FAM83D family with sequence similarity 83 member D [Homo sapiens (human)] - Gene

Summary

Official Symbol: FAM83Dprovided by HGNC
Official Full Name: family with sequence similarity 83 member Dprovided by HGNC
Primary source: HGNC:HGNC:16122
See related: Ensembl:ENSG00000101447 MIM:618380; AllianceGenome:HGNC:16122
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CHICA; C20orf129; dJ616B8.3
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, Nov 2024]
Expression: Biased expression in esophagus (RPKM 30.9), urinary bladder (RPKM 8.3) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.23

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (38926417..38953106)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (40656469..40683158)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (37555060..37581749)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

METTL3 regulates FAM83D m[6]A modification to accelerate tumorigenesis of triple-negative breast cancer via the Wnt/beta-catenin pathway.
Title: METTL3 regulates FAM83D m(6)A modification to accelerate tumorigenesis of triple-negative breast cancer via the Wnt/β-catenin pathway.
Systematic analysis of the oncogenic role of FAM83D across cancers based on data mining.
Title: Systematic analysis of the oncogenic role of FAM83D across cancers based on data mining.
miRNA-142-3p functions as a potential tumor suppressor directly targeting FAM83D in the development of ovarian cancer.
Title: miRNA-142-3p functions as a potential tumor suppressor directly targeting FAM83D in the development of ovarian cancer.
Immune implication of FAM83D gene in hepatocellular carcinoma.
Title: Immune implication of FAM83D gene in hepatocellular carcinoma.
Fam83d modulates MAP kinase and AKT signaling and is induced during neurogenic skeletal muscle atrophy.
Title: Fam83d modulates MAP kinase and AKT signaling and is induced during neurogenic skeletal muscle atrophy.
FAM83D promotes epithelial-mesenchymal transition, invasion and cisplatin resistance through regulating the AKT/mTOR pathway in non-small-cell lung cancer.
Title: FAM83D promotes epithelial-mesenchymal transition, invasion and cisplatin resistance through regulating the AKT/mTOR pathway in non-small-cell lung cancer.
circFOXM1 promotes proliferation of non-small cell lung carcinoma cells by acting as a ceRNA to upregulate FAM83D.
Title: circFOXM1 promotes proliferation of non-small cell lung carcinoma cells by acting as a ceRNA to upregulate FAM83D.
FAM83D promotes ovarian cancer progression and its potential application in diagnosis of invasive ovarian cancer.
Title: FAM83D promotes ovarian cancer progression and its potential application in diagnosis of invasive ovarian cancer.
Overexpressed in tumors, family with sequence similarity 83 member D protein FAM83D (FAM83D) is associated with gender, AJCC stage, tumor recurrence and survival in hepatocellular carcinoma (HCC).
Title: FAM83D is associated with gender, AJCC stage, overall survival and disease-free survival in hepatocellular carcinoma.
FAM83D promotes HCC recurrence by promoting CD44 expression and CD44+ CSCs malignancy.
Title: FAM83D associates with high tumor recurrence after liver transplantation involving expansion of CD44+ carcinoma stem cells.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47584 (e-PCR)
- UniSTS:41220

Z94531 (e-PCR)
- UniSTS:58449

NoName (e-PCR)
- UniSTS:495240

NoName (e-PCR)
- UniSTS:484757

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables kinesin binding	IPI Inferred from Physical Interaction more info	PubMed
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in epithelial to mesenchymal transition	IDA Inferred from Direct Assay more info	PubMed
involved_in metaphase chromosome alignment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell cycle G1/S phase transition	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell cycle G1/S phase transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to mitotic spindle	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to mitotic spindle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of ERK1 and ERK2 cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of TOR signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of TOR signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IC Inferred by Curator more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intercellular bridge	IDA Inferred from Direct Assay more info
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
located_in mitotic spindle	IDA Inferred from Direct Assay more info
is_active_in mitotic spindle pole	IBA Inferred from Biological aspect of Ancestor more info
located_in mitotic spindle pole	IDA Inferred from Direct Assay more info	PubMed
located_in spindle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein FAM83D

Names: spindle protein CHICA

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_030919.3 → NP_112181.3 protein FAM83D

Status: VALIDATED

Source sequence(s)

AK055793, AL023803, BC053683, BC080188

Consensus CDS

CCDS42872.2

UniProtKB/Swiss-Prot

B4E1I7, Q5THR2, Q68EN1, Q6P457, Q7Z6H0, Q96DF5, Q96N89, Q9BVM8, Q9H4H8

UniProtKB/TrEMBL

A0A087WXK8

Related

ENSP00000481465.1, ENST00000619850.2

Conserved Domains (2) summary

pfam13091
Location:152 → 287

PLDc_2; PLD-like domain

cl15239
Location:21 → 294

PLDc_SF; Catalytic domain of phospholipase D superfamily proteins