construction. Andersson B, et al. Anal Biochem, 1996 Apr 5. PMID 8619474
  4. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article
  5. From ORFeome to biology: a functional genomics pipeline. Wiemann S, et al. Genome Res, 2004 Oct. PMID 15489336, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • DKFZp761P211

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

Go to the top of the page Help
Preferred Names
protein stum homolog
Names
stumble homolog

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001003665.4 → NP_001003665.1  protein stum homolog isoform 1

    See identical proteins and their annotated locations for NP_001003665.1

    Status: VALIDATED

    Source sequence(s)
    AL134612, AL137507, AL357122, AL359704, AL365444
    Consensus CDS
    CCDS31044.1
    UniProtKB/Swiss-Prot
    A6NGL2, Q69YW2
    Related
    ENSP00000355752.3, ENST00000366788.8
    Conserved Domains (1) summary
    pfam15795
    Location:44 → 127
    Spec3; Ectodermal ciliogenesis protein

  2. NM_001410930.1 → NP_001397859.1  protein stum homolog isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL357122, AL359704, AL365444
    Consensus CDS
    CCDS91166.1
    UniProtKB/TrEMBL
    F8WD64
    Related
    ENSP00000355753.5, ENST00000366789.6

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    226548764..226609230
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    225736874..225797353
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q69YW2.1 GenPept UniProtKB/Swiss-Prot:Q69YW2

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous