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	147495
Gene name	APC down-regulated 1
Gene symbol	APCDD1
Synonyms (NCBI Gene)	B7323DRAPC1FP7019HHSHTSHYPT1
Chromosome	18
Chromosome location	18p11.22
Summary	This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq,

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs267606659	T>G	Pathogenic	Missense variant, coding sequence variant

100

Show/Hide all (100)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016559	hsa-miR-193b-3p	Microarray	20304954
MIRT633613	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT633612	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT633611	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT633610	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT633609	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT633608	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT633607	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT633606	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT633605	hsa-miR-1206	HITS-CLIP	23824327
MIRT633604	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT369626	hsa-miR-382-5p	PAR-CLIP	22100165
MIRT449840	hsa-miR-4453	PAR-CLIP	22100165
MIRT449839	hsa-miR-4538	PAR-CLIP	22100165
MIRT449838	hsa-miR-873-5p	PAR-CLIP	22100165
MIRT369632	hsa-miR-6124	PAR-CLIP	22100165
MIRT449837	hsa-miR-1207-5p	PAR-CLIP	22100165
MIRT449835	hsa-miR-4763-3p	PAR-CLIP	22100165
MIRT449836	hsa-miR-4736	PAR-CLIP	22100165
MIRT369634	hsa-miR-7150	PAR-CLIP	22100165
MIRT633613	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT633612	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT633611	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT633610	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT633609	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT633608	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT633607	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT633606	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT633605	hsa-miR-1206	HITS-CLIP	23824327
MIRT633604	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT369626	hsa-miR-382-5p	PAR-CLIP	22100165
MIRT449840	hsa-miR-4453	PAR-CLIP	22100165
MIRT449839	hsa-miR-4538	PAR-CLIP	22100165
MIRT449838	hsa-miR-873-5p	PAR-CLIP	22100165
MIRT369632	hsa-miR-6124	PAR-CLIP	22100165
MIRT449837	hsa-miR-1207-5p	PAR-CLIP	22100165
MIRT449835	hsa-miR-4763-3p	PAR-CLIP	22100165
MIRT449836	hsa-miR-4736	PAR-CLIP	22100165
MIRT369634	hsa-miR-7150	PAR-CLIP	22100165
MIRT789003	hsa-miR-106a	CLIP-seq
MIRT789004	hsa-miR-106b	CLIP-seq
MIRT789005	hsa-miR-1178	CLIP-seq
MIRT789006	hsa-miR-1256	CLIP-seq
MIRT789007	hsa-miR-1297	CLIP-seq
MIRT789008	hsa-miR-130a	CLIP-seq
MIRT789009	hsa-miR-130b	CLIP-seq
MIRT789010	hsa-miR-17	CLIP-seq
MIRT789011	hsa-miR-1972	CLIP-seq
MIRT789012	hsa-miR-20a	CLIP-seq
MIRT789013	hsa-miR-20b	CLIP-seq
MIRT789014	hsa-miR-2117	CLIP-seq
MIRT789015	hsa-miR-26a	CLIP-seq
MIRT789016	hsa-miR-26b	CLIP-seq
MIRT789017	hsa-miR-301a	CLIP-seq
MIRT789018	hsa-miR-301b	CLIP-seq
MIRT789019	hsa-miR-3128	CLIP-seq
MIRT789020	hsa-miR-326	CLIP-seq
MIRT789021	hsa-miR-330-5p	CLIP-seq
MIRT789022	hsa-miR-3609	CLIP-seq
MIRT789023	hsa-miR-3611	CLIP-seq
MIRT789024	hsa-miR-3666	CLIP-seq
MIRT789025	hsa-miR-3919	CLIP-seq
MIRT789026	hsa-miR-3929	CLIP-seq
MIRT789027	hsa-miR-4275	CLIP-seq
MIRT789028	hsa-miR-4277	CLIP-seq
MIRT789029	hsa-miR-4295	CLIP-seq
MIRT789030	hsa-miR-4419b	CLIP-seq
MIRT789031	hsa-miR-4422	CLIP-seq
MIRT789032	hsa-miR-4465	CLIP-seq
MIRT789033	hsa-miR-4478	CLIP-seq
MIRT789034	hsa-miR-452	CLIP-seq
MIRT789035	hsa-miR-454	CLIP-seq
MIRT789036	hsa-miR-4650-5p	CLIP-seq
MIRT789037	hsa-miR-4670-3p	CLIP-seq
MIRT789038	hsa-miR-4676-3p	CLIP-seq
MIRT789039	hsa-miR-4693-5p	CLIP-seq
MIRT789040	hsa-miR-4711-5p	CLIP-seq
MIRT789041	hsa-miR-4720-5p	CLIP-seq
MIRT789042	hsa-miR-4756-3p	CLIP-seq
MIRT789043	hsa-miR-4762-5p	CLIP-seq
MIRT789044	hsa-miR-4796-3p	CLIP-seq
MIRT789045	hsa-miR-4799-3p	CLIP-seq
MIRT789046	hsa-miR-519a	CLIP-seq
MIRT789047	hsa-miR-519b-3p	CLIP-seq
MIRT789048	hsa-miR-519c-3p	CLIP-seq
MIRT789049	hsa-miR-519d	CLIP-seq
MIRT789050	hsa-miR-548a-3p	CLIP-seq
MIRT789051	hsa-miR-548ah	CLIP-seq
MIRT789052	hsa-miR-548e	CLIP-seq
MIRT789053	hsa-miR-548f	CLIP-seq
MIRT789054	hsa-miR-626	CLIP-seq
MIRT789055	hsa-miR-93	CLIP-seq
MIRT789031	hsa-miR-4422	CLIP-seq
MIRT789043	hsa-miR-4762-5p	CLIP-seq
MIRT789050	hsa-miR-548a-3p	CLIP-seq
MIRT789052	hsa-miR-548e	CLIP-seq
MIRT789053	hsa-miR-548f	CLIP-seq
MIRT2172968	hsa-miR-4438	CLIP-seq
MIRT2172969	hsa-miR-607	CLIP-seq
MIRT2172970	hsa-miR-7	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001942	Process	Hair follicle development	IMP	20393562
GO:0005515	Function	Protein binding	IPI	20393562
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20393562
GO:0005886	Component	Plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0017147	Function	Wnt-protein binding	IBA
GO:0017147	Function	Wnt-protein binding	IDA	20393562
GO:0017147	Function	Wnt-protein binding	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IBA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IDA	20393562
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IEA
GO:0042487	Process	Regulation of odontogenesis of dentin-containing tooth	IEA
GO:0042802	Function	Identical protein binding	IPI	20393562
GO:0043615	Process	Astrocyte cell migration	IEA

MIM	HGNC	e!Ensembl
607479	15718	ENSG00000154856

Q8J025

Protein name

Protein APCDD1 (Adenomatosis polyposis coli down-regulated 1 protein)

Protein function

Negative regulator of the Wnt signaling pathway. Inhibits Wnt signaling in a cell-autonomous manner and functions upstream of beta-catenin. May act via its interaction with Wnt and LRP proteins. May play a role in colorectal tumorigenesis. {ECO:

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14921	APCDDC	51 → 282	Adenomatosis polyposis coli down-regulated 1	Domain
PF14921	APCDDC	284 → 473	Adenomatosis polyposis coli down-regulated 1	Domain

Tissue specificity

TISSUE SPECIFICITY: Abundantly expressed in heart, pancreas, prostate and ovary. Moderately expressed in lung, liver, kidney, spleen, thymus, colon and peripheral lymphocytes. Abundantly expressed in both the epidermal and dermal compartments of the hair

Sequence

MSWPRRLLLRYLFPALLLHGLGEGSALLHPDSRSHPRSLEKSAWRAFKESQCHHMLKHLH
NGARITVQMPPTIEGHWVSTGCEVRSGPEFITRSYRFYHNNTFKAYQFYYGSNRCTNPTY
TLIIRGKIRLRQASWIIRGGTEADYQLHNVQVICHTEAVAEKLGQQVNRTCPGFLADGGP
WVQDVAYDLWREENGCECTKAVNFAMHELQLIRVEKQYLHHNLDHLVEELFLGDIHTDAT
QRMFYRPSSYQPPLQNAKNHDHACIACRIIYRSDEHHPPILPPKADLTIGLHGEWVSQRC
EVRPEVLFLTRHFIFHDNNNTWEGHYYHYSDPVCKHPTFSIYARGRYSRGVLSSRVMGGT
EFVFKVNHMKVTPMDAATASLLNVFNGNECGAEGSWQVGIQQDVTHTNGCVALGIKLPHT
EYEIFKMEQDARGRYLLFNGQRPSDGSSPDRPEKRATSYQMPLVQCASSSPRAEDLAEDS
GSSLYGRAPGRHTWSLLLAALACLVPLLHWNIRR

Sequence length

514

Interactions

View interactions

	KEGG
	Wnt signaling pathway

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
Hypotrichosis 1	Pathogenic	rs267606659	RCV000003311	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (11)

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.
ALZHEIMER'S DISEASE NEUROPATHOLOGIC CHANGE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APCDD1-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS SIMPLEX	—	CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (36)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	40419521	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	31843691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	BEFREE	31064749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29085490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29567762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	25188731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	26474785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12384519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33673279	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	25887775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	30250238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30239058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30239058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31843691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPOTRICHOSIS 1	Hypotrichosis	UNIPROT_DG	20393562		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOTRICHOSIS 1	Hypotrichosis	GENOMICS_ENGLAND_DG	20393562, 22512811		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOTRICHOSIS 1	Hypotrichosis	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotrichosis simplex	Hypotrichosis simplex	BEFREE	19751230, 20393562, 28560711		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis simplex	Hypotrichosis simplex	CTD_human_DG	20393562		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis simplex	Hypotrichosis simplex	ORPHANET_DG	20393562		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis simplex	Hypotrichosis simplex	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	BEFREE	14770183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29085490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15517021, 24143229, 29082502, 29247824, 30212688, 30496486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12384519		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27827304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28242765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	27827304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	25946682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12384519, 19319136, 25887775, 29722338, 30496486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	28242765		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	29402254		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28698141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30250238		★★★★★ ★☆☆☆☆ Found in Text Mining only

APCDD1 (APC down-regulated 1)