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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	56521
Gene name	DnaJ heat shock protein family (Hsp40) member C12
Gene symbol	DNAJC12
Synonyms (NCBI Gene)	HPANBH4JDP1
Chromosome	10
Chromosome location	10q21.3
Summary	This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for th

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SNP ID	Visualize variation	Clinical significance	Consequence
rs569240271	G>A,T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, synonymous variant
rs761235755	T>A,C	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, stop gained
rs770562664	G>-	Pathogenic	Intron variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs775029664	T>A	Pathogenic	Splice acceptor variant
rs1035794099	C>G,T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1273776043	C>A	Pathogenic	Stop lost, genic downstream transcript variant, terminator codon variant
rs1277990552	T>C	Pathogenic	Intron variant, splice acceptor variant, genic upstream transcript variant
rs1589052989	CC>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant

Show/Hide all (74)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029258	hsa-miR-26b-5p	Microarray	19088304
MIRT940514	hsa-miR-103a	CLIP-seq
MIRT940515	hsa-miR-107	CLIP-seq
MIRT940516	hsa-miR-1246	CLIP-seq
MIRT940517	hsa-miR-1278	CLIP-seq
MIRT940518	hsa-miR-128	CLIP-seq
MIRT940519	hsa-miR-1290	CLIP-seq
MIRT940520	hsa-miR-129-5p	CLIP-seq
MIRT940521	hsa-miR-1324	CLIP-seq
MIRT940522	hsa-miR-144	CLIP-seq
MIRT940523	hsa-miR-217	CLIP-seq
MIRT940524	hsa-miR-224	CLIP-seq
MIRT940525	hsa-miR-23a	CLIP-seq
MIRT940526	hsa-miR-23b	CLIP-seq
MIRT940527	hsa-miR-23c	CLIP-seq
MIRT940528	hsa-miR-27a	CLIP-seq
MIRT940529	hsa-miR-27b	CLIP-seq
MIRT940530	hsa-miR-3140-3p	CLIP-seq
MIRT940531	hsa-miR-3167	CLIP-seq
MIRT940532	hsa-miR-3182	CLIP-seq
MIRT940533	hsa-miR-34c-3p	CLIP-seq
MIRT940534	hsa-miR-3976	CLIP-seq
MIRT940535	hsa-miR-4289	CLIP-seq
MIRT940536	hsa-miR-4427	CLIP-seq
MIRT940537	hsa-miR-4680-3p	CLIP-seq
MIRT940538	hsa-miR-4756-3p	CLIP-seq
MIRT940539	hsa-miR-4760-3p	CLIP-seq
MIRT940540	hsa-miR-4781-3p	CLIP-seq
MIRT940541	hsa-miR-4797-5p	CLIP-seq
MIRT940542	hsa-miR-510	CLIP-seq
MIRT940543	hsa-miR-512-5p	CLIP-seq
MIRT940544	hsa-miR-513a-5p	CLIP-seq
MIRT940545	hsa-miR-545	CLIP-seq
MIRT940546	hsa-miR-555	CLIP-seq
MIRT940547	hsa-miR-570	CLIP-seq
MIRT940548	hsa-miR-876-5p	CLIP-seq
MIRT940549	hsa-miR-885-3p	CLIP-seq
MIRT940532	hsa-miR-3182	CLIP-seq
MIRT940536	hsa-miR-4427	CLIP-seq
MIRT940537	hsa-miR-4680-3p	CLIP-seq
MIRT940539	hsa-miR-4760-3p	CLIP-seq
MIRT1920403	hsa-miR-7	CLIP-seq
MIRT940532	hsa-miR-3182	CLIP-seq
MIRT940536	hsa-miR-4427	CLIP-seq
MIRT940537	hsa-miR-4680-3p	CLIP-seq
MIRT940539	hsa-miR-4760-3p	CLIP-seq
MIRT1920403	hsa-miR-7	CLIP-seq
MIRT940532	hsa-miR-3182	CLIP-seq
MIRT940536	hsa-miR-4427	CLIP-seq
MIRT940537	hsa-miR-4680-3p	CLIP-seq
MIRT940539	hsa-miR-4760-3p	CLIP-seq
MIRT1920403	hsa-miR-7	CLIP-seq
MIRT940518	hsa-miR-128	CLIP-seq
MIRT940520	hsa-miR-129-5p	CLIP-seq
MIRT940521	hsa-miR-1324	CLIP-seq
MIRT940522	hsa-miR-144	CLIP-seq
MIRT940523	hsa-miR-217	CLIP-seq
MIRT940524	hsa-miR-224	CLIP-seq
MIRT940525	hsa-miR-23a	CLIP-seq
MIRT940526	hsa-miR-23b	CLIP-seq
MIRT940527	hsa-miR-23c	CLIP-seq
MIRT940528	hsa-miR-27a	CLIP-seq
MIRT940529	hsa-miR-27b	CLIP-seq
MIRT940533	hsa-miR-34c-3p	CLIP-seq
MIRT940534	hsa-miR-3976	CLIP-seq
MIRT1978145	hsa-miR-4286	CLIP-seq
MIRT940535	hsa-miR-4289	CLIP-seq
MIRT940540	hsa-miR-4781-3p	CLIP-seq
MIRT940546	hsa-miR-555	CLIP-seq
MIRT940547	hsa-miR-570	CLIP-seq
MIRT940528	hsa-miR-27a	CLIP-seq
MIRT940529	hsa-miR-27b	CLIP-seq
MIRT2679331	hsa-miR-4522	CLIP-seq
MIRT940537	hsa-miR-4680-3p	CLIP-seq

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Transcription factor	Regulation	Reference
CREB3L4	Unknown	24122553

Show/Hide all (4)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	24122553, 28514442, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	24122553
GO:0005737	Component	Cytoplasm	IEA

MIM	HGNC	e!Ensembl
606060	28908	ENSG00000108176

Q9UKB3

Protein name

DnaJ homolog subfamily C member 12 (J domain-containing protein 1)

Protein function

Probable co-chaperone that participates in the proper folding of biopterin-dependent aromatic amino acid hydroxylases, which include phenylalanine-4-hydroxylase (PAH), tyrosine 3-monooxygenase (TH) and peripheral and neuronal tryptophan hydroxyl

PDB

2CTQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00226	DnaJ	14 → 76	DnaJ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at high levels in brain, heart, and testis, and at reduced levels in kidney and stomach.

Sequence

MDAILNYRSEDTEDYYTLLGCDELSSVEQILAEFKVRALECHPDKHPENPKAVETFQKLQ
KAKEILTNEESRARYDHWRRSQMSMPFQQWEALNDSVKTSMHWVVRGKKDLMLEESDKTH
TTKMENEECNEQRERKKEELASTAEKTEQKEPKPLEKSVSPQNSDSSGFADVNGWHLRFR
WSKDAPSELLRKFRNYEI

Sequence length

198

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
DNAJC12-related disorder	Pathogenic	rs370032864	RCV003396740	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperphenylalaninemia due to DNAJC12 deficiency	Likely pathogenic; Pathogenic	rs1443792358, rs1035794099, rs775029664, rs1589052989, rs770562664, rs1273776043, rs569240271, rs761235755, rs1277990552, rs370032864, rs1841794635, rs755829473, rs1841794857	RCV002568273 RCV000445357 RCV000445360 RCV000787976 RCV000855525 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (32)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aphasia	Aphasia	Pubtator	30139987	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28794131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28794131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16391838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CTD_human_DG	26881866		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	30139987	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	28132689, 30139987	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	28794131, 28892570, 29801756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	40234584	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30139987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninaemia	Hyperphenylalaninemia	BEFREE	28132689, 28794131, 28892570, 30139987, 30179615, 30667134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninemia due to DNAJC12 deficiency	Hyperphenylalaninemia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT	Hyperphenylalaninemia	GENOMICS_ENGLAND_DG	28132689		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT	Hyperphenylalaninemia	UNIPROT_DG	28132689		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT	Hyperphenylalaninemia	ORPHANET_DG	28132689		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT	Hyperphenylalaninemia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT	Hyperphenylalaninemia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28132689, 28794131, 30139987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	28132689, 30139987	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16391838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30617870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30100995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16391838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	30139987	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25805104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta, Levin type	Osteogenesis Imperfecta	BEFREE	30139987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28892570, 29801756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	28892570, 29801756, 31120186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	25805104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30617870		★★★★★ ★☆☆☆☆ Found in Text Mining only

DNAJC12 (DnaJ heat shock protein family (Hsp40) member C12)