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	113220
Gene name	Kinesin family member 12
Gene symbol	KIF12
Synonyms (NCBI Gene)	PFIC8
Chromosome	9
Chromosome location	9q32
Summary	This gene encodes a member of the kinesin superfamily of microtubule-associated molecular motors with functions related to the microtubule cytosekelton. Members of this superfamily play important roles in intracellular transport and cell division. A simil

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miRTarBase ID	miRNA	Experiments
MIRT1093208	hsa-miR-377	CLIP-seq
MIRT1093209	hsa-miR-4649-3p	CLIP-seq
MIRT1093210	hsa-miR-622	CLIP-seq
MIRT2024975	hsa-miR-15a	CLIP-seq
MIRT2024976	hsa-miR-15b	CLIP-seq
MIRT2024977	hsa-miR-16	CLIP-seq
MIRT2024978	hsa-miR-195	CLIP-seq
MIRT2024979	hsa-miR-424	CLIP-seq
MIRT2024980	hsa-miR-4524	CLIP-seq
MIRT2024981	hsa-miR-497	CLIP-seq
MIRT2024982	hsa-miR-503	CLIP-seq
MIRT2024983	hsa-miR-646	CLIP-seq
MIRT2256094	hsa-miR-136	CLIP-seq
MIRT2024975	hsa-miR-15a	CLIP-seq
MIRT2024976	hsa-miR-15b	CLIP-seq
MIRT2024977	hsa-miR-16	CLIP-seq
MIRT2024978	hsa-miR-195	CLIP-seq
MIRT2256095	hsa-miR-214	CLIP-seq
MIRT2256096	hsa-miR-3619-5p	CLIP-seq
MIRT2024979	hsa-miR-424	CLIP-seq
MIRT2256097	hsa-miR-4291	CLIP-seq
MIRT2256098	hsa-miR-4494	CLIP-seq
MIRT2256099	hsa-miR-4499	CLIP-seq
MIRT2024980	hsa-miR-4524	CLIP-seq
MIRT2256100	hsa-miR-4771	CLIP-seq
MIRT2024981	hsa-miR-497	CLIP-seq
MIRT2024982	hsa-miR-503	CLIP-seq
MIRT2256101	hsa-miR-626	CLIP-seq
MIRT2024983	hsa-miR-646	CLIP-seq
MIRT2256102	hsa-miR-761	CLIP-seq
MIRT2256103	hsa-miR-922	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003777	Function	Microtubule motor activity	IBA
GO:0003777	Function	Microtubule motor activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005871	Component	Kinesin complex	IBA
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IEA
GO:0007018	Process	Microtubule-based movement	IBA
GO:0007018	Process	Microtubule-based movement	IEA
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0043226	Component	Organelle	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070062	Component	Extracellular exosome	IDA	21082674

MIM	HGNC	e!Ensembl
611278	21495	ENSG00000136883

Q96FN5

Protein name

Kinesin-like protein KIF12

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00225	Kinesin	31 → 360	Kinesin motor domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in fetal liver, adult brain and pancreatic islet as well as in kidney tumors, uterus cancer and pancreatic cancer. {ECO:0000269|PubMed:15643526}.

Sequence

MEERGSPDGDLARSLEQGPEGPETPIQVVLRVRPMSAAELRRGQQSVLHCSGTRTLQGGP
EVAFRFGAVLDAARTQEDVFRACGVRRLGELALRGFSCTVFTFGQTGSGKTYTLTGPPPQ
GEGVPVPPSLAGIMQRTFAWLLDRVQHLGAPVTLRASYLEIYNEQVRDLLSLGSPRPLPV
RWNKTRGFYVEQLRVVEFGSLEALMELLQTGLSRRRNSAHTLNQASSRSHALLTLYISRQ
TAQQMPSVDPGEPPVGGKLCFVDLAGSEKVAATGSRGELMLEANSINRSLLALGHCISLL
LDPQRKQSHIPFRDSKLTKLLADSLGGRGVTLMVACVSPSAQCLPETLSTLRYASRAQRV
TTRPQAPKSPVAKQPQRLETEMLQLQEENRRLQFQLDQMDCKASGLSGARVAWAQRNLYG
MLQEFMLENERLRKEKSQLQNSRDLAQNEQRILAQQVHALERRLLSACYHHQQGPGLTPP
CPCLMAPAPPCHALPPLYSCPCCHICPLCRVPLAHWACLPGEHHLPQVLDPEASGGRPPS
ARPPPWAPPCSPGSAKCPRERSHSDWTQTRVLAEMLTEEEVVPSAPPLPVRPPKTSPGLR
GGAGVPNLAQRLEALRDQIGSSLRRGRSQPPCSEGARSPGQVLPPH

Sequence length

646

Interactions

View interactions

	KEGG		Reactome
	Motor proteins		COPI-dependent Golgi-to-ER retrograde traffic Kinesins

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
Cholestasis, progressive familial intrahepatic, 8	Pathogenic; Likely pathogenic	rs781206726, rs564811653, rs1391374865, rs2490352623, rs1489368528, rs750069192	RCV001795884 RCV001795885 RCV001795886 RCV002283673 RCV003989888 RCV003989889 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (9)

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.
CHOLESTASIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIF12-related disorder	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE INTRAHEPATIC CHOLESTASIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Bile Duct Diseases	Bile duct disease	Pubtator	30250217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21479552	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	36830709	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	30250217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	BEFREE	30250217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	34555379	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	23364394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	30250217, 34555379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21479552		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	30250217		★★★★★ ★☆☆☆☆ Found in Text Mining only

KIF12 (kinesin family member 12)