HYDIN (HYDIN axonemal central pair apparatus protein)

2003-12-01  

Identity

HGNC
LOCATION
16q22.2
LOCUSID
ALIAS
CILD5,HYDIN1,HYDIN2,PPP1R31
FUSION GENES

Other Information

Locus ID:

NCBI: 54768
MIM: 610812
HGNC: 19368
Ensembl: ENSG00000157423

Variants:

dbSNP: 54768
ClinVar: 54768
TCGA: ENSG00000157423
COSMIC: HYDIN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157423ENST00000288168F8WD03
ENSG00000157423ENST00000321489Q4G0P3
ENSG00000157423ENST00000378856J3QL30
ENSG00000157423ENST00000393552J3QQJ7
ENSG00000157423ENST00000393567Q4G0P3
ENSG00000157423ENST00000538248Q4G0P3
ENSG00000157423ENST00000538382H0YF91
ENSG00000157423ENST00000538568J3KRJ6
ENSG00000157423ENST00000539447J3KTP9
ENSG00000157423ENST00000539973F5H8I6
ENSG00000157423ENST00000541601Q4G0P3
ENSG00000157423ENST00000542890H0YH52
ENSG00000157423ENST00000545230J3QL79
ENSG00000157423ENST00000545267F5GXK3
ENSG00000157423ENST00000546257J3KSY5
ENSG00000157423ENST00000546297A0A087WVK9

Expression (GTEx)

0
1
2
3
4
5
6

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
385810272024Association study of FLT4 and HYDIN single nucleotide polymorphisms with atrial septal defect susceptibility in the Han Chinese population of Southwest China.1
385810272024Association study of FLT4 and HYDIN single nucleotide polymorphisms with atrial septal defect susceptibility in the Han Chinese population of Southwest China.1
361121142023HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians.1
367424112023Novel HYDIN variants associated with male infertility in two Chinese families.0
361121142023HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians.1
367424112023Novel HYDIN variants associated with male infertility in two Chinese families.0
361408292022Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries.3
361408292022Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries.3
315456502020SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics.36
315456502020SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics.36
310899402019A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia.0
310899402019A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia.0
295055552018Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES).2
295055552018Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES).2
247776812013Alternative variants of human HYDIN are novel cancer-associated antigens recognized by adaptive immunity.11

Citation

Dessen P

HYDIN (HYDIN axonemal central pair apparatus protein)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/40906/hydin