FAM13A family with sequence similarity 13 member A [Homo sapiens (human)] - Gene

Summary

Official Symbol: FAM13Aprovided by HGNC
Official Full Name: family with sequence similarity 13 member Aprovided by HGNC
Primary source: HGNC:HGNC:19367
See related: Ensembl:ENSG00000138640 MIM:613299; AllianceGenome:HGNC:19367
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: FAM13A1; ARHGAP48
Summary: Predicted to enable GTPase activator activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Predicted to be located in cytosol. Implicated in chronic obstructive pulmonary disease. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in fat (RPKM 21.4), thyroid (RPKM 14.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q22.1

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (88725960..89057185, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (92057646..92388672, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (89647111..89978336, complement)

Chromosome 4 - NC_000004.12 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
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?

The FAM13A Long Isoform Regulates Cilia Movement and Coordination in Airway Mucociliary Transport.
Title: The FAM13A Long Isoform Regulates Cilia Movement and Coordination in Airway Mucociliary Transport.
Association of family sequence similarity gene 13A gene polymorphism and interstitial lung disease susceptibility: A systematic review and meta-analysis.
Title: Association of family sequence similarity gene 13A gene polymorphism and interstitial lung disease susceptibility: A systematic review and meta-analysis.
FAM13A regulates cellular senescence marker p21 and mitochondrial reactive oxygen species production in airway epithelial cells.
Title: FAM13A regulates cellular senescence marker p21 and mitochondrial reactive oxygen species production in airway epithelial cells.
FAM13A polymorphisms are associated with a specific susceptibility to clinical progression of oral cancer in alcohol drinkers.
Title: FAM13A polymorphisms are associated with a specific susceptibility to clinical progression of oral cancer in alcohol drinkers.
Single Nucleotide Polymorphisms of FAM13A Gene in Chronic Obstructive Pulmonary Disease-A Case Control Study in Vietnam.
Title: Single Nucleotide Polymorphisms of FAM13A Gene in Chronic Obstructive Pulmonary Disease-A Case Control Study in Vietnam.
The Influence of FAM13A and PPAR-gamma2 Gene Polymorphisms on the Metabolic State of Postmenopausal Women.
Title: The Influence of FAM13A and PPAR-γ2 Gene Polymorphisms on the Metabolic State of Postmenopausal Women.
Association of a FAM13A variant with interstitial lung disease in Japanese rheumatoid arthritis.
Title: Association of a FAM13A variant with interstitial lung disease in Japanese rheumatoid arthritis.
miR30a5p induces the adipogenic differentiation of bone marrow mesenchymal stem cells by targeting FAM13A/Wnt/betacatenin signaling in aplastic anemia.
Title: miR‑30a‑5p induces the adipogenic differentiation of bone marrow mesenchymal stem cells by targeting FAM13A/Wnt/β‑catenin signaling in aplastic anemia.
Family with sequence similarity 13 member A mediates TGF-beta1-induced EMT in small airway epithelium of patients with chronic obstructive pulmonary disease.
Title: Family with sequence similarity 13 member A mediates TGF-β1-induced EMT in small airway epithelium of patients with chronic obstructive pulmonary disease.
Connecting COPD GWAS Genes: FAM13A Controls TGFbeta2 Secretion by Modulating AP-3 Transport.
Title: Connecting COPD GWAS Genes: FAM13A Controls TGFβ2 Secretion by Modulating AP-3 Transport.

Submit: New GeneRIF Correction See all GeneRIFs (41)

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

EBI GWAS Catalog

Description
A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomewide association study of movement-related adverse antipsychotic effects. EBI GWAS Catalog EBI GWAS CatalogPubMed
IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. EBI GWAS Catalog EBI GWAS CatalogPubMed
Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variants in FAM13A are associated with chronic obstructive pulmonary disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

SHGC-50218 (e-PCR)
- UniSTS:17171

SHGC4-1593 (e-PCR)
- UniSTS:35862

SHGC4-1675 (e-PCR)
- UniSTS:60187

D4S297 (e-PCR)
- UniSTS:50722

SHGC-36780 (e-PCR)
- UniSTS:79402

SHGC-50449 (e-PCR)
- UniSTS:79403

G33864 (e-PCR)
- UniSTS:58686

SHGC-132393 (e-PCR)
- UniSTS:170815

SHGC-59262 (e-PCR)
- UniSTS:64846

D4S1011 (e-PCR)
- UniSTS:32337

A006P29 (e-PCR)
- UniSTS:15954

SHGC-67699 (e-PCR)
- UniSTS:57941

SHGC-67278 (e-PCR)
- UniSTS:53848

RH91970 (e-PCR)
- UniSTS:84329

RH45026 (e-PCR)
- UniSTS:75626

RH122208 (e-PCR)
- UniSTS:134768

SHGC-51762 (e-PCR)
- UniSTS:11123

SHGC-59723 (e-PCR)
- UniSTS:17779

D4S3295 (e-PCR)
- UniSTS:34949

SHGC-24784 (e-PCR)
- UniSTS:63122

D4S2508E (e-PCR)
- UniSTS:56989

STS-N26574 (e-PCR)
- UniSTS:48555

SHGC-59703 (e-PCR)
- UniSTS:11951

D4S2828 (e-PCR)
- UniSTS:26292

D4S2460 (e-PCR), detects polymorphism
- UniSTS:29115

D4S2564E (e-PCR)
- UniSTS:150974

D4S2580E (e-PCR)
- UniSTS:150983

D4S2595E (e-PCR)
- UniSTS:61384

SHGC-24785 (e-PCR)
- UniSTS:2003

SHGC-147152 (e-PCR)
- UniSTS:172757

SHGC4-1498 (e-PCR)
- UniSTS:64989

D4S1160 (e-PCR)
- UniSTS:21229

SHGC-50344 (e-PCR)
- UniSTS:50157

SHGC-30448 (e-PCR)
- UniSTS:50158

FAM13A1__7625 (e-PCR)
- UniSTS:466162

SHGC-36144 (e-PCR)
- UniSTS:43000

G34311 (e-PCR)
- UniSTS:5371

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: protein FAM13A

Names: FAM13A1_v2 protein; family with sequence similarity 13, member A1

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_001015045.3 → NP_001015045.1 protein FAM13A isoform b

See identical proteins and their annotated locations for NP_001015045.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) is shorter and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

AK027138, BC053569, BN000265, DA450095

Consensus CDS

CCDS43251.1

UniProtKB/Swiss-Prot

O94988

Related

ENSP00000421562.1, ENST00000508369.5
NM_001265578.2 → NP_001252507.1 protein FAM13A isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and has multiple differences in the coding region, including the use of an alternate start codon, compared to variant 1. The encoded isoform (c) is shorter and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

BC086875, BN000265, DA450095

Consensus CDS

CCDS58912.1

UniProtKB/Swiss-Prot

O94988

Related

ENSP00000427189.1, ENST00000503556.5
NM_001265579.2 → NP_001252508.1 protein FAM13A isoform d

See identical proteins and their annotated locations for NP_001252508.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and has multiple differences in the coding region, including the use of an alternate start codon, compared to variant 1. The encoded isoform (d) is shorter and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

AB020721, BN000265, DA450095

Consensus CDS

CCDS58913.1

UniProtKB/Swiss-Prot

O94988

Related

ENSP00000378450.2, ENST00000395002.6
NM_001265580.2 → NP_001252509.1 protein FAM13A isoform e

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and has multiple differences in the coding region, including the use of an alternate start codon, compared to variant 1. The encoded isoform (e) is shorter and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

AK296932, BN000265, DA450095

Consensus CDS

CCDS58911.1

UniProtKB/TrEMBL

E9PGM7

Related

ENSP00000423252.1, ENST00000513837.5
NM_014883.4 → NP_055698.2 protein FAM13A isoform a

See identical proteins and their annotated locations for NP_055698.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

BN000265, DA692373

Consensus CDS

CCDS34029.1

UniProtKB/Swiss-Prot

B4DLC1, O94988, Q24JP0, Q5PR21, Q8NBA3

UniProtKB/TrEMBL

A0A2X0SFT1

Related

ENSP00000264344.5, ENST00000264344.10

Conserved Domains (2) summary

cd04393
Location:39 → 226

RhoGAP_FAM13A1a; RhoGAP_FAM13A1a: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of FAM13A1, isoform a-like proteins. The function of FAM13A1a is unknown. Small GTPases cluster into distinct families, and all act as molecular switches, active ...

pfam15905
Location:617 → 819

HMMR_N; Hyaluronan mediated motility receptor N-terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

88725960..89057185 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047449481.1 → XP_047305437.1 protein FAM13A isoform X8

UniProtKB/TrEMBL

A0A2X0SFT1
XM_047449479.1 → XP_047305435.1 protein FAM13A isoform X2

UniProtKB/TrEMBL

A0A2X0SFT1
XM_011531516.2 → XP_011529818.1 protein FAM13A isoform X1

See identical proteins and their annotated locations for XP_011529818.1

UniProtKB/Swiss-Prot

B4DLC1, O94988, Q24JP0, Q5PR21, Q8NBA3

UniProtKB/TrEMBL

A0A2X0SFT1

Conserved Domains (2) summary

cd04393
Location:39 → 226

RhoGAP_FAM13A1a; RhoGAP_FAM13A1a: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of FAM13A1, isoform a-like proteins. The function of FAM13A1a is unknown. Small GTPases cluster into distinct families, and all act as molecular switches, active ...

pfam15905
Location:617 → 819

HMMR_N; Hyaluronan mediated motility receptor N-terminal
XM_047449482.1 → XP_047305438.1 protein FAM13A isoform X9

UniProtKB/TrEMBL

A0A2X0SFT1
XM_047449480.1 → XP_047305436.1 protein FAM13A isoform X6

UniProtKB/TrEMBL

A0A2X0SFT1
XM_011531517.3 → XP_011529819.1 protein FAM13A isoform X3

UniProtKB/TrEMBL

A0A2X0SFT1

Conserved Domains (2) summary

cd04393
Location:39 → 226

RhoGAP_FAM13A1a; RhoGAP_FAM13A1a: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of FAM13A1, isoform a-like proteins. The function of FAM13A1a is unknown. Small GTPases cluster into distinct families, and all act as molecular switches, active ...

pfam15905
Location:589 → 791

HMMR_N; Hyaluronan mediated motility receptor N-terminal
XM_017007624.3 → XP_016863113.1 protein FAM13A isoform X5

UniProtKB/TrEMBL

A0A2X0SFT1
XM_005262683.4 → XP_005262740.1 protein FAM13A isoform X4

UniProtKB/TrEMBL

A0A2X0SFT1

Conserved Domains (2) summary

cd04393
Location:39 → 226

RhoGAP_FAM13A1a; RhoGAP_FAM13A1a: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of FAM13A1, isoform a-like proteins. The function of FAM13A1a is unknown. Small GTPases cluster into distinct families, and all act as molecular switches, active ...

pfam15905
Location:617 → 819

HMMR_N; Hyaluronan mediated motility receptor N-terminal
XM_017007625.1 → XP_016863114.1 protein FAM13A isoform X7

UniProtKB/TrEMBL

A0A2X0SFT1
XM_011531518.2 → XP_011529820.1 protein FAM13A isoform X11

See identical proteins and their annotated locations for XP_011529820.1

UniProtKB/TrEMBL

A0A2X0SFT1

Conserved Domains (2) summary

pfam15905
Location:431 → 633

HMMR_N; Hyaluronan mediated motility receptor N-terminal

cl02570
Location:1 → 40

RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
XM_017007626.1 → XP_016863115.1 protein FAM13A isoform X10

UniProtKB/TrEMBL

A0A2X0SFT1
XM_047449483.1 → XP_047305439.1 protein FAM13A isoform X11

UniProtKB/TrEMBL

A0A2X0SFT1
XM_011531519.4 → XP_011529821.1 protein FAM13A isoform X11

See identical proteins and their annotated locations for XP_011529821.1

UniProtKB/TrEMBL

A0A2X0SFT1

Conserved Domains (2) summary

pfam15905
Location:431 → 633

HMMR_N; Hyaluronan mediated motility receptor N-terminal

cl02570
Location:1 → 40

RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
XM_047449485.1 → XP_047305441.1 protein FAM13A isoform X13
XM_006714057.4 → XP_006714120.1 protein FAM13A isoform X12

UniProtKB/TrEMBL

A0A2X0SFT1

Conserved Domains (1) summary

cl02570
Location:10 → 37

RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
XM_017007633.3 → XP_016863122.1 protein FAM13A isoform X14
XM_047449484.1 → XP_047305440.1 protein FAM13A isoform X13
XM_047449487.1 → XP_047305443.1 protein FAM13A isoform X16
XM_017007634.3 → XP_016863123.1 protein FAM13A isoform X15