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Aliases for SLC25A38 Gene

Aliases for SLC25A38 Gene

  • Solute Carrier Family 25 Member 38 2 3 5
  • Solute Carrier Family 25, Member 38 2
  • Appoptosin 3
  • SIDBA2 3

External Ids for SLC25A38 Gene

Previous GeneCards Identifiers for SLC25A38 Gene

  • GC03P039400
  • GC03P039433

Summaries for SLC25A38 Gene

Entrez Gene Summary for SLC25A38 Gene

  • This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia (anemia, sideroblastic, 2, pyridoxine-refractory). A related pseudogene is found on chromosome 1. [provided by RefSeq, Aug 2017]

GeneCards Summary for SLC25A38 Gene

SLC25A38 (Solute Carrier Family 25 Member 38) is a Protein Coding gene. Diseases associated with SLC25A38 include Anemia, Sideroblastic, 2, Pyridoxine-Refractory and Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia.

UniProtKB/Swiss-Prot for SLC25A38 Gene

  • Mitochondrial carrier required during erythropoiesis. Probably involved in the biosynthesis of heme, possibly by facilitating 5-aminolevulinate (ALA) production. May act by importing glycine into mitochondria or by exchanging glycine for ALA across the mitochondrial inner membrane.

Additional gene information for SLC25A38 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A38 Gene

Genomics for SLC25A38 Gene

GeneHancer (GH) Regulatory Elements for SLC25A38 Gene

Promoters and enhancers for SLC25A38 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I039382 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.5 458 2.7 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF207 LOC105377644 SLC25A38 RPSA GORASP1 SNORA62 XIRP1 GC03M039393
GH03I039413 Enhancer 0.7 ENCODE 10.2 +31.0 31044 1.1 HNRNPUL1 MEIS2 PKNOX1 SMAD1 CHD7 RELA CCNT2 POLR2B POLR2A NFATC1 RPSA GORASP1 SNORA62 SLC25A38 GC03P039422 LOC105377038
GH03I039361 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 3.4 -21.3 -21317 1.6 MAX BATF RELA GATA3 ZNF316 EGR1 POLR2A VEZF1 NR2F6 ETV6 RPSA HNRNPA1P21 CCR8 SNORA6 CX3CR1 XIRP1 SLC25A38 WDR48 EEF1A1P24 GC03P039372
GH03I039326 Enhancer 0.9 FANTOM5 ENCODE 3.6 -55.6 -55595 1.6 PKNOX1 EBF1 BATF RELA BCLAF1 IKZF2 RUNX3 ZNF687 NR2F1 JUNB CCR8 RPSA HNRNPA1P21 CSRNP1 SLC25A38 WDR48 ADAD1P1
GH03I039266 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 2 -115.0 -115033 3.4 KLF1 TEAD4 EBF1 ZNF507 FOSL1 ZNF766 POLR2A PRDM10 IKZF2 RUNX3 GORASP1 CSRNP1 XIRP1 CCR8 HNRNPA1P21 TTC21A RPSA WDR48 SLC25A38 CX3CR1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC25A38 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC25A38 gene promoter:

Genomic Locations for SLC25A38 Gene

Genomic Locations for SLC25A38 Gene
chr3:39,383,324-39,397,351
(GRCh38/hg38)
Size:
14,028 bases
Orientation:
Plus strand
chr3:39,424,815-39,438,842
(GRCh37/hg19)

Genomic View for SLC25A38 Gene

Genes around SLC25A38 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A38 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A38 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A38 Gene

Proteins for SLC25A38 Gene

  • Protein details for SLC25A38 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96DW6-S2538_HUMAN
    Recommended name:
    Solute carrier family 25 member 38
    Protein Accession:
    Q96DW6
    Secondary Accessions:
    • Q9NWX2

    Protein attributes for SLC25A38 Gene

    Size:
    304 amino acids
    Molecular mass:
    33566 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC25A38 Gene

Post-translational modifications for SLC25A38 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC25A38 Gene

No data available for DME Specific Peptides for SLC25A38 Gene

Domains & Families for SLC25A38 Gene

Gene Families for SLC25A38 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC25A38 Gene

Suggested Antigen Peptide Sequences for SLC25A38 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96DW6

UniProtKB/Swiss-Prot:

S2538_HUMAN :
  • Belongs to the mitochondrial carrier (TC 2.A.29) family. SLC25A38 subfamily.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family. SLC25A38 subfamily.
genes like me logo Genes that share domains with SLC25A38: view

Function for SLC25A38 Gene

Molecular function for SLC25A38 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial carrier required during erythropoiesis. Probably involved in the biosynthesis of heme, possibly by facilitating 5-aminolevulinate (ALA) production. May act by importing glycine into mitochondria or by exchanging glycine for ALA across the mitochondrial inner membrane.

Gene Ontology (GO) - Molecular Function for SLC25A38 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015187 glycine transmembrane transporter activity IBA --
genes like me logo Genes that share ontologies with SLC25A38: view
genes like me logo Genes that share phenotypes with SLC25A38: view

Human Phenotype Ontology for SLC25A38 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC25A38 Gene

MGI Knock Outs for SLC25A38:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC25A38

miRNA for SLC25A38 Gene

miRTarBase miRNAs that target SLC25A38

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for SLC25A38 Gene

Localization for SLC25A38 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A38 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC25A38 gene
Compartment Confidence
mitochondrion 4
cytoskeleton 2
peroxisome 2
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SLC25A38 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IBA --
genes like me logo Genes that share ontologies with SLC25A38: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC25A38 Gene

Pathways & Interactions for SLC25A38 Gene

SuperPathways for SLC25A38 Gene

No Data Available

Interacting Proteins for SLC25A38 Gene

Gene Ontology (GO) - Biological Process for SLC25A38 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006783 heme biosynthetic process TAS 19412178
GO:0006810 transport IEA --
GO:0006839 mitochondrial transport IBA --
GO:0030218 erythrocyte differentiation IMP 19412178
GO:0036233 glycine import IBA --
genes like me logo Genes that share ontologies with SLC25A38: view

No data available for Pathways by source and SIGNOR curated interactions for SLC25A38 Gene

Drugs & Compounds for SLC25A38 Gene

No Compound Related Data Available

Transcripts for SLC25A38 Gene

Unigene Clusters for SLC25A38 Gene

Solute carrier family 25, member 38:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A38 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7
SP1:
SP2: -
SP3: - -
SP4: - -
SP5: - - - - - -

Relevant External Links for SLC25A38 Gene

GeneLoc Exon Structure for
SLC25A38
ECgene alternative splicing isoforms for
SLC25A38

Expression for SLC25A38 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC25A38 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC25A38 Gene

This gene is overexpressed in Cerebrospinal fluid (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC25A38 Gene



Protein tissue co-expression partners for SLC25A38 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC25A38 Gene:

SLC25A38

SOURCE GeneReport for Unigene cluster for SLC25A38 Gene:

Hs.369615

mRNA Expression by UniProt/SwissProt for SLC25A38 Gene:

Q96DW6-S2538_HUMAN
Tissue specificity: Preferentially expressed in erythroid cells.

Evidence on tissue expression from TISSUES for SLC25A38 Gene

  • Skin(4.1)
  • Nervous system(4)
  • Bone marrow(2.3)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A38 Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
Regions:
Abdomen:
  • liver
General:
  • blood
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with SLC25A38: view

No data available for mRNA differential expression in normal tissues for SLC25A38 Gene

Orthologs for SLC25A38 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC25A38 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC25A38 33 34
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia SLC25A38 33 34
  • 88.52 (n)
cow
(Bos Taurus)
Mammalia SLC25A38 33 34
  • 86.73 (n)
mouse
(Mus musculus)
Mammalia Slc25a38 33 16 34
  • 83.66 (n)
rat
(Rattus norvegicus)
Mammalia Slc25a38 33
  • 81.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A38 34
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC25A38 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC25A38 33 34
  • 71.89 (n)
lizard
(Anolis carolinensis)
Reptilia SLC25A38 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc25a38 33
  • 67.14 (n)
zebrafish
(Danio rerio)
Actinopterygii slc25a38b 33 34
  • 63.29 (n)
slc25a38a 34
  • 60 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YDL119C 33
  • 45.7 (n)
-- 34
  • 31 (a)
OneToOne
HEM25 36
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E08911g 33
  • 45.44 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR383W 33
  • 45.41 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02973 33
  • 49.36 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC823.10c 33
  • 45.57 (n)
Species where no ortholog for SLC25A38 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC25A38 Gene

ENSEMBL:
Gene Tree for SLC25A38 (if available)
TreeFam:
Gene Tree for SLC25A38 (if available)

Paralogs for SLC25A38 Gene

(2) SIMAP similar genes for SLC25A38 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for SLC25A38 Gene

genes like me logo Genes that share paralogs with SLC25A38: view

No data available for Paralogs for SLC25A38 Gene

Variants for SLC25A38 Gene

Sequence variations from dbSNP and Humsavar for SLC25A38 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs113251543 uncertain-significance, Refractory anemia with ringed sideroblasts (clinical), Hereditary sideroblastic anemia 39,396,824(+) C/T 3_prime_UTR_variant
rs114422738 likely-benign, Hereditary sideroblastic anemia, Refractory anemia with ringed sideroblasts (clinical) 39,383,422(+) A/C 5_prime_UTR_variant, genic_upstream_transcript_variant
rs121918330 pathogenic, Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive 39,391,513(+) C/T coding_sequence_variant, stop_gained
rs121918331 pathogenic, Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, Anemia, sideroblastic, 2, pyridoxine-refractory (SIDBA2) [MIM:205950] 39,391,956(+) G/A/C coding_sequence_variant, missense_variant
rs121918332 pathogenic, Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive 39,394,574(+) A/T coding_sequence_variant, intron_variant, stop_gained

Variation tolerance for SLC25A38 Gene

Residual Variation Intolerance Score: 76.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.31; 41.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC25A38 Gene

Human Gene Mutation Database (HGMD)
SLC25A38
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A38

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SLC25A38 Gene

Disorders for SLC25A38 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SLC25A38 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
anemia, sideroblastic, 2, pyridoxine-refractory
  • sidba2
pyridoxine-refractory autosomal recessive sideroblastic anemia
  • sideroblastic anemia pyridoxine-refractory autosomal recessive
autosomal recessive sideroblastic anemia
  • congenital sideroblastic anemia
anemia, sideroblastic, 3, pyridoxine-refractory
  • sidba3
sideroblastic anemia
  • anemia sideroblastic
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S2538_HUMAN
  • Anemia, sideroblastic, 2, pyridoxine-refractory (SIDBA2) [MIM:205950]: A form of sideroblastic anemia not responsive to pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. {ECO:0000269 PubMed:19412178}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC25A38

genes like me logo Genes that share disorders with SLC25A38: view

No data available for Genatlas for SLC25A38 Gene

Publications for SLC25A38 Gene

  1. Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system. (PMID: 16949250) Haitina T … Fredriksson R (Genomics 2006) 2 3 4 58
  2. Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. (PMID: 19412178) Guernsey DL … Samuels ME (Nature genetics 2009) 3 4 58
  3. Appoptosin interacts with mitochondrial outer-membrane fusion proteins and regulates mitochondrial morphology. (PMID: 26813789) Zhang C … Zhang YW (Journal of cell science 2016) 3 58
  4. Characterization of Human and Yeast Mitochondrial Glycine Carriers with Implications for Heme Biosynthesis and Anemia. (PMID: 27476175) Lunetti P … Capobianco L (The Journal of biological chemistry 2016) 3 58
  5. Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia. (PMID: 26821380) Fernández-Murray JP … McMaster CR (PLoS genetics 2016) 3 58

Products for SLC25A38 Gene

Sources for SLC25A38 Gene

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