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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	125336
Gene name Gene Name - the full gene name approved by the HGNC.	Lipoxygenase homology PLAT domains 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LOXHD1
Synonyms (NCBI Gene) Gene synonyms aliases	DFNB77, LH2D1
Chromosome Chromosome number	18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	18q21.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosen

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SNP ID	Visualize variation	Clinical significance	Consequence
rs61733519	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs75949023	G>A,T	Pathogenic, pathogenic-likely-pathogenic, benign	Stop gained, coding sequence variant, genic upstream transcript variant, synonymous variant
rs116413527	C>A,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs121918370	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs140437150	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, genic upstream transcript variant, coding sequence variant
rs141737883	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs182125538	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant
rs188119157	G>A,T	Pathogenic, likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant, synonymous variant, genic upstream transcript variant
rs192376005	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Upstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs200306249	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs201587138	G>A,C,T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, synonymous variant, genic upstream transcript variant, stop gained, coding sequence variant
rs367630521	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, intron variant, upstream transcript variant, coding sequence variant
rs368870055	C>A	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant, genic upstream transcript variant
rs369039902	G>A	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs369297699	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs373924055	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs373937326	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant, genic upstream transcript variant
rs375920647	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant
rs377368588	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, stop gained
rs527536011	G>A,T	Pathogenic	Synonymous variant, upstream transcript variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, coding sequence variant
rs528236655	G>A,C	Uncertain-significance, benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs533251927	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, genic upstream transcript variant
rs537227442	C>A,T	Likely-pathogenic, pathogenic	Splice donor variant, intron variant, upstream transcript variant, genic upstream transcript variant
rs539688337	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, genic upstream transcript variant
rs727503146	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs727505104	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, intron variant, upstream transcript variant
rs749182319	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs749861944	C>G,T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs764128579	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, upstream transcript variant
rs768835732	C>G,T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs867069460	C>A,G,T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs878853231	->C	Pathogenic	Coding sequence variant, frameshift variant
rs886042223	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs886043441	A>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs886043616	T>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs886044666	T>A	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs889110926	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs932266011	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs961865375	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, stop gained
rs1057524755	C>T	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1223508098	C>T	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant
rs1248889536	C>A,T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, stop gained
rs1306586204	G>A	Pathogenic	Coding sequence variant, stop gained
rs1409994676	->C	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1440105492	G>A,T	Pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, intron variant, coding sequence variant, stop gained
rs1468257550	->C	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1555679863	C>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, intron variant, upstream transcript variant, stop gained
rs1555680544	C>G	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1555681351	A>C	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1555683951	AG>-	Pathogenic	Genic upstream transcript variant, upstream transcript variant, frameshift variant, coding sequence variant
rs1598827107	C>T	Pathogenic	Coding sequence variant, stop gained
rs1598909510	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, upstream transcript variant
rs1598914701	->GA	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1599034650	C>T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs1599083635	G>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT050251	hsa-miR-25-3p	CLASH	23622248
MIRT1115363	hsa-miR-4691-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	19732867
GO:0032420	Component	Stereocilium	IBA
GO:0032420	Component	Stereocilium	IEA
GO:0032420	Component	Stereocilium	ISS
GO:0042995	Component	Cell projection	IEA

MIM	HGNC	e!Ensembl
613072	26521	ENSG00000167210

Protein

UniProt ID

Q8IVV2

Protein name

Lipoxygenase homology domain-containing protein 1

Protein function

Involved in hearing. Required for normal function of hair cells in the inner ear (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01477	PLAT	45 → 154	PLAT/LH2 domain	Domain
PF01477	PLAT	174 → 286	PLAT/LH2 domain	Domain
PF01477	PLAT	298 → 411	PLAT/LH2 domain	Domain
PF01477	PLAT	427 → 538	PLAT/LH2 domain	Domain
PF01477	PLAT	555 → 671	PLAT/LH2 domain	Domain
PF01477	PLAT	686 → 803	PLAT/LH2 domain	Domain
PF01477	PLAT	816 → 933	PLAT/LH2 domain	Domain
PF01477	PLAT	971 → 1086	PLAT/LH2 domain	Domain
PF01477	PLAT	1102 → 1225	PLAT/LH2 domain	Domain
PF01477	PLAT	1256 → 1372	PLAT/LH2 domain	Domain
PF01477	PLAT	1423 → 1539	PLAT/LH2 domain	Domain
PF01477	PLAT	1554 → 1664	PLAT/LH2 domain	Domain
PF01477	PLAT	1681 → 1796	PLAT/LH2 domain	Domain
PF01477	PLAT	1812 → 1928	PLAT/LH2 domain	Domain
PF01477	PLAT	1950 → 2060	PLAT/LH2 domain	Domain

Sequence

MMPQKKRRRKKDIDFLALYEAELLNYASEDDEGELEHEYYKARVYEVVTATGDVRGAGTD
ANVFITLFGENGLSPKLQLTSKSKSAFEKGNVDVFRVRTNNVGLIYKVRIEHDNTGLNAS
WYLDHVIVTDMKRPHLRYYFNCNNWLSKVEGDRQWCRDLLASFNPMDMPRGNKYEVKVYT
GDVIGAGTDADVFINIFGEYGDTGERRLENEKDNFEKGAEDRFILDAPDLGQLMKINVGH
NNKGGSAGWFLSQIVIEDIGNKRKYDFPLNRWLALDEDDGKIQRDILVGGAETTAITYIV
TVFTGDVRGAGTKSKIYLVMYGARGNKNSGKIFLEGGVFDRGRTDIFHIELAVLLSPLSR
VSVGHGNVGVNRGWFCEKVVILCPFTGIQQTFPCSNWLDEKKADGLIERQLYEMVSLRKK
RLKKFPWSLWVWTTDLKKAGTNSPIFIQIYGQKGRTDEILLNPNNKWFKPGIIEKFRIEL
PDLGRFYKIRVWHDKRSSGSGWHLERMTLMNTLNKDKYNFNCNRWLDANEDDNEIVREMT
AEGPTVRRIMGMARYHVTVCTGELEGAGTDANVYLCLFGDVGDTGERLLYNCRNNTDLFE
KGNADEFTIESVTMRNVRRVRIRHDGKGSGSGWYLDRVLVREEGQPESDNVEFPCLRWLD
KDKDDGQLVRELLPSDSSATLKNFRYHISLKTGDVSGASTDSRVYIKLYGDKSDTIKQVL
LVSDNNLKDYFERGRVDEFTLETLNIGNINRLVIGHDSTGMHASWFLGSVQIRVPRQGKQ
YTFPANRWLDKNQADGRLEVELYPSEVVEIQKLVHYEVEIWTGDVGGAGTSARVYMQIYG
EKGKTEVLFLSSRSKVFERASKDTFQTDTFTIYAIDLGALTKIRIRHDNTGNRAGWFLDR
IDITDMNNEITYYFPCQRWLAVEEDDGQLSRELLPVDESYVLPQSEEGRGGGDNNPLDNL
ALEQKDKSTTFSVTIKTGVKKNAGTDANVFITLFGTQDDTGMTLLKSSKTNSDKFERDSI
EIFTVETLDLGDLWKVRLGHDNTGKAPGWFVDWVEVDAPSLGKCMTFPCGRWLAKNEDDG
SIIRDLFHAELQTRLYTPFVPYEITLYTSDVFAAGTDANIFIIIYGCDAVCTQQKYLCTN
KREQKQFFERKSASRFIVELEDVGEIIEKIRIGHNNTGMNPGWHCSHVDIRRLLPDKDGA
ETLTFPCDRWLATSEDDKKTIRELVPYDIFTEKYMKDGSLRQVYKEVEEPLDIVLYSVQI
FTGNIPGAGTDAKVYITIYGDLGDTGERYLGKSENRTNKFERGTADTFIIEAADLGVIYK
IKLRHDNSKWCADWYVEKVEIWNDTNEDEFLFLCGRWLSLKKEDGRLERLFYEKEYTGDR
SSNCSSPADFWEIALSSKMADVDISTVTGPMADYVQEGPIIPYYVSVTTGKHKDAATDSR
AFIFLIGEDDERSKRIWLDYPRGKRGFSRGSVEEFYVAGLDVGIIKKIELGHDGASPESC
WLVEELCLAVPTQGTKYMLNCNCWLAKDRGDGITSRVFDLLDAMVVNIGVKVLYEMTVWT
GDVVGGGTDSNIFMTLYGINGSTEEMQLDKKKARFEREQNDTFIMEILDIAPFTKMRIRI
DGLGSRPEWFLERILLKNMNTGDLTMFYYGDWLSQRKGKKTLVCEMCAVIDEEEMMEWTS
YTVAVKTSDILGAGTDANVFIIIFGENGDSGTLALKQSANWNKFERNNTDTFNFPDMLSL
GHLCKLRVWHDNKGIFPGWHLSYVDVKDNSRDETFHFQCDCWLSKSEGDGQTVRDFACAN
NKICDELEETTYEIVIETGNGGETRENVWLILEGRKNRSKEFLMENSSRQRAFRKGTTDT
FEFDSIYLGDIASLCVGHLAREDRFIPKRELAWHVKTITITEMEYGNVYFFNCDCLIPLK
RKRKYFKVFEVTKTTESFASKVQSLVPVKYEVIVTTGYEPGAGTDANVFVTIFGANGDTG
KRELKQKMRNLFERGSTDRFFLETLELGELRKVRLEHDSSGYCSGWLVEKVEVTNTSTGV
ATIFNCGRWLDKKRGDGLTWRDLFPSV

Sequence length

2067

Interactions

View interactions

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Deafness	Autosomal recessive nonsyndromic hearing loss 77	rs749861944, rs2032939837, rs75949023, rs961865375, rs1248889536, rs1418245706, rs188119157, rs537227442, rs889110926, rs1306586204, rs1599083635, rs201587138, rs1555683951, rs1598914701, rs373937326 View all (13 more)	N/A
hearing impairment	Hearing impairment	rs188119157, rs537227442	N/A
Hearing Loss	Hearing loss, autosomal recessive	rs537227442	N/A
deafness	Deafness	rs1248889536, rs75949023	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Corneal Dystrophy	Fuchs' endothelial dystrophy	N/A	N/A	GenCC

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Age Related Hearing Impairment 1	Associate	34108613
Brain Neoplasms	Associate	29287594
Breast Neoplasms	Associate	29287594
Cardiomyopathies	Associate	33484326
Chromosome Aberrations	Associate	32149082
Cleft Palate	Associate	17564975
Deafness	Associate	22975204, 23226338, 25792669, 28900111, 30139988, 35062939
Deafness Autosomal Recessive 77	Associate	31547530
Diabetes Mellitus	Associate	33484326
Epilepsy	Associate	33484326
Exotropia	Associate	39773702
Fuchs' Endothelial Dystrophy	Associate	25548511, 27121161, 40244234
Hearing Loss	Associate	25792669, 30123251, 30760222, 31547530, 31709873, 32149082, 32682410, 32991204, 34753855, 35062939, 37438890
Hearing Loss Sensorineural	Associate	33484326
Mitochondrial Diseases	Associate	33484326
Mitochondrial encephalopathy	Associate	33484326
Neoplasms	Associate	35705030
Neoplastic Syndromes Hereditary	Associate	31547530
Nonsyndromic Deafness	Associate	23226338, 30123251, 32149082
Nonsyndromic sensorineural hearing loss	Associate	30760222
Nonsyndromic sensorineural hearing loss	Stimulate	30760222
Orofacial Cleft 1	Associate	17564975
Orofacial Cleft 11	Associate	17564975
Sarcoma Ewing	Associate	35705030
Seizures	Associate	33484326

LOXHD1 (lipoxygenase homology PLAT domains 1)