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SEPTIN6 septin 6 [ Homo sapiens (human) ]

Gene ID: 23157, updated on 10-Dec-2024

Summary

Official Symbol
SEPTIN6provided by HGNC
Official Full Name
septin 6provided by HGNC
Primary source
HGNC:HGNC:15848
See related
Ensembl:ENSG00000125354 MIM:300683; AllianceGenome:HGNC:15848
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
SEP2; SEPT2; SEPT6; Septin-6
Summary
This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis. One version of pediatric acute myeloid leukemia is the result of a reciprocal translocation between chromosomes 11 and X, with the breakpoint associated with the genes encoding the mixed-lineage leukemia and septin 2 proteins. This gene encodes four transcript variants encoding three distinct isoforms. An additional transcript variant has been identified, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]
Expression
Broad expression in lymph node (RPKM 36.8), adrenal (RPKM 23.4) and 23 other tissues See more
Orthologs
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Genomic context

See SEPTIN6 in Genome Data Viewer
Location:
Xq24
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (119615724..119693168, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (117993452..118071836, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (118749687..118827131, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:118708298-118708798 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:118708799-118709299 Neighboring gene ubiquitin conjugating enzyme E2 A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29882 Neighboring gene NFKB repressing factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29886 Neighboring gene microRNA 766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:118811626-118812126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29892 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29895 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29897 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:118902711-118903910 Neighboring gene sosondowah ankyrin repeat domain family member D Neighboring gene small nucleolar RNA, H/ACA box 69 Neighboring gene ribosomal protein L39

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA0128, MGC16619, MGC20339

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding TAS
Traceable Author Statement
more info
PubMed 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables molecular adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in cytoskeleton-dependent cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in mitotic cytokinesis TAS
Traceable Author Statement
more info
PubMed 
involved_in protein localization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in axon terminus IEA
Inferred from Electronic Annotation
more info
 
is_active_in cell division site IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cleavage furrow IEA
Inferred from Electronic Annotation
more info
 
located_in kinetochore IEA
Inferred from Electronic Annotation
more info
 
is_active_in microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in midbody IEA
Inferred from Electronic Annotation
more info
 
located_in septin collar IEA
Inferred from Electronic Annotation
more info
 
part_of septin complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of septin complex IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in septin ring IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in sperm annulus IDA
Inferred from Direct Assay
more info
PubMed 
located_in spindle IEA
Inferred from Electronic Annotation
more info
 
located_in synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 

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_012565.1 RefSeqGene

    Range
    5203..81426
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001410710.1NP_001397639.1  septin-6 isoform E

    Status: REVIEWED

    Source sequence(s)
    AC004913, AC005052, AL355348
    Consensus CDS
    CCDS94661.1
    UniProtKB/TrEMBL
    B1AMS2, Q6NT82
    Related
    ENSP00000346397.3, ENST00000354416.7
  2. NM_015129.6NP_055944.2  septin-6 isoform B

    See identical proteins and their annotated locations for NP_055944.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (II) encodes the longest isoform (B).
    Source sequence(s)
    AC004913, AC005052, AL355348
    Consensus CDS
    CCDS14584.1
    UniProtKB/Swiss-Prot
    Q14141, Q5JTK0, Q969W5, Q96A13, Q96GR1, Q96P86, Q96P87
    UniProtKB/TrEMBL
    Q6NT82
    Related
    ENSP00000341524.5, ENST00000343984.5
    Conserved Domains (1) summary
    cd01850
    Location:39307
    CDC_Septin; CDC/Septin GTPase family
  3. NM_145799.4NP_665798.1  septin-6 isoform A

    See identical proteins and their annotated locations for NP_665798.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (I) contains an additional segment in the 3' coding region, which leads to a frameshift and immediate translation termination, as compared to variant II. The resulting isoform (A) is truncated at the C-terminus, as compared to isoform B.
    Source sequence(s)
    AC004913, AY005981, AY034177
    Consensus CDS
    CCDS14585.1
    UniProtKB/TrEMBL
    Q541S4, Q6NT82
    Related
    ENSP00000378108.1, ENST00000394610.7
    Conserved Domains (1) summary
    cd01850
    Location:39307
    CDC_Septin; CDC/Septin GTPase family
  4. NM_145800.4NP_665799.1  septin-6 isoform A

    See identical proteins and their annotated locations for NP_665799.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (III) contains an alternate 3' sequence, as compared to variant II. The resulting isoform (A) is truncated at the C-terminus, as compared to isoform B.
    Source sequence(s)
    AC004913, AC005052, AL355348
    Consensus CDS
    CCDS14585.1
    UniProtKB/TrEMBL
    Q541S4, Q6NT82
    Related
    ENSP00000353278.7, ENST00000360156.11
    Conserved Domains (1) summary
    cd01850
    Location:39307
    CDC_Septin; CDC/Septin GTPase family
  5. NM_145802.4NP_665801.1  septin-6 isoform D

    See identical proteins and their annotated locations for NP_665801.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (V) contains an alternate 3' exon, as compared to variant II. It encodes isoform D, that is shorter and has a distinct C-terminus, as compared to isoform B.
    Source sequence(s)
    AC004913, AC005052, AL355348
    Consensus CDS
    CCDS14583.1
    UniProtKB/TrEMBL
    Q548C9, Q6NT82
    Related
    ENSP00000346169.4, ENST00000354228.8
    Conserved Domains (1) summary
    cd01850
    Location:39307
    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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    119615724..119693168 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531317.4XP_011529619.1  septin-6 isoform X1

    UniProtKB/TrEMBL
    Q6NT82
    Conserved Domains (2) summary
    cd01850
    Location:39307
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:21373
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
  2. XM_011531318.4XP_011529620.1  septin-6 isoform X3

    See identical proteins and their annotated locations for XP_011529620.1

    UniProtKB/TrEMBL
    Q6NT82
    Conserved Domains (1) summary
    cd01850
    Location:39307
    CDC_Septin; CDC/Septin GTPase family
  3. XM_005262400.5XP_005262457.1  septin-6 isoform X2

    See identical proteins and their annotated locations for XP_005262457.1

    UniProtKB/TrEMBL
    Q6NT82
    Conserved Domains (2) summary
    cd01850
    Location:39307
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:21373
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
  4. XM_047441938.1XP_047297894.1  septin-6 isoform X4

    Related
    ENSP00000435818.1, ENST00000460411.5

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791817.1 Reference GRCh38.p14 PATCHES

    Range
    66726..126670 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    117993452..118071836 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326727.1XP_054182702.1  septin-6 isoform X1

    UniProtKB/TrEMBL
    Q6NT82
  2. XM_054326730.1XP_054182705.1  septin-6 isoform X5

    UniProtKB/Swiss-Prot
    Q14141, Q5JTK0, Q969W5, Q96A13, Q96GR1, Q96P86, Q96P87
    UniProtKB/TrEMBL
    Q6NT82
  3. XM_054326729.1XP_054182704.1  septin-6 isoform X3

    UniProtKB/TrEMBL
    Q6NT82
  4. XM_054326728.1XP_054182703.1  septin-6 isoform X2

    UniProtKB/TrEMBL
    Q6NT82
  5. XM_054326731.1XP_054182706.1  septin-6 isoform X4