SPAG4 sperm associated antigen 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPAG4provided by HGNC
Official Full Name: sperm associated antigen 4provided by HGNC
Primary source: HGNC:HGNC:11214
See related: Ensembl:ENSG00000061656 MIM:603038; AllianceGenome:HGNC:11214
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: SUN4; CT127
Summary: The mammalian sperm flagellum contains two cytoskeletal structures associated with the axoneme: the outer dense fibers surrounding the axoneme in the midpiece and principal piece and the fibrous sheath surrounding the outer dense fibers in the principal piece of the tail. Defects in these structures are associated with abnormal tail morphology, reduced sperm motility, and infertility. In the rat, the protein encoded by this gene associates with an outer dense fiber protein via a leucine zipper motif and localizes to the microtubules of the manchette and axoneme during sperm tail development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Expression: Broad expression in testis (RPKM 8.6), pancreas (RPKM 6.3) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.22

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (35615829..35621094)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (37336805..37342070)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (34203751..34209016)

Chromosome 20 - NC_000020.11 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 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?

Human sperm-associated antigen 4 as a potential prognostic biomarker of lung squamous cell carcinoma.
Title: Human sperm-associated antigen 4 as a potential prognostic biomarker of lung squamous cell carcinoma.
Results indicate that sperm associated antigen 4 (SPAG4L/SPAG4Lbeta) transcript isoform interacts with spectrin repeat containing nuclear envelope protein 2 (Nesprin2) in the meiotic process.
Title: SPAG4L/SPAG4Lβ interacts with Nesprin2 to participate in the meiosis of spermatogenesis.
Our study revealed that SPAG4 was identified as a cancer biomarker for glioblastoma and might be a promising target for clinical diagnosis and intervention of glioblastoma.
Title: Human sperm-associated antigen 4 as a potential biomarker of glioblastoma progression and prognosis.
SPAG4, in cooperation with Nesprin3, has a fundamental pathological function in the migration of lung carcinoma cells.
Title: Sperm‑associated antigen 4 (SPAG4) as a new cancer marker interacts with Nesprin3 to regulate cell migration in lung carcinoma.
SPAG4 knockdown reduces the invasion capability of RCC cells.
Title: Hypoxia regulates the sperm associated antigen 4 (SPAG4) via HIF, which is expressed in renal clear cell carcinoma and promotes migration and invasion in vitro.
SPAG4 is an independent prognostic factor in renal cell carcinoma and plays a crucial role in cytokinesis to defend against hypoxia-induced tetraploid formation.
Title: Sperm-associated antigen 4, a novel hypoxia-inducible factor 1 target, regulates cytokinesis, and its expression correlates with the prognosis of renal cell carcinoma.

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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

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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Markers

ECD09260 (e-PCR)
- UniSTS:290304

REN58441 (e-PCR)
- UniSTS:383241

REN58442 (e-PCR)
- UniSTS:383242

REN58443 (e-PCR)
- UniSTS:383243

REN58444 (e-PCR)
- UniSTS:383244

REN58445 (e-PCR)
- UniSTS:383245

REN58446 (e-PCR)
- UniSTS:383246

REN58447 (e-PCR)
- UniSTS:383247

REN58448 (e-PCR)
- UniSTS:383248

REN58449 (e-PCR)
- UniSTS:383249

REN58450 (e-PCR)
- UniSTS:383250

REN58451 (e-PCR)
- UniSTS:383251

REN58452 (e-PCR)
- UniSTS:383252

REN58453 (e-PCR)
- UniSTS:383253

REN58454 (e-PCR)
- UniSTS:383254

REN58455 (e-PCR)
- UniSTS:383255

REN58456 (e-PCR)
- UniSTS:383256

REN58457 (e-PCR)
- UniSTS:383257

REN58458 (e-PCR)
- UniSTS:383258

REN58459 (e-PCR)
- UniSTS:383259

REN58460 (e-PCR)
- UniSTS:383260

REN58461 (e-PCR)
- UniSTS:383261

REN58462 (e-PCR)
- UniSTS:383262

REN58463 (e-PCR)
- UniSTS:383263

REN58464 (e-PCR)
- UniSTS:383264

REN58465 (e-PCR)
- UniSTS:383265

REN58466 (e-PCR)
- UniSTS:383266

REN58467 (e-PCR)
- UniSTS:383267

REN58468 (e-PCR)
- UniSTS:383268

REN58469 (e-PCR)
- UniSTS:383269

REN58470 (e-PCR)
- UniSTS:383270

REN58471 (e-PCR)
- UniSTS:383271

ECD22687 (e-PCR)
- UniSTS:303672

NoName (e-PCR)
- UniSTS:483390

ECD11125 (e-PCR)
- UniSTS:292161

ECD21724 (e-PCR)
- UniSTS:302718

ECD20457 (e-PCR)
- UniSTS:301460

NoName (e-PCR)
- UniSTS:481450

ECD09178 (e-PCR)
- UniSTS:290222

ECD08685 (e-PCR)
- UniSTS:289733

ECD08443 (e-PCR)
- UniSTS:289491

SHGC-111118 (e-PCR)
- UniSTS:168151

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-membrane adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables structural molecule activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
part_of meiotic nuclear membrane microtubule tethering complex	IBA Inferred from Biological aspect of Ancestor more info
located_in motile cilium	IEA Inferred from Electronic Annotation more info
is_active_in nuclear envelope	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear inner membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: sperm-associated antigen 4 protein

Names: SUN domain-containing protein 4; Sad1 and UNC84 domain containing 4; acrosomal protein ACR55; cancer/testis antigen 127; outer dense fiber-associated protein SPAG4; sperm tail protein

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.

mRNA and Protein(s)

NM_001317931.1 → NP_001304860.1 sperm-associated antigen 4 protein isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 5' terminal exon, resulting in a distinct 5' UTR and the use of an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus, and is shorter, compared to isoform 1.

Source sequence(s)

BC143783, HY021678

Consensus CDS

CCDS93032.1

UniProtKB/TrEMBL

A0A7P0Z4G5

Related

ENSP00000505928.1, ENST00000679710.1

Conserved Domains (1) summary

pfam07738
Location:214 → 345

Sad1_UNC; Sad1 / UNC-like C-terminal
NM_003116.3 → NP_003107.1 sperm-associated antigen 4 protein isoform 1

See identical proteins and their annotated locations for NP_003107.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AF262992, AI168233, AL109827, HY021678

Consensus CDS

CCDS13259.1

UniProtKB/Swiss-Prot

O43648, Q9NPE6

Related

ENSP00000363391.3, ENST00000374273.8

Conserved Domains (1) summary

pfam07738
Location:291 → 422

Sad1_UNC; Sad1 / UNC-like C-terminal

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

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

35615829..35621094

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011529009.3 → XP_011527311.1 sperm-associated antigen 4 protein isoform X1

Conserved Domains (1) summary

pfam07738
Location:247 → 378

Sad1_UNC; Sad1 / UNC-like C-terminal
XM_005260520.5 → XP_005260577.1 sperm-associated antigen 4 protein isoform X2

Conserved Domains (1) summary

pfam07738
Location:198 → 329

Sad1_UNC; Sad1 / UNC-like C-terminal