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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	3229
Gene name	Homeobox C13
Gene symbol	HOXC13
Synonyms (NCBI Gene)	ECTD9HOX3HOX3G
Chromosome	12
Chromosome location	12q13.13
Summary	This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene cluster

Show/Hide all (81)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004974	hsa-miR-31-5p	Luciferase reporter assayqRT-PCR	19524507
MIRT039788	hsa-miR-615-3p	CLASH	23622248
MIRT462052	hsa-miR-548m	PAR-CLIP	23592263
MIRT462051	hsa-miR-595	PAR-CLIP	23592263
MIRT462050	hsa-miR-545-5p	PAR-CLIP	23592263
MIRT462049	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT462048	hsa-miR-4784	PAR-CLIP	23592263
MIRT462047	hsa-miR-4316	PAR-CLIP	23592263
MIRT462046	hsa-miR-1294	PAR-CLIP	23592263
MIRT462045	hsa-miR-4689	PAR-CLIP	23592263
MIRT462044	hsa-miR-6858-5p	PAR-CLIP	23592263
MIRT462052	hsa-miR-548m	PAR-CLIP	23592263
MIRT462051	hsa-miR-595	PAR-CLIP	23592263
MIRT462050	hsa-miR-545-5p	PAR-CLIP	23592263
MIRT462049	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT462048	hsa-miR-4784	PAR-CLIP	23592263
MIRT462047	hsa-miR-4316	PAR-CLIP	23592263
MIRT462046	hsa-miR-1294	PAR-CLIP	23592263
MIRT462045	hsa-miR-4689	PAR-CLIP	23592263
MIRT462044	hsa-miR-6858-5p	PAR-CLIP	23592263
MIRT1053590	hsa-miR-31	CLIP-seq
MIRT1053591	hsa-miR-3128	CLIP-seq
MIRT1053592	hsa-miR-339-3p	CLIP-seq
MIRT1053593	hsa-miR-4715-3p	CLIP-seq
MIRT1053594	hsa-miR-4720-5p	CLIP-seq
MIRT1053595	hsa-miR-4761-5p	CLIP-seq
MIRT1053596	hsa-miR-4792	CLIP-seq
MIRT1053597	hsa-miR-4799-3p	CLIP-seq
MIRT1053598	hsa-miR-499a-5p	CLIP-seq
MIRT2012165	hsa-miR-1224-5p	CLIP-seq
MIRT2012166	hsa-miR-1304	CLIP-seq
MIRT2012167	hsa-miR-1827	CLIP-seq
MIRT2012168	hsa-miR-296-5p	CLIP-seq
MIRT2012169	hsa-miR-29a	CLIP-seq
MIRT2012170	hsa-miR-29b	CLIP-seq
MIRT2012171	hsa-miR-29c	CLIP-seq
MIRT2012172	hsa-miR-3065-3p	CLIP-seq
MIRT2012173	hsa-miR-3202	CLIP-seq
MIRT2012174	hsa-miR-3612	CLIP-seq
MIRT2012175	hsa-miR-3915	CLIP-seq
MIRT1053593	hsa-miR-4715-3p	CLIP-seq
MIRT2012176	hsa-miR-4747-5p	CLIP-seq
MIRT1053595	hsa-miR-4761-5p	CLIP-seq
MIRT1053598	hsa-miR-499a-5p	CLIP-seq
MIRT2012177	hsa-miR-501-3p	CLIP-seq
MIRT2012178	hsa-miR-502-3p	CLIP-seq
MIRT2012179	hsa-miR-650	CLIP-seq
MIRT2012180	hsa-miR-767-5p	CLIP-seq
MIRT2244538	hsa-miR-1324	CLIP-seq
MIRT2244539	hsa-miR-3124-3p	CLIP-seq
MIRT2244540	hsa-miR-3136-5p	CLIP-seq
MIRT2244541	hsa-miR-3913-3p	CLIP-seq
MIRT2244542	hsa-miR-4439	CLIP-seq
MIRT2244543	hsa-miR-4450	CLIP-seq
MIRT2244544	hsa-miR-4667-5p	CLIP-seq
MIRT2244545	hsa-miR-4700-5p	CLIP-seq
MIRT2244546	hsa-miR-4731-3p	CLIP-seq
MIRT2244547	hsa-miR-4731-5p	CLIP-seq
MIRT2244548	hsa-miR-4801	CLIP-seq
MIRT2244549	hsa-miR-499-3p	CLIP-seq
MIRT2244550	hsa-miR-499a-3p	CLIP-seq
MIRT2244551	hsa-miR-616	CLIP-seq
MIRT2244552	hsa-miR-943	CLIP-seq
MIRT2389132	hsa-miR-3182	CLIP-seq
MIRT2389133	hsa-miR-3686	CLIP-seq
MIRT2389134	hsa-miR-3690	CLIP-seq
MIRT2389135	hsa-miR-378	CLIP-seq
MIRT2389136	hsa-miR-378b	CLIP-seq
MIRT2389137	hsa-miR-378c	CLIP-seq
MIRT2389138	hsa-miR-378d	CLIP-seq
MIRT2389139	hsa-miR-378e	CLIP-seq
MIRT2389140	hsa-miR-378f	CLIP-seq
MIRT2389141	hsa-miR-378h	CLIP-seq
MIRT2389142	hsa-miR-378i	CLIP-seq
MIRT2389143	hsa-miR-422a	CLIP-seq
MIRT2389144	hsa-miR-619	CLIP-seq
MIRT2451345	hsa-miR-185	CLIP-seq
MIRT2451346	hsa-miR-4306	CLIP-seq
MIRT2451347	hsa-miR-4644	CLIP-seq
MIRT2244546	hsa-miR-4731-3p	CLIP-seq
MIRT2244548	hsa-miR-4801	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IMP	27506447
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001942	Process	Hair follicle development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	27506447
GO:0005515	Function	Protein binding	IPI	18692240, 25609649
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	10835276
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0035878	Process	Nail development	IEA
GO:0043587	Process	Tongue morphogenesis	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	27506447
GO:0045893	Process	Positive regulation of DNA-templated transcription	IGI	27506447
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	27506447
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
142976	5125	ENSG00000123364

P31276

Protein name

Homeobox protein Hox-C13 (Homeobox protein Hox-3G)

Protein function

Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair-specific genes (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12284	HoxA13_N	54 → 168	Hox protein A13 N terminal	Family
PF00046	Homeodomain	261 → 317	Homeodomain	Domain

Sequence

MTTSLLLHPRWPESLMYVYEDSAAESGIGGGGGGGGGGTGGAGGGCSGASPGKAPSMDGL
GSSCPASHCRDLLPHPVLGRPPAPLGAPQGAVYTDIPAPEAARQCAPPPAPPTSSSATLG
YGYPFGGSYYGCRLSHNVNLQQKPCAYHPGDKYPEPSGALPGDDLSSRAKEFAFYPSFAS
SYQAMPGYLDVSVVPGISGHPEPRHDALIPVEGYQHWALSNGWDSQVYCSKEQSQSAHLW
KSPFPDVVPLQPEVSSYRRGRKKRVPYTKVQLKELEKEYAASKFITKEKRRRISATTNLS
ERQVTIWFQNRRVKEKKVVSKSKAPHLHST

Sequence length

330

Interactions

View interactions

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
Ectodermal dysplasia 9, hair/nail type	Pathogenic	rs398122913, rs398122377	RCV000033003 RCV000043557	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

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.
ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOXC13-related disorder	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (46)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	19665070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28979806		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	12619167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrichia	Atrichia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31539123	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37442189	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	29842876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	31040073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30884206		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30541551, 30884206, 38378070	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypotrichia	Congenital Hypotrichia	BEFREE	28011715, 30125135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	BEFREE	28011715, 30125135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	23063621, 23315978, 28011715, 28297138, 28403827, 30125135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE	Ectodermal dysplasia	UNIPROT_DG	23063621, 28297138		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE	Ectodermal dysplasia	GENOMICS_ENGLAND_DG	23063621		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE	Ectodermal dysplasia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE	Ectodermal dysplasia	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal Dysplasia, Pure Hair-Nail Type	Ectodermal Dysplasia	ORPHANET_DG	23063621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia, Pure Hair-Nail Type	Ectodermal Dysplasia	CTD_human_DG	24239177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	39596630	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	30347268	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	1971215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	BEFREE	28011715, 30125135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19922474	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12461755, 12619167, 19665070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	28433800		★★★★★ ★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	24085196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	24085196	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30541551	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31539123	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12619167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30884206		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	22583695	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30541551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34134622	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27966447, 38057852	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pure hair and nail ectodermal dysplasia	Ectodermal dysplasia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29168599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24076275, 24519855, 31391008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32176636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	24189220	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	16803519, 34564982, 36833285	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HOXC13 (homeobox C13)