1. Gene
  2. NME8 - NME/NM23 family member 8 Gene

NME8 - NME/NM23 family member 8 Gene

Homo sapiens

Also known as CILD6; DNAI8; SPTRX2; TXNDC3; NM23-H8; sptrx-2; HEL-S-99

Gene ID: 51314 | Gene type: protein coding

About NME8

Cytogenetic location: 7p14.1 Genomic coordinates (GRCh38): 7:37,848,597-37,900,397 (from NCBI)

This gene has 6 transcripts (splice variants), 125 orthologues, 8 paralogues and is associated with 2 phenotypes. Biased expression in testis (RPKM 4.9), bone marrow (RPKM 3.6) and 3 other tissues.

Summary

This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009]

NME8 Products(1)

mRNA Protein Name
NM_016616.5 NP_057700.3 thioredoxin domain-containing protein 3

NME8 Protein Structure

Thioredoxin

Thioredoxin: Thioredoxin (14 - 102)

NDK

NDK: Nucleoside diphosphate kinase (156 - 229)

NDK

NDK: Nucleoside diphosphate kinase (316 - 449)

NDK

NDK: Nucleoside diphosphate kinase (451 - 584)

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  • 588 a.a.
Protein Preferred Names Protein Names

thioredoxin domain-containing protein 3

epididymis secretory protein Li 99

Related Diseases

Diseases Alias
Ciliary Dyskinesia, Primary, 6

Primary Ciliary Dyskinesia 6

CILD6

Ics6

Immotile Cilia Syndrome 6

Dyskinesia, Ciliary, Primary, 6

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

Kartagener Syndrome

Kartagener'S Syndrome

Ciliary Dyskinesia, Primary, 10

Primary Ciliary Dyskinesia 10

CILD10

Primary Ciliary Dyskinesia 10 With Or Without Situs Inversus

Ciliary Dyskinesia, Primary, 10, With Or Without Situs Inversus

Ics10

Immotile Cilia Syndrome 10

Dyskinesia, Ciliary, Primary, 10

Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv

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

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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

Orthologs Information

Species Symbol Source ID
Mus musculus NME8 MGD MGI:1920662
Bos taurus NME8 VGNC VGNC:32130
Rattus norvegicus NME8 RGD RGD:735069
Felis catus NME8 VGNC VGNC:63838
Canis familiaris NME8 VGNC VGNC:43859
Macaca mulatta NME8 VGNC VGNC:75190