SPEF2 - sperm flagellar 2 Gene

Homo sapiens

Also known as KPL2; CT122; SPGF43

Gene ID: 79925 | Gene type: protein coding

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

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

Bioactive Molecules (1)

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

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