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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7062
Gene name	Trichohyalin
Gene symbol	TCHH
Synonyms (NCBI Gene)	THHTHLTRHYUHS3
Chromosome	1
Chromosome location	1q21.3
Summary	The protein encoded by this gene forms crosslinked complexes with itself and keratin intermediate filaments to provide mechanical strength to the hair follicle inner root sheath. The encoded protein also is important for structural integrity of the filifo

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SNP ID	Visualize variation	Clinical significance	Consequence
rs201930497	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, stop gained

Show/Hide all (90)

miRTarBase ID	miRNA	Experiments
MIRT1416571	hsa-miR-1224-5p	CLIP-seq
MIRT1416572	hsa-miR-1260	CLIP-seq
MIRT1416573	hsa-miR-1260b	CLIP-seq
MIRT1416574	hsa-miR-128	CLIP-seq
MIRT1416575	hsa-miR-188-3p	CLIP-seq
MIRT1416576	hsa-miR-27a	CLIP-seq
MIRT1416577	hsa-miR-27b	CLIP-seq
MIRT1416578	hsa-miR-3074-3p	CLIP-seq
MIRT1416579	hsa-miR-3145-3p	CLIP-seq
MIRT1416580	hsa-miR-3156-3p	CLIP-seq
MIRT1416581	hsa-miR-361-5p	CLIP-seq
MIRT1416582	hsa-miR-3646	CLIP-seq
MIRT1416583	hsa-miR-3915	CLIP-seq
MIRT1416584	hsa-miR-3919	CLIP-seq
MIRT1416585	hsa-miR-3928	CLIP-seq
MIRT1416586	hsa-miR-4282	CLIP-seq
MIRT1416587	hsa-miR-4328	CLIP-seq
MIRT1416588	hsa-miR-4446-5p	CLIP-seq
MIRT1416589	hsa-miR-4477a	CLIP-seq
MIRT1416590	hsa-miR-455-3p	CLIP-seq
MIRT1416591	hsa-miR-4659a-3p	CLIP-seq
MIRT1416592	hsa-miR-4659b-3p	CLIP-seq
MIRT1416593	hsa-miR-4689	CLIP-seq
MIRT1416594	hsa-miR-4756-3p	CLIP-seq
MIRT1416595	hsa-miR-4775	CLIP-seq
MIRT1416596	hsa-miR-5096	CLIP-seq
MIRT1416597	hsa-miR-513a-3p	CLIP-seq
MIRT1416598	hsa-miR-513a-5p	CLIP-seq
MIRT1416599	hsa-miR-590-3p	CLIP-seq
MIRT1416600	hsa-miR-889	CLIP-seq
MIRT1416601	hsa-miR-944	CLIP-seq
MIRT2124923	hsa-miR-330-3p	CLIP-seq
MIRT2124924	hsa-miR-4799-5p	CLIP-seq
MIRT1416572	hsa-miR-1260	CLIP-seq
MIRT1416573	hsa-miR-1260b	CLIP-seq
MIRT1416575	hsa-miR-188-3p	CLIP-seq
MIRT1416580	hsa-miR-3156-3p	CLIP-seq
MIRT2347346	hsa-miR-3612	CLIP-seq
MIRT2347347	hsa-miR-4443	CLIP-seq
MIRT1416588	hsa-miR-4446-5p	CLIP-seq
MIRT2347348	hsa-miR-494	CLIP-seq
MIRT2347349	hsa-miR-650	CLIP-seq
MIRT2461251	hsa-miR-106a	CLIP-seq
MIRT2461252	hsa-miR-106b	CLIP-seq
MIRT2461253	hsa-miR-17	CLIP-seq
MIRT2461254	hsa-miR-20a	CLIP-seq
MIRT2461255	hsa-miR-20b	CLIP-seq
MIRT2461256	hsa-miR-298	CLIP-seq
MIRT2461257	hsa-miR-519d	CLIP-seq
MIRT2461258	hsa-miR-520d-5p	CLIP-seq
MIRT2461259	hsa-miR-520g	CLIP-seq
MIRT2461260	hsa-miR-520h	CLIP-seq
MIRT2461261	hsa-miR-524-5p	CLIP-seq
MIRT2461262	hsa-miR-93	CLIP-seq
MIRT2461251	hsa-miR-106a	CLIP-seq
MIRT2461252	hsa-miR-106b	CLIP-seq
MIRT2461253	hsa-miR-17	CLIP-seq
MIRT2461254	hsa-miR-20a	CLIP-seq
MIRT2461255	hsa-miR-20b	CLIP-seq
MIRT2461256	hsa-miR-298	CLIP-seq
MIRT2461257	hsa-miR-519d	CLIP-seq
MIRT2461258	hsa-miR-520d-5p	CLIP-seq
MIRT2461259	hsa-miR-520g	CLIP-seq
MIRT2461260	hsa-miR-520h	CLIP-seq
MIRT2461261	hsa-miR-524-5p	CLIP-seq
MIRT2461262	hsa-miR-93	CLIP-seq
MIRT2461251	hsa-miR-106a	CLIP-seq
MIRT2461252	hsa-miR-106b	CLIP-seq
MIRT2461253	hsa-miR-17	CLIP-seq
MIRT2461254	hsa-miR-20a	CLIP-seq
MIRT2461255	hsa-miR-20b	CLIP-seq
MIRT2461256	hsa-miR-298	CLIP-seq
MIRT2461257	hsa-miR-519d	CLIP-seq
MIRT2461258	hsa-miR-520d-5p	CLIP-seq
MIRT2461259	hsa-miR-520g	CLIP-seq
MIRT2461260	hsa-miR-520h	CLIP-seq
MIRT2461261	hsa-miR-524-5p	CLIP-seq
MIRT2461262	hsa-miR-93	CLIP-seq
MIRT2461251	hsa-miR-106a	CLIP-seq
MIRT2461252	hsa-miR-106b	CLIP-seq
MIRT2461253	hsa-miR-17	CLIP-seq
MIRT2461254	hsa-miR-20a	CLIP-seq
MIRT2461255	hsa-miR-20b	CLIP-seq
MIRT2461256	hsa-miR-298	CLIP-seq
MIRT2461257	hsa-miR-519d	CLIP-seq
MIRT2461258	hsa-miR-520d-5p	CLIP-seq
MIRT2461259	hsa-miR-520g	CLIP-seq
MIRT2461260	hsa-miR-520h	CLIP-seq
MIRT2461261	hsa-miR-524-5p	CLIP-seq
MIRT2461262	hsa-miR-93	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	TAS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	TAS	7685034
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	NAS	7686953
GO:0031424	Process	Keratinization	IEA
GO:0045109	Process	Intermediate filament organization	IBA
GO:0045109	Process	Intermediate filament organization	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046914	Function	Transition metal ion binding	IEA

MIM	HGNC	e!Ensembl
190370	11791	ENSG00000159450

Q07283

Protein name

Trichohyalin

Protein function

Intermediate filament-associated protein that associates in regular arrays with keratin intermediate filaments (KIF) of the inner root sheath cells of the hair follicle and the granular layer of the epidermis. It later becomes cross-linked to KI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01023	S_100	4 → 46	S-100/ICaBP type calcium binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Found in the hard keratinizing tissues such as the inner root sheath (IRS) of hair follicles and medulla, and in the filiform papillae of dorsal tongue epithelium.

Sequence

MSPLLRSICDITEIFNQYVSHDCDGAALTKKDLKNLLEREFGAVLRRPHDPKTVDLILEL
LDLDSNGRVDFNEFLLFIFKVAQACYYALGQATGLDEEKRARCDGKESLLQDRRQEEDQR
RFEPRDRQLEEEPGQRRRQKRQEQERELAEGEEQSEKQERLEQRDRQRRDEELWRQRQEW
QEREERRAEEEQLQSCKGHETEEFPDEEQLRRRELLELRRKGREEKQQQRRERQDRVFQE
EEEKEWRKRETVLRKEEEKLQEEEPQRQRELQEEEEQLRKLERQELRRERQEEEQQQQRL
RREQQLRRKQEEERREQQEERREQQERREQQEERREQQLRREQEERREQQLRREQEEERR
EQQLRREQEEERREQQLRREQQLRREQQLRREQQLRREQQLRREQQLRREQQLRREQQLR
REQQLRREQEEERHEQKHEQERREQRLKREQEERRDWLKREEETERHEQERRKQQLKRDQ
EEERRERWLKLEEEERREQQERREQQLRREQEERREQRLKRQEEEERLQQRLRSEQQLRR
EQEERREQLLKREEEKRLEQERREQRLKREQEERRDQLLKREEERRQQRLKREQEERLEQ
RLKREEVERLEQEERREQRLKREEPEEERRQQLLKSEEQEERRQQQLRREQQERREQRLK
REEEEERLEQRLKREHEEERREQELAEEEQEQARERIKSRIPKWQWQLESEADARQSKVY
SRPRKQEGQRRRQEQEEKRRRRESELQWQEEERAHRQQQEEEQRRDFTWQWQAEEKSERG
RQRLSARPPLREQRERQLRAEERQQREQRFLPEEEEKEQRRRQRREREKELQFLEEEEQL
QRRERAQQLQEEEDGLQEDQERRRSQEQRRDQKWRWQLEEERKRRRHTLYAKPALQEQLR
KEQQLLQEEEEELQREEREKRRRQEQERQYREEEQLQQEEEQLLREEREKRRRQERERQY
RKDKKLQQKEEQLLGEEPEKRRRQEREKKYREEEELQQEEEQLLREEREKRRRQEWERQY
RKKDELQQEEEQLLREEREKRRLQERERQYREEEELQQEEEQLLGEERETRRRQELERQY
RKEEELQQEEEQLLREEPEKRRRQERERQCREEEELQQEEEQLLREEREKRRRQELERQY
REEEEVQQEEEQLLREEPEKRRRQELERQYREEEELQQEEEQLLREEQEKRRQERERQYR
EEEELQRQKRKQRYRDEDQRSDLKWQWEPEKENAVRDNKVYCKGRENEQFRQLEDSQLRD
RQSQQDLQHLLGEQQERDREQERRRWQQRDRHFPEEEQLEREEQKEAKRRDRKSQEEKQL
LREEREEKRRRQETDRKFREEEQLLQEREEQPLRRQERDRKFREEELRHQEQGRKFLEEE
QRLRRQERERKFLKEEQQLRCQEREQQLRQDRDRKFREEEQQLSRQERDRKFREEEQQVR
RQERERKFLEEEQQLRQERHRKFREEEQLLQEREEQQLHRQERDRKFLEEEQQLRRQERD
RKFREQELRSQEPERKFLEEEQQLHRQQRQRKFLQEEQQLRRQERGQQRRQDRDRKFREE
EQLRQEREEQQLSRQERDRKFRLEEQKVRRQEQERKFMEDEQQLRRQEGQQQLRQERDRK
FREDEQLLQEREEQQLHRQERDRKFLEEEPQLRRQEREQQLRHDRDRKFREEEQLLQEGE
EQQLRRQERDRKFREEEQQLRRQERERKFLQEEQQLRRQELERKFREEEQLRQETEQEQL
RRQERYRKILEEEQLRPEREEQQLRRQERDRKFREEEQLRQEREEQQLRSQESDRKFREE
EQLRQEREEQQLRPQQRDGKYRWEEEQLQLEEQEQRLRQERDRQYRAEEQFATQEKSRRE
EQELWQEEEQKRRQERERKLREEHIRRQQKEEQRHRQVGEIKSQEGKGHGRLLEPGTHQF
ASVPVRSSPLYEYIQEQRSQYRP

Sequence length

1943

Interactions

View interactions

	Reactome
			Formation of the cornified envelope

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Uncombable hair syndrome 3	Likely pathogenic	rs770198909, rs201930497	RCV003231030 RCV000415562	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNCOMBABLE HAIR SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	23573328		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	GWASDB_DG	23886662		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	8850037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysplastic Nevus	Dysplastic Nevus	BEFREE	27377700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	Pubtator	10211889	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	29557511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	11592372	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	23573328, 25916698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	9867130	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29989509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pilomatrixoma	Pilomatrixoma	BEFREE	8734653		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	BEFREE	31813891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	8734653		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uncombable hair syndrome	Uncombable Hair Syndrome	BEFREE	27866708		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uncombable hair syndrome	Uncombable hair syndrome	Pubtator	35751533, 36044230	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uncombable hair syndrome	Uncombable Hair Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNCOMBABLE HAIR SYNDROME 3	Uncombable Hair Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

TCHH (trichohyalin)