GeneBe

SEPTIN7

protein-coding

septin 7, the group of Septins

Gene summary

This gene encodes a protein that is highly similar to the CDC10 protein of Saccharomyces cerevisiae. The protein also shares similarity with Diff 6 of Drosophila and with H5 of mouse. Each of these similar proteins, including the yeast CDC10, contains a GTP-binding motif. The yeast CDC10 protein is a structural component of the 10 nm filament which lies inside the cytoplasmic membrane and is essential for cytokinesis. This human protein functions in gliomagenesis and in the suppression of glioma cell growth, and it is required for the association of centromere-associated protein E with the kinetochore. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified on chromosomes 5, 7, 9, 10, 11, 14, 17 and 19. [provided by RefSeq, Jul 2011]

Previous symbols:
  • CDC10
  • SEPT7

MANE transcript

NM_001788.6

Inheritance

—

ClinVar variants

U:43B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.04

Max pathogenic AF

—

Genomic locus

chr7:35,800,932-35,907,110

External References & Databases

Ensembl (ENSG00000122545)NCBI Gene (989)OMIM (603151)HGNC:1717GenCCUniProt (Q16181)AlphaFoldClinVar (SEPTIN7)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~106.2 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SEPTIN7 variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 35
not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001788.6. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
 1
missense
36
clinvar
 36
nonsense
1
clinvar
 1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
6
clinvar
 6
Total00430144
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 28 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_001788.6RefSeqNP_001779.314MANE Select
ENST00000350320.11EnsemblENSP00000344868.814MANE Select
NM_001011553.4RefSeqNP_001011553.214Standard
NM_001242956.1RefSeqNP_001229885.112Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Signal Transduction
  • MAPK6/MAPK4 signaling
  • MAPK family signaling cascades

Biological Process

  • spermatogenesis
  • regulation of embryonic cell shape
  • cell differentiation
  • protein heterooligomerization
  • cilium assembly

Molecular Function

  • GTPase activity
  • structural molecule activity
  • protein binding
  • GTP binding
  • protein-containing complex scaffold activity

Cellular Component

  • condensed chromosome kinetochore
  • stress fiber
  • nucleus
  • spindle
  • cytosol

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000399034
Coding exons
14
Length
104376
Individuals with no LoFs
0
Homozygous LoFs
0
Heterozygous LoFs
0
Defined
0
p
0.00
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense2.74942040.4600.000009902907
Missense (PolyPhen)1960.1040.31612869
Synonymous1.514964.50.7600.00000302706
Loss of Function4.46125.20.03970.00000121352

Population LoF Frequency

PopulationCAFp-valueStatus
African00.0absent
Latino/Admixed American00.0absent
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish00.0absent
European (Non-Finnish)00.0absent
South Asian00.0absent
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Required for normal progress through mitosis. Involved in cytokinesis. Required for normal association of CENPE with the kinetochore. Plays a role in ciliogenesis and collective cell movements. Forms a filamentous structure with SEPT12, SEPT6, SEPT2 and probably SEPT4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830). {ECO:0000269|PubMed:17803907, ECO:0000269|PubMed:18460473, ECO:0000305|PubMed:25588830}.;

Recessive Scores

pRec
0.261

Essentials

Essential (CRISPR2)
E
Indispensability pred.
E
Indispensability score
0.839

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumLowLow
Primary ImmunodeficiencyMediumLowMedium
CancerMediumMediumMedium
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