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    SPIN2B spindlin family member 2B [ Homo sapiens (human) ]

    Gene ID: 474343, updated on 2-May-2024

    Summary

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    Official Symbol
    SPIN2Bprovided by HGNC
    Official Full Name
    spindlin family member 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:33147
    See related
    Ensembl:ENSG00000186787 MIM:300517; AllianceGenome:HGNC:33147
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPIN-2; TDRD26; SPIN-2B; dJ323P24.2; SPIN2_duplicate
    Summary
    Enables methylated histone binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in prostate (RPKM 2.6), brain (RPKM 2.6) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    Xp11.21
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (57119682..57121548, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (56418555..56420421, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (57146115..57147981, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29701 Neighboring gene spindlin family member 3 Neighboring gene SPIN2 family pseudogene 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:57143727-57144926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20870 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:57168413-57168642 Neighboring gene fatty acid amide hydrolase 2 Neighboring gene spindlin family member 2A Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:57203412-57203990 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 11 pseudogene 2

    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. Functional cloning of SPIN-2, a nuclear anti-apoptotic protein with roles in cell cycle progression. Fletcher BS, et al. Leukemia, 2002 Aug. PMID 12145692
    2. Blocking the Wnt pathway, a unifying mechanism for an angiogenic inhibitor in the serine proteinase inhibitor family. Zhang B, et al. Proc Natl Acad Sci U S A, 2010 Apr 13. PMID 20351274, Free PMC Article
    3. A transcriptional coregulator, SPIN·DOC, attenuates the coactivator activity of Spindlin1. Bae N, et al. J Biol Chem, 2017 Dec 22. PMID 29061846, Free PMC Article
    4. Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities. Miyake N, et al. Am J Hum Genet, 2020 Jan 2. PMID 31839203, Free PMC Article
    5. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. Adams MD, et al. Nature, 1995 Sep 28. PMID 7566098

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SERPINA3K is a high-affinity, endogenous antagonist of LRP6
      Title: Blocking the Wnt pathway, a unifying mechanism for an angiogenic inhibitor in the serine proteinase inhibitor family.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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

    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 methylated histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables methylated histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gamete generation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    spindlin-2B
    Names
    spindlin family, member 2 duplicate
    spindlin-like protein 2B
    telomeric SPIN2 copy

    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_001006681.2 → NP_001006682.1  spindlin-2B isoform 1

      See identical proteins and their annotated locations for NP_001006682.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AL022157, BC071974, BQ221120
      Consensus CDS
      CCDS35311.1
      UniProtKB/Swiss-Prot
      Q7Z2M0, Q9BPZ2
      UniProtKB/TrEMBL
      Q5JZB8
      Related
      ENSP00000404314.2, ENST00000434397.3
      Conserved Domains (1) summary
      pfam02513
      Location:50 → 98
      Spin-Ssty; Spin/Ssty Family

    2. NM_001006682.2 → NP_001006683.1  spindlin-2B isoform 1

      See identical proteins and their annotated locations for NP_001006683.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate internal segment in the 5' UTR, as compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AL022157, BC000044, BQ221120
      Consensus CDS
      CCDS35311.1
      UniProtKB/Swiss-Prot
      Q7Z2M0, Q9BPZ2
      UniProtKB/TrEMBL
      Q5JZB8
      Related
      ENSP00000275988.5, ENST00000275988.5
      Conserved Domains (1) summary
      pfam02513
      Location:50 → 98
      Spin-Ssty; Spin/Ssty Family

    3. NM_001006683.2 → NP_001006684.1  spindlin-2B isoform 1

      See identical proteins and their annotated locations for NP_001006684.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an internal segment in the 5' UTR, as compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AF356353, AL022157, BQ221120
      Consensus CDS
      CCDS35311.1
      UniProtKB/Swiss-Prot
      Q7Z2M0, Q9BPZ2
      UniProtKB/TrEMBL
      Q5JZB8
      Conserved Domains (1) summary
      pfam02513
      Location:50 → 98
      Spin-Ssty; Spin/Ssty Family

    4. NM_001282461.2 → NP_001269390.1  spindlin-2B isoform 2

      See identical proteins and their annotated locations for NP_001269390.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks a segment in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 4 and 5 encode the same isoform (2).
      Source sequence(s)
      AA319190, AL022157
      Consensus CDS
      CCDS65274.1
      UniProtKB/TrEMBL
      Q5JZB7
      Related
      ENSP00000364045.3, ENST00000374910.3
      Conserved Domains (1) summary
      pfam02513
      Location:109 → 153
      Spin-Ssty; Spin/Ssty Family

    5. NM_001282462.2 → NP_001269391.1  spindlin-2B isoform 2

      See identical proteins and their annotated locations for NP_001269391.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and lacks a segment in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 4 and 5 encode the same isoform (2).
      Source sequence(s)
      AL022157, BX953266
      Consensus CDS
      CCDS65274.1
      UniProtKB/TrEMBL
      Q5JZB7
      Conserved Domains (1) summary
      pfam02513
      Location:109 → 153
      Spin-Ssty; Spin/Ssty Family

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      57119682..57121548 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442139.1 → XP_047298095.1  spindlin-2B isoform X5

      UniProtKB/TrEMBL
      Q5JZB7

    2. XM_011530788.4 → XP_011529090.1  spindlin-2B isoform X3

      See identical proteins and their annotated locations for XP_011529090.1

      UniProtKB/Swiss-Prot
      Q7Z2M0, Q9BPZ2
      UniProtKB/TrEMBL
      Q5JZB8
      Conserved Domains (1) summary
      pfam02513
      Location:50 → 98
      Spin-Ssty; Spin/Ssty Family

    3. XM_017029552.3 → XP_016885041.1  spindlin-2B isoform X3

      UniProtKB/Swiss-Prot
      Q7Z2M0, Q9BPZ2
      UniProtKB/TrEMBL
      Q5JZB8
      Conserved Domains (1) summary
      pfam02513
      Location:50 → 98
      Spin-Ssty; Spin/Ssty Family

    4. XM_005262010.3 → XP_005262067.1  spindlin-2B isoform X3

      See identical proteins and their annotated locations for XP_005262067.1

      UniProtKB/Swiss-Prot
      Q7Z2M0, Q9BPZ2
      UniProtKB/TrEMBL
      Q5JZB8
      Conserved Domains (1) summary
      pfam02513
      Location:50 → 98
      Spin-Ssty; Spin/Ssty Family

    5. XM_005262009.6 → XP_005262066.3  spindlin-2B isoform X2

    6. XM_005262008.6 → XP_005262065.3  spindlin-2B isoform X1

      UniProtKB/TrEMBL
      Q5JZB8
      Conserved Domains (1) summary
      pfam02513
      Location:96 → 144
      Spin-Ssty; Spin/Ssty Family

    7. XM_047442138.1 → XP_047298094.1  spindlin-2B isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      56418555..56420421 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327123.1 → XP_054183098.1  spindlin-2B isoform X2

    2. XM_054327125.1 → XP_054183100.1  spindlin-2B isoform X3

      UniProtKB/Swiss-Prot
      Q7Z2M0, Q9BPZ2

    3. XM_054327124.1 → XP_054183099.1  spindlin-2B isoform X3

      UniProtKB/Swiss-Prot
      Q7Z2M0, Q9BPZ2

    4. XM_054327128.1 → XP_054183103.1  spindlin-2B isoform X5

      UniProtKB/TrEMBL
      Q5JZB7

    5. XM_054327122.1 → XP_054183097.1  spindlin-2B isoform X1

    6. XM_054327126.1 → XP_054183101.1  spindlin-2B isoform X3

      UniProtKB/Swiss-Prot
      Q7Z2M0, Q9BPZ2

    7. XM_054327127.1 → XP_054183102.1  spindlin-2B isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BPZ2.1 GenPept UniProtKB/Swiss-Prot:Q9BPZ2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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