FAM83D - family with sequence similarity 83 member D Gene

Also Known as CHICA; C20orf129; dJ616B8.3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 81610

About FAM83D

Cytogenetic location: 20q11.23 Genomic coordinates (GRCh38): 20:38,926,417-38,953,106 (from NCBI)

This gene has 2 transcripts (splice variants), 209 orthologues and 7 paralogues. Biased expression in esophagus (RPKM 30.9), urinary bladder (RPKM 8.3) and 13 other tissues.

Summary

Enables Kinesin binding activity; microtubule binding activity; and protein kinase binding activity. Involved in several processes, including positive regulation of cell cycle G1/S phase transition; protein localization to mitotic spindle; and regulation of intracellular signal transduction. Located in cytosol; intercellular bridge; and mitotic spindle pole. [provided by Alliance of Genome Resources, Apr 2022]

FAM83D Products (1)

mRNA	Protein	Name
NM_030919.3	NP_112181.3	protein FAM83D

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables kinesin binding	IPI IPI: Inferred from physical interaction	18485706	GOA
enables microtubule binding	IDA IDA: Inferred from direct assay	18485706	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21900206	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	24736947	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cell migration	IDA IDA: Inferred from direct assay	24344117	GOA
involved in cell population proliferation	IDA IDA: Inferred from direct assay	24344117	GOA
involved in epithelial to mesenchymal transition	IDA IDA: Inferred from direct assay	24344117	GOA
involved in metaphase chromosome alignment	IMP IMP: Inferred from mutant phenotype	18485706	GOA
involved in positive regulation of cell cycle G1/S phase transition	IMP IMP: Inferred from mutant phenotype	25646692	GOA
involved in protein localization to mitotic spindle	IMP IMP: Inferred from mutant phenotype	18485706	GOA
involved in regulation of ERK1 and ERK2 cascade	IMP IMP: Inferred from mutant phenotype	24736947	GOA
involved in regulation of TOR signaling	IDA IDA: Inferred from direct assay	24344117	GOA
involved in regulation of protein catabolic process	IDA IDA: Inferred from direct assay	24344117	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	18445686	GOA
located in mitotic spindle pole	IDA IDA: Inferred from direct assay	15561729	GOA
located in spindle	IDA IDA: Inferred from direct assay	18445686	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FAM83D Protein Structure

DUF1669

0
100
200
300
400
500
615 a.a.

Protein Preferred Names	Protein Names
protein FAM83D	spindle protein CHICA

FAM83D Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FAM83D	Q9H4H8	CSNK1A1	Homo sapiens	P48729	Anti Tag CoIP	29789297
Intra	FAM83D	Q9H4H8	HMMR	Homo sapiens	O75330	Anti Tag CoIP	29789297

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Amelogenesis Imperfecta, Type Iiia	Ai3 Adhcai Amelogenesis Imperfecta Type 3 AI3A Amelogenesis Imperfecta, Type Iii Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant Amelogenesis Imperfecta Type 3a Amelogenesis Imperfecta Hypomineralization Type Amelogenesis Imperfecta Type Iii Hypocalcified Amelogenesis Imperfecta Amelogenesis Imperfecta, Type 3 Amelogenesis Imperfecta, Hypomineralization Type Autosomal Dominant Amelogenesis Imperfecta Hypocalcification Type Amelogenesis Imperfecta 3a Amelogenesis Imperfecta Hypocalcification Type Autosomal Dominant
Filippi Syndrome	Scott Craniodigital Syndrome With Mental Retardation Type 1 Syndactyly-Microcephaly-Intellectual Disability Syndrome FLPIS Scott Bryant Graham Syndrome Craniodigital-Intellectual Disability Syndrome Scott Craniodigital Syndrome Scott-Bryant-Graham Syndrome Syndactyly, Type I, With Microcephaly And Mental Retardation Syndactyly Type I With Microcephaly And Intellectual Disability Unusual Facial Appearance, Microcephaly, Growth And Intellectual Disability And Syndactyly Craniodigital Syndrome With Intellectual Disability Craniodigital Syndrome-Intellectual Disability Syndrome Craniodigital Syndrome-Intellectual Disability, Scott Type Intellectual Disability-Craniodigital Syndrome
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04723	FAM83D Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21126	Fam83d Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27644	Fam83d Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	FAM83D	VGNC	VGNC:28835
Mus musculus	FAM83D	MGD	MGI:1919128
Canis familiaris	FAM83D	VGNC	VGNC:40702
Felis catus	FAM83D	VGNC	VGNC:62130
Rattus norvegicus	FAM83D	RGD	RGD:1565583
Others	FAM83D	NCBI