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STOM stomatin [ Homo sapiens (human) ]

Gene ID: 2040, updated on 10-Dec-2024

Summary

Official Symbol
STOMprovided by HGNC
Official Full Name
stomatinprovided by HGNC
Primary source
HGNC:HGNC:3383
See related
Ensembl:ENSG00000148175 MIM:133090; AllianceGenome:HGNC:3383
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BND7; EPB7; EPB72
Summary
This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Expression
Ubiquitous expression in fat (RPKM 161.3), bone marrow (RPKM 127.5) and 23 other tissues See more
Orthologs
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Genomic context

See STOM in Genome Data Viewer
Location:
9q33.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (121338987..121370250, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (133534978..133566240, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (124101265..124132528, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene gelsolin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28921 Neighboring gene ATPase H+ transporting V1 subunit B2 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124023585-124024084 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20233 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:124043752-124044951 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124047035-124047535 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:124048350-124049549 Neighboring gene Sharpr-MPRA regulatory region 178 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124056667-124057289 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124061747-124062407 Neighboring gene GSN antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124089303-124090216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28922 Neighboring gene uncharacterized LOC102723324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124132533-124133493 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:124148517-124149463 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124215525-124216026 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124216027-124216526 Neighboring gene NANOG hESC enhancer GRCh37_chr9:124234601-124235163 Neighboring gene glycoprotein alpha-galactosyltransferase 1 (inactive) Neighboring gene Sharpr-MPRA regulatory region 3911 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20236 Neighboring gene RNA, 7SL, cytoplasmic 187, pseudogene Neighboring gene high mobility group box 1 pseudogene 37

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA polymerase binding PubMed 
enables identical protein binding PubMed 
enables ion channel inhibitor activity  
enables protein binding PubMed 
enables protein homodimerization activity  

General protein information

Preferred Names
stomatin
Names
erythrocyte band 7 integral membrane protein
erythrocyte membrane protein band 7.2 (stomatin)
erythrocyte surface protein band 7.2
protein 7.2b

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_001270526.2NP_001257455.1  stomatin isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses two alternate splice sites in the 3' coding region, which result in a frameshift, compared to variant 1. The encoded isoform (c) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AI224884, AL161784, BI553227, DC368197
    Conserved Domains (2) summary
    smart00244
    Location:52196
    PHB; prohibitin homologues
    cl19107
    Location:73196
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
  2. NM_001270527.2NP_001257456.1  stomatin isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences, compared to variant 1. These differences include use of alternate splice sites and lack of a 3' coding exon, which result in a frameshift. The encoded isoform (d) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AI224884, AL161784, BP208523, DC368197
    Consensus CDS
    CCDS75892.1
    UniProtKB/TrEMBL
    F8VSL7
    Related
    ENSP00000445764.2, ENST00000538954.5
    Conserved Domains (1) summary
    cl19107
    Location:73167
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
  3. NM_004099.6NP_004090.4  stomatin isoform a

    See identical proteins and their annotated locations for NP_004090.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AI224884, AL161784, DC368197, X60067
    Consensus CDS
    CCDS6830.1
    UniProtKB/Swiss-Prot
    B1AM77, P27105, Q14087, Q15609, Q5VX96, Q96FK4
    UniProtKB/TrEMBL
    B4DZK8
    Related
    ENSP00000286713.2, ENST00000286713.7
    Conserved Domains (1) summary
    cd03403
    Location:73274
    SPFH_stomatin; Stomatin, a subgroup of the stomatin-like proteins (slipins) family; belonging to the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
  4. NM_198194.3NP_937837.1  stomatin isoform b

    See identical proteins and their annotated locations for NP_937837.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks several alternate exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AI224884, AL161784, BG701899, DC368197
    Consensus CDS
    CCDS6831.1
    UniProtKB/Swiss-Prot
    P27105
    Related
    ENSP00000339607.2, ENST00000347359.3
    Conserved Domains (1) summary
    cl19107
    Location:55109
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

RNA

  1. NR_073037.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI224884, AK304449, AL161784, DC368197

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    121338987..121370250 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    133534978..133566240 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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