SEPTIN12

Last update 08 May 2025

Basic Info

Synonyms

FLJ25410, SEPT12, septin 12

+ [2]

Introduction

Filament-forming cytoskeletal GTPase (By similarity). Involved in spermatogenesis. Involved in the morphogenesis of sperm heads and the elongation of sperm tails probably implicating the association with alpha- and beta-tubulins (PubMed:24213608). Forms a filamentous structure with SEPTIN7, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830). May play a role in cytokinesis (Potential).

100 Clinical Results associated with SEPTIN12

100 Translational Medicine associated with SEPTIN12

0 Patents (Medical) associated with SEPTIN12

Literatures (Medical) associated with SEPTIN12

01 Jun 2025·Gene Expression Patterns

Sept10 and sept12 are expressed in specific proliferating cells in zebrafish brain

Article

Author: Berger, Constantin ; Helmprobst, Frederik ; Charlotte Kreß, Julia Katharina

Septins are a group of cytoskeletal GTP binding proteins which are involved in different cellular processes, like cell division, exocytosis and axon growth. Their function, especially in the nervous system, is not clear. In zebrafish 16 different septins are described and for some of them the expression in the brain is described. Interestingly, the expression pattern of several of them is highly specific. Here we describe the expression of sept10 and sept12 in the developing zebrafish brain and found that these show a very defined expression pattern. Interestingly, they show an overlap with a group, but not all proliferating PCNA positive cells in nervous tissue.

01 Nov 2024·Journal of Assisted Reproduction and Genetics

Genetic etiological spectrum of sperm morphological abnormalities

Review

Author: Anifandis, George ; Mehta, Poonam ; Arora, Manvi ; Sethi, Shruti ; Singh, Rajender ; Samara, Mary

PURPOSEMale infertility manifests in the form of a reduction in sperm count, sperm motility, or the loss of fertilizing ability. While the loss of sperm production can have mixed reasons, sperm structural defects, cumulatively known as teratozoospermia, have predominantly genetic bases. The aim of the present review is to undertake a comprehensive analysis of the genetic mutations leading to sperm morphological deformities/teratozoospermia.METHODSWe undertook literature review for genes involved in sperm morphological abnormalities. The genes were classified according to the type of sperm defects they cause and on the basis of the level of evidence determined by the number of human studies and the availability of a mouse knockout.RESULTSMutations in the SUN5, CEP112, BRDT, DNAH6, PMFBP1, TSGA10, and SPATA20 genes result in acephalic sperm; mutations in the DPY19L2, SPATA16, PICK1, CCNB3, CHPT1, PIWIL4, and TDRD9 genes cause globozoospermia; mutations in the AURKC gene cause macrozoospermia; mutations in the WDR12 gene cause tapered sperm head; mutations in the RNF220 and ADCY10 genes result in small sperm head; mutations in the AMZ2 gene lead to vacuolated head formation; mutations in the CC2D1B and KIAA1210 genes lead to pyriform head formation; mutations in the SEPT14, ZPBP1, FBXO43, ZCWPW1, KATNAL2, PNLDC1, and CCIN genes cause amorphous head; mutations in the SEPT12, RBMX, and ACTL7A genes cause deformed acrosome formation; mutations in the DNAH1, DNAH2, DNAH6, DNAH17, FSIP2, CFAP43, AK7, CHAP251, CFAP65, ARMC2 and several other genes result in multiple morphological abnormalities of sperm flagella (MMAF).CONCLUSIONSAltogether, mutations in 31 genes have been reported to cause head defects and mutations in 62 genes are known to cause sperm tail defects.

01 Aug 2024·Reproductive Sciences

Evaluation of an Updated Gene Panel as a Diagnostic Tool for Both Male and Female Infertility

Article

Author: Muller, Jean ; Tarabeux, Julien ; Salvarci, Ahmet ; Okutman, Özlem ; Lang, Cécile ; Büyük, Umut ; Viville, Stephane ; Leuvrey, Anne-Sophie ; Gürbüz, Ali Sami ; Nourisson, Elsa ; Ruso, Halil ; Gürgan, Timur

In recent years, an increasing number of genes associated with male and female infertility have been identified. The genetics of infertility is no longer limited to the analysis of karyotypes or specific genes, and it is now possible to analyse several dozen infertility genes simultaneously. Here, we present the diagnostic activity over the past two years including 140 patients (63 women and 77 men). Targeted sequencing revealed causative variants in 17 patients, representing an overall diagnostic rate of 12.1%, with prevalence rates in females and males of 11% and 13%, respectively. The gene-disease relationship (GDR) was re-evaluated for genes due to the addition of new patients and/or variants in the actual study. Five genes changed categories: two female genes (MEIOB and TBPL2) moved from limited to moderate; two male genes (SOHLH1 and GALNTL5) moved from no evidence to strong and from limited to moderate; and SEPTIN12, which was unable to classify male infertility, was reclassified as limited. Many infertility genes have yet to be identified. With the increasing integration of genetics in reproductive medicine, the scope of intervention extends to include other family members, in addition to individual patients or couples. Genetic counselling consultations and appropriate staffing will need to be established in fertility centres. Trial registration number: Not applicable.

Analysis

Perform a panoramic analysis of this field.

view full example data

AI Agents Built for Biopharma Breakthroughs

Accelerate discovery. Empower decisions. Transform outcomes.

Get started for free today!

Accelerate Strategic R&D decision making with Synapse, PatSnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.

Start your data trial now!

Synapse data is also accessible to external entities via APIs or data packages. Empower better decisions with the latest in pharmaceutical intelligence.

Bio

Bio Sequences Search & Analysis

Chemical

Chemical Structures Search & Analysis

SEPTIN12

Basic Info

Related

Analysis