SPEF2 - sperm flagellar 2 Gene

Also Known as KPL2; CT122; SPGF43

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79925

About SPEF2

Cytogenetic location: 5p13.2 Genomic coordinates (GRCh38): 5:35,617,863-35,814,611 (from NCBI)

This gene has 16 transcripts (splice variants), 198 orthologues and is associated with 3 phenotypes. Broad expression in endometrium (RPKM 2.4), testis (RPKM 2.1) and 24 other tissues.

Summary

Involved in sperm axoneme assembly. Located in sperm flagellum. Implicated in spermatogenic failure 43. [provided by Alliance of Genome Resources, Apr 2022]

SPEF2 Products (2)

mRNA	Protein	Name
NM_024867.4	NP_079143.3	sperm flagellar protein 2 isoform 1
NM_144722.4	NP_653323.1	sperm flagellar protein 2 isoform 2

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
involved in sperm axoneme assembly	IMP IMP: Inferred from mutant phenotype	31048344	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in sperm flagellum	IDA IDA: Inferred from direct assay	31048344	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SPEF2 Protein Structure

CH_2

ADK

Dimer_Tnp_hAT

0
300
600
900
1200
1500
1822 a.a.

Protein Preferred Names	Protein Names
sperm flagellar protein 2	cancer/testis antigen 122

Related Diseases

Diseases	Alias
Spermatogenic Failure 43	SPGF43
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
Non-Syndromic Male Infertility Due To Sperm Motility Disorder	Non-Syndromic Male Infertility Due Asthenozoospermia
Spermatogenic Failure	Azoospermia Spgf Spermatogenic Failure, Susceptibility To Absent Sperm Aspermatogenesis Infertility Due To Azoospermia Hypospermatogenesis Azoospermatism
Infertility
Waardenburg Syndrome, Type 4a	Waardenburg-Shah Syndrome Shah-Waardenburg Syndrome Waardenburg Syndrome Type 4a WS4A Ws4 Waardenburg Syndrome Type 4 Waardenburg Syndrome Type Iva Waardenburg Syndrome With Hirschsprung Disease Type 4a Hirschsprung Disease With Pigmentary Anomaly Waardenburg-Hirschsprung Syndrome Waardenburg Syndrome, Type Iva Waardenburg Syndrome With Hirschsprung Disease, Type 4a Waardenburg-Hirschsprung Disease Waardenburg Syndrome, Type 4 Waardenburg Syndrome 4a
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13657	SPEF2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SPEF2	VGNC	VGNC:65631
Bos taurus	SPEF2	VGNC	VGNC:35202
Macaca mulatta	SPEF2	VGNC	VGNC:82243
Rattus norvegicus	SPEF2	RGD	RGD:620450
Mus musculus	SPEF2	MGD	MGI:2443727
Canis familiaris	SPEF2	VGNC	VGNC:46731
Others	SPEF2	NCBI