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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3231
Gene name	Homeobox D1
Gene symbol	HOXD1
Synonyms (NCBI Gene)	HOX4HOX4GHox-4.7
Chromosome	2
Chromosome location	2q31.1
Summary	This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. This nuclear protein functions as a sequence-specific transcription factor that is involved in differentiation and limb development. Mutations in t

Show/Hide all (48)

miRTarBase ID	miRNA	Experiments	Reference
MIRT536762	hsa-miR-125b-5p	PAR-CLIP	22012620
MIRT536761	hsa-miR-125a-5p	PAR-CLIP	22012620
MIRT536760	hsa-miR-4319	PAR-CLIP	22012620
MIRT536759	hsa-miR-3617-5p	PAR-CLIP	22012620
MIRT536758	hsa-miR-641	PAR-CLIP	22012620
MIRT536757	hsa-miR-4719	PAR-CLIP	22012620
MIRT536756	hsa-miR-345-3p	PAR-CLIP	22012620
MIRT536755	hsa-miR-4732-3p	PAR-CLIP	22012620
MIRT536754	hsa-miR-670-5p	PAR-CLIP	22012620
MIRT536753	hsa-miR-3161	PAR-CLIP	22012620
MIRT439158	hsa-let-7c-5p	3'LIFE	25074381
MIRT439124	hsa-miR-10b-5p	3'LIFE	25074381
MIRT439158	hsa-let-7c-5p	3'LIFE	25074381
MIRT439124	hsa-miR-10b-5p	3'LIFE	25074381
MIRT536762	hsa-miR-125b-5p	PAR-CLIP	22012620
MIRT536761	hsa-miR-125a-5p	PAR-CLIP	22012620
MIRT536760	hsa-miR-4319	PAR-CLIP	22012620
MIRT536759	hsa-miR-3617-5p	PAR-CLIP	22012620
MIRT536758	hsa-miR-641	PAR-CLIP	22012620
MIRT536757	hsa-miR-4719	PAR-CLIP	22012620
MIRT536756	hsa-miR-345-3p	PAR-CLIP	22012620
MIRT536755	hsa-miR-4732-3p	PAR-CLIP	22012620
MIRT536754	hsa-miR-670-5p	PAR-CLIP	22012620
MIRT536753	hsa-miR-3161	PAR-CLIP	22012620
MIRT1053744	hsa-miR-1587	CLIP-seq
MIRT1053745	hsa-miR-15a	CLIP-seq
MIRT1053746	hsa-miR-15b	CLIP-seq
MIRT1053747	hsa-miR-16	CLIP-seq
MIRT1053748	hsa-miR-195	CLIP-seq
MIRT1053749	hsa-miR-3182	CLIP-seq
MIRT1053750	hsa-miR-3663-3p	CLIP-seq
MIRT1053751	hsa-miR-378g	CLIP-seq
MIRT1053752	hsa-miR-424	CLIP-seq
MIRT1053753	hsa-miR-4303	CLIP-seq
MIRT1053754	hsa-miR-4487	CLIP-seq
MIRT1053755	hsa-miR-4492	CLIP-seq
MIRT1053756	hsa-miR-4498	CLIP-seq
MIRT1053757	hsa-miR-4524	CLIP-seq
MIRT1053758	hsa-miR-4656	CLIP-seq
MIRT1053759	hsa-miR-4675	CLIP-seq
MIRT1053760	hsa-miR-4741	CLIP-seq
MIRT1053761	hsa-miR-497	CLIP-seq
MIRT1053762	hsa-miR-503	CLIP-seq
MIRT1053763	hsa-miR-512-3p	CLIP-seq
MIRT1053764	hsa-miR-646	CLIP-seq
MIRT1053765	hsa-miR-759	CLIP-seq
MIRT1053766	hsa-miR-762	CLIP-seq
MIRT1053767	hsa-miR-885-3p	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
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:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0019233	Process	Sensory perception of pain	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0048706	Process	Embryonic skeletal system development	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
142987	5132	ENSG00000128645

Q9GZZ0

Protein name

Homeobox protein Hox-D1 (Homeobox protein Hox-GG)

Protein function

Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	231 → 286	Homeodomain	Domain

Sequence

MSSYLEYVSCSSSGGVGGDVLSLAPKFCRSDARPVALQPAFPLGNGDGAFVSCLPLAAAR
PSPSPPAAPARPSVPPPAAPQYAQCTLEGAYEPGAAPAAAAGGADYGFLGSGPAYDFPGV
LGRAADDGGSHVHYATSAVFSGGGSFLLSGQVDYAAFGEPGPFPACLKASADGHPGAFQT
ASPAPGTYPKSVSPASGLPAAFSTFEWMKVKRNASKKGKLAEYGAASPSSAIRTNFSTKQ
LTELEKEFHFNKYLTRARRIEIANCLHLNDTQVKIWFQNRRMKQKKREREGLLATAIPVA
PLQLPLSGTTPTKFIKNPGSPSQSQEPS

Sequence length

328

Interactions

View interactions

	KEGG
	Signaling pathways regulating pluripotency of stem cells

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 Unknown Diseases (6)

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
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (19)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	22647880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22647880	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29262571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	17892325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	17892325		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36447287	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28951630	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22647880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	20852632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29262571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	7501971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	7501971	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	24236209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	39313491	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	20852632		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29262571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20852632	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36213580	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	37827698	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HOXD1 (homeobox D1)