2. Gene
  3. STOM - stomatin Gene

STOM - stomatin Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as BND7; EPB7; EPB72

Gene ID: 2040 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference
Intra
STOM P27105 GRM2 Homo sapiens Q14416
Validated Y2H
32296183
Intra
STOM P27105 TTMP Homo sapiens Q5BVD1
Validated Y2H
32296183
Intra
STOM P27105 RTP2 Homo sapiens Q5QGT7
Validated Y2H
32296183
Intra
STOM P27105 SLC35B4 Homo sapiens Q969S0
Validated Y2H
32296183
Intra
STOM P27105 RPRM Homo sapiens Q9NS64
Validated Y2H
32296183
Intra
STOM P27105 ATP1B3 Homo sapiens P54709
Validated Y2H
32296183
Intra
STOM P27105 ORMDL1 Homo sapiens Q9P0S3
Validated Y2H
32296183
Intra
STOM P27105 TMEM109 Homo sapiens Q9BVC6
Validated Y2H
32296183
Intra
STOM P27105 CMTM5 Homo sapiens Q96DZ9-2
Validated Y2H
32296183
Intra
STOM P27105 CFHR5 Homo sapiens Q9BXR6
Validated Y2H
32296183
Intra
STOM P27105 TMEM254 Homo sapiens Q8TBM7
Validated Y2H
32296183
Intra
STOM P27105 AIG1 Homo sapiens Q9NVV5-2
Validated Y2H
32296183
Intra
STOM P27105 GIMAP1 Homo sapiens Q8WWP7
Validated Y2H
32296183
Intra
STOM P27105 KTN1 Homo sapiens Q86UP2-3
Validated Y2H
32296183
Intra
STOM P27105 CTXN3 Homo sapiens Q4LDR2
Validated Y2H
32296183
Intra
STOM P27105 STOML1 Homo sapiens Q9UBI4
Anti Bait CoIP
19696025
Intra
STOM P27105 SLC4A1 Homo sapiens P02730
Anti Bait CoIP
23219802
Intra
STOM P27105 SLC4A1 Homo sapiens P02730
Crosslink
23219802
Intra
STOM P27105 LNPEP Homo sapiens Q9UIQ6-2
Validated Y2H
32296183
Intra
STOM P27105 FAXDC2 Homo sapiens Q96IV6
Validated Y2H
32296183
Intra
STOM P27105 TSPO2 Homo sapiens Q5TGU0
Validated Y2H
32296183
Intra
STOM P27105 CNIH3 Homo sapiens Q8TBE1
Validated Y2H
32296183
Intra
STOM P27105 CLDN19 Homo sapiens Q8N6F1-2
Validated Y2H
32296183
Intra
STOM P27105 TMEM203 Homo sapiens Q969S6
Validated Y2H
32296183
Intra
STOM P27105 DAGLA Homo sapiens Q9Y4D2
Validated Y2H
32296183
Intra
STOM P27105 TMEM208 Homo sapiens Q9BTX3
Validated Y2H
32296183
Intra
STOM P27105 PTCH1 Homo sapiens Q13635-3
Validated Y2H
32296183
Intra
STOM P27105 SFXN5 Homo sapiens Q8TD22
Validated Y2H
32296183
Intra
STOM P27105 PEMT Homo sapiens Q9UBM1-2
Validated Y2H
32296183
Intra
STOM P27105 TMEM86B Homo sapiens Q8N661
Validated Y2H
32296183
Intra
STOM P27105 TMEM140 Homo sapiens Q9NV12
Validated Y2H
32296183
Intra
STOM P27105 PMP22 Homo sapiens Q01453
Validated Y2H
32296183
Intra
STOM P27105 TMEM60 Homo sapiens Q9H2L4
Validated Y2H
32296183
Intra
STOM P27105 SFT2D1 Homo sapiens Q8WV19
Validated Y2H
32296183
Intra
STOM P27105 TECR Homo sapiens Q9NZ01
Validated Y2H
32296183
Intra
STOM P27105 SFXN1 Homo sapiens Q9H9B4
Validated Y2H
32296183
Intra
STOM P27105 ATP6V0B Homo sapiens Q99437
Validated Y2H
32296183
Intra
STOM P27105 NKG7 Homo sapiens Q16617
Validated Y2H
32296183
Intra
STOM P27105 EMP1 Homo sapiens P54849
Validated Y2H
32296183
Intra
STOM P27105 BNIP1 Homo sapiens Q12981
Validated Y2H
32296183
Intra
STOM P27105 TMPO Homo sapiens P42167
Validated Y2H
32296183
Intra
STOM P27105 GIMAP5 Homo sapiens Q96F15
Validated Y2H
32296183
Intra
STOM P27105 BCL2L2 Homo sapiens Q92843
Validated Y2H
32296183
Intra
STOM P27105 ERG28 Homo sapiens Q9UKR5
Validated Y2H
32296183
Intra
STOM P27105 HMOX2 Homo sapiens P30519
Validated Y2H
32296183
Intra
STOM P27105 FUNDC2 Homo sapiens Q9BWH2
Validated Y2H
32296183
Intra
STOM P27105 ATP6V0C Homo sapiens P27449
Validated Y2H
32296183
Intra
STOM P27105 WFDC2 Homo sapiens Q14508
Validated Y2H
32296183
Intra
STOM P27105 TMEM98 Homo sapiens Q9Y2Y6
Validated Y2H
32296183
Intra
STOM P27105 DVL3 Homo sapiens Q92997
Validated Y2H
25416956
Intra
STOM P27105 DVL3 Homo sapiens Q92997
Y2H Prey Pooling
25416956
Intra
STOM P27105 DVL3 Homo sapiens Q92997
Y2H Array
25416956
Intra
STOM P27105 SERP2 Homo sapiens Q8N6R1
Validated Y2H
32296183
Intra
STOM P27105 YIPF6 Homo sapiens Q96EC8
Validated Y2H
32296183
Intra
STOM P27105 TMEM14B Homo sapiens Q9NUH8
Validated Y2H
32296183
Intra
STOM P27105 SMCO4 Homo sapiens Q9NRQ5
Validated Y2H
32296183
Intra
STOM P27105 SELENOK Homo sapiens Q9Y6D0
Validated Y2H
32296183
Intra
STOM P27105 MMP14 Homo sapiens P50281
Validated Y2H
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%

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

Related Agents

Approval
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-17015A Peramivir 98.19% Unkown
Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS13949 STOM Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

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