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    SEPTIN12 septin 12 [ Homo sapiens (human) ]

    Gene ID: 124404, updated on 2-Nov-2024

    Summary

    Official Symbol
    SEPTIN12provided by HGNC
    Official Full Name
    septin 12provided by HGNC
    Primary source
    HGNC:HGNC:26348
    See related
    Ensembl:ENSG00000140623 MIM:611562; AllianceGenome:HGNC:26348
    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
    SEPT12; SPGF10
    Summary
    This gene encodes a guanine-nucleotide binding protein and member of the septin family of cytoskeletal GTPases. Septins play important roles in cytokinesis, exocytosis, embryonic development, and membrane dynamics. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
    Expression
    Restricted expression toward testis (RPKM 30.1) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SEPTIN12 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (4777606..4791828, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (4807061..4821315, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (4827607..4838346, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and sterile alpha motif domain containing 3 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr16:4763641-4764282 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr16:4764283-4764922 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr16:4768049-4768651 and GRCh37_chr16:4768652-4769253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7163 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7164 Neighboring gene dynein axonemal assembly factor 8 Neighboring gene zinc finger protein 500 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10344 Neighboring gene small integral membrane protein 22 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:4852142-4852642 Neighboring gene Sharpr-MPRA regulatory region 4562 Neighboring gene rogdi atypical leucine zipper Neighboring gene glyoxylate reductase 1 homolog Neighboring gene uncharacterized LOC124903638

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Spermatogenic failure 10
    MedGen: C3553793 OMIM: 614822 GeneReviews: Not available
    Compare labs

    Interactions

    General gene information

    Clone Names

    • FLJ25410

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GDP binding  
    enables GTP binding PubMed 
    enables GTP binding  
    enables GTPase activity  
    enables identical protein binding PubMed 
    enables molecular adaptor activity  
    enables phosphatidylinositol binding  
    enables protein binding PubMed 
    enables protein homodimerization activity PubMed 
    enables protein homodimerization activity  
    Process Evidence Code Pubs
    involved_in cell differentiation  
    involved_in cytoskeleton-dependent cytokinesis  
    involved_in protein localization  
    involved_in spermatogenesis  
    Component Evidence Code Pubs
    is_active_in cell division site  
    located_in cleavage furrow  
    is_active_in microtubule cytoskeleton  
    located_in microtubule cytoskeleton  
    located_in midbody PubMed 
    located_in nucleus  
    located_in perinuclear region of cytoplasm PubMed 
    part_of septin complex  
    part_of septin complex PubMed 
    part_of septin complex  
    is_active_in septin ring  
    located_in sperm annulus PubMed 
    located_in spindle PubMed 
    located_in stress fiber  

    General protein information

    Preferred Names
    septin-12
    Names
    testicular tissue protein Li 168

    NCBI Reference Sequences (RefSeq)

    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_030315.1 RefSeqGene

      Range
      5177..15916
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001154458.3NP_001147930.1  septin-12 isoform 1

      See identical proteins and their annotated locations for NP_001147930.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AC020663, DQ456996, EF620906
      Consensus CDS
      CCDS53987.1
      UniProtKB/TrEMBL
      A0A140VJU2
      Related
      ENSP00000379922.4, ENST00000396693.9
      Conserved Domains (1) summary
      cd01850
      Location:46271
      CDC_Septin; CDC/Septin GTPase family
    2. NM_144605.5NP_653206.2  septin-12 isoform 2

      See identical proteins and their annotated locations for NP_653206.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the coding region compared to variant 1. The encoded isoform (2) is longer but has the identical N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC020663, EF620906
      Consensus CDS
      CCDS10522.1
      UniProtKB/Swiss-Prot
      Q0P6B0, Q1PBH0, Q8IYM1, Q96LL0
      Related
      ENSP00000268231.8, ENST00000268231.13
      Conserved Domains (1) summary
      cd01850
      Location:46317
      CDC_Septin; CDC/Septin GTPase family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      4777606..4791828 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022938.2XP_016878427.1  septin-12 isoform X1

    2. XM_024450155.2XP_024305923.1  septin-12 isoform X2

      UniProtKB/Swiss-Prot
      Q0P6B0, Q1PBH0, Q8IYM1, Q96LL0
      Conserved Domains (1) summary
      cd01850
      Location:46317
      CDC_Septin; CDC/Septin GTPase family
    3. XM_006720846.3XP_006720909.1  septin-12 isoform X2

      See identical proteins and their annotated locations for XP_006720909.1

      UniProtKB/Swiss-Prot
      Q0P6B0, Q1PBH0, Q8IYM1, Q96LL0
      Conserved Domains (1) summary
      cd01850
      Location:46317
      CDC_Septin; CDC/Septin GTPase family
    4. XM_011522379.4XP_011520681.1  septin-12 isoform X3

      Conserved Domains (1) summary
      cd01850
      Location:2253
      CDC_Septin; CDC/Septin GTPase family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      4807061..4821315 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379606.1XP_054235581.1  septin-12 isoform X1

    2. XM_054379607.1XP_054235582.1  septin-12 isoform X2

      UniProtKB/Swiss-Prot
      Q0P6B0, Q1PBH0, Q8IYM1, Q96LL0
    3. XM_054379608.1XP_054235583.1  septin-12 isoform X3

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