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    SPTB spectrin beta, erythrocytic [ Homo sapiens (human) ]

    Gene ID: 6710, updated on 3-Apr-2024

    Summary

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    Official Symbol
    SPTBprovided by HGNC
    Official Full Name
    spectrin beta, erythrocyticprovided by HGNC
    Primary source
    HGNC:HGNC:11274
    See related
    Ensembl:ENSG00000070182 MIM:182870; AllianceGenome:HGNC:11274
    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
    EL3; HS2; SPH2; HSPTB1
    Summary
    This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
    Expression
    Biased expression in bone marrow (RPKM 15.7), heart (RPKM 8.2) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    14q23.3
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (64746283..64879907, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (58954121..59087910, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (65213001..65346625, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5839 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:65039864-65040400 Neighboring gene protein phosphatase 1 regulatory subunit 36 Neighboring gene nucleoporin 50 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65099836-65100338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65142104-65142604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65142605-65143105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65146682-65147226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65169421-65169922 Neighboring gene NANOG hESC enhancer GRCh37_chr14:65175156-65175657 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65181995-65182914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65182915-65183832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65184752-65185669 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65194651-65195302 Neighboring gene pleckstrin homology and RhoGEF domain containing G3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65195956-65196607 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65202813-65203735 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65203736-65204657 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5841 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65233085-65234003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65241545-65242046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65242047-65242546 Neighboring gene microRNA 7855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65298097-65298596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65322751-65323318 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5843 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5844 Neighboring gene uncharacterized LOC105370534 Neighboring gene ribonuclease P RNA component H1, 2 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. [Analysis of the characteristics of SPTB gene variants among 16 children with Hereditary spherocytosis]. Ge Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2023 Mar 10. PMID 36854399
    2. [Genetic Analysis of a Chinese Pedigree with Hereditary Spherocytosis Caused by Copy Number Variation Deletion of SPTB Gene]. Chen XL, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2023 Feb. PMID 36765497
    3. Whole exome sequencing identifies a novel SPTB frameshift mutation causing hereditary spherocytosis in the Chinese population. Liu XD, et al. Ann Hematol, 2022 Oct. PMID 35726106
    4. A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of β-spectrin. Li S, et al. Ann Hematol, 2022 Apr. PMID 35099593
    5. The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing. Fan J, et al. J Hum Genet, 2021 Dec. PMID 34140613

    See all (129) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [Analysis of the characteristics of SPTB gene variants among 16 children with Hereditary spherocytosis].
      Title: [Analysis of the characteristics of SPTB gene variants among 16 children with Hereditary spherocytosis].
    2. [Genetic Analysis of a Chinese Pedigree with Hereditary Spherocytosis Caused by Copy Number Variation Deletion of SPTB Gene].
      Title: [Genetic Analysis of a Chinese Pedigree with Hereditary Spherocytosis Caused by Copy Number Variation Deletion of SPTB Gene].
    3. Whole exome sequencing identifies a novel SPTB frameshift mutation causing hereditary spherocytosis in the Chinese population.
      Title: Whole exome sequencing identifies a novel SPTB frameshift mutation causing hereditary spherocytosis in the Chinese population.
    4. The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing.
      Title: The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing.
    5. A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of beta-spectrin.
      Title: A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of β-spectrin.
    6. A novel SPTB frameshift deletion causing hereditary spherocytosis identified by next-generation sequencing in a Chinese family.
      Title: A novel SPTB frameshift deletion causing hereditary spherocytosis identified by next-generation sequencing in a Chinese family.
    7. A novel essential splice site variant in SPTB in a large hereditary spherocytosis family.
      Title: A novel essential splice site variant in SPTB in a large hereditary spherocytosis family.
    8. Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis.
      Title: Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis.
    9. SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant.
      Title: SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant.
    10. A clinical and experimental study of adult hereditary spherocytosis in the Chinese population.
      Title: A clinical and experimental study of adult hereditary spherocytosis in the Chinese population.
    Submit: New GeneRIF Correction See all GeneRIFs (43)

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Elliptocytosis 3
    MedGen: C1866810 OMIM: 617948 GeneReviews: Not available
    		Compare labs
    Hereditary spherocytosis type 2
    MedGen: C2674219 OMIM: 616649 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol A number of focal adhesion plaque proteins are specifically cleaved by HIV-1 protease, including fimbrin, focal adhesion plaque kinase (FAK), talin, and, to a lesser extent, filamin, spectrin and fibronectin PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ankyrin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in actin filament capping IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in modification of postsynaptic actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in modification of postsynaptic actin cytoskeleton IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in actin cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cell projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cortical actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic side of plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of spectrin IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in spectrin-associated cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    spectrin beta chain, erythrocytic
    Names
    Sp beta
    beta-I spectrin
    erythrocytic spectrin beta chain
    membrane cytoskeletal protein
    spectrin beta Tandil
    spectrin beta chain, erythrocyte

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_016202.2 RefSeqGene

      Range
      4986..138610
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1130

    mRNA and Protein(s)

    1. NM_001024858.4 → NP_001020029.1  spectrin beta chain, erythrocytic isoform a

      See identical proteins and their annotated locations for NP_001020029.1

      Status: REVIEWED

      Source sequence(s)
      AB209415, AK094815, AL121774, BC010434, BX248270, CN370674, M37884
      UniProtKB/TrEMBL
      Q59FP5
      Related
      ENSP00000374372.3, ENST00000389722.7
      Conserved Domains (5) summary
      smart00150
      Location:1385 → 1475
      SPEC; Spectrin repeats
      COG5069
      Location:48 → 438
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:530 → 742
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd10571
      Location:2181 → 2286
      PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
      pfam00435
      Location:422 → 525
      Spectrin; Spectrin repeat

    2. NM_001355436.2 → NP_001342365.1  spectrin beta chain, erythrocytic isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL121774, AL135745
      Consensus CDS
      CCDS32099.1
      UniProtKB/TrEMBL
      Q59FP5
      Related
      ENSP00000495909.1, ENST00000644917.1
      Conserved Domains (5) summary
      smart00150
      Location:1385 → 1475
      SPEC; Spectrin repeats
      COG5069
      Location:48 → 438
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:530 → 742
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd10571
      Location:2181 → 2286
      PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
      pfam00435
      Location:422 → 525
      Spectrin; Spectrin repeat

    3. NM_001355437.2 → NP_001342366.1  spectrin beta chain, erythrocytic isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and 3' coding region compared to variant 1. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a. This variant is also referred to as muscle beta spectrin.
      Source sequence(s)
      AL121774, AL135745
      Consensus CDS
      CCDS32100.1
      UniProtKB/Swiss-Prot
      P11277, Q15510, Q15519
      UniProtKB/TrEMBL
      B2RMN7
      Related
      ENSP00000374370.4, ENST00000389720.4
      Conserved Domains (4) summary
      smart00150
      Location:1385 → 1475
      SPEC; Spectrin repeats
      COG5069
      Location:48 → 438
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:530 → 742
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00435
      Location:422 → 525
      Spectrin; Spectrin repeat

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      64746283..64879907 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021612.3 → XP_016877101.1  spectrin beta chain, erythrocytic isoform X1

      UniProtKB/TrEMBL
      Q59FP5
      Conserved Domains (5) summary
      smart00150
      Location:1385 → 1475
      SPEC; Spectrin repeats
      COG5069
      Location:48 → 438
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:530 → 742
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd10571
      Location:2181 → 2286
      PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
      pfam00435
      Location:422 → 525
      Spectrin; Spectrin repeat

    2. XM_047431724.1 → XP_047287680.1  spectrin beta chain, erythrocytic isoform X1

    3. XM_024449699.2 → XP_024305467.1  spectrin beta chain, erythrocytic isoform X1

      UniProtKB/TrEMBL
      Q59FP5
      Conserved Domains (5) summary
      smart00150
      Location:1385 → 1475
      SPEC; Spectrin repeats
      COG5069
      Location:48 → 438
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:530 → 742
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd10571
      Location:2181 → 2286
      PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
      pfam00435
      Location:422 → 525
      Spectrin; Spectrin repeat

    4. XM_047431725.1 → XP_047287681.1  spectrin beta chain, erythrocytic isoform X1

    5. XM_011537105.4 → XP_011535407.1  spectrin beta chain, erythrocytic isoform X2

      Conserved Domains (4) summary
      smart00033
      Location:177 → 273
      CH; Calponin homology domain
      cd00014
      Location:55 → 158
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:530 → 742
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00435
      Location:422 → 525
      Spectrin; Spectrin repeat

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      58954121..59087910 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376644.1 → XP_054232619.1  spectrin beta chain, erythrocytic isoform X1

    2. XM_054376641.1 → XP_054232616.1  spectrin beta chain, erythrocytic isoform X1

    3. XM_054376643.1 → XP_054232618.1  spectrin beta chain, erythrocytic isoform X1

    4. XM_054376642.1 → XP_054232617.1  spectrin beta chain, erythrocytic isoform X1

    5. XM_054376645.1 → XP_054232620.1  spectrin beta chain, erythrocytic isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_000347.5: Suppressed sequence

      Description
      NM_000347.5: This RefSeq was removed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P11277.5 GenPept UniProtKB/Swiss-Prot:P11277

    Gene LinkOut

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