KIF12 (kinesin family member 12)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• 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

miRNA Show/Hide all (31)

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO) Show/Hide all (18)

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

Other IDs

• MIM: 611278
• HGNC: 21495
• e!Ensembl: ENSG00000136883

Protein

• UniProt ID: 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

Pathways

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

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cholestasis, progressive familial intrahepatic, 8	Pathogenic; Likely pathogenic	rs781206726, rs564811653, rs1391374865, rs2490352623, rs1489368528, rs750069192	RCV001795884 RCV001795885 RCV001795886 RCV002283673 RCV003989888 RCV003989889	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (9)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
CHOLESTASIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	30250217, 30976738, 31130284, 33456446	★★☆☆☆ 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	30664745, 36411363, 40205036, 40262193	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	30664745, 34450027, 40205036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	30374069, 30664745, 34450027, 36000784, 36376028, 37247657, 40205036	★★☆☆☆ 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

Associations from Text Mining Show/Hide Text Mining Associations (10)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ZFYVE19 2 shared diseasesCholelithiasis, Progressive intrahepatic cholestasis 4 shared evidence sourcesDisgenet (Cholelithiasis), HPO (Cholelithiasis), ClinVar (Cholelithiasis), Disgenet (Progressive intrahepatic cholestasis) Related via 2 shared diseases including Cholelithiasis, Progressive intrahepatic cholestasis — evidence mostly Disgenet. SEMA7A 2 shared diseasesCholelithiasis, Progressive intrahepatic cholestasis 4 shared evidence sourcesDisgenet (Cholelithiasis), HPO (Cholelithiasis), ClinVar (Cholelithiasis), Disgenet (Progressive intrahepatic cholestasis) Related via 2 shared diseases including Cholelithiasis, Progressive intrahepatic cholestasis — evidence mostly Disgenet. USP53 2 shared diseasesCholelithiasis, Progressive intrahepatic cholestasis 4 shared evidence sourcesDisgenet (Cholelithiasis), HPO (Cholelithiasis), ClinVar (Cholelithiasis), Disgenet (Progressive intrahepatic cholestasis) Related via 2 shared diseases including Cholelithiasis, Progressive intrahepatic cholestasis — evidence mostly Disgenet. KIF1C 3 shared pathwaysMotor proteins, COPI-dependent Golgi-to-ER retrograde traffic, Kinesins Related via 3 shared pathways including Motor proteins, COPI-dependent Golgi-to-ER retrograde traffic. KIF19 3 shared pathwaysMotor proteins, COPI-dependent Golgi-to-ER retrograde traffic, Kinesins Related via 3 shared pathways including Motor proteins, COPI-dependent Golgi-to-ER retrograde traffic.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ZFYVE19	2	["Cholelithiasis","Progressive intrahepatic cholestasis"]	0	[]	4	["Disgenet (Cholelithiasis)","HPO (Cholelithiasis)","ClinVar (Cholelithiasis)","Disgenet (Progressive intrahepatic cholestasis)"]
SEMA7A	2	["Cholelithiasis","Progressive intrahepatic cholestasis"]	0	[]	4	["Disgenet (Cholelithiasis)","HPO (Cholelithiasis)","ClinVar (Cholelithiasis)","Disgenet (Progressive intrahepatic cholestasis)"]
USP53	2	["Cholelithiasis","Progressive intrahepatic cholestasis"]	0	[]	4	["Disgenet (Cholelithiasis)","HPO (Cholelithiasis)","ClinVar (Cholelithiasis)","Disgenet (Progressive intrahepatic cholestasis)"]
KIF1C	0	[]	3	["Motor proteins","COPI-dependent Golgi-to-ER retrograde traffic","Kinesins"]	0	[]
KIF19	0	[]	3	["Motor proteins","COPI-dependent Golgi-to-ER retrograde traffic","Kinesins"]	0	[]

Diseases Linked via Similar Genes

Color vision deficiency Linked via 1 of 5 related genesSEMA7A Hypertension Linked via 1 of 5 related genesSEMA7A Diabetes mellitus type 2 Linked via 1 of 5 related genesSEMA7A Corneal astigmatism Linked via 1 of 5 related genesUSP53 Ataxia, spastic, autosomal recessive Linked via 1 of 5 related genesKIF1C

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Color vision deficiency	1	["SEMA7A"]
Hypertension	1	["SEMA7A"]
Diabetes mellitus type 2	1	["SEMA7A"]
Corneal astigmatism	1	["USP53"]
Ataxia, spastic, autosomal recessive	1	["KIF1C"]