Gene: MACF1

Alternate names for this Gene: ABP620|ACF7|LIS9|MACF|OFC4

Gene Summary: This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.3

Description of this Gene: microtubule actin crosslinking factor 1

Type of Gene: protein-coding

rs658191 in MACF1 gene and Adenocarcinoma of large intestine PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

rs112566467 in MACF1 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.

PMID 29273807 2018 Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

rs658191 in MACF1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

rs658191 in MACF1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

rs658191 in MACF1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

rs658191 in MACF1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

rs658191 in MACF1 gene and Colorectal Carcinoma PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

PMID 27207650 2016 We discovered 17 variants across 4 independent regions that merit further investigation due to suggestive CRC associations (P < 1×10(-6)) at 1p34.3 (rs7528276; Odds Ratio (OR) = 1.86 [95% confidence interval (CI): 1.47-2.36); P = 2.5×10(-7)], 2q23.3 (rs1367374; OR = 1.37 (95% CI: 1.21-1.55); P = 4.0×10(-7)), 14q24.2 (rs143046984; OR = 1.65 (95% CI: 1.36-2.01); P = 4.1×10(-7)) and 16q12.2 [rs142319636; OR = 1.69 (95% CI: 1.37-2.08); P=7.8×10(-7)].

rs658191 in MACF1 gene and Colorectal Neoplasms PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

rs11205823 in MACF1 gene and Corpuscular Hemoglobin Concentration Mean PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs16826069 in MACF1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 29632382 2018 Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

PMID 28869590 2017 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.

PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

rs2036465 in MACF1 gene and Headache PMID 29397368 2018 A Genome-Wide Association Study Finds Genetic Associations with Broadly-Defined Headache in UK Biobank (N=223,773).

rs2296172 in MACF1 gene and High density lipoprotein measurement PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

rs1488808726 in MACF1 gene and Lissencephaly PMID 30471716 2018 MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.

rs658191 in MACF1 gene and Malignant neoplasm of large intestine PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

rs658191 in MACF1 gene and Malignant tumor of colon PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

rs2296172 in MACF1 gene and Peripheral Arterial Diseases PMID 27082954 2016 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease.

rs17491275 in MACF1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.