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	125336
Gene name	Lipoxygenase homology PLAT domains 1
Gene symbol	LOXHD1
Synonyms (NCBI Gene)	DFNB77LH2D1
Chromosome	18
Chromosome location	18q21.1
Summary	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

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

747

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic; Pathogenic	rs960741408, rs776345911, rs2144167172, rs1280052681, rs1463849219, rs770408532, rs1434725624, rs2143918072, rs35449699, rs184966970, rs2144134166, rs909435840, rs2143422217, rs2144243196, rs777587826 View all (91 more)	RCV001374669 RCV002476713 RCV001836386 RCV001826141 RCV005014513 RCV001826134 RCV002272469 RCV005614540 RCV005014534 RCV002298945 RCV005014549 RCV003155409 RCV001823294 RCV001580729 RCV001783608 RCV001808157 RCV001808267 RCV005614721 RCV005016911 RCV005016922 RCV003447613 RCV005025529 RCV003146410 RCV005014693 RCV005614719 RCV003155457 RCV002052089 RCV002052206 RCV000000426 RCV000381729 RCV000763029 RCV001277221 RCV002306524 RCV002306619 RCV002306637 RCV002306744 RCV002306753 RCV002309669 RCV002309899 RCV002310035 RCV002310041 RCV002307954 RCV002308339 RCV002308357 RCV002308370 RCV002309039 RCV002309093 RCV002309485 RCV002306946 RCV002306997 RCV002307001 RCV002310189 RCV002310220 RCV002310391 RCV002310505 RCV005028232 RCV005021614 RCV005019305 RCV003146649 RCV000225070 RCV003155582 RCV001651313 RCV001828241 RCV000338560 RCV005636957 RCV006261798 RCV005014793 RCV005014816 RCV005030188 RCV003989857 RCV005030253 RCV005015026 RCV005030351 RCV003885395 RCV004515800 RCV003991257 RCV004546881 RCV000023981 RCV005027603 RCV001834709 RCV005019014 RCV001783097 RCV001653947 RCV001277223 RCV005019094 RCV000670482 RCV000669718 RCV000778910 RCV000778532 RCV005614452 RCV001825559 RCV001004796 RCV001275167 RCV001832413 RCV005021417 RCV005021385 RCV001827436 RCV001827263 RCV003145288 RCV001089576 RCV002491703 RCV005029743 RCV005021514 RCV001833877 RCV001828862 RCV001828818 RCV001261866 RCV001261865 RCV001280497
Deafness	Likely pathogenic; Pathogenic	rs75949023, rs1248889536	RCV004798747 RCV000520304
Hearing impairment	Likely pathogenic; Pathogenic	rs1598827506, rs776345911, rs1289895910, rs537227442, rs188119157	RCV001375174 RCV001375173 RCV001375256 RCV001375172 RCV001375153
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs537227442	RCV000627051
LOXHD1-related disorder	Pathogenic; Likely pathogenic	rs931911802, rs121918370, rs201587138, rs886043616, rs886044666, rs774921125, rs75949023, rs537227442	RCV003911131 RCV003398397 RCV004751298 RCV004751436 RCV004751448 RCV003408617 RCV004751222 RCV004751638
Nonsyndromic genetic hearing loss	Pathogenic; Likely pathogenic	rs1166673793, rs974766727, rs201587138, rs2511924769, rs759837659, rs1177885503, rs775711191, rs763915229, rs1555679863, rs770258999	RCV003235570 RCV003226471 RCV001544522 RCV002308523 RCV002510265 RCV003155489 RCV003489570 RCV003155248 RCV003226336 RCV005432551
Rare genetic deafness	Likely pathogenic; Pathogenic	rs2144321916, rs201587138, rs373937326, rs727503146, rs727505104, rs75949023, rs1555683951, rs1555681351, rs1555679863, rs961865375, rs188119157	RCV001449809 RCV000155144 RCV000150972 RCV000150981 RCV000156553 RCV000211793 RCV001449810 RCV000608703 RCV000609249 RCV000825566 RCV000041202

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs77028433	RCV005925141
concomitant exotropia	Conflicting classifications of pathogenicity	rs148468627	RCV004730885
Lung cancer	Benign	rs328145	RCV005919406
Malignant tumor of esophagus	Likely benign; Benign; Conflicting classifications of pathogenicity	rs187969046, rs77028433, rs35727744	RCV005911517 RCV005925142 RCV005890228
Nonpapillary renal cell carcinoma	Likely benign	rs727503141	RCV005888333
Ovarian serous cystadenocarcinoma	Likely benign	rs1457228862	RCV005921122
Stickler syndrome	Conflicting classifications of pathogenicity	rs754651566	RCV001375237
Uterine corpus endometrial carcinoma	Benign	rs77028433	RCV005925143
Variant of unknown significance	Uncertain significance	rs113444922	RCV000023982
VATER association	Conflicting classifications of pathogenicity	rs201060702	RCV005625337

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)