Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54768
Gene name	HYDIN axonemal central pair apparatus protein
Gene symbol	HYDIN
Synonyms (NCBI Gene)	CILD5HYDIN1HYDIN2PPP1R31
Chromosome	16
Chromosome location	16q22.2
Summary	This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs79607350	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs373501414	C>A,T	Pathogenic	Splice acceptor variant, genic upstream transcript variant, genic downstream transcript variant
rs397515413	C>A	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, genic downstream transcript variant
rs397515414	T>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs774501536	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs1064795912	GA>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1567744830	C>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained

Show/Hide all (26)

miRTarBase ID	miRNA	Experiments
MIRT1057810	hsa-miR-1827	CLIP-seq
MIRT1057811	hsa-miR-4468	CLIP-seq
MIRT1057812	hsa-miR-4499	CLIP-seq
MIRT1057813	hsa-miR-4690-3p	CLIP-seq
MIRT1057814	hsa-miR-4709-3p	CLIP-seq
MIRT1057815	hsa-miR-558	CLIP-seq
MIRT1057816	hsa-miR-759	CLIP-seq
MIRT1057817	hsa-miR-548ac	CLIP-seq
MIRT1057818	hsa-miR-548ae	CLIP-seq
MIRT1057819	hsa-miR-548aj	CLIP-seq
MIRT1057820	hsa-miR-548am	CLIP-seq
MIRT1057821	hsa-miR-548d-3p	CLIP-seq
MIRT1057822	hsa-miR-548x	CLIP-seq
MIRT1057823	hsa-miR-548z	CLIP-seq
MIRT2548765	hsa-miR-1208	CLIP-seq
MIRT2548766	hsa-miR-3064-5p	CLIP-seq
MIRT2548767	hsa-miR-3652	CLIP-seq
MIRT2548768	hsa-miR-4318	CLIP-seq
MIRT2548769	hsa-miR-4430	CLIP-seq
MIRT2548770	hsa-miR-4505	CLIP-seq
MIRT2548765	hsa-miR-1208	CLIP-seq
MIRT2548766	hsa-miR-3064-5p	CLIP-seq
MIRT2548767	hsa-miR-3652	CLIP-seq
MIRT2548768	hsa-miR-4318	CLIP-seq
MIRT2548769	hsa-miR-4430	CLIP-seq
MIRT2548770	hsa-miR-4505	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002064	Process	Epithelial cell development	IEA
GO:0003341	Process	Cilium movement	IBA
GO:0003341	Process	Cilium movement	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA	31429579
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0007420	Process	Brain development	IEA
GO:0021591	Process	Ventricular system development	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	IDA	31429579
GO:0042995	Component	Cell projection	IEA
GO:0060438	Process	Trachea development	IEA
GO:1904158	Process	Axonemal central apparatus assembly	IBA
GO:1904158	Process	Axonemal central apparatus assembly	IEA
GO:1990716	Component	Axonemal central apparatus	IEA
GO:1990716	Component	Axonemal central apparatus	ISS
GO:1990718	Component	Axonemal central pair projection	IEA

MIM	HGNC	e!Ensembl
610812	19368	ENSG00000157423

Q4G0P3

Protein name

Hydrocephalus-inducing protein homolog

Protein function

Required for ciliary motility.

PDB

2E6J , 2YS4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15780	ASH	513 → 613		Domain
PF17213	Hydin_ADK	2038 → 2236	Hydin Adenylate kinase-like domain	Domain

Sequence

MTSRRLEESMGAVQMGLVNMFKGFQSKVLPPLSPKVVTEEEVNRMLTPSEFLKEMSLTTE
QRLAKTRLMCRPQIIELLDMGETTHQKFSGIDLDQALFQPFPSEIIFQNYTPCEVYEVPL
ILRNNDKIPRLVKVVEESSPYFKVISPKDIGHKVAPGVPSIFRILFTPEENKDYAHTLTC
VTEREKFIVPIKARGARAILDFPDKLNFSTCPVKYSTQKILLVRNIGNKNAVFHIKTCRP
FSIEPAIGTLNVGESMQLEVEFEPQSVGDHSGRLIVCYDTGEKVFVSLYGAAIDMNIRLD
KNSLTIEKTYISLANQRTITIHNRSNIIAHFLWKVFATQQEEDREKYRACDDLIKEEKDE
TDEFFEECITDPLLREHLSVLSRTFANQRRLVQGDSKLFFNNVFTVEPLEGDVWPNSSAE
ITVYFNPLEAKLYQQTIYCDILGREIRLPLRIKGEGMGPKIHFNFELLDIGKVFTGSAHC
YEAILYNKGSIDALFNMTPPTSALGACFVFSPKEGIIEPSGVQAIQISFSSTILGNFEEE
FLVNVNGSPEPVKLTIRGCVIGPTFHFNVPALHFGDVSFGFPHTLICSLNNTSLIPMTYK
LRIPGDGLGHKSISYCEQHVDYKRPSWTKEEISSMKPKEFTISPDCGTIRPQGFAAIRVT
LCSNTVQKYELALVVDVEGIGEEVLALLITARCVVPALHLVNTEVDFGHCFLKYPYEKTL
QLANQDDLPGFYEVQPQVCEEVPTVLFSSPTPSGVISPSSTIHIPLVLETQVTGEHRSTV
YISIFGSQDPPLVCHLKSAGEGPVIYVHPNQVDFGNIYVLKDSSRILNLCNQSFIPAFFQ
AHMAHKKSLWTIEPNEGMVPPETDVQLALTANLNDTLTFKDCVILDIENSSTYRIPVQAS
GTGSTIVSDKPFAPELNLGAHFSLDTHYYHFKLINKGRRIQQLFWMNDSFRPQAKLSKKG
RVKKGHAHVQPQPSGSQEPRDPQSPVFHLHPASMELYPGQAIDVILEGYSATPRIVKEKL
VCHAIIGAQKGKSLVMAVNITCEFVAPLIQLSTKQLIYRLEKKPNSILKPDYQPLAIKNI
STLPVNLLLSTSGPFFICETDKSLLPATPEPIKLEIDEEKNLLIKFDPSYRNDLNNWVAE
EILAIKYVEHPQIDSLDLRGEVHYPNLSFETKELDFGCILNDTELIRYVTITNCSPLVVK
FRWFFLVNDEENQIRFVTLPKKPYSAPVSQMESIPATSEAASPPAILVTVESPEMDLNDF
VKTVLVDEDARPEEKELRKTKASSVISDEIKISSTEIERIYSSQSQVEDQESLQTCEQNE
MLSIGIEEVFDILPLFGVLQPHSSHQISFTFYGHANIIAQAKALCEVEEGPTYEITLKGE
ASLVNYSFDTKDIHYGLQLFDHVTEREITLTNMGKVGFEFKVLTDHQSSPDNLLPGVPLI
LPVSGFISSHQEQVLKVYYLPGVPEVFKRSFQIQIAHLDPENITLSGEGIFPQICLDLPR
NLTANEKYEMFLNQARKNTDKEYNKCEMLDHFDIITEEVPEDEPAEVSAHLQMEVERLIV
QSYVLEHQKTTTPDPMDDPCFSHRSRRKLAKIQLPEYILDFGYIILGEVRTHIIKIINTS
HFPVSFHADKRVLHETGFSTELDRVKNLPHCETEIFEVRFDPQGANLPVGSKEVILPIKV
VGGPTVHICLQAKVTIPTMTLSRGKVDFATIQCGQCLVETIQLSNHLQVPCEWFVQSQKP
VDKLEKHMPKYLRQKLRAELKPKTRIFEIQPISGVLDPGEKSNVQVKFMPKEEKFYSQTL
VFQIAQSAQKLTLLARGQGLEPRLEFSPSVLDLGPLLLCAPGDEAEVIVKNPCNFPIEFY
SLEFDQQYLIEEKILRKLKGYDSYNTLLLPPRNPGEKLPPELYEYFKEIKKSKEEQMRAK
YLENLAQENEEEDITSSDQGTSNSTKRTSLSRGISVTSNLEEWHALLVESKTYLEEEEDE
ESLEKIIFQTDKLQSIDSHSMEEVGEVENNPVSKAIARHLGIDISAEGRLAKNRKGIAII
IHGTPLSGKSANAVSVAKYYNAACLSIDSIVLEAVANSNNIPGIRARELCIRAAIEQSVK
EGEEAAQEAAVGQNVIGQGRLSTDTLGKLASEMTLVAPEIKPGKSVRGSVVITKSKADSH
GSGSQKQHHSHQSETPQISSSPLPPGPIHRWLSVSPSVGGETGLMSCVLPDELLVQILAE
RIQLSDCYRGVVFDGLDTLFAQNAAAALLCLLKAIGSREHIYILNMAQDYAAMKAQEKAK
KEQEERKHKGALEKEKERLQNMDEEEYDALTEEEKLTFDRGIQQALRERKKREQERLAKE
MQEKKLQQELERQKEEDELKRRVKKGKQGPIKEEPPMKKSQAANKQVPPLTKVDVKMETI
ERKISVREQTMSEKEELNKKKRNMGDVSMHGLPLVQDQEDSEGDNSKDPDKQLAPKFKTY
ELTLKDVQNILMYWDRKQGVQLPPAGMEEAPHEPDDQRQVPLGGRRGRKDRERERLEKER
TEKERLEREKAERERLEKLRALEERSDWEGEGEEDHEGKKEKDLGVPFLDIQTPDFEGLS
WKQALESDKLPKGEQILDILGLGASGPPIPPPALFSIVSYPVKRPPLTMTDDLEHFVFVI
PPSEDISLDEKKEMEIESDFLATTNTTKAQEEQTSSSKGGKQKMKEKIDQVFEIQKDKRH
MALNRKVLSGEPAGTISQLSDTDLDNFNGQHSQEKFTRLNHFRWIVPANGEVTLQVHFSS
DEFGNFDQTFNFEILGTCCQYQLYCRGICTYPYICQDPKVVFPQRKMDMKTNEVIFKKYV
MSTETYYFGPLLCGKSRDKYKSSLFPGNMETLTILNTSLMVVEASFYFQNDVKANTYFLE
PNTMVLKPNEKQILNVWAYPTSVGVFEDSIVCCINDNPEPAIFQLSCQGIRPELELEPRQ
LHFDRLLLHRQESRVVLLRNVTLLPVAWRITSLEHLGDDFTVSLMQGTIPPEAEYGLHLY
FQPTKPVNIKKAIRLEVLDAENLLGVVQIENIMVFAEAYDIALDITFPKGAEGGLDFGIV
RVTEEAKQPLQLKNRGKYEIAFSFSVDSVGISTPNINSMISVQPKKGSLTPTEKPTNVQV
FFHAKKEVKIEHQPVLRCQIIEPNISEGGEIIASIPIKFSANAVYSKYNITPSSVINFGA
LICGTRKSTTFTIENQGVTDFKFALYKLTGESPIHQKKAASHVRHARSRESESFYKTGSS
RAAKFSDTIQKEVTTTGQARFAHGMFTVYPGFGSIPSGGQQVINVDCVADAMGKCEEFIA
IDISGRDPAVHPAGILYTLLAEACLPAFVTENNALIFEEHQICTSANLHHILQTIESGGL
FVEDENKFIFCNVLVGRQAKARFKISNVGKITCDVNIVVRPISNKPFARIVDIFEVEPSK
MCIASHSHAFATVSFTPQIMQNYQCIFEATLDGLPSTLAKSRGLVFDIAGEGNLPRVTVV
RPVLHNQYGNPLLLFKRLLLGHSEKLPLILKNNGVLPAQLHVDLQDELGVFSLKGRPTTA
YIYITEENKPHVKAKKAHTASLVVSPGDTAEFDVVFHSQKVGRMRGIIHLSVINNQYEET
SIHMVGEGYEDDITLDNIHGLVAPTSQEDISISEFTEIIEDNDMEDLVAAALVDHIQFGD
CHIGHSYNASFTVTNHSQVNLIRFEWPVSATIAFSPQMGHLHPGCAKDIVVTMKSDVPIN
LKNMRIRCKLSRIMFQLPADQVPDWDDRMHTVKWVDVPRNMPGTFTTKRKVIETDPEPAH
SVLEENYQELQLQISANVDFASYHCQARDVRFKETLVYQTRVFEFDVINSGRVQLEFSWV
SEDTSKAVSFAKPDHQGSAQKDQLSQGTMHTGSTLDSTMDHWAEGSPQPFSVEPSSGIVP
VGKIQKFKVKFSPLDIGDFESNLFCQIPNLPPGEQGPVLVAKGRSTLPICHFDLKDSDYI
SGHQRNPELRGSSGGALDPNTRVIEFTTVGIGGKNLRTFTILNPTNSTYSFCWISEEIES
LQNPAAFTCLTEKGFIHPEKKAEIVFQFTPFHLGITESSWTFLIPEHNITVPFLLVGKTT
EPLISLNKSHLNFSSLLIGREARETVQIINKEEQGFDFSFQDNSRYSEGFSNSLLVCPME
GWIPPLSRFPIDIFFTPKQEGDVNFNLICNVEKKVHPVTLNVKAEGYTMNVEIKCKDRTG
SITLLTPNQTNIINFYEVELNECVQCEFNFINTGKFTFSFQAQLCGSKTLLQYLEFSPID
STVDVGQSVHATLSFQPLKKCVLTDLELIIKISHGPTFMCNISGCAVSPAIHFSFTSYNF
GTCFIYQAGMPPYKQTLVITNKEETPMSIDCLYTNTTHLEVNSRVDVVKPGNTLEIPITF
YPRESINYQELIPFEINGLSQQTVEIKGKGTKMKILVLDPANRIVKLGAVLPGQVVKRTV
SIMNNSLAQLTFNQSILFTIPELQEPKVLTLAPFHNITLKPKEVCKLEVIFAPKKRVPPF
SEEVFMECMGLLRPLFLLSGCCQALEISLDQEHIPFGPVVYQTQATRRILMMNTGDVGAR
FKWDIKKFEPHFSISPEEGYITSGMEVSFEVTYHPTEVGKESLCKNILCYIQGGSPLSLT
LSGVCVGPPAVKEVVNFTCQVRSKHTQTILLSNRTNQTWNLHPIFEGEHWEGPEFITLEA
HQQNKPYEITYRPRTMNLENRKHQGTLFFPLPDGTGWLYALHGTSELPKAVANIYREVPC
KTPYTELLPITNWLNKPQRFRVIVEILKPEKPDLSITMKGLDYIDVLSGSKKDYKLNFFS
HKEGTYAAKVIFRNEVTNEFLYYNVSFRVIPSGIIKTIEMVTPVRQVASASIKLENPLPY
SVTFSTECRMPDIALPSQFVVPANSEGTFSFEFQPLKAGETFGRLTLHNTDLGYYQYELY
LKATPALPEKPVHFQTVLGSSQIILVKFINYTRQRTEYYCRTDCTDFHAEKLINAAPGGQ
GGTEASVEVLFEPSHLGETKGILILSSLAGGEYIIPLFGMALPPKPQGPFSIRAGYSIII
PFKNVFYHMVTFSIIVDNPAFTIRAGESVRPKKINNITVSFEGNPSGSKTPITTKLTVSC
PPGEGSETGVKWVYYLKGITL

Sequence length

5121

Interactions

View interactions

109

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Primary ciliary dyskinesia	Pathogenic	rs2143654921, rs760517494	RCV003448940 RCV003448943
Primary ciliary dyskinesia 5	Pathogenic; Likely pathogenic	rs2143778936, rs916834956, rs753701495, rs373140284, rs11337008, rs2507195850, rs1396390185, rs1270003368, rs2507830764, rs2507402547, rs2506960798, rs2507633880, rs2507345875, rs766668548, rs2507014327 View all (19 more)	RCV001783446 RCV001783448 RCV001782278 RCV001849892 RCV002472392 RCV003142326 RCV003149166 RCV003340724 RCV003886333 RCV003886334 RCV003886335 RCV003886336 RCV003886338 RCV003886341 RCV003886343 RCV003886344 RCV003886345 RCV003886346 RCV003886348 RCV003886349 RCV003886350 RCV003886351 RCV003886354 RCV003886355 RCV003886356 RCV003993520 RCV003991726 RCV004577259 RCV000032900 RCV000032901 RCV000055663 RCV001078456 RCV001090040 RCV001199277

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs3743953	RCV005898278
Cervical cancer	Likely benign	rs186768852	RCV005929429
Cholangiocarcinoma	Benign	rs3743953	RCV005898282
Clear cell carcinoma of kidney	Likely benign	rs186768852, rs183427172, rs140875580	RCV005929430 RCV005929432 RCV005929435
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2507130900	RCV004560317
Gastric cancer	Likely benign; Benign	rs140875580, rs3743953	RCV005929436 RCV005898279
HYDIN-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs761964937, rs116730273, rs552010840, rs747200458, rs113448164, rs529769407	RCV003902293 RCV003914130 RCV003939843 RCV003922181 RCV003918104 RCV004757282
Lung cancer	Benign	rs3743953	RCV005898283
Malignant tumor of urinary bladder	Uncertain significance	rs372194968	RCV005922496
Nonpapillary renal cell carcinoma	Likely benign	rs144124863	RCV005929437
Ovarian serous cystadenocarcinoma	Benign	rs3743953	RCV005898280
Sarcoma	Likely benign	rs186768852	RCV005929431
Thyroid cancer, nonmedullary, 1	Likely benign	rs183427172	RCV005929433
Uterine carcinosarcoma	Benign	rs3743953	RCV005898281
Uterine corpus endometrial carcinoma	Likely benign	rs183427172	RCV005929434

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	34531462
Asthenozoospermia	Associate	36742411
Autistic Disorder	Associate	23375656
Bronchial Diseases	Associate	36742411
Ciliary Motility Disorders	Associate	23022101, 25186273, 29467202, 32996775, 33635012, 36742411, 37998386, 38605126, 39180133
Colorectal Neoplasms	Associate	38492821
Congenital Abnormalities	Associate	36742411
Disease	Associate	36140829
Fused Kidney	Associate	40225938
Head and Neck Neoplasms	Associate	19029900
Heart Septal Defects Atrial	Associate	29505555
Hydrocephalus	Associate	19029900, 23022101, 28279197
Immotile cilia syndrome due to excessively long cilia	Associate	23022101
Immunologic Deficiency Syndromes	Associate	36742411
Infertility	Associate	35663320, 36742411
Infertility Male	Associate	36742411
Melanoma	Associate	37595251
Neoplasms	Associate	26212640
Non Muscle Invasive Bladder Neoplasms	Associate	39817975
Ocular Motility Disorders	Associate	36742411
Retinopathy of Prematurity	Associate	40084286
Transposition of Great Vessels	Associate	36140829
Virilism	Associate	35663320

HYDIN (HYDIN axonemal central pair apparatus protein)