STOM - stomatin Gene

Also Known as BND7; EPB7; EPB72

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2040

About STOM

Cytogenetic location: 9q33.2 Genomic coordinates (GRCh38): 9:121,338,987-121,370,250 (from NCBI)

This gene has 3 transcripts (splice variants), 156 orthologues and 4 paralogues. Ubiquitous expression in fat (RPKM 161.3), bone marrow (RPKM 127.5) and 23 other tissues.

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]

STOM Products (4)

mRNA Protein Name
NM_001270526.2 NP_001257455.1 stomatin isoform c
NM_001270527.2 NP_001257456.1 stomatin isoform d
NM_004099.6 NP_004090.4 stomatin isoform a
NM_198194.3 NP_937837.1 stomatin isoform b
Molecular Function GO Annotation Evidence References Source
enables RNA polymerase binding IPI
IPI: Inferred from physical interaction
25262680 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
9642292 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
19696025 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoskeleton IDA
IDA: Inferred from direct assay
1547348 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
25262680 GOA
located in membrane raft IDA
IDA: Inferred from direct assay
12130500 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
25262680 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
1547348 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

STOM Protein Structure

Band_7

Band_7: SPFH domain / Band 7 family (55 - 227)

  • 0
  • 100
  • 200
  • 288 a.a.
Protein Preferred Names Protein Names

stomatin

  • erythrocyte band 7 integral membrane protein

STOM Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
STOM P27105 GRM2 Homo sapiens Q14416 32296183
Intra
STOM P27105 TTMP Homo sapiens Q5BVD1 32296183
Intra
STOM P27105 RTP2 Homo sapiens Q5QGT7 32296183
Intra
STOM P27105 SLC35B4 Homo sapiens Q969S0 32296183
Intra
STOM P27105 RPRM Homo sapiens Q9NS64 32296183
Intra
STOM P27105 ATP1B3 Homo sapiens P54709 32296183
Intra
STOM P27105 ORMDL1 Homo sapiens Q9P0S3 32296183
Intra
STOM P27105 TMEM109 Homo sapiens Q9BVC6 32296183
Intra
STOM P27105 CMTM5 Homo sapiens Q96DZ9-2 32296183
Intra
STOM P27105 CFHR5 Homo sapiens Q9BXR6 32296183
Intra
STOM P27105 TMEM254 Homo sapiens Q8TBM7 32296183
Intra
STOM P27105 AIG1 Homo sapiens Q9NVV5-2 32296183
Intra
STOM P27105 GIMAP1 Homo sapiens Q8WWP7 32296183
Intra
STOM P27105 KTN1 Homo sapiens Q86UP2-3 32296183
Intra
STOM P27105 CTXN3 Homo sapiens Q4LDR2 32296183
Intra
STOM P27105 STOML1 Homo sapiens Q9UBI4 19696025
Intra
STOM P27105 SLC4A1 Homo sapiens P02730 23219802
Intra
STOM P27105 SLC4A1 Homo sapiens P02730 23219802
Intra
STOM P27105 LNPEP Homo sapiens Q9UIQ6-2 32296183
Intra
STOM P27105 FAXDC2 Homo sapiens Q96IV6 32296183
Intra
STOM P27105 TSPO2 Homo sapiens Q5TGU0 32296183
Intra
STOM P27105 CNIH3 Homo sapiens Q8TBE1 32296183
Intra
STOM P27105 CLDN19 Homo sapiens Q8N6F1-2 32296183
Intra
STOM P27105 TMEM203 Homo sapiens Q969S6 32296183
Intra
STOM P27105 DAGLA Homo sapiens Q9Y4D2 32296183
Intra
STOM P27105 TMEM208 Homo sapiens Q9BTX3 32296183
Intra
STOM P27105 PTCH1 Homo sapiens Q13635-3 32296183
Intra
STOM P27105 SFXN5 Homo sapiens Q8TD22 32296183
Intra
STOM P27105 PEMT Homo sapiens Q9UBM1-2 32296183
Intra
STOM P27105 TMEM86B Homo sapiens Q8N661 32296183
Intra
STOM P27105 TMEM140 Homo sapiens Q9NV12 32296183
Intra
STOM P27105 PMP22 Homo sapiens Q01453 32296183
Intra
STOM P27105 TMEM60 Homo sapiens Q9H2L4 32296183
Intra
STOM P27105 SFT2D1 Homo sapiens Q8WV19 32296183
Intra
STOM P27105 TECR Homo sapiens Q9NZ01 32296183
Intra
STOM P27105 SFXN1 Homo sapiens Q9H9B4 32296183
Intra
STOM P27105 ATP6V0B Homo sapiens Q99437 32296183
Intra
STOM P27105 NKG7 Homo sapiens Q16617 32296183
Intra
STOM P27105 EMP1 Homo sapiens P54849 32296183
Intra
STOM P27105 BNIP1 Homo sapiens Q12981 32296183
Intra
STOM P27105 TMPO Homo sapiens P42167 32296183
Intra
STOM P27105 GIMAP5 Homo sapiens Q96F15 32296183
Intra
STOM P27105 BCL2L2 Homo sapiens Q92843 32296183
Intra
STOM P27105 ERG28 Homo sapiens Q9UKR5 32296183
Intra
STOM P27105 HMOX2 Homo sapiens P30519 32296183
Intra
STOM P27105 FUNDC2 Homo sapiens Q9BWH2 32296183
Intra
STOM P27105 ATP6V0C Homo sapiens P27449 32296183
Intra
STOM P27105 WFDC2 Homo sapiens Q14508 32296183
Intra
STOM P27105 TMEM98 Homo sapiens Q9Y2Y6 32296183
Intra
STOM P27105 DVL3 Homo sapiens Q92997 25416956
Intra
STOM P27105 DVL3 Homo sapiens Q92997 25416956
Intra
STOM P27105 DVL3 Homo sapiens Q92997 25416956
Intra
STOM P27105 SERP2 Homo sapiens Q8N6R1 32296183
Intra
STOM P27105 YIPF6 Homo sapiens Q96EC8 32296183
Intra
STOM P27105 TMEM14B Homo sapiens Q9NUH8 32296183
Intra
STOM P27105 SMCO4 Homo sapiens Q9NRQ5 32296183
Intra
STOM P27105 SELENOK Homo sapiens Q9Y6D0 32296183
Intra
STOM P27105 MMP14 Homo sapiens P50281 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant STOM Proteins

Cat. No. Product Name Accession Purity
HY-P77216 Stomatin/STOM Protein, Human (HEK293, Fc) P27105 (K55-G288) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Overhydrated Hereditary Stomatocytosis
  • Ohs

  • Potassium Sodium Disorder Of Erythrocyte

  • OHST

  • Stomatocytosis I

  • Potassium-Sodium Disorder Of Erythrocyte

  • Stomatocytosisiohst

  • Hereditary, Overhydrated, Cation-Leak Stomatocytosis

  • Overhydrated Cation Leak Stomatocytosis

  • Stomatocytosis, Overhydrated Hereditary

Cryohydrocytosis
  • CHC

  • Stomatocytosis, Cold-Sensitive

  • Hereditary Cryohydrocytosis With Normal Stomatin

  • Pseudohyperkalemia Cardiff

Hereditary Stomatocytosis
  • Hereditary Stomatocytic Disease

Barbiturate Dependence
Hemolytic Anemia
  • Anemia, Hemolytic

  • Anemia Hemolytic

  • Anaemia Due To Other Disorders Of Glutathione Metabolism

  • Chronic Non Spherocytic Anaemia

  • G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

  • Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

  • Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

  • Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

  • Favism Anaemia

  • Haemolytic Anaemia Due Tog6pd Deficiency

  • Favism

  • Pentose Phosphate Pathway Disorder Anaemia

  • Anaemia Due To Pentose Phosphate Pathway Defect

Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
  • Dehydrated Hereditary Stomatocytosis

  • Hereditary Xerocytosis

  • Xerocytosis, Hereditary

  • Pshk1

  • Pseudohyperkalemia Edinburgh

  • Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema

  • DHS1

  • Dhs

  • Hereditary Desiccytosis

  • Dehydrated Hereditary Stomatocytosis 1

  • Desiccytosis, Hereditary

  • Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak

  • Pseudohyperkalemia Familial 1, Due To Red Cell Leak

  • Desiccytosis Hereditary

  • Xerocytosis Hereditary

  • Familial Pseudohyperkalemia 1 Due To Red Cell Leak

  • Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema

  • Xerocytosis

Dystonia 9
  • DYT9

  • Choreoathetosis/Spasticity, Episodic

  • Episodic Choreoathetosis/Spasticity

  • Cse Choreoathetosis, Paroxysmal, With Episodic Ataxia

  • Choreoathetosis, Kinesigenic, With Episodic Ataxia And Spasticity

  • Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity

  • Cse

  • Dystonia-9

  • Kinesigenic Choreoathetosis With Episodic Ataxia And Spasticity

  • Paroxysmal Choreoathetosis With Episodic Ataxia

  • Dystonia, Type 9

Malaria
  • Malaria, Susceptibility To

  • Malaria, Resistance To

  • Malaria, Cerebral

  • Cerebral Malaria

  • Malaria, Severe, Susceptibility To

  • Malaria, Severe, Resistance To

  • Malaria, Cerebral, Susceptibility To

  • Induced Malaria

  • Malaria, Vivax, Protection Against

  • Malaria, Severe

  • Malaria, Cerebral, Reduced Risk Of

  • Malaria, Protection Against

  • Resistance To Malaria Due To G6pd Deficiency

  • Malaria Due To G6pd Deficiency

  • Malarial Encephalitis

  • CM

  • Malaria Cerebral

  • Susceptibility To Malaria

  • Acute Pernicious Fever

  • Aestivo-Autumnal Fever

  • Aestivo Autumnal Malaria

  • Chagres Fever

  • Continued Malaria Fever

  • Estivo-Autumnal Fever

  • Estivo-Autumnal Malaria

  • Estivo-Autumnal Malarial Fever

  • Falciparum Fever

  • Malignant Tertian Fever

  • Malignant Tertian Malaria

  • Pernicious Intermittent Fever

  • Pernicious Malaria

  • Quotidian Malaria

  • Subtertian Fever

  • Subtertian Malaria Fever

  • Subtertian Malignant Tertian Malaria

  • Tropical Malaria

  • Algid Malaria

  • Bilious Haemoglobinuric Fever

  • Black Water Fever

  • Blackwater Fever

  • Malarial Blackwater Fever

  • Severe Malarial Falciparum

  • West African Fever

  • Malarial Haematinuria

  • Haemoglobinuric Fever

  • Haemoglobinuric Malaria

  • Severe Plasmodium Falciparum Malaria

  • Malarial Haemoglobinuria

  • Malarial Haematuria

  • Falciparum Malaria [Malignant Tertian]

  • Malaria Tropica

  • Malarial Shock

  • Chagres Virus Disease

  • Malignant Malaria

  • Mtm - [Malignant Tertian Malaria]

  • Tm -[Malignant Tertian Malaria]

  • Panama Fever

  • St - [Subtertian Malaria]

  • Malarial Quotidian

  • Benign Tertian Malaria

  • Tertian Ague

  • Vivax Fever

  • Plasmodium Vivax Malaria Nos

  • Btm - [Benign Tertian Malaria]

  • Bt - [Benign Tertian Malaria]

  • Vivax Malaria

  • Benign Tertian Vivax Malaria

  • Tertian Malaria

  • Quartan Malaria

  • Quartan Ague

  • Quartan Fever

  • Plasmodium Malariae Malaria Nos

  • Quartan Malarial

  • Malaria By Plasmodium Malariae

  • Malariae Malaria

  • Ovale Tertian Malaria

  • Plasmodium Ovale Fever

  • Malaria Fever By Plasmodium Ovale

  • Ovale Malaria

  • Malaria By Plasmodium Ovale

  • Malarial Ovale

  • Marsh Fever

  • Remittent Congestive Fever

  • Coastal Fever

  • Remittent Gastric Fever

  • Miasmatic Fever

  • Congestive Remittent Fever

  • Intermittent Fever

  • Jungle Fever

  • Paludism

  • Cameroon Fever

  • Ague

  • Corsican Fever

  • Intermittent Bilious Fever

  • Disease Due To Plasmodiidae

  • Malarial Fever

  • Plasmodiosis

  • Remittent Fever

  • Roman Fever

  • Malaria Fever Nos

  • Malaria Nos

  • Paludal Fever

  • Clinically Diagnosed Malaria

  • Clinically Diagnosed Malaria Without Parasitological Confirmation

  • Congestive Fever

  • Malarial Cachexia

  • Marsh Cachexia

  • Paludal Cachexia

  • Recurrent Malaria

  • Remittent Malaria

Hereditary Elliptocytosis
  • Congenital Elliptocytosis

  • Ovalocytosis

  • Elliptocytosis, Hereditary

  • He

  • Elliptocytosis Hereditary

  • Congenital Ovalocytosis

  • Elliptocytosis

  • Hereditary Elliptocytosis With Infantile Poikilocytosis

  • Hereditary Ovalocytosis

  • Oval Erythrocytosis

  • He - [Hereditary Elliptocytosis]

  • Elliptocytosis Anaemia

Nephrotic Syndrome
  • Finnish Congenital Nephrotic Syndrome

  • Ns - [Nephrotic Syndrome]

  • Nephrosis Syndrome

  • Nephrosis Nos

  • Glomerular Lesion Nephrosis

Hereditary Spherocytosis
  • Congenital Spherocytic Hemolytic Anemia

  • Spherocytic Anemia

  • Congenital Spherocytosis

  • Spherocytosis, Type 1

  • Minkowski Chauffard Syndrome

  • Hs

  • Minkowski-Chauffard Disease

  • Minkowski-Chauffard Syndrome

  • Spherocytosis Hereditary

  • Spherocytosis, Hereditary

  • Anemia, Hereditary Spherocytic Hemolytic

3-Methylglutaconic Aciduria, Type Iii
  • Optic Atrophy

  • 3-Methylglutaconic Aciduria Type 3

  • Costeff Syndrome

  • Mga3

  • Costeff Optic Atrophy Syndrome

  • Optic Atrophy Plus Syndrome

  • Infantile Optic Atrophy With Chorea And Spastic Paraplegia

  • 3-Methylglutaconic Aciduria Type Iii

  • Autosomal Recessive Optic Atrophy Plus Syndrome

  • Autosomal Recessive Optic Atrophy Type 3

  • Opa3 Defect

  • MGCA3

  • Mga, Type Iii

  • Iraqi Jewish Optic Atrophy Plus

  • Mga Type Iii

  • Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

  • Iraqi-Jewish 'Optic Atrophy Plus'

  • Optic Atrophy 3, Autosomal Recessive

  • Opa3, Autosomal Recessive

  • Opa3-Related 3-Methylglutaconic Aciduria

  • Iraqi-Jewish Optic Atrophy Plus

  • Atrophy Of Optic Disc

  • 3-Alpha Methylglutaconic Aciduria Type Iii

  • Optic Atrophy 3

  • Optic Atrophy Infantile With Chorea And Spastic Paraplegia

  • Autosomal Recessive Opa3

  • Autosomal Recessive Optic Atrophy 3

  • 3-Methylglutaconic Aciduria 3

  • 3-Alpha-Methylglutaconic Aciduria Type 3

  • Optic Atrophy 3 Autosomal Recessive

  • Atrophy, Optic

  • Atrophy, Optic, Plus Syndrome

  • Optic Nerve Atrophy

  • Primary Optic Atrophy

  • Oa - [Optic Atrophy]

  • Second Cranial Nerve Atrophy

  • Second Cranium Nerve Atrophy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus STOM MGD MGI:95403
Bos taurus STOM VGNC VGNC:35409
Rattus norvegicus STOM RGD RGD:1305109
Canis familiaris STOM VGNC VGNC:46931
Felis catus STOM VGNC VGNC:65792
Macaca mulatta STOM VGNC VGNC:78258
Others STOM NCBI