SPAG16 sperm associated antigen 16 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPAG16provided by HGNC
Official Full Name: sperm associated antigen 16provided by HGNC
Primary source: HGNC:HGNC:23225
See related: Ensembl:ENSG00000144451 MIM:612173; AllianceGenome:HGNC:23225
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PF20; WDR29
Summary: Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with the axoneme of sperm tail and the nucleus of postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).[supplied by OMIM, Jul 2008]
Expression: Broad expression in testis (RPKM 2.7), thyroid (RPKM 1.2) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q34

Exon count:: 33

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (213284464..214410501)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (213765296..214894995)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (214149188..215275225)

Chromosome 2 - NC_000002.12 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?

Genetic variant in SPAG16 is associated with the susceptibility of ACPA-positive rheumatoid arthritis possibly via regulation of MMP-3.
Title: Genetic variant in SPAG16 is associated with the susceptibility of ACPA-positive rheumatoid arthritis possibly via regulation of MMP-3.
Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia.
Title: Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia.
Short-SOX5 regulates transcription of human SPAG16L gene via directly binding to the promoter of SPAG16L.
Title: Transcriptional regulation of human sperm-associated antigen 16 gene by S-SOX5.
SPAG16 is a novel autoantibody target in a subgroup of MS patients and in combination with other diagnostic criteria, elevated levels of anti-SPAG16 Abs could be used as a biomarker for diagnosis.
Title: Sperm-associated antigen 16 is a novel target of the humoral autoimmune response in multiple sclerosis.
SPAG16 influences MMP-3 regulation and protects against joint destruction in autoantibody-positive rheumatoid arthritis.
Title: Identification of a genetic variant for joint damage progression in autoantibody-positive rheumatoid arthritis.
Analysis of SPAG16 regions encoding conserved WD repeats revealed no evidence for association of mutations or genetic variation with sperm motility in infertile males.
Title: Genetic variation in SPAG16 regions encoding the WD40 repeats is not associated with reduced sperm motility and axonemal defects in a population of infertile males.
Observational study of gene-disease association. (HuGE Navigator)
Title: Multistudy fine mapping of chromosome 2q identifies XRCC5 as a chronic obstructive pulmonary disease susceptibility gene.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Heterozygous mutation that affects both SPAG16L and SPAG16S does not cause male infertility in man, but is associated with reduced stability of the interacting proteins of the central apparatus.
Title: A heterozygous mutation disrupting the SPAG16 gene results in biochemical instability of central apparatus components of the human sperm axoneme.
Data describe the cloning of human and mouse Pf20 proteins that interact with Spag6 protein.
Title: A sperm-associated WD repeat protein orthologous to Chlamydomonas PF20 associates with Spag6, the mammalian orthologue of Chlamydomonas PF16.

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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

EBI GWAS Catalog

Description
Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of sperm associated antigen 16 (SPAG16) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S334 (e-PCR), detects polymorphism
- UniSTS:73732

SHGC-144363 (e-PCR)
- UniSTS:183326

G66878 (e-PCR)
- UniSTS:166689

WI-18681 (e-PCR)
- UniSTS:12066

D1S1649 (e-PCR)
- UniSTS:68648

D14S1164 (e-PCR)
- UniSTS:70464

D2S128 (e-PCR), detects polymorphism
- UniSTS:1117

A004I11 (e-PCR)
- UniSTS:76894

D2S2319 (e-PCR)
- UniSTS:29278

D2S1345 (e-PCR), detects polymorphism
- UniSTS:47204

SHGC-62913 (e-PCR)
- UniSTS:95341

SHGC-155580 (e-PCR)
- UniSTS:185200

D2S1327 (e-PCR), detects polymorphism
- UniSTS:70014

SHGC-763 (e-PCR)
- UniSTS:86157

SHGC-82984 (e-PCR)
- UniSTS:101268

D2S334 (e-PCR), detects polymorphism
- UniSTS:52129

G16506 (e-PCR)
- UniSTS:76457

D2S1656E (e-PCR)
- UniSTS:150702

EV98Mn (e-PCR)
- UniSTS:12725

SHGC-83870 (e-PCR)
- UniSTS:101840

RH79632 (e-PCR)
- UniSTS:85204

D2S2048 (e-PCR)
- UniSTS:61425

Clone Names

FLJ22724, FLJ37717, MGC87036, DKFZp666P1710

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axoneme assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in axoneme assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cerebrospinal fluid circulation	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in mucociliary clearance	IEA Inferred from Electronic Annotation more info
involved_in sperm axoneme assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in axonemal central apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in sperm flagellum	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: sperm-associated antigen 16 protein

Names: WD repeat domain 29; pf20 protein homolog; sperm-associated WD repeat 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_001025436.3 → NP_001020607.1 sperm-associated antigen 16 protein isoform 2

See identical proteins and their annotated locations for NP_001020607.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and lacks a large portion of the 3' coding region, compared to variant 1. The encoded isoform (2) is significantly shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

BC067756, CA313710

Consensus CDS

CCDS46508.1

UniProtKB/Swiss-Prot

Q8N0X2

UniProtKB/TrEMBL

Q4G1A2

Related

ENSP00000415079.2, ENST00000432529.6
NM_024532.5 → NP_078808.3 sperm-associated antigen 16 protein isoform 1

See identical proteins and their annotated locations for NP_078808.3

Status: VALIDATED

Description

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

Source sequence(s)

AF310672, AF490390, AK302351

Consensus CDS

CCDS2396.1

UniProtKB/Swiss-Prot

Q498B7, Q658W1, Q68DB3, Q6I9Z6, Q8N0X2, Q8N9C7, Q9H601

UniProtKB/TrEMBL

Q4G1A2

Related

ENSP00000332592.5, ENST00000331683.10

Conserved Domains (4) summary

COG2319
Location:341 → 631

WD40; WD40 repeat [General function prediction only]

cd00200
Location:344 → 631

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:355 → 392

7WD40; WD40 repeat [structural motif]

cl09111
Location:160 → 271

Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...

RNA

NR_047659.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK302351, AW207406, BC025379

Related

ENST00000406979.6
NR_047660.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an internal exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK302351, BC025379

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_000002.12 Reference GRCh38.p14 Primary Assembly

Range

213284464..214410501

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011511814.2 → XP_011510116.1 sperm-associated antigen 16 protein isoform X1

UniProtKB/TrEMBL

Q4G1A2

Conserved Domains (4) summary

COG2319
Location:310 → 600

WD40; WD40 repeat [General function prediction only]

cd00200
Location:313 → 600

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:324 → 361

7WD40; WD40 repeat [structural motif]

cl09111
Location:129 → 240

Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
XM_011511820.3 → XP_011510122.1 sperm-associated antigen 16 protein isoform X7

Conserved Domains (4) summary

COG2319
Location:302 → 569

WD40; WD40 repeat [General function prediction only]

cd00200
Location:344 → 569

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:355 → 392

7WD40; WD40 repeat [structural motif]

cl09111
Location:160 → 271

Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
XM_011511815.3 → XP_011510117.1 sperm-associated antigen 16 protein isoform X2

Conserved Domains (4) summary

COG2319
Location:342 → 577

WD40; WD40 repeat [General function prediction only]

cd00200
Location:348 → 580

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:356 → 392

7WD40; WD40 repeat [structural motif]

cl09111
Location:160 → 271

Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
XM_011511817.3 → XP_011510119.1 sperm-associated antigen 16 protein isoform X4

Conserved Domains (3) summary

COG2319
Location:341 → 561

WD40; WD40 repeat [General function prediction only]

cd00200
Location:348 → 551

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:356 → 392

7WD40; WD40 repeat [structural motif]
XM_011511816.4 → XP_011510118.1 sperm-associated antigen 16 protein isoform X3

Conserved Domains (4) summary

COG2319
Location:343 → 585

WD40; WD40 repeat [General function prediction only]

cd00200
Location:348 → 551

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:356 → 392

7WD40; WD40 repeat [structural motif]

cl09111
Location:160 → 271

Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
XM_011511818.3 → XP_011510120.1 sperm-associated antigen 16 protein isoform X6

Conserved Domains (4) summary

COG2319
Location:341 → 561

WD40; WD40 repeat [General function prediction only]

cd00200
Location:348 → 551

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:356 → 392

7WD40; WD40 repeat [structural motif]

cl09111
Location:160 → 271

Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
XM_011511824.3 → XP_011510126.1 sperm-associated antigen 16 protein isoform X9

Conserved Domains (3) summary

COG2319
Location:341 → 516

WD40; WD40 repeat [General function prediction only]

cd00200
Location:348 → 518

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:356 → 392

7WD40; WD40 repeat [structural motif]
XM_011511831.3 → XP_011510133.1 sperm-associated antigen 16 protein isoform X15

See identical proteins and their annotated locations for XP_011510133.1

UniProtKB/TrEMBL

E7EWV3
XM_011511832.3 → XP_011510134.1 sperm-associated antigen 16 protein isoform X16

See identical proteins and their annotated locations for XP_011510134.1

UniProtKB/TrEMBL

E7EWV3
XM_011511828.3 → XP_011510130.1 sperm-associated antigen 16 protein isoform X13

UniProtKB/TrEMBL

E7EWV3
XM_011511829.3 → XP_011510131.1 sperm-associated antigen 16 protein isoform X14

UniProtKB/TrEMBL

E7EWV3
XM_011511827.3 → XP_011510129.1 sperm-associated antigen 16 protein isoform X12

UniProtKB/TrEMBL

E7EWV3
XM_011511837.4 → XP_011510139.1 sperm-associated antigen 16 protein isoform X20

UniProtKB/TrEMBL

E7EWV3
XM_006712746.4 → XP_006712809.1 sperm-associated antigen 16 protein isoform X18

UniProtKB/TrEMBL

E7EWV3

Related

ENSP00000400847.1, ENST00000447990.1
XM_017004899.3 → XP_016860388.1 sperm-associated antigen 16 protein isoform X17
XM_011511823.4 → XP_011510125.1 sperm-associated antigen 16 protein isoform X8

See identical proteins and their annotated locations for XP_011510125.1

UniProtKB/TrEMBL

B4DYB5, C9JV44

Conserved Domains (2) summary

cd00200
Location:241 → 528

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:252 → 289

7WD40; WD40 repeat [structural motif]
XM_011511819.3 → XP_011510121.1 sperm-associated antigen 16 protein isoform X5

UniProtKB/TrEMBL

Q4G1A2

Conserved Domains (4) summary

COG2319
Location:287 → 577

WD40; WD40 repeat [General function prediction only]

cd00200
Location:290 → 577

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:301 → 338

7WD40; WD40 repeat [structural motif]

cl09111
Location:106 → 217

Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
XM_047445817.1 → XP_047301773.1 sperm-associated antigen 16 protein isoform X10
XM_017004897.1 → XP_016860386.1 sperm-associated antigen 16 protein isoform X10

UniProtKB/TrEMBL

B4DYB5, C9JV44

Conserved Domains (4) summary

COG2319
Location:222 → 512

WD40; WD40 repeat [General function prediction only]

cd00200
Location:225 → 512

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:236 → 273

7WD40; WD40 repeat [structural motif]

cl09111
Location:41 → 152

Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
XM_017004898.1 → XP_016860387.1 sperm-associated antigen 16 protein isoform X11
XM_024453140.2 → XP_024308908.1 sperm-associated antigen 16 protein isoform X19

Conserved Domains (2) summary

cd00200
Location:38 → 325

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:49 → 86

7WD40; WD40 repeat [structural motif]