SEPTIN12 septin 12 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (4777606..4791828, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (4807061..4821315, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (4827607..4838346, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SEPTIN12 c.474 G > A polymorphism as a risk factor in teratozoospermic patients.
Title: SEPTIN12 c.474 G > A polymorphism as a risk factor in teratozoospermic patients.
Single-nucleotide polymorphism c.474G>A in the SEPT12 gene is a predisposing factor in male infertility.
Title: Single-nucleotide polymorphism c.474G>A in the SEPT12 gene is a predisposing factor in male infertility.
Single nucleotide polymorphism c.673C>A/p.Gln225Lys in SEPT12 gene is associated with male idiopathic infertility.
Title: Association of single nucleotide polymorphism c.673C>A/p.Gln225Lys in SEPT12 gene with spermatogenesis failure in male idiopathic infertility in Northeast China.
the current work identified the promoter of the human SEPT12 gene and provided key evidence about its transcriptional regulation via E2 and 5alpha-DHT.
Title: Identification of SEPTIN12 as a novel target of the androgen and estrogen receptors in human testicular cells.
In mature human spermatozoa, SEPT12 and NDC1 are majorly colocalized in the centrosome regions; however, NDC1 is only slightly co-expressed with SEPT12 at the annulus of the sperm tail.
Title: SEPT12-NDC1 Complexes Are Required for Mammalian Spermiogenesis.
results demonstrate the molecular architecture of SEPT12 filaments at the sperm annulus, their mechanical support of sperm motility, and their correlation with male infertility.
Title: SEPT12 orchestrates the formation of mammalian sperm annulus by organizing core octameric complexes with other SEPT proteins.
we discovered that the SEPTIN12-microtubule complexes are critical for sperm formation during spermiogenesis
Title: SEPT12-microtubule complexes are required for sperm head and tail formation.
SEPTIN12 genetic variants confer susceptibility to teratozoospermia
Title: SEPTIN12 genetic variants confer susceptibility to teratozoospermia.
Eight coding single-nucleotide polymorphisms in SEPTIN12 were detected in the patients with Sertoli cell-only syndrome. Analysis of the results suggest that SEPTIN12 might play a critical role in human spermatogenesis.
Title: Single-nucleotide polymorphisms in the SEPTIN12 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome.
SEPT12 mutations cause male infertility with defective sperm annulus and disrupt sperm structural integrity
Title: SEPT12 mutations cause male infertility with defective sperm annulus.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GDP binding	ISS Inferred from Sequence or Structural Similarity more info
enables GTP binding	IDA Inferred from Direct Assay more info	PubMed
enables GTP binding	ISS Inferred from Sequence or Structural Similarity more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables molecular adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info

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 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
is_active_in cell division site	IBA Inferred from Biological aspect of Ancestor more info
located_in cleavage furrow	ISS Inferred from Sequence or Structural Similarity more info
is_active_in microtubule cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
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
part_of septin complex	ISS Inferred from Sequence or Structural Similarity more info
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	IDA Inferred from Direct Assay more info	PubMed
located_in stress fiber	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: septin-12

Names: testicular tissue protein Li 168

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.

Genomic

NG_030315.1 RefSeqGene

Range

5177..15916

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001154458.3 → NP_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:46 → 271

CDC_Septin; CDC/Septin GTPase family
NM_144605.5 → NP_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:46 → 317

CDC_Septin; CDC/Septin GTPase 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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

4777606..4791828 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017022938.2 → XP_016878427.1 septin-12 isoform X1
XM_024450155.2 → XP_024305923.1 septin-12 isoform X2

UniProtKB/Swiss-Prot

Q0P6B0, Q1PBH0, Q8IYM1, Q96LL0

Conserved Domains (1) summary

cd01850
Location:46 → 317

CDC_Septin; CDC/Septin GTPase family
XM_006720846.3 → XP_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:46 → 317

CDC_Septin; CDC/Septin GTPase family
XM_011522379.4 → XP_011520681.1 septin-12 isoform X3

Conserved Domains (1) summary

cd01850
Location:2 → 253

CDC_Septin; CDC/Septin GTPase family