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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	56521
Gene name Gene Name - the full gene name approved by the HGNC.	DnaJ heat shock protein family (Hsp40) member C12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DNAJC12
Synonyms (NCBI Gene) Gene synonyms aliases	HPANBH4, JDP1
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q21.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(8)

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

Transcription factors

Show/Hide all(1)

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

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hyperphenylalaninemia	hyperphenylalaninemia due to dnajc12 deficiency	rs370032864, rs1841794635, rs755829473, rs1035794099, rs1841794857, rs775029664, rs1589052989, rs770562664, rs1273776043, rs569240271, rs761235755, rs1277990552	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
Mental Depression	Clinical depression	N/A	N/A	GWAS

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Aphasia	Associate	30139987
Developmental Disabilities	Associate	30139987
Dystonia	Associate	28132689, 30139987
Glioma	Associate	40234584
Intellectual Disability	Associate	28132689, 30139987
Movement Disorders	Associate	30139987
Phenylketonurias	Associate	28132689, 30139987, 32333439, 32519510, 37818795

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