FAM83D - family with sequence similarity 83 member D Gene

Homo sapiens

Also known as CHICA; C20orf129; dJ616B8.3

Gene ID: 81610 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04723	FAM83D Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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